TSUMUGI 1.0.1__py3-none-any.whl

TSUMUGI/data/impc_phenodigm.csv

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+.rownames,Disorder id,Disorder name,Human gene symbol,Mouse model description,PhenoDigm % score,Matching human phenotypes,Matching mouse phenotypes
+1,OMIM:100300,Adams-Oliver Syndrome 1,ARHGAP31,Arhgap31<em1(IMPC)Bay> het embryo,12.31,HP:0002084,MP:0001697
+2,OMIM:100300,Adams-Oliver Syndrome 1,ARHGAP31,Arhgap31<em1(IMPC)Bay> hom embryo,21.11,"HP:0000822,HP:0001642,HP:0002092,HP:0001650",MP:0001914
+3,OMIM:101400,Saethre-Chotzen Syndrome,TWIST1,Twist1<em1(IMPC)Rbrc> het early,40.65,"HP:0011323,HP:0000294,HP:0001159,HP:0010104,HP:0009968,HP:0002644,HP:0001770,HP:0002974,HP:0000327,HP:0009951,HP:0004209,HP:0001822,HP:0001156","MP:0000572,MP:0002110,MP:0004509,MP:0000579,MP:0005270"
+4,OMIM:101400,Saethre-Chotzen Syndrome,TWIST1,Twist1<em1(IMPC)Rbrc> het late,32.9,"HP:0000294,HP:0001159,HP:0010104,HP:0009968,HP:0002644,HP:0001770,HP:0002974,HP:0009951,HP:0004209,HP:0001822,HP:0001156","MP:0000579,MP:0000572,MP:0002110"
+5,OMIM:102530,Spermatogenic Failure 6,SPATA16,Spata16<em1(IMPC)Marc> hom early,61.31,"HP:0031136,HP:0003251,HP:0012205","MP:0001925,MP:0001926"
+6,OMIM:103780,Alcohol Dependence,GABRA2,Gabra2<em1(IMPC)H> hom early,58.235,HP:0030955,"MP:0002797,MP:0001363,MP:0001399"
+7,OMIM:104200,"Alport Syndrome 3A, Autosomal Dominant",COL4A3,Col4a3<tm1b(EUCOMM)Wtsi> hom early,38.995,"HP:0002148,HP:0003774,HP:0001142,HP:0000093,HP:0002907,HP:0001134,HP:0002157,HP:0000123,HP:0000100,HP:0000083,HP:0030034,HP:0000099,HP:0004722,HP:0000121,HP:0000790","MP:0008805,MP:0003917,MP:0001319"
+8,OMIM:104300,"Alzheimer Disease, Familial, 1",APP,App<tm1b(KOMP)Wtsi> het early,27.45,HP:0410054,"MP:0005565,MP:0000194"
+9,OMIM:104300,"Alzheimer Disease, Familial, 1",PLAU,Plau<tm1b(EUCOMM)Wtsi> hom early,30.995,HP:0000726,MP:0001417
+10,OMIM:104300,"Alzheimer Disease, Familial, 1",NOS3,Nos3<em1(IMPC)Mbp> hom early,23.245,HP:0410054,"MP:0005565,MP:0000198"
+11,OMIM:104530,"Amelogenesis Imperfecta, Type Ia",LAMB3,Lamb3<tm1b(KOMP)Wtsi> hom early,70.01,"HP:0000679,HP:0000705,HP:0006311,HP:0009722,HP:0006297",MP:0002100
+12,OMIM:105210,"Amyloidosis, Hereditary Systemic 1",TTR,Ttr<em1(IMPC)H> hom early,25.47,"HP:0002078,HP:0002070,HP:0001251",MP:0001402
+13,OMIM:105830,Angelman Syndrome,UBE3A,Ube3a<em1(IMPC)Hmgu> het early,28.905,"HP:0000752,HP:0000749,HP:0007240,HP:0002136,HP:0001251","MP:0001402,MP:0011940"
+14,OMIM:105830,Angelman Syndrome,UBE3A,Ube3a<em1(IMPC)Hmgu> hom early,44.785,"HP:0000752,HP:0000749,HP:0007240,HP:0002136,HP:0001251","MP:0001402,MP:0001417,MP:0002757,MP:0011940,MP:0001399"
+15,OMIM:106210,Aniridia 1,PAX6,Pax6<em1(IMPC)Mbp> het early,61.18,"HP:0007676,HP:0000526,HP:0010923,HP:0011496,HP:0000518,HP:0007759,HP:0007750,HP:0001083,HP:0200020,HP:0033743,HP:0000609,HP:0009918","MP:0001297,MP:0001314,MP:0001293,MP:0005542"
+16,OMIM:106210,Aniridia 1,PAX6,Pax6<em1(IMPC)Mbp> het embryo,27.58,"HP:0007676,HP:0000526,HP:0007750,HP:0000609,HP:0033743",MP:0001297
+17,OMIM:106210,Aniridia 1,PAX6,Pax6<em1(IMPC)Mbp> hom embryo,27.435,"HP:0007676,HP:0000526,HP:0007750,HP:0000609,HP:0033743",MP:0001293
+18,OMIM:106600,"Tooth Agenesis, Selective, 1",MSX1,Msx1<tm1b(KOMP)Wtsi> hom embryo,52.83,HP:0000668,MP:0000111
+19,OMIM:108300,"Stickler Syndrome, Type I",COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,46.91,"HP:0004568,HP:0003302,HP:0000926,HP:0000347,HP:0000272,HP:0002808,HP:0002650,HP:0010891","MP:0005270,MP:0000160,MP:0000455"
+20,OMIM:108300,"Stickler Syndrome, Type I",COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,42.725,"HP:0006361,HP:0000193,HP:0006499,HP:0001166,HP:0001634,HP:0000176,HP:0000201,HP:0000175","MP:0002109,MP:0009908,MP:0000111,MP:0000266"
+21,OMIM:108720,"Atelosteogenesis, Type I",FLNB,Flnb<tm1b(KOMP)Wtsi> het early,26.63,"HP:0002949,HP:6000952","MP:0010124,MP:0000063"
+22,OMIM:108720,"Atelosteogenesis, Type I",FLNB,Flnb<tm1b(KOMP)Wtsi> hom early,21.91,"HP:0003811,HP:0003826",MP:0011100
+23,OMIM:108985,Sveinsson Chorioretinal Atrophy,TEAD1,Tead1<tm1a(KOMP)Wtsi> het early,59.96,"HP:0007950,HP:0000483","MP:0005543,MP:0001325"
+24,OMIM:108985,Sveinsson Chorioretinal Atrophy,TEAD1,Tead1<tm1b(KOMP)Wtsi> het early,42.055,HP:0000483,"MP:0005543,MP:0011960"
+25,OMIM:112240,Cole-Carpenter Syndrome 1,P4HB,P4hb<tm1b(KOMP)Wtsi> hom embryo,18.16,HP:0004322,MP:0003984
+26,OMIM:112250,Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma,MTAP,Mtap<em1(IMPC)Mbp> het early,36.13,HP:0007819,MP:0001304
+27,OMIM:112310,Boomerang Dysplasia,FLNB,Flnb<tm1b(KOMP)Wtsi> hom early,25.165,HP:0003811,MP:0011100
+28,OMIM:112600,"Brachydactyly, Type A2",GDF5,Gdf5<em1(IMPC)H> hom early,54.265,"HP:0009575,HP:0009467,HP:0008096,HP:0009161,HP:0009536,HP:0004220,HP:0009182,HP:0004691,HP:0009568,HP:0010055,HP:0009464,HP:0010109,HP:0004209,HP:0001822","MP:0000550,MP:0000572,MP:0000556,MP:0002110"
+29,OMIM:112600,"Brachydactyly, Type A2",BMPR1B,Bmpr1b<em1(IMPC)Mbp> hom early,33.97,"HP:0009575,HP:0009467,HP:0008096,HP:0009161,HP:0009536,HP:0004220,HP:0009182,HP:0004691,HP:0009568,HP:0010055,HP:0009464,HP:0010109,HP:0004209,HP:0001822",MP:0000572
+30,OMIM:113000,"Brachydactyly, Type B1",ROR2,Ror2<em1(IMPC)Mbp> hom embryo,42.87,"HP:0009835,HP:0001159,HP:0009473,HP:0005819,HP:0000696,HP:0003026,HP:0010185,HP:0005831,HP:0012385,HP:0010554,HP:0011304","MP:0000562,MP:0002109,MP:0000111"
+31,OMIM:113100,"Brachydactyly, Type C",GDF5,Gdf5<em1(IMPC)H> hom early,62.695,"HP:0009495,HP:0009349,HP:0001762,HP:0009587,HP:0009463,HP:0009523,HP:0010259,HP:0001156,HP:0009456,HP:0004220,HP:0009439,HP:0032078,HP:0001162,HP:0009417,HP:0006206,HP:0009516,HP:0009324,HP:0003067,HP:0009527,HP:0009436,HP:0009577,HP:0009461,HP:0004209,HP:0009331,HP:0011929,HP:0009575,HP:0009536,HP:0009534,HP:0009464,HP:0010034,HP:0009356","MP:0000550,MP:0000572,MP:0000556,MP:0002110"
+32,OMIM:113750,"Albinism, Oculocutaneous, Type Vi",SLC24A5,Slc24a5<tm1b(KOMP)Mbp> hom early,54.135,"HP:0007750,HP:0002286,HP:0007513","MP:0002075,MP:0001325"
+33,OMIM:114500,Colorectal Cancer,AXIN2,Axin2<tm1b(KOMP)Wtsi> hom embryo,15.68,"HP:0006753,HP:0006716",MP:0009908
+34,OMIM:114550,Hepatocellular Carcinoma,CASP8,Casp8<em1(IMPC)Ccpcz> het early,43.9,"HP:0001402,HP:0001413,HP:0006572","MP:0000601,MP:0000598"
+35,OMIM:115196,"Cardiomyopathy, Familial Hypertrophic, 3",TPM1,Tpm1<tm1a(EUCOMM)Wtsi> het early,28.12,HP:0001639,MP:0002833
+36,OMIM:115197,"Cardiomyopathy, Familial Hypertrophic, 4",MYBPC3,Mybpc3<tm1a(EUCOMM)Hmgu> hom early,45.3,"HP:0001639,HP:0011623,HP:0030718,HP:0005144,HP:0031318,HP:0001698,HP:0001640,HP:0002240,HP:0001714","MP:0002833,MP:0000266"
+37,OMIM:115197,"Cardiomyopathy, Familial Hypertrophic, 4",MYBPC3,Mybpc3<tm1b(EUCOMM)Hmgu> hom early,57.33,"HP:0002326,HP:0001635,HP:0001279,HP:0001639,HP:0001678,HP:0011705,HP:0001645,HP:0001663,HP:0011712,HP:0011713,HP:0001695,HP:0012664","MP:0010392,MP:0010511,MP:0003233"
+38,OMIM:115310,Pheochromocytoma/Paraganglioma Syndrome 4,SDHB,Sdhb<tm1b(EUCOMM)Hmgu> het early,11.205,HP:0011976,MP:0002135
+39,OMIM:116800,"Cataract 5, Multiple Types",HSF4,Hsf4<tm1b(KOMP)Wtsi> hom early,54.545,"HP:0010920,HP:0001134,HP:0010693,HP:0007971,HP:0100018","MP:0005102,MP:0001304,MP:0001319,MP:0001312,MP:0001303"
+40,OMIM:116860,Cerebral Cavernous Malformations,KRIT1,Krit1<tm1.1(KOMP)Vlcg> het early,23.91,HP:0007797,MP:0001333
+41,OMIM:117210,Spinocerebellar Ataxia 31,BEAN1,Bean1<em1(IMPC)H> hom early,54.11,"HP:0002070,HP:0002066,HP:0001251",MP:0001406
+42,OMIM:117360,Spinocerebellar Ataxia 29,ITPR1,Itpr1<tm1.1(NCOM)Mfgc> het early,22.305,HP:0000028,MP:0004930
+43,OMIM:117360,Spinocerebellar Ataxia 29,ITPR1,Itpr1<tm1.1(NCOM)Mfgc> hom embryo,15.365,HP:0004322,MP:0003984
+44,OMIM:118100,"Klippel-Feil Syndrome 1, Autosomal Dominant",GDF6,Gdf6<em1(IMPC)Ccpcz> het early,26.35,HP:0002813,MP:0002110
+45,OMIM:118200,"Charcot-Marie-Tooth Disease, Demyelinating, Type 1B",MPZ,Mpz<em1(IMPC)Tcp> hom early,38.35,HP:0003376,"MP:0001406,MP:0001402"
+46,OMIM:118210,"Charcot-Marie-Tooth Disease, Axonal, Type 2A1",KIF1B,Kif1b<tm1b(KOMP)Wtsi> het early,27.065,HP:0003376,MP:0002574
+47,OMIM:118210,"Charcot-Marie-Tooth Disease, Axonal, Type 2A1",KIF1B,Kif1b<tm1b(KOMP)Wtsi> hom embryo,14.66,HP:0001765,MP:0002109
+48,OMIM:119600,Cleidocranial Dysplasia 1,RUNX2,Runx2<em1(IMPC)Rbrc> het early,52.625,"HP:0003183,HP:0011069,HP:0000347,HP:0000696,HP:0100864,HP:0001156,HP:0002866,HP:0011001,HP:0004220,HP:0003302,HP:0000680,HP:0010230,HP:0008788,HP:0006660,HP:0006040,HP:6000875,HP:0003304,HP:0009577,HP:0002812,HP:0000894,HP:0002827,HP:0000882,HP:0002650,HP:0002808,HP:0006297","MP:0005298,MP:0010124,MP:0003795,MP:0004509,MP:0005270,MP:0004599,MP:0005296,MP:0000137"
+49,OMIM:119800,"Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly",PITX1,Pitx1<em1(IMPC)Wtsi> het early,52.245,"HP:0001762,HP:0003065,HP:0009756,HP:0010691,HP:0001776,HP:0001841,HP:0009556","MP:0008730,MP:0000559,MP:0000572,MP:0002110,MP:0001312,MP:0004083,MP:0000558,MP:0002932"
+50,OMIM:119800,"Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly",PITX1,Pitx1<em1(IMPC)Wtsi> hom early,23.62,HP:0003826,MP:0011100
+51,OMIM:120200,Microphthalmia/Coloboma 12,PAX6,Pax6<em1(IMPC)Mbp> het early,51.085,"HP:0000659,HP:0012521,HP:0007957,HP:0000568","MP:0001297,MP:0001314,MP:0001293,MP:0005542"
+52,OMIM:120200,Microphthalmia/Coloboma 12,PAX6,Pax6<em1(IMPC)Mbp> het embryo,43.875,"HP:0012521,HP:0000568",MP:0001297
+53,OMIM:120200,Microphthalmia/Coloboma 12,PAX6,Pax6<em1(IMPC)Mbp> hom embryo,35.85,"HP:0012521,HP:0000568",MP:0001293
+54,OMIM:120970,Cone-Rod Dystrophy 2,CRX,Crx<em1(IMPC)Ccpcz> hom early,38.035,"HP:0007722,HP:0000548,HP:0000533,HP:0011509,HP:0007737",MP:0001325
+55,OMIM:121050,"Contractural Arachnodactyly, Congenital",FBN2,Fbn2<em1(IMPC)Rbrc> hom early,52.55,"HP:0000767,HP:0006380,HP:0001239,HP:0001762,HP:0000938,HP:0002987,HP:0001181,HP:0008453,HP:0000347,HP:0002999,HP:0001653,HP:0034671,HP:0001631,HP:0001647,HP:0100490,HP:0005684,HP:0034391,HP:0001634,HP:0003066,HP:0005879,HP:0002751,HP:0000768,HP:0010499,HP:0000470,HP:0001166,HP:0003042,HP:0012385,HP:0009465,HP:0006487,HP:0001629,HP:0001840,HP:0001836,HP:0003273,HP:0001377,HP:0002650,HP:0001083","MP:0000458,MP:0001314,MP:0000559,MP:0004609,MP:0000564,MP:0005296,MP:0000572,MP:0010123,MP:0004509,MP:0005108,MP:0000274,MP:0004599,MP:0002932,MP:0010570,MP:0000266,MP:0005298,MP:0002110,MP:0003795,MP:0005270,MP:0000558,MP:0005542,MP:0000552,MP:0000150,MP:0002187"
+56,OMIM:121050,"Contractural Arachnodactyly, Congenital",FBN2,Fbn2<em1(IMPC)Rbrc> hom late,24.33,"HP:0001629,HP:0001631,HP:0001647,HP:0001634","MP:0004857,MP:0000274,MP:0000266"
+57,OMIM:121800,Schnyder Corneal Dystrophy,UBIAD1,Ubiad1<em1(IMPC)J> het early,84.21,"HP:0001131,HP:0007760",MP:0001312
+58,OMIM:124000,"Mitochondrial Complex Iii Deficiency, Nuclear Type 1",BCS1L,Bcs1l<tm1.1(KOMP)Vlcg> hom early,19.455,HP:0003811,MP:0011100
+59,OMIM:124000,"Mitochondrial Complex Iii Deficiency, Nuclear Type 1",BCS1L,Bcs1l<tm1.1(KOMP)Vlcg> hom embryo,18.115,HP:0003811,"MP:0013292,MP:0013293"
+60,OMIM:125310,"Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1",NOTCH3,Notch3<tm1.1(KOMP)Vlcg> hom early,16.85,HP:0000020,"MP:0003068,MP:0002135,MP:0003917"
+61,OMIM:125370,Dentatorubral-Pallidoluysian Atrophy,ATN1,Atn1<tm1b(EUCOMM)Wtsi> hom early,37.375,"HP:0001266,HP:0000726,HP:0001251,HP:0001332","MP:0001406,MP:0001513,MP:0001417"
+62,OMIM:125595,Dermatopathia Pigmentosa Reticularis,KRT14,Krt14<tm1.1(KOMP)Vlcg> hom embryo,25.22,HP:0012788,MP:0000111
+63,OMIM:125850,"Maturity-Onset Diabetes Of The Young, Type 1",HNF4A,Hnf4a<tm1b(EUCOMM)Hmgu> het late,30.485,HP:0004904,MP:0005355
+64,OMIM:125851,"Maturity-Onset Diabetes Of The Young, Type 2",GCK,Gck<em1(IMPC)H> het early,76.24,HP:0004904,"MP:0005293,MP:0013279,MP:0005559"
+65,OMIM:125853,Type 2 Diabetes Mellitus,MTNR1B,Mtnr1b<tm1.1(KOMP)Vlcg> hom early,64.845,"HP:0000855,HP:0005978","MP:0013279,MP:0005292"
+66,OMIM:125853,Type 2 Diabetes Mellitus,SLC2A2,Slc2a2<tm1b(KOMP)Wtsi> het early,51.175,"HP:0000855,HP:0005978",MP:0013279
+67,OMIM:125853,Type 2 Diabetes Mellitus,PDX1,Pdx1<tm1b(EUCOMM)Wtsi> het early,69.855,"HP:0000855,HP:0005978",MP:0005293
+68,OMIM:125853,Type 2 Diabetes Mellitus,HNF4A,Hnf4a<tm1b(EUCOMM)Hmgu> het late,22.95,HP:0005978,MP:0005355
+69,OMIM:125853,Type 2 Diabetes Mellitus,HNF4A,Hnf4a<tm1b(EUCOMM)Hmgu> het middle,38.575,HP:0031819,MP:0001262
+70,OMIM:125853,Type 2 Diabetes Mellitus,PPARG,Pparg<tm1b(KOMP)Wtsi> het early,44.885,"HP:0000855,HP:0005978",MP:0013279
+71,OMIM:125853,Type 2 Diabetes Mellitus,AKT2,Akt2<tm1Wcs> het early,35.54,HP:0031819,MP:0001262
+72,OMIM:125853,Type 2 Diabetes Mellitus,AKT2,Akt2<tm1Wcs> hom early,53.3,"HP:0031819,HP:0000855,HP:0005978","MP:0002078,MP:0005559,MP:0001262"
+73,OMIM:125853,Type 2 Diabetes Mellitus,GCK,Gck<em1(IMPC)H> het early,62.715,"HP:0000855,HP:0005978","MP:0005293,MP:0013279,MP:0005559"
+74,OMIM:125853,Type 2 Diabetes Mellitus,ABCC8,Abcc8<em1(IMPC)J> hom early,63.065,"HP:0000855,HP:0005978",MP:0005293
+75,OMIM:125853,Type 2 Diabetes Mellitus,ENPP1,Enpp1<em1(IMPC)Ccpcz> hom early,33.78,"HP:0031819,HP:0000855,HP:0005978","MP:0013279,MP:0001262"
+76,OMIM:128200,Episodic Kinesigenic Dyskinesia 1,PRRT2,Prrt2<tm1b(KOMP)Wtsi> hom early,38.755,"HP:0007098,HP:0002268",MP:0001489
+77,OMIM:128235,Dystonia 12,ATP1A3,Atp1a3<tm1b(EUCOMM)Hmgu> het early,50.56,"HP:0002317,HP:0002015,HP:0000712,HP:0000716","MP:0001392,MP:0001364,MP:0001399,MP:0001415"
+78,OMIM:129200,Basan Syndrome,SMARCAD1,Smarcad1<tm1b(EUCOMM)Hmgu> hom early,20.51,HP:0008404,MP:0001510
+79,OMIM:130720,Lateral Meningocele Syndrome,NOTCH3,Notch3<tm1.1(KOMP)Vlcg> hom early,19.375,"HP:0001629,HP:0001647,HP:0000011","MP:0003068,MP:0002135,MP:0002833,MP:0003917"
+80,OMIM:131760,"Epidermolysis Bullosa Simplex 1A, Generalized Severe",KRT14,Krt14<tm1.1(KOMP)Vlcg> hom embryo,30.265,"HP:0200097,HP:0001510","MP:0003984,MP:0000111"
+81,OMIM:131900,"Epidermolysis Bullosa Simplex 1B, Generalized Intermediate",KRT14,Krt14<tm1.1(KOMP)Vlcg> hom embryo,26.31,HP:0200097,MP:0000111
+82,OMIM:132450,"Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness",COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,28.79,"HP:0000160,HP:0009803,HP:0002857,HP:0002673,HP:0001156","MP:0002109,MP:0009908,MP:0000111"
+83,OMIM:134600,Fanconi Renotubular Syndrome 1,GATM,Gatm<tm1b(KOMP)Wtsi> hom early,40.165,"HP:0002148,HP:0002900","MP:0005179,MP:0005627,MP:0002966,MP:0008806,MP:0005343"
+84,OMIM:135900,Coffin-Siris Syndrome 1,ARID1B,Arid1b<em1(IMPC)Tcp> het early,24.125,"HP:0000718,HP:0000722,HP:0002066","MP:0001402,MP:0020421,MP:0020420,MP:0001417"
+85,OMIM:136140,Floating-Harbor Syndrome,SRCAP,Srcap<em1(IMPC)Wtsi> het early,30.265,"HP:0001007,HP:0004554,HP:0002162,HP:0000527",MP:0002073
+86,OMIM:136520,Foveal Hypoplasia 1,PAX6,Pax6<em1(IMPC)Mbp> het early,46.77,"HP:0007819,HP:0007750","MP:0001297,MP:0001314,MP:0001293,MP:0005542"
+87,OMIM:136520,Foveal Hypoplasia 1,PAX6,Pax6<em1(IMPC)Mbp> het embryo,41.3,HP:0007750,MP:0001297
+88,OMIM:136520,Foveal Hypoplasia 1,PAX6,Pax6<em1(IMPC)Mbp> hom embryo,37.625,HP:0007750,MP:0001293
+89,OMIM:136900,Sorsby Fundus Dystrophy,TIMP3,Timp3<tm1.1(KOMP)Vlcg> hom early,51.305,"HP:0000533,HP:0007754","MP:0010097,MP:0001325"
+90,OMIM:137200,"Neuromyotonia And Axonal Neuropathy, Autosomal Recessive",HINT1,Hint1<tm1a(EUCOMM)Wtsi> hom early,36.61,HP:0002380,MP:0000745
+91,OMIM:137600,Anterior Segment Dysgenesis 4,PITX2,Pitx2<tm1b(EUCOMM)Wtsi> het early,51.82,"HP:0007990,HP:0007730,HP:0000164","MP:0001314,MP:0002100,MP:0001319"
+92,OMIM:139090,Gray Platelet Syndrome,NBEAL2,Nbeal2<tm1a(EUCOMM)Wtsi> hom early,56.675,"HP:0011974,HP:0008320,HP:0012528,HP:0001873,HP:0011872,HP:0001744","MP:0002599,MP:0003179,MP:0000218,MP:0000063,MP:0010124"
+93,OMIM:141500,"Migraine, Familial Hemiplegic, 1",CACNA1A,Cacna1a<em1(IMPC)H> het early,32.04,HP:0000713,MP:0020421
+94,OMIM:142680,"Periodic Fever, Familial, Autosomal Dominant",TNFRSF1A,Tnfrsf1a<em1(IMPC)Ccpcz> hom early,18.18,HP:0002240,MP:0000274
+95,OMIM:143200,Wagner Vitreoretinopathy,VCAN,Vcan<em2(IMPC)Mbp> het early,54.6,"HP:0007722,HP:0007773,HP:0000533,HP:0030490,HP:0000648,HP:0030663,HP:0007643","MP:0001289,MP:0001325"
+96,OMIM:143890,"Hypercholesterolemia, Familial, 1",GHR,Ghr<tm1b(KOMP)Wtsi> het early,34.575,"HP:0001084,HP:0003141","MP:0001303,MP:0005633"
+97,OMIM:143890,"Hypercholesterolemia, Familial, 1",LDLR,Ldlr<tm1b(EUCOMM)Wtsi> hom early,34.385,"HP:0001114,HP:0003141","MP:0005178,MP:0001556,MP:0011897,MP:0008810"
+98,OMIM:145350,Hypotaurinemic Retinal Degeneration And Cardiomyopathy,SLC6A6,Slc6a6<em1(IMPC)Mbp> hom early,48.285,"HP:0025169,HP:0030609,HP:0030329,HP:0007843,HP:0007814,HP:0200070,HP:0500182,HP:0001644,HP:0007401","MP:0006243,MP:0001566,MP:0001325,MP:0005333,MP:0005565,MP:0010506"
+99,OMIM:145500,"Hypertension, Essential",ATP1B1,Atp1b1<em1(IMPC)Mbp> het early,37.87,"HP:0005117,HP:0004972,HP:0004421","MP:0010393,MP:0006203"
+100,OMIM:145900,Hypertrophic Neuropathy Of Dejerine-Sottas,MPZ,Mpz<em1(IMPC)Tcp> hom early,40.03,"HP:0003376,HP:0001308,HP:0002136","MP:0000745,MP:0001406,MP:0001402"
+101,OMIM:145900,Hypertrophic Neuropathy Of Dejerine-Sottas,PRX,Prx<em1(IMPC)Rbrc> hom early,28.805,"HP:0002136,HP:0003376",MP:0001402
+102,OMIM:145980,"Hypocalciuric Hypercalcemia, Familial, Type I",CASR,Casr<tm1b(KOMP)Mbp> het early,66.525,"HP:0001733,HP:0000843,HP:0002897,HP:0003127,HP:0002150,HP:0002918,HP:0003072","MP:0000194,MP:0001944,MP:0001566"
+103,OMIM:145981,"Hypocalciuric Hypercalcemia, Familial, Type Ii",GNA11,Gna11<tm1a(EUCOMM)Wtsi> hom early,54.275,"HP:0003072,HP:0003127,HP:0002918","MP:0002941,MP:0000194,MP:0000198,MP:0008805"
+104,OMIM:145981,"Hypocalciuric Hypercalcemia, Familial, Type Ii",GNA11,Gna11<tm1b(EUCOMM)Wtsi> hom early,19.395,HP:0000934,MP:0004609
+105,OMIM:146200,"Hypoparathyroidism, Familial Isolated, 1",PTH,Pth<tm1a(EUCOMM)Wtsi> hom early,61.04,"HP:0002905,HP:0002901,HP:0002199",MP:0000195
+106,OMIM:147480,"Cholestasis, Intrahepatic, Of Pregnancy, 1",ATP8B1,Atp8b1<em1(IMPC)Tcp> hom late,34.885,"HP:0200150,HP:0000952,HP:0200148,HP:0002910,HP:0001406","MP:0001944,MP:0002941,MP:0005627,MP:0005343,MP:0000598,MP:0005344,MP:0002968,MP:0000691,MP:0000186"
+107,OMIM:147920,Kabuki Syndrome 1,KMT2D,Kmt2d<tm1.2(IMPC)Wtsi> het early,24.82,"HP:0001973,HP:0001878,HP:0030374,HP:0410386,HP:0001744","MP:0002875,MP:0005561,MP:0000221"
+108,OMIM:147950,Hypogonadotropic Hypogonadism 2 With Or Without Anosmia,FGFR1,Fgfr1<tm1.1(KOMP)Vlcg> hom embryo,19.735,"HP:0004322,HP:0000823",MP:0003984
+109,OMIM:148050,Kbg Syndrome,ANKRD11,Ankrd11<Yod> het early,22.75,"HP:0002948,HP:0007018","MP:0001413,MP:0000063"
+110,OMIM:148050,Kbg Syndrome,ANKRD11,Ankrd11<tm1b(EUCOMM)Wtsi> het early,11.46,"HP:0000411,HP:0000358,HP:0000400",MP:0004738
+111,OMIM:148190,"Keratitis, Hereditary",PAX6,Pax6<em1(IMPC)Mbp> het early,53.59,"HP:0007759,HP:0000491","MP:0001314,MP:0005542"
+112,OMIM:150250,Larsen Syndrome,FLNB,Flnb<tm1b(KOMP)Wtsi> het early,21.435,"HP:0002779,HP:0002948,HP:0001382,HP:0006067","MP:0010124,MP:0000063"
+113,OMIM:150400,"Tooth Agenesis, Selective, 4",WNT10A,Wnt10a<tm1.1(KOMP)Vlcg> hom early,33.525,"HP:0007410,HP:0002209,HP:0045075,HP:0002231,HP:0008391,HP:0010764,HP:0001810","MP:0002075,MP:0000367,MP:0002764"
+114,OMIM:150600,Legg-Calve-Perthes Disease,COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,17.435,HP:0005743,MP:0002109
+115,OMIM:151210,"Platyspondylic Lethal Skeletal Dysplasia, Torrance Type",COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,37.87,"HP:0005619,HP:0008452,HP:0004565,HP:0000470,HP:0003300,HP:0004591",MP:0000160
+116,OMIM:151210,"Platyspondylic Lethal Skeletal Dysplasia, Torrance Type",COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,30.845,"HP:0008905,HP:0001561,HP:0002986,HP:0000947,HP:0002983,HP:0003021,HP:0009826,HP:0200083,HP:0003025,HP:0001156","MP:0002109,MP:0001785"
+117,OMIM:151660,"Lipodystrophy, Familial Partial, Type 2",LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,36.75,"HP:0003074,HP:0000831,HP:0000842,HP:0001952,HP:0005978,HP:0000347,HP:0001771,HP:0000855,HP:0012645","MP:0005292,MP:0008259,MP:0002764"
+118,OMIM:152700,Systemic Lupus Erythematosus,DNASE1,Dnase1<tm1.1(KOMP)Vlcg> hom early,12.96,"HP:0000123,HP:0033726",MP:0000538
+119,OMIM:152700,Systemic Lupus Erythematosus,TREX1,Trex1<em1(IMPC)Ccpcz> het early,27.135,"HP:0001878,HP:0000123,HP:0001701,HP:0033726,HP:0001873,HP:0001882","MP:0002135,MP:0003068,MP:0000689,MP:0000274,MP:0000691,MP:0000266"
+120,OMIM:152700,Systemic Lupus Erythematosus,TREX1,Trex1<em1(IMPC)Ccpcz> hom early,55.09,"HP:0001878,HP:0000123,HP:0001701,HP:0033726,HP:0001873,HP:0001882","MP:0002599,MP:0003917,MP:0008045,MP:0000220,MP:0010067,MP:0003179,MP:0000703,MP:0004952,MP:0013772,MP:0000689,MP:0000219,MP:0002833,MP:0000274,MP:0005016,MP:0000709,MP:0000691,MP:0000266"
+121,OMIM:154780,Marshall Syndrome,COL11A1,Col11a1<em1(IMPC)Bay> hom embryo,44.19,"HP:0006095,HP:0000179,HP:0006361,HP:0012283,HP:0006456,HP:0000193,HP:0002986,HP:0000215,HP:0000201,HP:0012284,HP:0000675,HP:0040025,HP:0000343,HP:0003031,HP:0004209,HP:0002673,HP:0000175,HP:0006407","MP:0002109,MP:0009908,MP:0000111"
+122,OMIM:156200,"Intellectual Developmental Disorder, Autosomal Dominant 1",MBD5,Mbd5<tm1b(EUCOMM)Wtsi> het early,38.045,"HP:0000718,HP:0000748,HP:0000219,HP:0001773,HP:0000232,HP:0005819,HP:0001852,HP:0008081,HP:0000347,HP:0004209,HP:0001385,HP:0004279,HP:0001251,HP:0000736","MP:0003769,MP:0001402,MP:0002764,MP:0001417"
+123,OMIM:156400,"Metaphyseal Chondrodysplasia, Jansen Type",PTH1R,Pth1r<tm1a(EUCOMM)Hmgu> het early,27.49,"HP:0000938,HP:0006380,HP:0003273","MP:0010124,MP:0010024"
+124,OMIM:156510,Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly,RUNX2,Runx2<em1(IMPC)Rbrc> het early,64.53,"HP:0003015,HP:0100255,HP:0010047,HP:0004220,HP:0005625,HP:0000926,HP:0009577,HP:0000327,HP:0005877","MP:0005298,MP:0010124,MP:0003795,MP:0004509,MP:0005270,MP:0004599,MP:0005296,MP:0000137"
+125,OMIM:156550,Kniest Dysplasia,COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,36.965,"HP:0000470,HP:0004619,HP:0000926,HP:0000272,HP:0003417","MP:0000160,MP:0000455"
+126,OMIM:156550,Kniest Dysplasia,COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,43.405,"HP:0003015,HP:0002982,HP:0002812,HP:0008905,HP:0001537,HP:0000947,HP:0006375,HP:0000023,HP:0000175,HP:0002970","MP:0002109,MP:0003385,MP:0009908,MP:0001672,MP:0001697,MP:0000111"
+127,OMIM:158300,"Arthrogryposis, Distal, Type 7",MYH8,Myh8<em1(IMPC)Tcp> het early,28.29,"HP:0010621,HP:0002827,HP:0001765,HP:0001840",MP:0000157
+128,OMIM:158320,Muir-Torre Syndrome,MLH1,Mlh1<tm1b(EUCOMM)Hmgu> hom early,17.13,"HP:0009720,HP:0100615",MP:0001147
+129,OMIM:158600,"Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant",DYNC1H1,Dync1h1<tm1dIcs> het early,39.98,HP:0002515,MP:0001402
+130,OMIM:160150,"Myopathy, Centronuclear, 1",MTMR14,Mtmr14<tm1a(KOMP)Wtsi> hom early,40.96,"HP:0008180,HP:0003236","MP:0002941,MP:0005343,MP:0008806,MP:0002944"
+131,OMIM:160150,"Myopathy, Centronuclear, 1",DNM2,Dnm2<tm1.1(KOMP)Vlcg> het early,38.445,"HP:0010628,HP:0008180,HP:0003236","MP:0002968,MP:0001102"
+132,OMIM:160565,"Myopathy, Tubular Aggregate, 1",STIM1,Stim1<em1(IMPC)Mbp> het late,28.69,HP:0000615,MP:0001304
+133,OMIM:161000,Naegeli-Franceschetti-Jadassohn Syndrome,KRT14,Krt14<tm1.1(KOMP)Vlcg> hom embryo,28.2,"HP:0000670,HP:0006480",MP:0000111
+134,OMIM:162000,"Tubulointerstitial Kidney Disease, Autosomal Dominant 1",UMOD,Umod<urehr4> hom early,46.715,"HP:0002149,HP:0003138,HP:0003259",MP:0005565
+135,OMIM:163200,Schimmelpenning-Feuerstein-Mims Syndrome,NRAS,Nras<tm1b(EUCOMM)Hmgu> het early,21.575,"HP:0004912,HP:0001167,HP:0001780","MP:0001556,MP:0002764"
+136,OMIM:164200,Oculodentodigital Dysplasia,GJA1,Gja1<em1(IMPC)Ccpcz> het early,25.2,HP:0008442,MP:0003795
+137,OMIM:164200,Oculodentodigital Dysplasia,GJA1,Gja1<em1(IMPC)Ccpcz> hom embryo,16.28,HP:0000252,MP:0011496
+138,OMIM:165550,"Optic Nerve Hypoplasia, Bilateral",PAX6,Pax6<em1(IMPC)Mbp> het early,24.115,"HP:0012521,HP:0000609","MP:0001297,MP:0001293"
+139,OMIM:165550,"Optic Nerve Hypoplasia, Bilateral",PAX6,Pax6<em1(IMPC)Mbp> het embryo,26.67,"HP:0012521,HP:0000609",MP:0001297
+140,OMIM:165550,"Optic Nerve Hypoplasia, Bilateral",PAX6,Pax6<em1(IMPC)Mbp> hom embryo,24.625,"HP:0012521,HP:0000609",MP:0001293
+141,OMIM:166210,"Osteogenesis Imperfecta, Type Ii",COL1A2,Col1a2<tm1b(EUCOMM)Wtsi> hom early,45.79,"HP:0002982,HP:0005622,HP:0005623,HP:0002644,HP:0005855,HP:0009826,HP:0002757,HP:0006367","MP:0010123,MP:0000558,MP:0000559,MP:0000062"
+142,OMIM:166220,"Osteogenesis Imperfecta, Type Iv",COL1A2,Col1a2<tm1b(EUCOMM)Wtsi> hom early,43.615,"HP:6000871,HP:0004349,HP:0005005,HP:0002757,HP:0002659,HP:0000703,HP:0003023","MP:0000559,MP:0000062,MP:0010123,MP:0010025,MP:0000558"
+143,OMIM:166250,Osteoglophonic Dysplasia,FGFR1,Fgfr1<tm1.1(KOMP)Vlcg> hom embryo,17.1,"HP:0003510,HP:0008905,HP:0001510",MP:0003984
+144,OMIM:166710,Osteoporosis,COL1A2,Col1a2<tm1b(EUCOMM)Wtsi> hom early,42.55,HP:0000939,"MP:0010123,MP:0000062"
+145,OMIM:167800,"Pancreatitis, Hereditary",CTRC,Ctrc<tm1b(EUCOMM)Hmgu> hom early,14.685,HP:0002570,MP:0009476
+146,OMIM:168600,"Parkinson Disease, Late-Onset",MAPT,Mapt<tm1b(EUCOMM)Hmgu> hom early,32.87,"HP:0000726,HP:0002015,HP:0000012,HP:0000716","MP:0008528,MP:0011941,MP:0001417"
+147,OMIM:168601,"Parkinson Disease 1, Autosomal Dominant",SNCA,Snca<em1(IMPC)H> hom early,29.91,"HP:0002362,HP:0002505,HP:0001288",MP:0001392
+148,OMIM:169400,Pelger-Huet Anomaly,LBR,Lbr<em1(IMPC)Tcp> hom early,47.45,"HP:0001761,HP:0010442,HP:0010047,HP:0009824,HP:0010041,HP:0011447,HP:0001902,HP:0001875,HP:0010044,HP:0001873,HP:0001874","MP:0002764,MP:0000556,MP:0000220,MP:0005562,MP:0002110,MP:0005016,MP:0000550,MP:0000219"
+149,OMIM:170100,Prolidase Deficiency,PEPD,Pepd<tm1a(KOMP)Wtsi> hom early,36.135,"HP:0001903,HP:0001873,HP:0001744","MP:0009923,MP:0008074,MP:0000218,MP:0013772,MP:0005562,MP:0013427,MP:0013514,MP:0010850,MP:0013430,MP:0008215,MP:0013678"
+150,OMIM:170100,Prolidase Deficiency,PEPD,Pepd<tm1b(KOMP)Wtsi> hom early,17.14,"HP:0000347,HP:0007489,HP:0000218","MP:0005333,MP:0010506,MP:0002764,MP:0002691"
+151,OMIM:170100,Prolidase Deficiency,PEPD,Pepd<tm1b(KOMP)Wtsi> hom late,29.75,"HP:0001903,HP:0007489,HP:0001873,HP:0001744","MP:0013691,MP:0000702,MP:0008174,MP:0008168,MP:0005333,MP:0010506"
+152,OMIM:170500,Hyperkalemic Periodic Paralysis,SCN4A,Scn4a<tm2b(KOMP)Wtsi> het early,26.595,"HP:6000833,HP:0002153","MP:0002966,MP:0008806"
+153,OMIM:171300,Pheochromocytoma,TMEM127,Tmem127<tm1(KOMP)Wtsi> hom early,16.33,HP:0003072,"MP:0005344,MP:0002968,MP:0005553,MP:0008806"
+154,OMIM:172700,Pick Disease Of Brain,MAPT,Mapt<tm1b(EUCOMM)Hmgu> hom early,49.615,"HP:0000748,HP:0002145,HP:0000733,HP:0000745,HP:0002591,HP:0000737,HP:0000734,HP:0030213,HP:0000741","MP:0011941,MP:0001417"
+155,OMIM:174300,Orofaciodigital Syndrome V,DDX59,Ddx59<em1(IMPC)J> het early,16.975,HP:0000574,MP:0002075
+156,OMIM:176000,"Porphyria, Acute Intermittent",HMBS,Hmbs<tm1b(EUCOMM)Hmgu> het early,26.14,HP:0000716,MP:0001399
+157,OMIM:176400,"Precocious Puberty, Central, 1",KISS1R,Kiss1r<tm1.1(KOMP)Vlcg> hom early,27.975,"HP:0008236,HP:0008232,HP:0011969","MP:0001146,MP:0004955,MP:0003558,MP:0002059,MP:0001120,MP:0001126,MP:0006415,MP:0002631,MP:0003578,MP:0004727,MP:0003642"
+158,OMIM:176410,"Precocious Puberty, Male-Limited",LHCGR,Lhcgr<tm1(KOMP)Vlcg> hom early,15.47,HP:0008734,MP:0000706
+159,OMIM:176670,Hutchinson-Gilford Progeria Syndrome,LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,15.555,HP:0000347,MP:0002764
+160,OMIM:177650,Exfoliation Syndrome,LOXL1,Loxl1<tm1.1(KOMP)Vlcg> hom early,25.26,HP:0012636,MP:0001325
+161,OMIM:178500,Interstitial Lung Disease 2,MUC5B,Muc5b<em1(IMPC)Mbp> hom early,36.505,HP:0001394,"MP:0000601,MP:0000598"
+162,OMIM:180300,Rheumatoid Arthritis,NFKBIL1,Nfkbil1<tm1a(KOMP)Wtsi> hom early,29.86,HP:0011227,MP:0005419
+163,OMIM:180500,"Axenfeld-Rieger Syndrome, Type 1",PITX2,Pitx2<tm1b(EUCOMM)Wtsi> het early,59.06,"HP:0007676,HP:0000219,HP:0000526,HP:0000677,HP:0000691,HP:0011500,HP:0000558,HP:0000047,HP:0007873,HP:0000322,HP:0000485,HP:0000327,HP:0000482,HP:0000627,HP:0000668,HP:0000824,HP:0009918","MP:0001147,MP:0001314,MP:0002100,MP:0001319"
+164,OMIM:180550,Ring Dermoid Of Cornea,PITX2,Pitx2<tm1b(EUCOMM)Wtsi> het early,58.715,"HP:0025612,HP:0500070,HP:0000502,HP:0000481,HP:0025348","MP:0001314,MP:0001319"
+165,OMIM:180750,Robinow-Sorauf Syndrome,TWIST1,Twist1<em1(IMPC)Rbrc> het early,31.775,"HP:0001822,HP:0010055,HP:0010084,HP:0011304","MP:0004509,MP:0000572,MP:0002110"
+166,OMIM:180750,Robinow-Sorauf Syndrome,TWIST1,Twist1<em1(IMPC)Rbrc> het late,34.605,"HP:0001822,HP:0010055,HP:0010084,HP:0011304","MP:0000572,MP:0002110"
+167,OMIM:180800,Roussy-Levy Hereditary Areflexic Dystasia,MPZ,Mpz<em1(IMPC)Tcp> hom early,51.16,"HP:0002345,HP:0002066,HP:0007351","MP:0000745,MP:0001406,MP:0001402"
+168,OMIM:180920,Aplasia Of Lacrimal And Salivary Glands,FGF10,Fgf10<tm1b(EUCOMM)Wtsi> het early,28.02,"HP:0007732,HP:0001092,HP:0007656",MP:0005287
+169,OMIM:181270,Scalp-Ear-Nipple Syndrome,KCTD1,Kctd1<em1(IMPC)J> hom early,38.82,"HP:0000519,HP:0009916,HP:0000822,HP:0001635,HP:0004755,HP:0000612,HP:0000518,HP:0011672","MP:0002834,MP:0006203,MP:0001304,MP:0012121,MP:0001289,MP:0005542"
+170,OMIM:181350,"Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant",LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,21.2,"HP:0011727,HP:0034681,HP:0001761,HP:0001762,HP:0003707,HP:0009053,HP:0003273,HP:0009049,HP:0001771,HP:0034671",MP:0002764
+171,OMIM:181450,Ulnar-Mammary Syndrome,TBX3,Tbx3<em1(IMPC)Mbp> het early,15.13,HP:0011675,MP:0006203
+172,OMIM:181500,Schizophrenia,COMT,Comt<tm1b(EUCOMM)Wtsi> hom early,47.33,HP:0410291,"MP:0001364,MP:0001399,MP:0020870"
+173,OMIM:181600,Huriez Syndrome,SMARCAD1,Smarcad1<tm1b(EUCOMM)Hmgu> hom early,19.27,HP:0008404,MP:0001510
+174,OMIM:182230,Septooptic Dysplasia,HESX1,Hesx1<em1(IMPC)J> hom embryo,32.145,"HP:0000609,HP:0007766",MP:0001293
+175,OMIM:182940,"Neural Tube Defects, Susceptibility To",FUZ,Fuz<em1(IMPC)Mbp> het embryo,21.35,"HP:0002475,HP:0002323,HP:0003298","MP:0001711,MP:0003231"
+176,OMIM:182940,"Neural Tube Defects, Susceptibility To",FUZ,Fuz<em1(IMPC)Mbp> hom embryo,45.73,"HP:0002475,HP:0002323,HP:0000238,HP:0003298","MP:0001711,MP:0002151,MP:0003720,MP:0003231"
+177,OMIM:182940,"Neural Tube Defects, Susceptibility To",VANGL2,Vangl2<em1(IMPC)Mbp> het embryo,17.325,"HP:0002475,HP:0002323,HP:0003298",MP:0001711
+178,OMIM:182940,"Neural Tube Defects, Susceptibility To",VANGL2,Vangl2<em1(IMPC)Mbp> hom embryo,53.535,"HP:0002475,HP:0002323,HP:0000238,HP:0003298","MP:0000914,MP:0003984,MP:0001711"
+179,OMIM:183086,Spinocerebellar Ataxia 6,CACNA1A,Cacna1a<em1(IMPC)H> het early,20.46,HP:0002015,MP:0020421
+180,OMIM:183900,Spondyloepiphyseal Dysplasia Congenita,COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,45.895,"HP:0000470,HP:0000926,HP:0003300,HP:0000272,HP:0002650,HP:0002808,HP:0002938,HP:0003311,HP:0003467","MP:0000160,MP:0000455"
+181,OMIM:183900,Spondyloepiphyseal Dysplasia Congenita,COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,40.9,"HP:0002812,HP:0000193,HP:0001762,HP:0008142,HP:0000201,HP:0000175,HP:0002318","MP:0002109,MP:0009908,MP:0001672,MP:0001697,MP:0000111"
+182,OMIM:184250,"Spondyloepimetaphyseal Dysplasia, Strudwick Type",COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,38.115,"HP:0000926,HP:0003320,HP:0003307,HP:0002650,HP:0003311",MP:0000160
+183,OMIM:184250,"Spondyloepimetaphyseal Dysplasia, Strudwick Type",COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,44.86,"HP:0002812,HP:0000023,HP:0030084,HP:0002857,HP:0006406,HP:0000175,HP:0011860,HP:0003025,HP:0001156","MP:0002109,MP:0003385,MP:0000111,MP:0009908"
+184,OMIM:184253,"Spondylometaphyseal Dysplasia, Algerian Type",COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,38.15,"HP:0002938,HP:0000926,HP:0002751",MP:0000160
+185,OMIM:184253,"Spondylometaphyseal Dysplasia, Algerian Type",COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,15.49,"HP:0030292,HP:0001498,HP:0002812,HP:0002834,HP:0100255,HP:0001248,HP:0006434,HP:0003865,HP:0002857",MP:0002109
+186,OMIM:184460,Stapes Ankylosis With Broad Thumbs And Toes,NOG,Nog<em1(IMPC)Mbp> het early,31.875,"HP:0002949,HP:0003189","MP:0000443,MP:0002759"
+187,OMIM:184460,Stapes Ankylosis With Broad Thumbs And Toes,NOG,Nog<em1(IMPC)Mbp> hom embryo,21.245,HP:0000466,MP:0002884
+188,OMIM:185000,Overhydrated Hereditary Stomatocytosis,RHAG,Rhag<em1(IMPC)Ccpcz> hom early,43.945,"HP:0005518,HP:0001878,HP:0004446,HP:0002904,HP:0001923,HP:0002240,HP:0001744","MP:0002339,MP:0000702,MP:0000703,MP:0005568,MP:0005562,MP:0005178,MP:0000274,MP:0000709"
+189,OMIM:185070,Stormorken Syndrome,STIM1,Stim1<em1(IMPC)Mbp> het early,33.48,"HP:0001903,HP:0001746,HP:0006270,HP:0001873,HP:0032550,HP:0000790","MP:0002339,MP:0000702,MP:0003068,MP:0000218,MP:0005013,MP:0000219"
+190,OMIM:185070,Stormorken Syndrome,STIM1,Stim1<em1(IMPC)Mbp> het embryo,17.73,HP:0004322,MP:0003984
+191,OMIM:185070,Stormorken Syndrome,STIM1,Stim1<em1(IMPC)Mbp> het late,37.97,"HP:0001903,HP:0001746,HP:0006270,HP:0001873,HP:0032550,HP:0000790","MP:0002989,MP:0002135,MP:0000691,MP:0000689"
+192,OMIM:186500,Multiple Synostoses Syndrome 1,NOG,Nog<em1(IMPC)Mbp> het early,26.9,"HP:0008460,HP:0000431,HP:0003416","MP:0000443,MP:0002759"
+193,OMIM:187300,"Telangiectasia, Hereditary Hemorrhagic, Type 1",ENG,Eng<em1(IMPC)Mbp> het early,17.72,"HP:0001903,HP:0001901,HP:0030049",MP:0000219
+194,OMIM:187900,"Bleeding Disorder, Platelet-Type, 17",GFI1B,Gfi1b<tm1b(EUCOMM)Hmgu> het early,23.385,"HP:0040185,HP:0001873,HP:0031965,HP:0012526","MP:0005013,MP:0000222"
+195,OMIM:187900,"Bleeding Disorder, Platelet-Type, 17",GFI1B,Gfi1b<em1(IMPC)Ccpcz> het early,30.44,"HP:0040185,HP:0031965,HP:0011974,HP:0012526,HP:0001873","MP:0000703,MP:0000709,MP:0003795,MP:0000689"
+196,OMIM:187950,Thrombocythemia 1,THPO,Thpo<tm1.1(KOMP)Vlcg> hom early,49.775,"HP:0008320,HP:0008148,HP:0001894,HP:0004866,HP:0001744","MP:0003179,MP:0002599"
+197,OMIM:188400,Digeorge Syndrome,TBX1,Tbx1<em1(IMPC)Mbp> het early,18.285,"HP:0000138,HP:0000860,HP:0000034,HP:0001397,HP:0001081,HP:0008211,HP:0000778,HP:0001744",MP:0001944
+198,OMIM:188400,Digeorge Syndrome,TBX1,Tbx1<em1(IMPC)Mbp> het embryo,15.83,HP:0001537,MP:0001711
+199,OMIM:188400,Digeorge Syndrome,TBX1,Tbx1<em1(IMPC)Mbp> hom embryo,16.445,"HP:0004322,HP:0001537","MP:0001711,MP:0003984"
+200,OMIM:188580,"Thyrotoxic Periodic Paralysis, Susceptibility To, 1",CACNA1S,Cacna1s<tm1.1(KOMP)Vlcg> hom embryo,23.945,"HP:0001962,HP:0001649",MP:0001914
+201,OMIM:189500,Witkop Syndrome,MSX1,Msx1<tm1b(KOMP)Wtsi> hom embryo,25.875,"HP:0006347,HP:0006349",MP:0000111
+202,OMIM:189800,Preeclampsia/Eclampsia 1,NOS3,Nos3<em1(IMPC)Mbp> hom early,30.31,"HP:0001873,HP:0000093","MP:0002989,MP:0002135,MP:0005011,MP:0000689,MP:0005016,MP:0000219,MP:0000691,MP:0002606"
+203,OMIM:191100,Tuberous Sclerosis 1,TSC1,Tsc1<em1(IMPC)Ccpcz> het early,20.79,"HP:0009594,HP:0009720,HP:0009727","MP:0000703,MP:0000709,MP:0002792"
+204,OMIM:192315,"Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations",TREX1,Trex1<em1(IMPC)Ccpcz> het early,21.41,"HP:0001413,HP:0000790,HP:0000093","MP:0003068,MP:0002135,MP:0000691,MP:0000689"
+205,OMIM:192315,"Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations",TREX1,Trex1<em1(IMPC)Ccpcz> hom early,30.665,"HP:0002910,HP:0001413,HP:0000790,HP:0000093","MP:0003917,MP:0000598,MP:0000689,MP:0004952,MP:0000599,MP:0000691"
+206,OMIM:192430,Velocardiofacial Syndrome,TBX1,Tbx1<em1(IMPC)Mbp> het early,16.18,"HP:0000829,HP:0000028",MP:0001944
+207,OMIM:192430,Velocardiofacial Syndrome,TBX1,Tbx1<em1(IMPC)Mbp> het embryo,17.53,HP:0001537,MP:0001711
+208,OMIM:192430,Velocardiofacial Syndrome,TBX1,Tbx1<em1(IMPC)Mbp> hom embryo,18.695,"HP:0004322,HP:0001537","MP:0001711,MP:0003984"
+209,OMIM:193100,"Hypophosphatemic Rickets, Autosomal Dominant",FGF23,Fgf23<em1(IMPC)Ccpcz> het early,40.425,"HP:0002148,HP:0004912","MP:0003020,MP:0005565,MP:0004151"
+210,OMIM:193530,Weyers Acrofacial Dysostosis,EVC2,Evc2<em1(IMPC)Mbp> hom early,27.885,"HP:0006315,HP:0000698",MP:0030610
+211,OMIM:193670,Whim Syndrome 1,CXCR4,Cxcr4<em1(IMPC)Mbp> het early,37.67,"HP:0001875,HP:0000008,HP:0000055","MP:0001146,MP:0000220,MP:0000218,MP:0005013,MP:0001148"
+212,OMIM:194380,Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema,PIEZO1,Piezo1<tm1b(KOMP)Wtsi> het early,27.125,"HP:0003641,HP:0003281","MP:0002941,MP:0000538"
+213,OMIM:194380,Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema,PIEZO1,Piezo1<tm1b(KOMP)Wtsi> hom embryo,44.325,HP:0000980,MP:0003717
+214,OMIM:200110,Ablepharon-Macrostomia Syndrome,TWIST2,Twist2<tm1.1(KOMP)Vlcg> het early,21.965,"HP:0000059,HP:0002557,HP:0000054,HP:0000062","MP:0001147,MP:0001146"
+215,OMIM:200150,Choreoacanthocytosis,VPS13A,Vps13a<tm1b(EUCOMM)Wtsi> hom early,15.735,HP:0001927,"MP:0013764,MP:0008124"
+216,OMIM:200610,"Achondrogenesis, Type Ii",COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,29.54,"HP:0000308,HP:0004605","MP:0005270,MP:0000160,MP:0000455"
+217,OMIM:200610,"Achondrogenesis, Type Ii",COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,50.285,"HP:6000866,HP:0000248,HP:0001561,HP:0000343,HP:0001248,HP:0000175,HP:0002007,HP:0000969,HP:0001789,HP:6000867","MP:0002109,MP:0011495,MP:0009908,MP:0001785,MP:0000111"
+218,OMIM:200700,Acromesomelic Dysplasia 2A,GDF5,Gdf5<em1(IMPC)H> hom early,47.095,"HP:0005792,HP:0001773,HP:0003022,HP:0011927,HP:0003038,HP:0006498,HP:0001964,HP:0009803,HP:0001162,HP:6000921,HP:0001371,HP:6000650,HP:0003086,HP:0005736,HP:0006228,HP:0005914,HP:6001052,HP:0003097,HP:0002984","MP:0000556,MP:0000572,MP:0000062,MP:0002110,MP:0000550"
+219,OMIM:201000,Carpenter Syndrome 1,RAB23,Rab23<tm1b(EUCOMM)Wtsi> het early,20.22,"HP:0001748,HP:0004443,HP:0004440,HP:0001513,HP:0004442","MP:0003961,MP:0002599,MP:0010124"
+220,OMIM:201250,Acromesomelic Dysplasia 2C,GDF5,Gdf5<em1(IMPC)H> hom early,41.15,"HP:0003022,HP:0005096,HP:0000954,HP:0003038,HP:0002986,HP:0001773,HP:0003086,HP:0005736,HP:0006014,HP:0006110,HP:0009778,HP:0002827,HP:0006144,HP:0003042,HP:0006011,HP:0002984","MP:0000550,MP:0000572,MP:0000556,MP:0002110"
+221,OMIM:201470,"Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of",ACADS,Acads<em1(IMPC)Hmgu> hom early,33.315,"HP:0001251,HP:0001254","MP:0002757,MP:0001406"
+222,OMIM:201475,"Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of",ACADVL,Acadvl<em1(IMPC)H> hom early,36.5,HP:0001958,"MP:0013278,MP:0005293"
+223,OMIM:202110,"Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency",CYP17A1,Cyp17a1<tm1b(EUCOMM)Wtsi> hom early,31.63,"HP:0000062,HP:0000037","MP:0009204,MP:0009198"
+224,OMIM:202400,"Afibrinogenemia, Congenital",FGB,Fgb<tm1.1(KOMP)Vlcg> hom early,23.59,"HP:0012223,HP:0003811","MP:0010067,MP:0011110"
+225,OMIM:203200,"Albinism, Oculocutaneous, Type Ii",MC1R,Mc1r<tm1.1(KOMP)Vlcg> hom early,58.935,"HP:0005599,HP:0007603,HP:0001010,HP:0000635,HP:0001022,HP:0002297",MP:0002075
+226,OMIM:203655,Alopecia Universalis Congenita,HR,Hr<em1(IMPC)H> hom early,33.96,"HP:0000561,HP:0002289,HP:0002555,HP:0002223,HP:0002221","MP:0002098,MP:0000367,MP:0001284"
+227,OMIM:203780,"Alport Syndrome 2, Autosomal Recessive",COL4A4,Col4a4<em1(IMPC)H> hom early,44.695,"HP:0200020,HP:0000518,HP:0011501",MP:0001304
+228,OMIM:203800,Alstrom Syndrome,ALMS1,Alms1<tm1b(EUCOMM)Hmgu> hom early,26.17,"HP:0002155,HP:0002149,HP:0003233,HP:0040217",MP:0008806
+229,OMIM:204100,Leber Congenital Amaurosis 2,RPE65,Rpe65<tm1a(EUCOMM)Hmgu> hom early,48.05,"HP:0000563,HP:0000580,HP:0007843,HP:0000518,HP:0001099,HP:0000543,HP:0030825","MP:0001317,MP:0006243,MP:0001325"
+230,OMIM:204690,"Amelogenesis Imperfecta, Type Ig",FAM20A,Fam20a<tm1b(KOMP)Wtsi> hom early,48.53,"HP:0004727,HP:0000705,HP:0000103,HP:0000212,HP:0000083,HP:0000805,HP:0006302,HP:0000169,HP:0000696,HP:0000121","MP:0002135,MP:0010025,MP:0002100"
+231,OMIM:206200,Iron-Refractory Iron Deficiency Anemia,TMPRSS6,Tmprss6<tm1b(EUCOMM)Wtsi> hom early,44.535,"HP:0011273,HP:0004447,HP:0031877,HP:0004840","MP:0000194,MP:0008045,MP:0002591,MP:0002874,MP:0005562,MP:0013648,MP:0005642,MP:0010850,MP:0008079,MP:0000208,MP:0013676"
+232,OMIM:206700,Gillespie Syndrome,ITPR1,Itpr1<tm1.1(NCOM)Mfgc> het early,17.91,"HP:0030011,HP:0000826",MP:0004930
+233,OMIM:206700,Gillespie Syndrome,ITPR1,Itpr1<tm1.1(NCOM)Mfgc> hom embryo,15.405,HP:0001510,MP:0003984
+234,OMIM:206900,"Microphthalmia, Syndromic 3",SOX2,Sox2<em1(IMPC)Mbp> het early,34.785,"HP:0000647,HP:0012521,HP:0000518,HP:0000609","MP:0010097,MP:0001325,MP:0001319,MP:0008259,MP:0002792"
+235,OMIM:206900,"Microphthalmia, Syndromic 3",SOX2,Sox2<em1(IMPC)Mbp> het embryo,17.865,"HP:0004322,HP:0008897",MP:0003984
+236,OMIM:206920,Microphthalmia With Limb Anomalies,SMOC1,Smoc1<tm1a(EUCOMM)Wtsi> het early,18.05,HP:0000499,MP:0002075
+237,OMIM:206920,Microphthalmia With Limb Anomalies,SMOC1,Smoc1<tm1b(EUCOMM)Wtsi> het early,30.44,HP:0000278,MP:0000455
+238,OMIM:206920,Microphthalmia With Limb Anomalies,SMOC1,Smoc1<tm1b(EUCOMM)Wtsi> hom early,56.845,"HP:0001762,HP:0005709,HP:0000499,HP:0003038,HP:0001440,HP:0001215,HP:0001162,HP:0010715,HP:0003196,HP:0000581,HP:0012745,HP:0001849,HP:0001852,HP:0000278,HP:0001830,HP:0005867,HP:0009380,HP:0000954,HP:0002982,HP:0002827,HP:0000494,HP:0008081,HP:0001241,HP:0001770","MP:0002764,MP:0005287,MP:0000443,MP:0002110,MP:0004509,MP:0000564,MP:0000455"
+239,OMIM:208000,"Arterial Calcification, Generalized, Of Infancy, 1",ENPP1,Enpp1<em1(IMPC)Ccpcz> hom early,43.305,"HP:0000822,HP:0001635,HP:0031013,HP:0001658,HP:0001640,HP:0004912,HP:0001644","MP:0004122,MP:0004609,MP:0002968,MP:0000274,MP:0005333,MP:0010506,MP:0000691,MP:0000266"
+240,OMIM:208085,"Arthrogryposis, Renal Dysfunction, And Cholestasis 1",VPS33B,Vps33b<tm1a(EUCOMM)Wtsi> het early,19.795,HP:0002908,MP:0001556
+241,OMIM:208250,Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome,PRG4,Prg4<em1(IMPC)Ccpcz> hom early,38.945,"HP:0001369,HP:0001239,HP:0005186,HP:0005879,HP:0003040",MP:0002932
+242,OMIM:208540,Renal-Hepatic-Pancreatic Dysplasia 1,NPHP3,Nphp3<em1(IMPC)J> hom early,20.32,HP:0003811,MP:0011110
+243,OMIM:208920,"Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia",APTX,Aptx<tm1b(EUCOMM)Hmgu> hom early,35.775,"HP:0003124,HP:0003073,HP:0003236",MP:0002941
+244,OMIM:209300,Atransferrinemia,TF,Trf<em1(IMPC)J> het early,40.47,HP:0001931,MP:0005561
+245,OMIM:209300,Atransferrinemia,TF,Trf<em1(IMPC)J> het late,39.255,HP:0001931,"MP:0002590,MP:0005561"
+246,OMIM:209300,Atransferrinemia,TF,Trf<em1(IMPC)Rbrc> het early,25.4,HP:0012239,MP:0004151
+247,OMIM:209300,Atransferrinemia,TF,Trf<em1(IMPC)Rbrc> het late,33.935,"HP:0001931,HP:0012239","MP:0012362,MP:0001565"
+248,OMIM:209500,Atrichia With Papular Lesions,HR,Hr<em1(IMPC)H> hom early,30.7,HP:0008070,"MP:0002098,MP:0000367,MP:0001284"
+249,OMIM:209885,Barber-Say Syndrome,TWIST2,Twist2<tm1.1(KOMP)Vlcg> het early,33.04,"HP:0000064,HP:0002557,HP:0002561,HP:0000059,HP:0000028","MP:0001147,MP:0001146"
+250,OMIM:209900,Bardet-Biedl Syndrome 1,CCDC28B,Ccdc28b<em1(IMPC)Bay> hom early,34.455,"HP:0000556,HP:0000546,HP:0007843,HP:0007737,HP:0030631,HP:0000510","MP:0003733,MP:0003731"
+251,OMIM:210250,Sitosterolemia 1,ABCG8,Abcg8<tm1b(KOMP)Wtsi> hom early,68.75,"HP:0004870,HP:0003124,HP:0001903,HP:0001114,HP:0004802,HP:0004446,HP:0001084,HP:0003540,HP:0020181,HP:0033341,HP:0001902,HP:0001923,HP:0008158,HP:0001873,HP:0001744","MP:0002599,MP:0002591,MP:0010067,MP:0000598,MP:0001303,MP:0008079,MP:0000691,MP:0013510,MP:0002941,MP:0005419,MP:0008207,MP:0008075,MP:0001552,MP:0005642,MP:0005178,MP:0000208,MP:0008040,MP:0005278,MP:0001304,MP:0005627,MP:0005562,MP:0005553,MP:0013513,MP:0002874,MP:0005634,MP:0000689,MP:0005018,MP:0002968,MP:0004151,MP:0000599,MP:0005343"
+252,OMIM:210720,"Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii",PCNT,Pcnt<em1(IMPC)Mbp> het early,23.68,"HP:0000047,HP:0005978,HP:0000826","MP:0002989,MP:0001146,MP:0002135,MP:0001147"
+253,OMIM:210720,"Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii",PCNT,Pcnt<em1(IMPC)Mbp> hom embryo,30.405,"HP:0003498,HP:0001511,HP:0008897",MP:0003984
+254,OMIM:211380,Elsahy-Waters Syndrome,CDH11,Cdh11<em1(IMPC)Mbp> hom early,31.14,"HP:0008689,HP:0000047,HP:0000048,HP:0000431,HP:0000808","MP:0001146,MP:0002135,MP:0003068,MP:0000443,MP:0001147"
+255,OMIM:211600,"Cholestasis, Progressive Familial Intrahepatic, 1",ATP8B1,Atp8b1<em1(IMPC)Tcp> hom early,42.095,"HP:0000938,HP:0001508,HP:0002748,HP:0001081,HP:0002240,HP:0001744","MP:0002875,MP:0011874,MP:0001157,MP:0002874,MP:0003960,MP:0000218,MP:0000063,MP:0010124,MP:0003795,MP:0000208"
+256,OMIM:211600,"Cholestasis, Progressive Familial Intrahepatic, 1",ATP8B1,Atp8b1<em1(IMPC)Tcp> hom late,58.74,"HP:0001394,HP:0006575,HP:0000421,HP:0000938,HP:0000952,HP:0001508,HP:0001744,HP:0002908,HP:0002748,HP:0002240,HP:0001081","MP:0002591,MP:0001157,MP:0000598,MP:0000691,MP:0001944,MP:0002941,MP:0000208,MP:0002875,MP:0005627,MP:0005562,MP:0003795,MP:0010506,MP:0003068,MP:0002874,MP:0003960,MP:0000063,MP:0010124,MP:0005344,MP:0002968,MP:0005333,MP:0005343,MP:0000186"
+257,OMIM:212065,"Congenital Disorder Of Glycosylation, Type Ia",PMM2,Pmm2<tm1b(EUCOMM)Hmgu> het early,21.065,"HP:0003073,HP:0003146",MP:0005565
+258,OMIM:212093,Cardiac Valvular Dysplasia 1,PLD1,Pld1<tm1b(KOMP)Wtsi> hom early,27.8,"HP:0001704,HP:0001629,HP:0001631,HP:0001642,HP:0011662,HP:0011623,HP:0001655,HP:0011555,HP:0034348,HP:0001718,HP:0001634,HP:0004762,HP:0010446,HP:0031295,HP:0034350",MP:0002833
+259,OMIM:212112,"Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism",LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,21.845,"HP:0031610,HP:0000894,HP:0034681,HP:0200021",MP:0002764
+260,OMIM:212500,"Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy",LEMD2,Lemd2<em1(IMPC)Bay> het early,45.325,HP:0001118,MP:0011959
+261,OMIM:212720,Martsolf Syndrome 1,RAB3GAP2,Rab3gap2<tm1b(KOMP)Wtsi> hom early,43.42,"HP:0000519,HP:0001635,HP:0000518,HP:0001638,HP:0000494,HP:0001695,HP:0000286","MP:0001304,MP:0005333,MP:0005287,MP:0010506"
+262,OMIM:212840,Gordon Holmes Syndrome,RNF216,Rnf216<tm1b(EUCOMM)Wtsi> hom early,30.39,"HP:0000786,HP:0000876,HP:0000044,HP:0000869",MP:0001925
+263,OMIM:213300,Joubert Syndrome 1,INPP5E,Inpp5e<tm1.1(KOMP)Vlcg> hom embryo,52.315,"HP:0002365,HP:0011933,HP:0002508,HP:0030084,HP:0001162,HP:0002195,HP:0001830,HP:0007271,HP:0002419,HP:0002335,HP:0001320","MP:0002109,MP:0003720,MP:0000562,MP:0000841,MP:0001697,MP:0000897"
+264,OMIM:213600,"Basal Ganglia Calcification, Idiopathic, 1",SLC20A2,Slc20a2<tm1a(EUCOMM)Wtsi> hom early,39.75,"HP:0001332,HP:0001337,HP:0002305,HP:0004363","MP:0002968,MP:0006358,MP:0010092"
+265,OMIM:213600,"Basal Ganglia Calcification, Idiopathic, 1",SLC20A2,Slc20a2<tm1b(EUCOMM)Wtsi> het early,37.205,"HP:0002072,HP:0002406,HP:0002305,HP:0002075",MP:0001516
+266,OMIM:213700,Cerebrotendinous Xanthomatosis,CYP27A1,Cyp27a1<tm1.1(KOMP)Vlcg> hom early,34.02,"HP:0001114,HP:0001681,HP:6000821,HP:0001658,HP:0003107,HP:0001081","MP:0005179,MP:0002644,MP:0005419,MP:0010393,MP:0002968,MP:0002981,MP:0005333,MP:0010506,MP:0000186"
+267,OMIM:214100,Peroxisome Biogenesis Disorder 1A (Zellweger),PEX1,Pex1<tm1e.1(EUCOMM)Hmgu> het early,27.195,"HP:0001401,HP:0006579,HP:0002240,HP:0001629","MP:0000598,MP:0002753"
+268,OMIM:214450,"Griscelli Syndrome, Type 1",MYO5A,Myo5a<tm1a(KOMP)Wtsi> hom early,72.565,"HP:0001008,HP:0004527,HP:0002218,HP:0002220,HP:0001010,HP:0002227,HP:0002226",MP:0002075
+269,OMIM:214500,Chediak-Higashi Syndrome,LYST,Lyst<tm1b(EUCOMM)Wtsi> hom early,51.89,"HP:0001104,HP:0001903,HP:0011993,HP:0007730,HP:0005599,HP:0002218,HP:0001288,HP:0032499,HP:0012484,HP:0001882,HP:0001010,HP:0005592,HP:0012156,HP:0001875,HP:0001107,HP:0001251,HP:0001873,HP:0001744","MP:0002590,MP:0001322,MP:0001402,MP:0005561,MP:0001325,MP:0002075"
+270,OMIM:215045,"Chondrodysplasia, Blomstrand Type",PTH1R,Pth1r<tm1a(EUCOMM)Hmgu> het early,31.315,"HP:0005789,HP:0004233,HP:0008108",MP:0010124
+271,OMIM:215045,"Chondrodysplasia, Blomstrand Type",PTH1R,Pth1r<tm1a(EUCOMM)Hmgu> hom early,25.555,HP:0003826,MP:0011100
+272,OMIM:215140,Greenberg Dysplasia,LBR,Lbr<em1(IMPC)Tcp> hom early,44.29,"HP:0008479,HP:0000878,HP:0000347,HP:0005019,HP:0041159,HP:0001156,HP:0010655,HP:0006646,HP:0004599,HP:0010049,HP:0006619,HP:0001169,HP:0009803,HP:0003026,HP:0004598,HP:0001162,HP:0003015,HP:0001433,HP:0008905,HP:0003811,HP:0005528,HP:0009381,HP:0009487,HP:0002694,HP:0001883,HP:0001830,HP:0004331,HP:0003826,HP:0000773,HP:0005807,HP:0004510,HP:0011986,HP:0002983,HP:0010659,HP:0012789,HP:0003021,HP:0005855,HP:0030721,HP:0002757,HP:0003027","MP:0011110,MP:0002764,MP:0000556,MP:0000702,MP:0000220,MP:0005562,MP:0002110,MP:0001147,MP:0000063,MP:0010124,MP:0003795,MP:0005016,MP:0000550,MP:0000219"
+273,OMIM:216400,Cockayne Syndrome A,ERCC8,Ercc8<em1(IMPC)H> hom early,25.145,"HP:0001251,HP:0001288",MP:0001392
+274,OMIM:216550,Cohen Syndrome,VPS13B,Vps13b<em1(IMPC)Tcp> hom early,41.245,"HP:0008915,HP:0001518,HP:0001634,HP:0001956,HP:0001875,HP:0001882","MP:0002590,MP:0000692,MP:0003961,MP:0002188,MP:0005016,MP:0000221"
+275,OMIM:218330,Cranioectodermal Dysplasia 1,IFT122,Ift122<tm1a(EUCOMM)Wtsi> het early,35.355,"HP:0005792,HP:0003071,HP:0032612,HP:0001831,HP:0008905,HP:0002901,HP:0009882,HP:0003038,HP:0001837,HP:0030084,HP:0009466,HP:0009880,HP:0001156","MP:0004357,MP:0005343"
+276,OMIM:218400,"Craniometaphyseal Dysplasia, Autosomal Recessive",GJA1,Gja1<em1(IMPC)Ccpcz> het early,25.19,"HP:0009772,HP:0005465",MP:0003795
+277,OMIM:218400,"Craniometaphyseal Dysplasia, Autosomal Recessive",GJA1,Gja1<em1(IMPC)Ccpcz> hom embryo,28.51,HP:0005465,MP:0011495
+278,OMIM:219000,Fraser Syndrome 1,FRAS1,Fras1<em1(IMPC)Ccpcz> het early,22.87,HP:0000777,MP:0000689
+279,OMIM:220100,Cystinuria,SLC3A1,Slc3a1<tm1.1(KOMP)Vlcg> hom early,37.055,"HP:0000787,HP:0000083,HP:0003131,HP:0000010,HP:0003268,HP:0003297,HP:0003532","MP:0002989,MP:0002135,MP:0011874,MP:0003917,MP:0003068,MP:0011625,MP:0009552,MP:0008528,MP:0000538"
+280,OMIM:220120,D-Glyceric Aciduria,GLYCTK,Glyctk<em1(IMPC)J> hom early,18.515,"HP:0008288,HP:6000371",MP:0002968
+281,OMIM:220290,"Deafness, Autosomal Recessive 1A",GJB3,Gjb3<tm1.1(KOMP)Vlcg> het early,36.99,HP:0000407,MP:0004738
+282,OMIM:222470,Trichohepatoenteric Syndrome 1,SKIC3,Skic3<em1(IMPC)Tcp> het early,29.95,"HP:0011031,HP:0004734,HP:0012024,HP:0003235,HP:0011877,HP:0000047,HP:0012023,HP:0003452,HP:0001894,HP:0003073,HP:0002240,HP:0001744","MP:0011874,MP:0005627,MP:0005641"
+283,OMIM:222600,Diastrophic Dysplasia,SLC26A2,Slc26a2<em1(IMPC)Bay> hom embryo,29.175,"HP:0001234,HP:0001762,HP:0009381,HP:0000175,HP:0002857,HP:0009465","MP:0002109,MP:0009908"
+284,OMIM:222700,Lysinuric Protein Intolerance,SLC7A7,Slc7a7<em1(IMPC)Bay> het early,14.875,"HP:0001956,HP:0001508",MP:0003960
+285,OMIM:222700,Lysinuric Protein Intolerance,SLC7A7,Slc7a7<em1(IMPC)Bay> hom embryo,16.245,HP:0004322,MP:0003984
+286,OMIM:223800,Dyggve-Melchior-Clausen Disease,DYM,Dym<em1(IMPC)Tcp> hom early,45.5,"HP:0001763,HP:0003183,HP:0001769,HP:0001762,HP:0000911,HP:0001156,HP:0002866,HP:0004997,HP:0010049,HP:0006450,HP:0003016,HP:0010230,HP:0008905,HP:0010743,HP:0002857,HP:0004209,HP:0008786,HP:0012385,HP:0002970,HP:0003180,HP:0001498,HP:0002982,HP:0004991,HP:0003375,HP:0000882,HP:0012428,HP:0002980,HP:0003311","MP:0010124,MP:0003795,MP:0002764,MP:0002932"
+287,OMIM:224120,"Anemia, Congenital Dyserythropoietic, Type Ia",CDAN1,Cdan1<tm1b(KOMP)Wtsi> het early,36.34,"HP:0005532,HP:0010972,HP:0001878,HP:0020122,HP:0011273,HP:0004447,HP:0001981,HP:0002904,HP:0001923,HP:0012132,HP:0001744","MP:0002941,MP:0003179"
+288,OMIM:224120,"Anemia, Congenital Dyserythropoietic, Type Ia",CDAN1,Cdan1<tm1b(KOMP)Wtsi> het embryo,17.985,HP:0001530,MP:0003984
+289,OMIM:224500,"Dystonia 2, Torsion, Autosomal Recessive",HPCA,Hpca<em1(IMPC)H> hom early,23.12,HP:0002015,MP:0001399
+290,OMIM:224500,"Dystonia 2, Torsion, Autosomal Recessive",HPCA,Hpca<em1(IMPC)H> hom late,22.495,HP:0002015,MP:0001399
+291,OMIM:224690,Meier-Gorlin Syndrome 1,ORC1,Orc1<tm1a(KOMP)Wtsi> het early,25.995,"HP:0001371,HP:0001518,HP:0009473,HP:0001508,HP:0006628,HP:0001382,HP:0012385","MP:0010123,MP:0003960,MP:0010025,MP:0000062"
+292,OMIM:224750,Schopf-Schulz-Passarge Syndrome,WNT10A,Wnt10a<tm1.1(KOMP)Vlcg> hom early,43.18,"HP:0001792,HP:0031405,HP:0000982,HP:0001816,HP:0008404,HP:0002231,HP:0008070,HP:0031454,HP:0001807,HP:0001806,HP:0011313","MP:0002075,MP:0000367,MP:0002764"
+293,OMIM:225100,"Ectopia Lentis 2, Isolated, Autosomal Recessive",ADAMTSL4,Adamtsl4<em1(IMPC)J> hom late,66.08,HP:0001083,"MP:0001304,MP:0006241,MP:0001319"
+294,OMIM:225200,Ectopia Lentis Et Pupillae,ADAMTSL4,Adamtsl4<em1(IMPC)J> hom early,41.3,HP:0000541,"MP:0001289,MP:0001325"
+295,OMIM:225200,Ectopia Lentis Et Pupillae,ADAMTSL4,Adamtsl4<em1(IMPC)J> hom late,75.12,"HP:0000518,HP:0001083,HP:0012805,HP:0009918,HP:0009917","MP:0001304,MP:0006241,MP:0001319"
+296,OMIM:225320,"Ehlers-Danlos Syndrome, Cardiac Valvular Type",COL1A2,Col1a2<tm1b(EUCOMM)Wtsi> hom early,28.425,"HP:0001848,HP:0001075,HP:0001382,HP:0001634,HP:0000023","MP:0002753,MP:0000559,MP:0000062,MP:0002833,MP:0010025,MP:0000274,MP:0000558"
+297,OMIM:225500,Ellis-Van Creveld Syndrome,EVC2,Evc2<em1(IMPC)Mbp> hom early,37.88,"HP:0000204,HP:0000047,HP:0006477,HP:0000695,HP:0000668,HP:0000684,HP:0000039,HP:0000028","MP:0001120,MP:0009709,MP:0030610,MP:0005084"
+298,OMIM:225750,Aicardi-Goutieres Syndrome 1,TREX1,Trex1<em1(IMPC)Ccpcz> het early,41.855,"HP:0001638,HP:0002240,HP:0006579,HP:0001873,HP:0001744","MP:0003068,MP:0000689,MP:0000274,MP:0000691,MP:0000266"
+299,OMIM:225750,Aicardi-Goutieres Syndrome 1,TREX1,Trex1<em1(IMPC)Ccpcz> hom early,51.58,"HP:0001638,HP:0002240,HP:0002910,HP:0006579,HP:0001873,HP:0001744","MP:0002599,MP:0010067,MP:0003179,MP:0004952,MP:0000598,MP:0000709,MP:0000691,MP:0000703,MP:0000274,MP:0000266,MP:0003917,MP:0008045,MP:0002833,MP:0000219,MP:0000220,MP:0013772,MP:0000689,MP:0005016,MP:0000599"
+300,OMIM:226200,Enterokinase Deficiency,TMPRSS15,Tmprss15<tm1a(KOMP)Wtsi> hom early,44.07,"HP:0003075,HP:0001508","MP:0005565,MP:0005633,MP:0001262,MP:0008806"
+301,OMIM:226650,"Epidermolysis Bullosa, Junctional 1A, Intermediate",LAMB3,Lamb3<tm1b(KOMP)Wtsi> hom early,55.72,"HP:0200097,HP:0000668,HP:0000670,HP:0006297",MP:0002100
+302,OMIM:226700,"Epidermolysis Bullosa, Junctional 1B, Severe",LAMB3,Lamb3<tm1b(KOMP)Wtsi> hom early,48.095,"HP:0006297,HP:0000670",MP:0002100
+303,OMIM:226900,"Epiphyseal Dysplasia, Multiple, 4",SLC26A2,Slc26a2<em1(IMPC)Bay> hom embryo,22.345,"HP:0003370,HP:0010049,HP:0001762,HP:0008802,HP:0001156",MP:0002109
+304,OMIM:226990,Immunodeficiency 32B,IRF8,Irf8<tm1b(KOMP)Wtsi> hom early,55.575,"HP:0001903,HP:0003203,HP:0012312,HP:0001880,HP:0011897,HP:0003073,HP:0001873,HP:0001744","MP:0002875,MP:0002590,MP:0003179,MP:0005633,MP:0005561,MP:0005568"
+305,OMIM:227646,"Fanconi Anemia, Complementation Group D2",FANCD2,Fancd2<em1(IMPC)Hmgu> het early,18.78,"HP:0000054,HP:0000086,HP:0000085,HP:0000125",MP:0002989
+306,OMIM:227810,Fanconi-Bickel Syndrome,SLC2A2,Slc2a2<tm1b(KOMP)Wtsi> het early,41.65,"HP:0002148,HP:0012202,HP:0011998,HP:0002150,HP:0003537,HP:0012024,HP:0002904,HP:0003076,HP:0003162,HP:0002900","MP:0006353,MP:0013279"
+307,OMIM:228520,Fibrochondrogenesis 1,COL11A1,Col11a1<em1(IMPC)Bay> het early,18.015,HP:0001655,MP:0010579
+308,OMIM:228520,Fibrochondrogenesis 1,COL11A1,Col11a1<em1(IMPC)Bay> hom early,22.485,HP:0003826,MP:0011100
+309,OMIM:228520,Fibrochondrogenesis 1,COL11A1,Col11a1<em1(IMPC)Bay> hom embryo,41.545,"HP:0200055,HP:0008905,HP:0003038,HP:0001773,HP:0000947,HP:0000160,HP:0000343,HP:0004209,HP:0000175,HP:0012385,HP:0004279","MP:0002109,MP:0009908,MP:0000111"
+310,OMIM:228900,Acromesomelic Dysplasia 2B,GDF5,Gdf5<em1(IMPC)H> hom early,41.655,"HP:0008119,HP:0008905,HP:0010049,HP:0002990,HP:0003038,HP:0010760,HP:0009803,HP:0010743,HP:0001156,HP:0006092,HP:0004097","MP:0000550,MP:0000572,MP:0000556,MP:0002110"
+311,OMIM:229050,"Folate Malabsorption, Hereditary",SLC46A1,Slc46a1<tm1b(KOMP)Mbp> hom early,29.435,"HP:0001251,HP:0002305",MP:0001402
+312,OMIM:229200,Brittle Cornea Syndrome 1,ZNF469,Zfp469<em1(IMPC)Mbp> hom early,34.61,"HP:0000563,HP:0100689,HP:0001119,HP:0000365,HP:0000481","MP:0001304,MP:0004738"
+313,OMIM:230000,Fucosidosis,FUCA1,Fuca1<em1(IMPC)J> hom early,26.32,"HP:0001268,HP:0000365,HP:0000369","MP:0004738,MP:0001417"
+314,OMIM:230800,"Gaucher Disease, Type I",GBA1,Gba1<em1(IMPC)H> het early,19.99,"HP:0000822,HP:0000421,HP:0001650,HP:0001653,HP:0002092",MP:0010392
+315,OMIM:230800,"Gaucher Disease, Type I",GBA1,Gba1<em1(IMPC)H> hom embryo,27.03,HP:0002953,MP:0004174
+316,OMIM:231005,"Gaucher Disease, Type Iiic",GBA1,Gba1<em1(IMPC)H> het early,14.33,HP:0001718,MP:0010392
+317,OMIM:231200,Bernard-Soulier Syndrome,GP9,Gp9<tm1.1(KOMP)Vlcg> hom early,66.905,"HP:0040185,HP:0001902,HP:0011871,HP:0001873","MP:0002599,MP:0002606"
+318,OMIM:231200,Bernard-Soulier Syndrome,GP1BB,Gp1bb<tm1.1(KOMP)Vlcg> hom early,68.06,"HP:0040185,HP:0000132,HP:0011871,HP:0001902,HP:0001873","MP:0002590,MP:0003179,MP:0002599,MP:0001147"
+319,OMIM:231670,Glutaric Acidemia I,GCDH,Gcdh<tm2b(EUCOMM)Hmgu> hom early,40.86,"HP:0033442,HP:0001943,HP:0003530","MP:0005632,MP:0005567,MP:0002966,MP:0005560"
+320,OMIM:231680,Multiple Acyl-Coa Dehydrogenase Deficiency,ETFDH,Etfdh<tm1b(EUCOMM)Hmgu> het early,33.08,HP:0000519,MP:0001303
+321,OMIM:231680,Multiple Acyl-Coa Dehydrogenase Deficiency,ETFDH,Etfdh<tm1b(EUCOMM)Hmgu> hom early,21.845,HP:0003811,MP:0011100
+322,OMIM:231680,Multiple Acyl-Coa Dehydrogenase Deficiency,ETFA,Etfa<em1(IMPC)J> hom early,21.845,HP:0003811,MP:0011100
+323,OMIM:231680,Multiple Acyl-Coa Dehydrogenase Deficiency,ETFB,Etfb<em1(IMPC)Hmgu> het early,21.335,"HP:0000952,HP:0002240,HP:0002614,HP:0001397","MP:0002833,MP:0004952"
+324,OMIM:231680,Multiple Acyl-Coa Dehydrogenase Deficiency,ETFB,Etfb<em1(IMPC)Hmgu> hom early,21.845,HP:0003811,MP:0011100
+325,OMIM:232400,Glycogen Storage Disease Iii,AGL,Agl<tm1b(EUCOMM)Wtsi> hom early,57.33,"HP:0001638,HP:0003077,HP:0003236,HP:0002240,HP:0001714,HP:0001943","MP:0003917,MP:0002941,MP:0005343,MP:0010090,MP:0008810,MP:0002833,MP:0005344,MP:0002968,MP:0008806,MP:0005560,MP:0013279,MP:0005178,MP:0005293"
+326,OMIM:232500,Glycogen Storage Disease Iv,GBE1,Gbe1<tm1a(KOMP)Wtsi> het early,20.425,HP:0040081,MP:0005553
+327,OMIM:232600,Glycogen Storage Disease V,PYGM,Pygm<em1(IMPC)J> hom early,40.62,"HP:0002149,HP:6000320,HP:0003236","MP:0010506,MP:0002968,MP:0005343,MP:0000195"
+328,OMIM:232800,Glycogen Storage Disease Vii,PFKM,Pfkm<em1(IMPC)Mbp> het early,27.755,"HP:0000952,HP:0001081","MP:0001146,MP:0000601,MP:0001157,MP:0002059,MP:0000598,MP:0001148"
+329,OMIM:233300,Ovarian Dysgenesis 1,FSHR,Fshr<tm1(KOMP)Vlcg> hom early,44.47,HP:0000939,"MP:0010124,MP:0000063"
+330,OMIM:233400,Perrault Syndrome 1,HSD17B4,Hsd17b4<em1(IMPC)Tcp> het late,29.085,"HP:0000133,HP:0000837","MP:0002637,MP:0002059"
+331,OMIM:233400,Perrault Syndrome 1,HSD17B4,Hsd17b4<em1(IMPC)Tcp> hom early,40.755,"HP:0002080,HP:0002066,HP:0000407,HP:0000133,HP:0000837,HP:0001251,HP:0000218","MP:0001406,MP:0002637,MP:0000642,MP:0002100,MP:0004738,MP:0001513"
+332,OMIM:233690,"Granulomatous Disease, Chronic, Autosomal Recessive, 4",CYBA,Cyba<tm1a(EUCOMM)Wtsi> hom early,23.815,"HP:0003203,HP:0005224,HP:0100523,HP:0002955,HP:0001744","MP:0002599,MP:0000218"
+333,OMIM:233700,"Granulomatous Disease, Chronic, Autosomal Recessive, 1",NCF1,Ncf1<em1(IMPC)Mbp> hom early,41.65,"HP:0001744,HP:0002716,HP:0002240,HP:0002840","MP:0003068,MP:0002339,MP:0000702"
+334,OMIM:233700,"Granulomatous Disease, Chronic, Autosomal Recessive, 1",NCF1,Ncf1<em1(IMPC)Mbp> hom late,42.185,"HP:0003203,HP:0100523,HP:0002840,HP:0002716,HP:0002955,HP:0002240,HP:0006532,HP:0001744","MP:0001175,MP:0000691,MP:0000689"
+335,OMIM:233710,"Granulomatous Disease, Chronic, Autosomal Recessive, 2",NCF2,Ncf2<tm1a(EUCOMM)Wtsi> hom early,26.86,"HP:0009789,HP:0003203,HP:0005224,HP:0100523,HP:0002955,HP:0025044,HP:0001744","MP:0002599,MP:0008045,MP:0012767,MP:0005018,MP:0000221,MP:0012765,MP:0008040,MP:0004974"
+336,OMIM:234200,Neurodegeneration With Brain Iron Accumulation 1,PANK2,Pank2<em1(IMPC)Ccpcz> hom early,32.685,"HP:0000752,HP:0100034,HP:0002015,HP:0100035,HP:0001268,HP:0008770,HP:0001927,HP:0000716,HP:0000726,HP:0003236","MP:0020421,MP:0000689,MP:0011971,MP:0001417,MP:0010850"
+337,OMIM:235400,"Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1",CFH,Cfh<tm1a(EUCOMM)Wtsi> hom early,40.705,"HP:0001923,HP:0001937,HP:0003077,HP:0001873,HP:0001981,HP:0003138,HP:0003259","MP:0001554,MP:0005561"
+338,OMIM:235510,Hennekam Lymphangiectasia-Lymphedema Syndrome 1,CCBE1,Ccbe1<em1(IMPC)Mbp> het early,20.215,HP:0000028,"MP:0001120,MP:0004906"
+339,OMIM:235510,Hennekam Lymphangiectasia-Lymphedema Syndrome 1,CCBE1,Ccbe1<em1(IMPC)Mbp> hom embryo,38.1,"HP:0001537,HP:0003298,HP:0001004,HP:0001698,HP:0002202,HP:0001790,HP:0100539","MP:0001711,MP:0003231,MP:0001785"
+340,OMIM:236500,"Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly",CEP55,Cep55<em1(IMPC)Tcp> het late,36.055,"HP:0012725,HP:0012300,HP:0000089,HP:0004691,HP:0004209,HP:0000107,HP:0001156","MP:0002989,MP:0000157"
+341,OMIM:236500,"Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly",CEP55,Cep55<em1(IMPC)Tcp> hom early,25.84,"HP:0003811,HP:0003826","MP:0011110,MP:0011100"
+342,OMIM:236680,Hydrolethalus Syndrome 1,HYLS1,Hyls1<em1(IMPC)Tcp> het early,32.21,"HP:0001762,HP:0009824,HP:0001177,HP:0010066,HP:0001162,HP:0006379",MP:0004357
+343,OMIM:236680,Hydrolethalus Syndrome 1,HYLS1,Hyls1<em1(IMPC)Tcp> hom early,19.12,HP:0003826,MP:0011100
+344,OMIM:236680,Hydrolethalus Syndrome 1,HYLS1,Hyls1<em1(IMPC)Tcp> hom embryo,29.855,"HP:0001629,HP:0001674,HP:0002323,HP:0001511,HP:0003826","MP:0003984,MP:0001700,MP:0000269,MP:0001697,MP:0013294"
+345,OMIM:237300,"Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To",CPS1,Cps1<em1(IMPC)H> het early,28.11,"HP:0005961,HP:0003572,HP:0001951,HP:0001987","MP:0005178,MP:0001556,MP:0005628"
+346,OMIM:237500,Dubin-Johnson Syndrome,ABCC2,Abcc2<tm2b(KOMP)Wtsi> hom early,63.3,HP:0002908,"MP:0002941,MP:0005178,MP:0005344,MP:0001556,MP:0005343"
+347,OMIM:238320,"Leydig Cell Hypoplasia, Type I",LHCGR,Lhcgr<tm1(KOMP)Vlcg> hom early,17.195,HP:0000837,MP:0000706
+348,OMIM:238700,"Hyperlysinemia, Type I",AASS,Aass<em1(IMPC)Tcp> hom early,12.965,"HP:0003131,HP:0034464,HP:0003268,HP:0003297,HP:0003532",MP:0011874
+349,OMIM:238970,Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome,SLC25A15,Slc25a15<tm1b(EUCOMM)Hmgu> het early,30.29,"HP:0034464,HP:0001254,HP:0001289","MP:0002135,MP:0001417"
+350,OMIM:239000,"Paget Disease Of Bone 5, Juvenile-Onset",TNFRSF11B,Tnfrsf11b<em1(IMPC)Mbp> hom early,61.305,"HP:0011001,HP:0000546,HP:0000938,HP:0003260,HP:0200056,HP:0000939,HP:0003080,HP:0002150,HP:0031013,HP:0000407,HP:0002149,HP:0000365,HP:0002905,HP:0002757,HP:0033355","MP:0002135,MP:0003068,MP:0009552,MP:0000063,MP:0001566,MP:0010124,MP:0002699,MP:0003795,MP:0004738,MP:0002968"
+351,OMIM:239200,"Hyperparathyroidism, Neonatal Severe",CASR,Casr<tm1b(KOMP)Mbp> het early,56.685,"HP:0002148,HP:0002150,HP:0003761,HP:0003072,HP:0008200,HP:0002240,HP:0001744","MP:0000194,MP:0001944,MP:0001566"
+352,OMIM:240300,"Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia",AIRE,Aire<tm1.1(NCOM)Mfgc> hom early,29.935,"HP:0006270,HP:0030629,HP:0001746,HP:0000580","MP:0000220,MP:0001325"
+353,OMIM:240600,"Glycogen Storage Disease 0, Liver",GYS2,Gys2<tm1a(KOMP)Wtsi> hom early,47.825,"HP:0011998,HP:0001998,HP:0003162",MP:0005560
+354,OMIM:240800,"Hypoglycemia, Leucine-Induced",ABCC8,Abcc8<em1(IMPC)J> hom early,38.23,"HP:0000825,HP:0001943",MP:0005293
+355,OMIM:240900,Hypoinsulinemic Hypoglycemia With Hemihypertrophy,AKT2,Akt2<tm1Wcs> het early,34.525,"HP:0001513,HP:0001520,HP:0001956","MP:0003960,MP:0001262"
+356,OMIM:240900,Hypoinsulinemic Hypoglycemia With Hemihypertrophy,AKT2,Akt2<tm1Wcs> hom early,52.015,"HP:0040216,HP:0001513,HP:0001520,HP:0001998,HP:0001956,HP:0003162,HP:0001943","MP:0002078,MP:0003960,MP:0005559,MP:0001262"
+357,OMIM:241500,"Hypophosphatasia, Infantile",ALPL,Alpl<em1(IMPC)Ccpcz> het early,22.11,"HP:0001903,HP:0002170,HP:0002150,HP:0011864,HP:0003072","MP:0004122,MP:0002966,MP:0010506,MP:0000689"
+358,OMIM:241500,"Hypophosphatasia, Infantile",ALPL,Alpl<em1(IMPC)Ccpcz> hom early,23.49,HP:0003826,MP:0011110
+359,OMIM:241510,"Hypophosphatasia, Childhood",ALPL,Alpl<em1(IMPC)Ccpcz> het early,22.51,HP:0011864,MP:0002966
+360,OMIM:241520,"Hypophosphatemic Rickets, Autosomal Recessive, 1",DMP1,Dmp1<tm1.1(KOMP)Vlcg> hom early,63.31,"HP:0002148,HP:0011001,HP:0001363,HP:0002748,HP:0004912","MP:0000198,MP:0000063,MP:0010124,MP:0003795,MP:0002968"
+361,OMIM:241600,Immunodeficiency 43,B2M,B2m<tm1b(EUCOMM)Wtsi> het early,20.98,"HP:0025347,HP:0003073,HP:0003075",MP:0001566
+362,OMIM:241800,Pallister-Hall-Like Syndrome,SMO,Smo<tm1b(KOMP)Wtsi> hom embryo,11.7,HP:0002085,"MP:0001700,MP:0001672"
+363,OMIM:242500,"Ichthyosis, Congenital, Autosomal Recessive 4B",ABCA12,Abca12<em1(IMPC)J> hom early,26.555,HP:0003811,MP:0011100
+364,OMIM:242840,Vici Syndrome,EPG5,Epg5<em1(IMPC)H> hom early,47.235,"HP:0001712,HP:0001635,HP:0002015,HP:0001638,HP:0001888,HP:0000347,HP:0001644,HP:0005407,HP:0005403,HP:0001875,HP:0000777,HP:0003236,HP:0001882","MP:0002626,MP:0002764,MP:0002941,MP:0010067,MP:0005419,MP:0000220,MP:0012362,MP:0004952,MP:0008810,MP:0000218,MP:0005013,MP:0002968,MP:0008806,MP:0005016,MP:0000219,MP:0001399,MP:0005343,MP:0002606"
+365,OMIM:242860,Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1,DNMT3B,Dnmt3b<em1(IMPC)Mbp> hom embryo,25.245,"HP:0010808,HP:0002014,HP:0004322,HP:0000158","MP:0003984,MP:0000111"
+366,OMIM:242900,Schimke Immunoosseous Dysplasia,SMARCAL1,Smarcal1<tm1a(EUCOMM)Wtsi> hom early,32.685,"HP:0002843,HP:0001903,HP:0001876,HP:0001888,HP:0001875,HP:0001873",MP:0005564
+367,OMIM:243150,Gastrointestinal Defects And Immunodeficiency Syndrome 1,TTC7A,Ttc7<em1(IMPC)J> het early,17.275,"HP:0006297,HP:0001539",MP:0010024
+368,OMIM:243300,"Cholestasis, Benign Recurrent Intrahepatic, 1",ATP8B1,Atp8b1<em1(IMPC)Tcp> hom early,20.205,"HP:0002240,HP:0000365","MP:0011874,MP:0004738"
+369,OMIM:243300,"Cholestasis, Benign Recurrent Intrahepatic, 1",ATP8B1,Atp8b1<em1(IMPC)Tcp> hom late,52.62,"HP:0001733,HP:0012202,HP:0006575,HP:0001046,HP:0002908,HP:0002240","MP:0001944,MP:0002941,MP:0005627,MP:0003068,MP:0005343,MP:0000598,MP:0005344,MP:0002968,MP:0000691,MP:0000186"
+370,OMIM:244450,Kaufman Oculocerebrofacial Syndrome,UBE3B,Ube3b<Gt(RRJ142)Byg> hom early,47.8,"HP:0001508,HP:0003146","MP:0005179,MP:0001262,MP:0000183,MP:0000186"
+371,OMIM:244450,Kaufman Oculocerebrofacial Syndrome,UBE3B,Ube3b<em1(IMPC)Bay> het early,38.73,"HP:0000543,HP:0000483,HP:0000482","MP:0011962,MP:0004222,MP:0001322,MP:0001312,MP:0003733,MP:0001303,MP:0011960,MP:0002792,MP:0001307"
+372,OMIM:245349,Pyruvate Dehydrogenase E3-Binding Protein Deficiency,PDHX,Pdhx<tm1b(EUCOMM)Hmgu> het early,31.485,HP:0000648,"MP:0010097,MP:0001325,MP:0002699,MP:0001289,MP:0002792,MP:0011965"
+373,OMIM:245400,Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria),SUCLG1,Suclg1<em2(IMPC)Bay> hom early,23.835,HP:0003811,MP:0011100
+374,OMIM:245400,Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria),SUCLG1,Suclg1<em2(IMPC)Bay> hom embryo,21.63,HP:0003811,MP:0013293
+375,OMIM:246700,Chylomicron Retention Disease,SAR1B,Sar1b<tm1a(EUCOMM)Wtsi> het early,67.89,"HP:0003563,HP:0012153,HP:0003146,HP:0002570,HP:0003073","MP:0005179,MP:0002942,MP:0005419,MP:0000183,MP:0005632,MP:0000186"
+376,OMIM:248000,"Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive",TBC1D7,Tbc1d7<em1(IMPC)Bay> het early,36.06,"HP:0008672,HP:0000716","MP:0003068,MP:0001417"
+377,OMIM:248190,"Hypomagnesemia 5, Renal, With Or Without Ocular Involvement",CLDN19,Cldn19<tm1.1(KOMP)Vlcg> hom early,29.65,"HP:0002917,HP:0002150,HP:0004363",MP:0005633
+378,OMIM:248250,"Hypomagnesemia 3, Renal",CLDN16,Cldn16<tm1a(KOMP)Wtsi> hom early,44.995,"HP:0002917,HP:0002901,HP:0002199,HP:0002150,HP:0002149,HP:0002748,HP:0002905,HP:0003259,HP:0031425,HP:0004363","MP:0010124,MP:0000194,MP:0005553,MP:0008806"
+379,OMIM:248340,3Mc Syndrome 3,COLEC10,Colec10<em2(IMPC)Tcp> hom early,27.535,"HP:0000054,HP:0100258,HP:0000048,HP:0000960,HP:0030084,HP:0002974,HP:0000808,HP:0000028","MP:0001120,MP:0002764,MP:0000137"
+380,OMIM:248370,Mandibuloacral Dysplasia With Type A Lipodystrophy,LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,40.38,"HP:0003074,HP:0000831,HP:0009882,HP:0000894,HP:0000842,HP:0009839,HP:0040270,HP:0000347,HP:0001870,HP:0002673,HP:0012385,HP:0200021","MP:0005292,MP:0002764"
+381,OMIM:248500,"Mannosidosis, Alpha B, Lysosomal",MAN2B1,Man2b1<em1(IMPC)H> hom early,23.44,"HP:0002070,HP:0002066",MP:0001402
+382,OMIM:248700,Marden-Walker Syndrome,PIEZO2,Piezo2<em2(IMPC)J> hom embryo,19.17,HP:0001511,MP:0001697
+383,OMIM:249000,"Meckel Syndrome, Type 1",MKS1,Mks1<tm1a(EUCOMM)Wtsi> het early,21.845,HP:0004639,MP:0010090
+384,OMIM:250400,"Metaphyseal Dysplasia, Spahr Type",MMP13,Mmp13<em1(IMPC)Ccpcz> hom early,54.92,"HP:0006409,HP:0005871,HP:0100255,HP:0004979,HP:0003016,HP:0002857,HP:0002979,HP:0006385",MP:0002764
+385,OMIM:250620,3-Hydroxyisobutyryl-Coa Hydrolase Deficiency,HIBCH,Hibch<em1(IMPC)Tcp> het early,12.085,HP:0003355,MP:0002135
+386,OMIM:251110,"Methylmalonic Aciduria, Cblb Type",MMAB,Mmab<em1(IMPC)Hmgu> het early,18.45,"HP:0001903,HP:0001876,HP:0001644,HP:0001875,HP:0002240,HP:0001873","MP:0010506,MP:0000689"
+387,OMIM:251300,Galloway-Mowat Syndrome 1,WDR73,Wdr73<em1(IMPC)J> het early,16.32,HP:0003073,MP:0000195
+388,OMIM:251450,Desbuquois Dysplasia 1,CANT1,Cant1<tm1b(EUCOMM)Hmgu> het early,26.295,HP:0001087,MP:0001303
+389,OMIM:251880,Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type),DGUOK,Dguok<em1(IMPC)J> hom early,15.025,HP:0001508,MP:0003961
+390,OMIM:251900,"Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy",FDX2,Fdx2<em1(IMPC)Rbrc> hom late,36.69,"HP:0000158,HP:0003535,HP:0002919,HP:0001875,HP:0002240,HP:0001935,HP:0002913","MP:0002875,MP:0003917,MP:0002874,MP:0012362,MP:0000598,MP:0004002,MP:0004952,MP:0003271,MP:0000689,MP:0000691"
+391,OMIM:252100,Orofaciodigital Syndrome Ii,NEK1,Nek1<em1(IMPC)Bay> hom early,30.945,"HP:0003015,HP:0001159,HP:0010101,HP:0003025,HP:0006136,HP:0000347,HP:0001162,HP:0001830,HP:0004209,HP:0001177,HP:0004279,HP:0001156,HP:0001841","MP:0004509,MP:0002764"
+392,OMIM:252160,"Molybdenum Cofactor Deficiency, Type B",MOCS2,Mocs2<tm1b(EUCOMM)Wtsi> het early,16.33,HP:0003537,MP:0005634
+393,OMIM:252160,"Molybdenum Cofactor Deficiency, Type B",MOCS2,Mocs2<tm1b(EUCOMM)Wtsi> hom early,21.05,HP:0003811,MP:0011100
+394,OMIM:252500,Mucolipidosis Ii Alpha/Beta,GNPTAB,Gnptab<em1(IMPC)Mbp> het early,48.46,"HP:0000105,HP:0008155,HP:0007759,HP:0000485,HP:0001640,HP:0002240,HP:0001744","MP:0001304,MP:0002135,MP:0003068"
+395,OMIM:252500,Mucolipidosis Ii Alpha/Beta,GNPTAB,Gnptab<em1(IMPC)Mbp> het late,43.885,"HP:0000105,HP:0001639,HP:0008155,HP:0001640,HP:0002240,HP:0000158,HP:0001744","MP:0002989,MP:0002135,MP:0002339,MP:0000702,MP:0002691,MP:0009552,MP:0004832,MP:0000689,MP:0000470,MP:0000274,MP:0000691,MP:0000266"
+396,OMIM:252500,Mucolipidosis Ii Alpha/Beta,GNPTAB,Gnptab<em1(IMPC)Mbp> hom embryo,19.855,"HP:0002196,HP:0001537","MP:0001711,MP:0003231,MP:0004258"
+397,OMIM:252600,Mucolipidosis Iii Alpha/Beta,GNPTAB,Gnptab<em1(IMPC)Mbp> het early,28.83,"HP:0000546,HP:0000484,HP:0008155,HP:0007759,HP:0002240,HP:0001744","MP:0001304,MP:0002699,MP:0002135,MP:0003068"
+398,OMIM:252600,Mucolipidosis Iii Alpha/Beta,GNPTAB,Gnptab<em1(IMPC)Mbp> het late,41.295,"HP:0001638,HP:0002240,HP:0008155,HP:0001744","MP:0002989,MP:0002135,MP:0002339,MP:0000702,MP:0009552,MP:0004832,MP:0000689,MP:0000274,MP:0000691,MP:0000266"
+399,OMIM:252605,Mucolipidosis Iii Gamma,GNPTG,Gnptg<em1(IMPC)Mbp> hom early,35.835,"HP:0007759,HP:0008155,HP:0003333","MP:0002989,MP:0002135,MP:0001304,MP:0002968"
+400,OMIM:252900,"Mucopolysaccharidosis, Type Iiia",SGSH,Sgsh<em3(IMPC)Tcp> hom early,43.195,"HP:0000752,HP:0001537,HP:0001387,HP:0000023,HP:0000250,HP:0001744","MP:0005505,MP:0000062,MP:0001417,MP:0010123,MP:0010025"
+401,OMIM:252930,"Mucopolysaccharidosis, Type Iiic",HGSNAT,Hgsnat<em4(IMPC)Tcp> hom early,33.25,"HP:0002159,HP:0000752,HP:0100790,HP:0002788,HP:0002333,HP:0002240,HP:0000250,HP:0001744","MP:0011874,MP:0001175,MP:0000702,MP:0001417,MP:0010123,MP:0010025"
+402,OMIM:253250,Mulibrey Nanism,TRIM37,Trim37<em1(IMPC)Marc> hom early,38.175,"HP:0000580,HP:0000935,HP:0005132,HP:0001685,HP:0001640,HP:0006297","MP:0000280,MP:0000063,MP:0001325,MP:0010124,MP:0003795,MP:0010580,MP:0010024"
+403,OMIM:253270,Holocarboxylase Synthetase Deficiency,HLCS,Hlcs<em1(IMPC)J> het early,18.63,HP:0001987,"MP:0000198,MP:0000195"
+404,OMIM:253270,Holocarboxylase Synthetase Deficiency,HLCS,Hlcs<em1(IMPC)J> het late,33.57,"HP:0001254,HP:0000737,HP:0001596","MP:0002075,MP:0001417"
+405,OMIM:253290,"Multiple Pterygium Syndrome, Lethal Type",CHRND,Chrnd<em1(IMPC)Mbp> het embryo,31.63,HP:0001511,MP:0003984
+406,OMIM:253310,Lethal Congenital Contracture Syndrome 1,GLE1,Gle1<tm1a(EUCOMM)Wtsi> hom early,24.705,HP:0003811,MP:0011100
+407,OMIM:254450,Myelofibrosis,MPL,Mpl<em1(IMPC)Ccpcz> het early,48.455,"HP:0012156,HP:0001978,HP:0005547,HP:0002240,HP:0001744","MP:0000691,MP:0000689"
+408,OMIM:254450,Myelofibrosis,MPL,Mpl<em1(IMPC)Ccpcz> hom early,57.125,"HP:0012156,HP:0001978,HP:0011974,HP:0005547,HP:0002240,HP:0001744","MP:0002397,MP:0000703,MP:0000709,MP:0000689"
+409,OMIM:254800,Myoclonic Epilepsy Of Unverricht And Lundborg,CSTB,Cstb<tm1b(EUCOMM)Wtsi> hom early,36.1,"HP:0011182,HP:0002392,HP:0001251,HP:0010850","MP:0002574,MP:0004738"
+410,OMIM:254900,"Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure",SCARB2,Scarb2<em2(IMPC)Tcp> hom early,41.475,"HP:0000093,HP:0000100,HP:0000112,HP:0000083,HP:0001895,HP:0100820,HP:0000097,HP:0003073,HP:0001873","MP:0002591,MP:0003068,MP:0005505,MP:0000218,MP:0005013,MP:0000223,MP:0000219,MP:0005565"
+411,OMIM:255700,"Myotonia Congenita, Autosomal Recessive",CLCN1,Clcn1<em1(IMPC)Mbp> hom early,20.125,HP:0002015,MP:0020870
+412,OMIM:256050,"Atelosteogenesis, Type Ii",SLC26A2,Slc26a2<em1(IMPC)Bay> hom early,24.995,HP:0003826,MP:0011100
+413,OMIM:256050,"Atelosteogenesis, Type Ii",SLC26A2,Slc26a2<em1(IMPC)Bay> hom embryo,29.315,"HP:0003864,HP:0001234,HP:0001762,HP:0005819,HP:0006375,HP:0001852,HP:0002983,HP:0009826,HP:0000175","MP:0002109,MP:0009908"
+414,OMIM:256450,"Hyperinsulinemic Hypoglycemia, Familial, 1",ABCC8,Abcc8<em1(IMPC)J> hom early,43.305,"HP:0001520,HP:0000825,HP:0002173","MP:0003960,MP:0005293"
+415,OMIM:256500,Netherton Syndrome,SPINK5,Spink5<em1(IMPC)J> het early,17.89,"HP:0045075,HP:0004779,HP:0002209,HP:0002299",MP:0001284
+416,OMIM:256520,Neu-Laxova Syndrome 1,PHGDH,Phgdh<tm1b(KOMP)Wtsi> het early,25.925,"HP:0001059,HP:0000518","MP:0001312,MP:0001314"
+417,OMIM:256520,Neu-Laxova Syndrome 1,PHGDH,Phgdh<tm1b(KOMP)Wtsi> hom early,20,"HP:0003811,HP:0003826",MP:0011100
+418,OMIM:256520,Neu-Laxova Syndrome 1,PHGDH,Phgdh<tm1b(KOMP)Wtsi> hom embryo,44.185,"HP:0002324,HP:0011451,HP:0001321,HP:0001305,HP:0001643,HP:0001196,HP:0001561,HP:0000568,HP:0003811,HP:0003826,HP:0002414,HP:0006266,HP:0001511,HP:0007430","MP:0001718,MP:0003984,MP:0001700,MP:0011496,MP:0001297,MP:0001672,MP:0000841,MP:0001697,MP:0001785,MP:0002080,MP:0003229"
+419,OMIM:256540,Galactosialidosis,CTSA,Ctsa<tm2b(EUCOMM)Hmgu> hom early,36.94,"HP:0000524,HP:0001433,HP:0003271","MP:0002590,MP:0002875,MP:0005287,MP:0000220,MP:0003179,MP:0002874,MP:0004952,MP:0005561,MP:0002833,MP:0005333,MP:0000208,MP:0010506,MP:0000691"
+420,OMIM:256700,"Neuroblastoma, Susceptibility To, 1",KIF1B,Kif1b<tm1b(KOMP)Wtsi> het early,31.61,"HP:0001903,HP:0001251","MP:0002574,MP:0005641"
+421,OMIM:256700,"Neuroblastoma, Susceptibility To, 1",KIF1B,Kif1b<tm1b(KOMP)Wtsi> hom embryo,20.295,HP:0000822,MP:0001914
+422,OMIM:256810,Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type),MPV17,Mpv17<em1(IMPC)J> hom early,35.69,"HP:0001988,HP:0012202,HP:0003231,HP:0003281,HP:0001744,HP:0003542,HP:0005978,HP:0006254,HP:0002908,HP:0001987,HP:0002904,HP:0003073,HP:0002240,HP:0001943","MP:0003179,MP:0005562,MP:0002833,MP:0005560,MP:0005565"
+423,OMIM:257220,"Niemann-Pick Disease, Type C1",NPC1,Npc1<tm1a(EUCOMM)Hmgu> het early,36.605,"HP:0001332,HP:0001982,HP:0004333,HP:0001744","MP:0000220,MP:0001488"
+424,OMIM:257220,"Niemann-Pick Disease, Type C1",NPC1,Npc1<tm1b(EUCOMM)Hmgu> het early,25.385,HP:0000726,MP:0001417
+425,OMIM:257270,"Night Blindness, Congenital Stationary, Type 1B",GRM6,Grm6<tm1b(EUCOMM)Wtsi> hom early,20.295,"HP:0007642,HP:0007737",MP:0006243
+426,OMIM:257850,"Oculodentodigital Dysplasia, Autosomal Recessive",GJA1,Gja1<em1(IMPC)Ccpcz> hom embryo,40.93,"HP:0002007,HP:0000248",MP:0011495
+427,OMIM:257920,3Mc Syndrome 1,MASP1,Masp1<tm1.1(KOMP)Vlcg> hom early,22.605,"HP:0000593,HP:0000524","MP:0005333,MP:0010506,MP:0001319"
+428,OMIM:257980,Odontoonychodermal Dysplasia,WNT10A,Wnt10a<tm1.1(KOMP)Vlcg> hom early,37.54,"HP:0007410,HP:0002209,HP:0007556,HP:0045075,HP:0000972,HP:0001798,HP:0011359,HP:0001816,HP:0001799,HP:0002231,HP:0002164,HP:0001807,HP:0002213,HP:0008391,HP:0001810","MP:0002075,MP:0000367,MP:0002764"
+429,OMIM:258150,Spermatogenic Failure 1,SYCP2,Sycp2<tm1b(EUCOMM)Hmgu> hom early,36.965,"HP:0030974,HP:0000798,HP:0003251",MP:0001147
+430,OMIM:258860,Orofaciodigital Syndrome Iv,TCTN3,Tctn3<em1(IMPC)J> hom embryo,50.87,"HP:0100259,HP:0001829,HP:0005736,HP:0001161,HP:0009381,HP:0030084,HP:0001770,HP:0001156",MP:0000562
+431,OMIM:259420,"Osteogenesis Imperfecta, Type Iii",COL1A2,Col1a2<tm1b(EUCOMM)Wtsi> hom early,47.22,"HP:0002982,HP:6000871,HP:0005474,HP:0005855,HP:0003100,HP:0002757,HP:0003179,HP:0005897,HP:0000703,HP:0003023","MP:0000559,MP:0000062,MP:0010123,MP:0010025,MP:0000558"
+432,OMIM:259450,Bruck Syndrome 1,FKBP10,Fkbp10<tm2a(EUCOMM)Wtsi> het early,37.08,"HP:0006380,HP:0000939,HP:0006466,HP:0002987,HP:0003273,HP:0001382,HP:0002659",MP:0002896
+433,OMIM:259500,Osteogenic Sarcoma,TP53,Trp53<tm1b(EUCOMM)Hmgu> hom early,27.36,HP:0009919,"MP:0001289,MP:0001325"
+434,OMIM:259600,"Multicentric Osteolysis, Nodulosis, And Arthropathy",MMP2,Mmp2<em1(IMPC)Mbp> hom early,34.685,"HP:0002753,HP:0006234,HP:0000938,HP:0008011,HP:0001495,HP:0000939,HP:0007957,HP:0001473,HP:0001504","MP:0001304,MP:0003795"
+435,OMIM:259600,"Multicentric Osteolysis, Nodulosis, And Arthropathy",MMP2,Mmp2<em1(IMPC)Mbp> hom late,30.29,"HP:0002753,HP:0006234,HP:0000938,HP:0000939,HP:0001495,HP:0001473,HP:0001504",MP:0010124
+436,OMIM:259700,"Osteopetrosis, Autosomal Recessive 1",TCIRG1,Tcirg1<em1(IMPC)Ccpcz> het early,23.49,"HP:0000648,HP:0002240,HP:0001744","MP:0002792,MP:0003917,MP:0000274"
+437,OMIM:259775,Raine Syndrome,FAM20C,Fam20c<tm1b(KOMP)Wtsi> het early,18.71,"HP:0000072,HP:0000126",MP:0002135
+438,OMIM:259775,Raine Syndrome,FAM20C,Fam20c<tm1b(KOMP)Wtsi> hom early,21.265,HP:0003811,"MP:0011110,MP:0011100"
+439,OMIM:260350,Pancreatic Cancer,ACVR1B,Acvr1b<tm1.1(KOMP)Vlcg> het early,19.39,HP:0002894,"MP:0001147,MP:0002768"
+440,OMIM:260370,Pancreatic Agenesis 1,PDX1,Pdx1<tm1b(EUCOMM)Wtsi> het early,33.25,HP:0000857,MP:0005293
+441,OMIM:260500,Papilloma Of Choroid Plexus,TP53,Trp53<tm1b(EUCOMM)Hmgu> hom early,28.26,HP:0001085,"MP:0001289,MP:0001325"
+442,OMIM:260540,Parkinson-Dementia Syndrome,MAPT,Mapt<tm1b(EUCOMM)Hmgu> hom early,28.515,HP:0000726,MP:0001417
+443,OMIM:261000,Intrinsic Factor Deficiency,CBLIF,Cblif<tm1a(KOMP)Wtsi> hom early,62.235,"HP:0031965,HP:0005518,HP:0001889,HP:0020181,HP:0200143","MP:0000194,MP:0008821,MP:0002591"
+444,OMIM:261100,Imerslund-Grasbeck Syndrome 1,CUBN,Cubn<tm1b(EUCOMM)Hmgu> het early,33.54,HP:0001889,MP:0005642
+445,OMIM:261500,Eosinophil Peroxidase Deficiency,EPX,Epx<tm1b(EUCOMM)Wtsi> hom early,33.41,HP:0034253,MP:0000220
+446,OMIM:261515,D-Bifunctional Protein Deficiency,HSD17B4,Hsd17b4<em1(IMPC)Tcp> het late,20.7,"HP:0033643,HP:0000107,HP:0002240,HP:0001408,HP:0001744","MP:0005632,MP:0011874,MP:0002059,MP:0000274"
+447,OMIM:261515,D-Bifunctional Protein Deficiency,HSD17B4,Hsd17b4<em1(IMPC)Tcp> hom early,35.105,"HP:0000762,HP:0000218,HP:0001397,HP:0001171,HP:0000343,HP:0001765,HP:0000278,HP:0000347,HP:0001396,HP:0000369,HP:0000365,HP:0002240,HP:0001408,HP:0008207,HP:0001744","MP:0000157,MP:0000642,MP:0002100,MP:0000689,MP:0004738"
+448,OMIM:261600,Phenylketonuria,PAH,Pah<em1(IMPC)Tcp> het early,38.805,"HP:0000718,HP:0000752,HP:0007018,HP:0000737,HP:0000716",MP:0001417
+449,OMIM:261600,Phenylketonuria,PAH,Pah<em1(IMPC)Tcp> hom early,47.6,"HP:0000635,HP:0000518,HP:0002286,HP:0007513","MP:0001312,MP:0002075"
+450,OMIM:261750,Glycogen Storage Disease Ixb,PHKB,Phkb<em1(IMPC)J> hom late,24.485,HP:0002149,"MP:0002941,MP:0002968,MP:0005343"
+451,OMIM:263210,Gillessen-Kaesbach-Nishimura Syndrome,ALG9,Alg9<em1(IMPC)J> het early,19.7,"HP:0000776,HP:0001371,HP:0001539",MP:0010024
+452,OMIM:263210,Gillessen-Kaesbach-Nishimura Syndrome,ALG9,Alg9<em1(IMPC)J> het late,29.095,HP:0032313,MP:0002075
+453,OMIM:263520,Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly,NEK1,Nek1<em1(IMPC)Bay> hom early,51.085,"HP:0000773,HP:0000556,HP:0003026,HP:0005766,HP:0005180,HP:0005873,HP:0005817,HP:0001177,HP:0003027,HP:0001156,HP:0001162","MP:0002764,MP:0011952,MP:0003731,MP:0004509,MP:0011965"
+454,OMIM:263700,"Porphyria, Congenital Erythropoietic",UROS,Uros<tm1a(EUCOMM)Wtsi> het early,18.925,"HP:0001744,HP:0001873,HP:6000514,HP:0001878",MP:0000218
+455,OMIM:264090,Wiedemann-Rautenstrauch Syndrome,POLR3A,Polr3a<em2(IMPC)Tcp> het early,22.28,"HP:0000047,HP:0000778,HP:0000040","MP:0011874,MP:0002599,MP:0000702"
+456,OMIM:264470,Peroxisomal Acyl-Coa Oxidase Deficiency,ACOX1,Acox1<em1(IMPC)Bay> hom early,40.515,"HP:0006555,HP:0002015,HP:0000737,HP:0002910,HP:0002240","MP:0000598,MP:0020870"
+457,OMIM:264600,Pseudovaginal Perineoscrotal Hypospadias,SRD5A2,Srd5a2<em1(IMPC)Mbp> hom early,53.615,"HP:0000054,HP:0000033,HP:0000818,HP:0000048,HP:0000051,HP:0000028","MP:0001147,MP:0001146"
+458,OMIM:264700,"Vitamin D Hydroxylation-Deficient Rickets, Type 1A",CYP27B1,Cyp27b1<tm1b(EUCOMM)Hmgu> hom early,68.415,"HP:0002753,HP:0000886,HP:0003127,HP:0000737,HP:0004492,HP:0002748,HP:0001288,HP:0002199,HP:0003029,HP:0002752,HP:0011422,HP:0003106,HP:0000897,HP:0002148,HP:0002901,HP:0010502,HP:0000920,HP:0002663,HP:0000893,HP:0002979,HP:0002982,HP:0003758,HP:0003013,HP:0003020,HP:0003021,HP:0002980,HP:0002757,HP:0006297,HP:0003025","MP:0002764,MP:0000559,MP:0005296,MP:0004509,MP:0005108,MP:0000149,MP:0002932,MP:0001402,MP:0000198,MP:0005298,MP:0001417,MP:0003795,MP:0010025,MP:0000558,MP:0000063,MP:0000195,MP:0010124,MP:0005344,MP:0002968,MP:0000552,MP:0000150,MP:0002187,MP:0005343"
+459,OMIM:265400,"Pulmonary Hypertension, Primary, 5",ATP13A3,Atp13a3<em1(IMPC)J> hom early,24.67,HP:0001667,MP:0002833
+460,OMIM:265800,Pycnodysostosis,CTSK,Ctsk<tm1b(EUCOMM)Hmgu> hom early,48.7,"HP:0011001,HP:0009839,HP:0000347,HP:0002868,HP:0002688,HP:0001156,HP:0006660","MP:0002764,MP:0000062"
+461,OMIM:266120,"Anemia, Congenital, Nonspherocytic Hemolytic, 8",NT5C3A,Nt5c3<em1(IMPC)Tcp> hom early,34.845,"HP:0001923,HP:0001878","MP:0002590,MP:0010067"
+462,OMIM:266280,Rapadilino Syndrome,RECQL4,Recql4<tm1.1(KOMP)Vlcg> het early,19.015,"HP:0000653,HP:0045075,HP:0002209",MP:0000367
+463,OMIM:267000,Perlman Syndrome,DIS3L2,Dis3l2<em1(IMPC)Bay> het early,21.325,HP:0001520,MP:0001257
+464,OMIM:267750,Knobloch Syndrome 1,COL18A1,Col18a1<tm1.1(KOMP)Vlcg> hom early,55.475,"HP:0000519,HP:0001104,HP:0007773,HP:0007843,HP:0000541,HP:0000533,HP:0000543,HP:0100019,HP:0012805,HP:0500087,HP:0009917,HP:0001251,HP:0001132,HP:0000585","MP:0005102,MP:0010097,MP:0001319,MP:0002574,MP:0001325,MP:0001303,MP:0008259,MP:0002792,MP:0006241"
+465,OMIM:268150,"Rh-Null, Regulator Type",RHAG,Rhag<em1(IMPC)Ccpcz> hom early,38.61,"HP:0001878,HP:0008282,HP:0004446","MP:0000709,MP:0000703,MP:0005568,MP:0005562,MP:0005178"
+466,OMIM:268310,"Robinow Syndrome, Autosomal Recessive 1",ROR2,Ror2<em1(IMPC)Mbp> hom embryo,42.45,"HP:0009882,HP:0002714,HP:0005648,HP:0000696,HP:0001156,HP:0011927,HP:0200055,HP:0001537,HP:0004220,HP:0006216,HP:0001837,HP:0003083,HP:0009883,HP:0011304,HP:0000158,HP:0010297,HP:0000219,HP:0005011,HP:0001159,HP:0009804,HP:0010055,HP:0010804,HP:0000202,HP:0000171,HP:0009177,HP:0012385,HP:0004279,HP:0000954,HP:0004322,HP:0000207,HP:0005914,HP:0010292,HP:0002986,HP:0006394,HP:0002827,HP:0000154,HP:0000678,HP:0000212,HP:0000189,HP:0000343,HP:0000322,HP:0030084,HP:0001853,HP:0009466,HP:0003027,HP:0002984","MP:0002109,MP:0003231,MP:0003984,MP:0000562,MP:0001711,MP:0000111"
+467,OMIM:268400,"Rothmund-Thomson Syndrome, Type 2",RECQL4,Recql4<tm1.1(KOMP)Vlcg> het early,19.73,"HP:0002209,HP:0000561,HP:0045075,HP:0001596,HP:0002223,HP:0002216,HP:0008404,HP:0008070,HP:0000653",MP:0000367
+468,OMIM:268800,Sandhoff Disease,HEXB,Hexb<tm1b(EUCOMM)Hmgu> hom early,35.44,"HP:0002380,HP:0002493,HP:0001433,HP:0002267,HP:0001257,HP:0007272,HP:0001251","MP:0000745,MP:0001406,MP:0000220,MP:0005505,MP:0001417,MP:0001392"
+469,OMIM:269250,Schneckenbecken Dysplasia,SLC35D1,Slc35d1<tm2b(EUCOMM)Hmgu> hom early,23.11,HP:0003826,MP:0011100
+470,OMIM:269250,Schneckenbecken Dysplasia,SLC35D1,Slc35d1<tm2b(EUCOMM)Hmgu> hom embryo,45.71,"HP:0008108,HP:0001537,HP:0001561,HP:0000947,HP:0001776,HP:0004233,HP:0009826,HP:0001790,HP:0000175,HP:0003025,HP:0001156","MP:0002109,MP:0009908,MP:0001697,MP:0001785,MP:0000111"
+471,OMIM:269400,Anterior Segment Dysgenesis 7,PXDN,Pxdn<em1(IMPC)J> hom early,60.42,"HP:0000647,HP:0000568,HP:0000612,HP:0000518,HP:0011483,HP:0000557,HP:0007957,HP:0000482,HP:0007700","MP:0001314,MP:0001293"
+472,OMIM:269700,"Lipodystrophy, Congenital Generalized, Type 2",BSCL2,Bscl2<tm1b(EUCOMM)Hmgu> hom early,55.23,"HP:0003809,HP:0040217,HP:0025128,HP:0001537,HP:0003758,HP:0000842,HP:0002591,HP:0002833,HP:0000877,HP:0002155,HP:0009125,HP:0005978,HP:0001176,HP:0001833,HP:0001744","MP:0002965,MP:0002764,MP:0005568,MP:0001566,MP:0011941,MP:0011939,MP:0002590,MP:0002941,MP:0005561,MP:0005178,MP:0001556,MP:0002875,MP:0003795,MP:0010025,MP:0000219,MP:0005292,MP:0000194,MP:0000220,MP:0012362,MP:0005559,MP:0010124,MP:0002968,MP:0013279,MP:0005343"
+473,OMIM:270100,"Heterotaxy, Visceral, 5, Autosomal",NODAL,Nodal<tm1b(EUCOMM)Wtsi> het early,13.915,HP:0011699,MP:0005542
+474,OMIM:270300,Peeling Skin Syndrome 1,CDSN,Cdsn<tm1b(EUCOMM)Hmgu> het early,17.275,HP:0001880,"MP:0005641,MP:0005561"
+475,OMIM:270400,Smith-Lemli-Opitz Syndrome,DHCR7,Dhcr7<em1(IMPC)Mbp> het early,37.925,"HP:0000054,HP:0001394,HP:0000047,HP:0000126,HP:0000089,HP:0001397,HP:0002611,HP:0000107,HP:0000122,HP:0000808,HP:0000074,HP:0002240,HP:0001744","MP:0002989,MP:0002135,MP:0000691,MP:0000689"
+476,OMIM:270400,Smith-Lemli-Opitz Syndrome,DHCR7,Dhcr7<em1(IMPC)Mbp> hom embryo,28.015,"HP:0004322,HP:0001511,HP:0001510",MP:0003984
+477,OMIM:270550,"Spastic Ataxia, Charlevoix-Saguenay Type",SACS,Sacs<em1(IMPC)Tcp> het early,13.685,HP:0000012,MP:0002135
+478,OMIM:270550,"Spastic Ataxia, Charlevoix-Saguenay Type",SACS,Sacs<em1(IMPC)Tcp> hom early,18.71,"HP:0001765,HP:0006150",MP:0000157
+479,OMIM:270685,"Spastic Paraplegia 17, Autosomal Dominant",BSCL2,Bscl2<tm1b(EUCOMM)Hmgu> hom early,31.92,"HP:0001761,HP:0002064,HP:0001171","MP:0001406,MP:0001402,MP:0002764"
+480,OMIM:270700,"Spastic Paraplegia 15, Autosomal Recessive",ZFYVE26,Zfyve26<em1(IMPC)J> hom early,25.375,"HP:0000712,HP:0002064,HP:0001251",MP:0002574
+481,OMIM:270800,"Spastic Paraplegia 5A, Autosomal Recessive",CYP7B1,Cyp7b1<tm1b(EUCOMM)Wtsi> hom early,25.885,HP:0000648,MP:0011965
+482,OMIM:271700,Spondyloperipheral Dysplasia,COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,42.685,"HP:0003301,HP:0000470,HP:0000926,HP:0003300,HP:0000272,HP:0002808","MP:0000160,MP:0000455"
+483,OMIM:271700,Spondyloperipheral Dysplasia,COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,16.67,"HP:0009882,HP:0001773,HP:0001156,HP:0003370,HP:0003022,HP:0005068,HP:0010049,HP:0009290,HP:0009778,HP:0010230,HP:0012106,HP:0011304,HP:0001831,HP:0004180,HP:0006110,HP:0010743,HP:0004227,HP:0004991,HP:0006144,HP:0009566",MP:0002109
+484,OMIM:271900,Canavan Disease,ASPA,Aspa<tm1b(EUCOMM)Wtsi> hom early,24.61,"HP:0002179,HP:0032273","MP:0001489,MP:0002968,MP:0001513"
+485,OMIM:271930,"Striatonigral Degeneration, Infantile",NUP62,Nup62<tm1b(KOMP)Wtsi> het early,32.845,HP:0000648,"MP:0003733,MP:0011965"
+486,OMIM:272460,Spondylocarpotarsal Synostosis Syndrome,FLNB,Flnb<tm1b(KOMP)Wtsi> het early,19.67,"HP:0003305,HP:0008368,HP:0009702,HP:0006297,HP:0002948,HP:0001377,HP:0001241,HP:0000023","MP:0010024,MP:0000063"
+487,OMIM:273900,Thrombocytopenia 3,FYB1,Fyb1<tm1b(EUCOMM)Hmgu> hom early,42.635,"HP:0001744,HP:0001873,HP:0005537",MP:0003179
+488,OMIM:274270,Dihydropyrimidine Dehydrogenase Deficiency,DPYD,Dpyd<tm1b(KOMP)Wtsi> hom early,51.615,"HP:0000752,HP:0001254","MP:0002574,MP:0001399"
+489,OMIM:274400,Thyroid Dyshormonogenesis 1,SLC5A5,Slc5a5<tm1b(KOMP)Wtsi> hom early,31.86,HP:0001254,"MP:0001399,MP:0001415,MP:0001417"
+490,OMIM:274400,Thyroid Dyshormonogenesis 1,SLC5A5,Slc5a5<tm1b(KOMP)Wtsi> hom late,24.625,HP:0001254,MP:0001417
+491,OMIM:274900,Thyroid Dyshormonogenesis 5,DUOXA2,Duoxa2<tm1b(KOMP)Wtsi> hom early,12.48,"HP:0000853,HP:0000821",MP:0005478
+492,OMIM:275900,"Spastic Paraplegia 20, Autosomal Recessive",SPART,Spart<tm2b(EUCOMM)Hmgu> hom early,31.045,HP:0000712,MP:0001417
+493,OMIM:276300,Mismatch Repair Cancer Syndrome 1,MLH1,Mlh1<tm1b(EUCOMM)Hmgu> hom early,11.25,HP:0001909,MP:0004952
+494,OMIM:276700,"Tyrosinemia, Type I",FAH,Fah<em1(IMPC)Mbp> het early,55.345,"HP:0000096,HP:0000105,HP:0001399,HP:0001394,HP:0001903,HP:0006554,HP:0001541,HP:0001402,HP:6000775,HP:0004510,HP:0000083,HP:6000598,HP:0002910,HP:0003163,HP:0001994,HP:0000121,HP:0002240,HP:0001744","MP:0002989,MP:0002135,MP:0000601,MP:0003068,MP:0000598,MP:0000689,MP:0000691"
+495,OMIM:276700,"Tyrosinemia, Type I",FAH,Fah<em1(IMPC)Mbp> het embryo,15.9,HP:0001510,MP:0003984
+496,OMIM:276700,"Tyrosinemia, Type I",FAH,Fah<em1(IMPC)Mbp> hom embryo,24.005,HP:0001541,MP:0001785
+497,OMIM:276880,Urocanase Deficiency,UROC1,Uroc1<em1(IMPC)Bay> hom early,29.285,HP:0000718,MP:0001417
+498,OMIM:276902,"Usher Syndrome, Type Iiia",CLRN1,Clrn1<tm1.1(KOMP)Vlcg> hom early,22.32,HP:0000407,MP:0004738
+499,OMIM:277380,"Methylmalonic Aciduria And Homocystinuria, Cblf Type",LMBRD1,Lmbrd1<tm1b(EUCOMM)Hmgu> het early,32.76,"HP:0001903,HP:0001889,HP:0001876,HP:0001875,HP:0001873",MP:0005562
+500,OMIM:277400,"Methylmalonic Aciduria And Homocystinuria, Cblc Type",MMACHC,Mmachc<tm1.1(NCOM)Mfgc> het early,13.455,"HP:0012120,HP:0005575,HP:0003153,HP:0000093,HP:0001919,HP:0000112,HP:0002156,HP:0000083,HP:0000790",MP:0002989
+501,OMIM:277400,"Methylmalonic Aciduria And Homocystinuria, Cblc Type",MMACHC,Mmachc<tm1.1(NCOM)Mfgc> hom embryo,42.525,HP:0000980,MP:0003717
+502,OMIM:277440,"Vitamin D-Dependent Rickets, Type 2A",VDR,Vdr<em1(IMPC)Hmgu> hom early,54.425,"HP:0002982,HP:0002753,HP:0010502,HP:0000737,HP:0003029,HP:0003013,HP:0001508,HP:0002663,HP:0002752,HP:0002980,HP:0002748,HP:0002757,HP:0002289,HP:0003025,HP:0002979,HP:0003106,HP:0001288","MP:0001406,MP:0000367,MP:0002764,MP:0003960,MP:0001402,MP:0000063,MP:0001417,MP:0002757,MP:0010124,MP:0003795,MP:0001392,MP:0002075"
+503,OMIM:277590,Weaver Syndrome,EZH2,Ezh2<tm1a(EUCOMM)Wtsi> het early,23.06,"HP:0002808,HP:0002650",MP:0004650
+504,OMIM:277700,Werner Syndrome,WRN,Wrn<em1(IMPC)Ccpcz> hom early,18.01,"HP:0040217,HP:0000135","MP:0004832,MP:0000689,MP:0001126"
+505,OMIM:280000,"Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome",PIGL,Pigl<tm1b(KOMP)Wtsi> het early,15.44,"HP:0002553,HP:0005338,HP:0002557,HP:0008070,HP:0002213",MP:0002098
+506,OMIM:300000,Opitz Gbbb Syndrome,MID1,Mid1<em1(IMPC)Mbp> hem early,23.59,"HP:0000076,HP:0010957,HP:0000054,HP:0025407,HP:0000047","MP:0003068,MP:0002135,MP:0003604"
+507,OMIM:300000,Opitz Gbbb Syndrome,MID1,Mid1<em1(IMPC)Mbp> het early,24.49,"HP:0000076,HP:0010957,HP:0000054,HP:0025407,HP:0001629,HP:0001537,HP:0000047,HP:0002015,HP:0000023","MP:0002989,MP:0002135,MP:0020421,MP:0002833,MP:0010025"
+508,OMIM:300018,"46,Xy Sex Reversal 2",NR0B1,Nr0b1<em2(IMPC)Wtsi> hem early,29.965,HP:0012245,MP:0002160
+509,OMIM:300071,"Night Blindness, Congenital Stationary, Type 2A",CACNA1F,Cacna1f<tm1.1(KOMP)Vlcg> hom early,21.045,HP:0007642,MP:0001333
+510,OMIM:300100,Adrenoleukodystrophy,ABCD1,Abcd1<tm1a(EUCOMM)Wtsi> hem early,23.765,HP:0003455,MP:0008821
+511,OMIM:300200,"Adrenal Hypoplasia, Congenital",NR0B1,Nr0b1<em2(IMPC)Wtsi> hem early,39.62,"HP:0008163,HP:0000027,HP:0002902,HP:0000044,HP:0000798,HP:0000028,HP:0000826","MP:0002965,MP:0010092,MP:0008810,MP:0000182,MP:0002160,MP:0002968"
+512,OMIM:300271,"Intellectual Developmental Disorder, X-Linked 72",RAB39B,Rab39b<em1(IMPC)Tcp> hom early,39.08,"HP:0000752,HP:0000733",MP:0020420
+513,OMIM:300280,Uruguay Faciocardiomusculoskeletal Syndrome,FHL1,Fhl1<tm1a(EUCOMM)Wtsi> hom early,18.765,"HP:0003236,HP:0032232",MP:0005179
+514,OMIM:300322,Lesch-Nyhan Syndrome,HPRT1,Hprt1<tm1a(EUCOMM)Hmgu> hem early,33.59,"HP:0001266,HP:0002149,HP:0001889","MP:0002875,MP:0001406,MP:0002590,MP:0003179,MP:0001556"
+515,OMIM:300322,Lesch-Nyhan Syndrome,HPRT1,Hprt1<tm1a(EUCOMM)Hmgu> hom early,28.945,HP:0001889,"MP:0002590,MP:0002875"
+516,OMIM:300323,"Hyperuricemia, Hprt-Related",HPRT1,Hprt1<tm1a(EUCOMM)Hmgu> hem early,21.395,HP:0002149,MP:0001556
+517,OMIM:300376,"Muscular Dystrophy, Becker Type",DMD,Dmd<em1(IMPC)Hmgu> hem early,41.535,HP:0003236,"MP:0002941,MP:0005343"
+518,OMIM:300376,"Muscular Dystrophy, Becker Type",DMD,Dmd<em1(IMPC)Hmgu> hom early,44.725,HP:0003236,"MP:0002965,MP:0002941,MP:0005568,MP:0002968,MP:0005343"
+519,OMIM:300425,"Autism, Susceptibility To, X-Linked 1",NLGN3,Nlgn3<em1(IMPC)Rbrc> hem early,58.915,"HP:0000723,HP:0000732,HP:0000733",MP:0001399
+520,OMIM:300425,"Autism, Susceptibility To, X-Linked 1",NLGN3,Nlgn3<em1(IMPC)Rbrc> hom early,63.635,"HP:0000723,HP:0000732,HP:0000733","MP:0001364,MP:0001399"
+521,OMIM:300476,"Cone-Rod Dystrophy, X-Linked, 3",CACNA1F,Cacna1f<tm1.1(KOMP)Vlcg> hom early,43.48,"HP:0000548,HP:0008002,HP:0000541,HP:0000543,HP:0030825",MP:0001333
+522,OMIM:300534,"Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type",KDM5C,Kdm5c<tm1d(EUCOMM)Hmgu> het early,17.35,"HP:0000574,HP:0002232",MP:0000367
+523,OMIM:300600,Aland Island Eye Disease,CACNA1F,Cacna1f<tm1.1(KOMP)Vlcg> hom early,37.835,"HP:0007894,HP:0007750",MP:0001333
+524,OMIM:300635,"Lymphoproliferative Syndrome, X-Linked, 2",XIAP,Xiap<tm1a(EUCOMM)Hmgu> hom early,39.895,HP:0004313,MP:0008499
+525,OMIM:300676,"Intellectual Developmental Disorder, X-Linked, Syndromic 14",UPF3B,Upf3b<em1(IMPC)Tcp> hom early,15.825,HP:0000218,MP:0000470
+526,OMIM:300695,"Scapuloperoneal Myopathy, X-Linked Dominant",FHL1,Fhl1<tm1a(EUCOMM)Wtsi> hom early,20.595,HP:0003236,MP:0005179
+527,OMIM:300696,"Myopathy, X-Linked, With Postural Muscle Atrophy",FHL1,Fhl1<tm1a(EUCOMM)Wtsi> hom early,20.635,HP:0003236,MP:0005179
+528,OMIM:300707,"Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations",CCNQ,Ccnq<tm1.1(KOMP)Vlcg> het embryo,30.085,"HP:0004322,HP:0001511,HP:0003298","MP:0003984,MP:0001697"
+529,OMIM:300717,"Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset",FHL1,Fhl1<tm1a(EUCOMM)Wtsi> hom early,22.48,HP:0003236,MP:0005179
+530,OMIM:300718,"Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset",FHL1,Fhl1<tm1a(EUCOMM)Wtsi> hom early,21.12,HP:0003236,MP:0005179
+531,OMIM:300755,"Agammaglobulinemia, X-Linked",BTK,Btk<tm1a(EUCOMM)Hmgu> hem early,41.485,"HP:0005403,HP:0001875,HP:0001903,HP:0010976","MP:0002875,MP:0008078,MP:0008074,MP:0008211"
+532,OMIM:300803,"Intellectual Developmental Disorder, X-Linked 97",ZNF711,Zfp711<em1(IMPC)J> hem late,30.68,HP:0000664,"MP:0000367,MP:0002075"
+533,OMIM:300830,"Autism, Susceptibility To, X-Linked 4",PTCHD1,Ptchd1<tm1b(KOMP)IcsOrl> hem early,73.59,"HP:0000718,HP:0100710,HP:0100034,HP:0007018","MP:0002574,MP:0001399,MP:0001415,MP:0005655"
+534,OMIM:300830,"Autism, Susceptibility To, X-Linked 4",PTCHD1,Ptchd1<tm1b(KOMP)IcsOrl> hom early,79.83,"HP:0000718,HP:0100710,HP:0100034,HP:0007018","MP:0001399,MP:0001454,MP:0001469,MP:0001415"
+535,OMIM:300842,Mcleod Syndrome,XK,Xk<tm1b(KOMP)Mbp> hom early,34.38,"HP:0020181,HP:0003236","MP:0002941,MP:0005343"
+536,OMIM:300855,Ogden Syndrome,NAA10,Naa10<em1(IMPC)Mbp> hem early,49.25,"HP:0004737,HP:0000105,HP:0001403,HP:0001901,HP:0000952,HP:0000034,HP:0045075,HP:0008734,HP:0000113,HP:0001640,HP:0001873,HP:0000527,HP:0002213,HP:0001891,HP:0001414,HP:0000028","MP:0002989,MP:0001146,MP:0002135,MP:0000692,MP:0003068,MP:0000689,MP:0001147,MP:0002075"
+537,OMIM:300855,Ogden Syndrome,NAA10,Naa10<em1(IMPC)Mbp> hem late,50.855,"HP:0000105,HP:0045075,HP:0000113,HP:0000527,HP:0004737,HP:0001631,HP:0001684,HP:0000034,HP:0001647,HP:0008734,HP:0001655,HP:0001414,HP:0000952,HP:0001640,HP:0031295,HP:0000028,HP:0001629,HP:0001403,HP:0002119,HP:0002213,HP:0011682","MP:0000639,MP:0002135,MP:0003068,MP:0002834,MP:0002059,MP:0000598,MP:0001891,MP:0004931,MP:0002075"
+538,OMIM:300855,Ogden Syndrome,NAA10,Naa10<em1(IMPC)Mbp> hem middle,27.54,"HP:0045075,HP:0002213,HP:0000527",MP:0002075
+539,OMIM:300855,Ogden Syndrome,NAA10,Naa10<em1(IMPC)Mbp> hom early,29.445,"HP:0001537,HP:0000023,HP:0000034,HP:0045075,HP:0008734,HP:0000527,HP:0002904,HP:0003717,HP:0002213,HP:0000028","MP:0002968,MP:0001120,MP:0002075,MP:0010025"
+540,OMIM:300855,Ogden Syndrome,NAA10,Naa10<em1(IMPC)Mbp> hom late,50.315,"HP:0000105,HP:0000113,HP:0004737,HP:0001631,HP:0001684,HP:0000034,HP:0001647,HP:0008734,HP:0001655,HP:0002904,HP:0001891,HP:0001414,HP:0000952,HP:0001640,HP:0031295,HP:0000028,HP:0001629,HP:0001901,HP:0001403,HP:0001873,HP:0011682","MP:0002135,MP:0003068,MP:0000689,MP:0005635,MP:0001126,MP:0000274,MP:0009709,MP:0000691,MP:0000266"
+541,OMIM:300855,Ogden Syndrome,NAA10,Naa10<em1(IMPC)Mbp> hom middle,27.54,"HP:0045075,HP:0002213,HP:0000527",MP:0002075
+542,OMIM:300860,"Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type",UBE2A,Ube2a<tm1.1(KOMP)Vlcg> hem early,36.835,"HP:0000718,HP:0100716",MP:0001399
+543,OMIM:300882,Cornelia De Lange Syndrome 5,HDAC8,Hdac8<tm1a(EUCOMM)Wtsi> hem early,20.34,HP:0001377,MP:0000063
+544,OMIM:300882,Cornelia De Lange Syndrome 5,HDAC8,Hdac8<tm1a(EUCOMM)Wtsi> hom early,20.42,HP:0001377,MP:0000063
+545,OMIM:300884,Developmental And Epileptic Encephalopathy 36,ALG13,Alg13<tm1a(KOMP)Wtsi> hom early,24.175,HP:0001371,"MP:0010024,MP:0000063"
+546,OMIM:300894,Neurodegeneration With Brain Iron Accumulation 5,WDR45,Wdr45<em1(IMPC)J> hem early,42.04,"HP:0000718,HP:0012332,HP:0001337,HP:0001332","MP:0001399,MP:0004738,MP:0001486"
+547,OMIM:300894,Neurodegeneration With Brain Iron Accumulation 5,WDR45,Wdr45<em1(IMPC)J> hem late,40.47,"HP:0000718,HP:0001337,HP:0001332","MP:0001399,MP:0001513"
+548,OMIM:300894,Neurodegeneration With Brain Iron Accumulation 5,WDR45,Wdr45<em1(IMPC)J> hom late,40.955,"HP:0000718,HP:0000726,HP:0001268","MP:0001399,MP:0001415"
+549,OMIM:300912,"Intellectual Developmental Disorder, X-Linked 98",NEXMIF,Nexmif<em1(IMPC)Tcp> hem early,43.4,"HP:0025650,HP:0000718,HP:0100023,HP:0100739,HP:0000752,HP:0003763,HP:0011927,HP:0000733,HP:0012171,HP:0001508,HP:0012172,HP:0004209,HP:0012169,HP:0000020","MP:0003961,MP:0011874,MP:0000157,MP:0001399"
+550,OMIM:300912,"Intellectual Developmental Disorder, X-Linked 98",NEXMIF,Nexmif<em1(IMPC)Tcp> het early,44.205,"HP:0025650,HP:0000718,HP:0011927,HP:0100739,HP:0000752,HP:0003763,HP:0100023,HP:0000733,HP:0012171,HP:0012172,HP:0004209,HP:0012169,HP:0000020","MP:0002989,MP:0000157,MP:0001399"
+551,OMIM:300967,"Intellectual Developmental Disorder, X-Linked, Syndromic 34",NONO,Nono<em1(IMPC)Bay> hem early,20.8,"HP:0000718,HP:0100710",MP:0001417
+552,OMIM:300967,"Intellectual Developmental Disorder, X-Linked, Syndromic 34",NONO,Nono<em1(IMPC)Bay> hom early,20.8,"HP:0000718,HP:0100710",MP:0001417
+553,OMIM:300978,Tonne-Kalscheuer Syndrome,RLIM,Rlim<em1(IMPC)Rbrc> het early,35.52,"HP:0001627,HP:0008734,HP:0000028","MP:0000703,MP:0000709,MP:0000274,MP:0000266"
+554,OMIM:300986,"Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type",HNRNPH2,Hnrnph2<em1(IMPC)J> hem early,31.785,HP:0002212,"MP:0000367,MP:0002075,MP:0001284"
+555,OMIM:300986,"Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type",HNRNPH2,Hnrnph2<em1(IMPC)J> hom early,31.39,HP:0002212,"MP:0000367,MP:0002075"
+556,OMIM:300988,Immunodeficiency 50,MSN,Msn<tm1b(EUCOMM)Hmgu> hem early,35.31,"HP:0001875,HP:0001888","MP:0002875,MP:0002874,MP:0000208,MP:0005561"
+557,OMIM:300988,Immunodeficiency 50,MSN,Msn<tm1b(EUCOMM)Hmgu> hom early,54.585,"HP:0001875,HP:0001888","MP:0002590,MP:0002875,MP:0002874,MP:0003179,MP:0005561,MP:0000221,MP:0000208"
+558,OMIM:301006,"Galloway-Mowat Syndrome 2, X-Linked",LAGE3,Lage3<em1(IMPC)Tcp> hem early,20.025,HP:0001166,MP:0000157
+559,OMIM:301008,"Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type",CNKSR2,Cnksr2<em1(IMPC)J> hom early,35.405,"HP:0100710,HP:0000752,HP:0007018",MP:0001415
+560,OMIM:301015,"Hemolytic Anemia, Congenital, X-Linked",ATP11C,Atp11c<em1(IMPC)J> hem early,43.33,HP:0001878,"MP:0002875,MP:0002590,MP:0002874,MP:0005561,MP:0000221,MP:0000208"
+561,OMIM:301015,"Hemolytic Anemia, Congenital, X-Linked",ATP11C,Atp11c<em1(IMPC)J> hom early,39.615,HP:0001878,"MP:0002875,MP:0002874,MP:0000208,MP:0000221"
+562,OMIM:301050,"Alport Syndrome 1, X-Linked",COL4A5,Col4a5<tm1b(EUCOMM)Wtsi> hem early,44.51,"HP:0000519,HP:0003774,HP:0001142,HP:0000093,HP:0002907,HP:0000123,HP:0000100,HP:0000083,HP:0011501,HP:0200020,HP:0001873","MP:0002875,MP:0002135,MP:0002591,MP:0002874,MP:0005505,MP:0000218,MP:0005562,MP:0001303,MP:0001289,MP:0000208"
+563,OMIM:301050,"Alport Syndrome 1, X-Linked",COL4A5,Col4a5<tm1b(EUCOMM)Wtsi> hom early,38.045,"HP:0003774,HP:0000093,HP:0002907,HP:0000123,HP:0000100,HP:0000083,HP:0001873","MP:0002875,MP:0002135,MP:0010067,MP:0005505,MP:0002874,MP:0012362,MP:0004952,MP:0000219,MP:0000208"
+564,OMIM:301107,"Intellectual Developmental Disorder, X-Linked 111",SLITRK2,Slitrk2<em1(IMPC)Mbp> hem early,37.945,"HP:0000718,HP:0000722,HP:0000752,HP:0100035","MP:0001415,MP:0020870"
+565,OMIM:301107,"Intellectual Developmental Disorder, X-Linked 111",SLITRK2,Slitrk2<em1(IMPC)Mbp> hom early,29.685,"HP:0000718,HP:0000752",MP:0001415
+566,OMIM:301109,"Autoinflammatory Disease, Multisystem, With Immune Dysregulation, X-Linked",DOCK11,Dock11<tm2b(KOMP)Wtsi> hem early,20.27,"HP:0000100,HP:0002240,HP:0001744",MP:0003917
+567,OMIM:301115,Immunodeficiency 118,MCTS1,Mcts1<em1(IMPC)Mbp> hem early,55.415,"HP:0002716,HP:0002240,HP:0001744",MP:0000691
+568,OMIM:301200,"Amelogenesis Imperfecta, Type Ie",AMELX,Amelx<em1(IMPC)Ccpcz> hem early,49.12,"HP:0010299,HP:0006297,HP:0009102,HP:0000705","MP:0005270,MP:0013129,MP:0030610,MP:0002100"
+569,OMIM:301200,"Amelogenesis Imperfecta, Type Ie",AMELX,Amelx<em1(IMPC)Ccpcz> het early,52.615,"HP:0010299,HP:0006297,HP:0009102,HP:0000705",MP:0002100
+570,OMIM:301200,"Amelogenesis Imperfecta, Type Ie",AMELX,Amelx<em1(IMPC)Ccpcz> hom early,55.755,"HP:0010299,HP:0006297,HP:0009102,HP:0000705","MP:0013129,MP:0030610,MP:0002100"
+571,OMIM:301900,Borjeson-Forssman-Lehmann Syndrome,PHF6,Phf6<tm1b(EUCOMM)Wtsi> het early,32.72,"HP:0000400,HP:0002353",MP:0004738
+572,OMIM:302045,"Cardiomyopathy, Dilated, 3B",DMD,Dmd<em1(IMPC)Hmgu> hem early,45.745,HP:0032232,"MP:0002941,MP:0005343"
+573,OMIM:302045,"Cardiomyopathy, Dilated, 3B",DMD,Dmd<em1(IMPC)Hmgu> hom early,48.475,HP:0032232,"MP:0002965,MP:0002941,MP:0005568,MP:0002968,MP:0005343"
+574,OMIM:302500,"Spinocerebellar Ataxia, X-Linked 1",ATP2B3,Atp2b3<em1(IMPC)J> hem late,38.755,"HP:0002317,HP:0001251","MP:0001392,MP:0001402"
+575,OMIM:302500,"Spinocerebellar Ataxia, X-Linked 1",ATP2B3,Atp2b3<em1(IMPC)J> hom early,27.915,HP:0002015,"MP:0001399,MP:0020870"
+576,OMIM:302500,"Spinocerebellar Ataxia, X-Linked 1",ATP2B3,Atp2b3<em1(IMPC)J> hom late,39.12,"HP:0002317,HP:0001251","MP:0002757,MP:0001392,MP:0001402"
+577,OMIM:304150,Occipital Horn Syndrome,ATP7A,Atp7a<em1(IMPC)J> hem early,27.57,"HP:0002208,HP:0003777",MP:0002075
+578,OMIM:304150,Occipital Horn Syndrome,ATP7A,Atp7a<em1(IMPC)J> hem late,18.525,"HP:0002208,HP:0003777",MP:0000367
+579,OMIM:304150,Occipital Horn Syndrome,ATP7A,Atp7a<em1(IMPC)J> hom early,27.57,"HP:0002208,HP:0003777",MP:0002075
+580,OMIM:304340,Pettigrew Syndrome,AP1S2,Ap1s2<em1(IMPC)Mbp> hem early,23.495,"HP:0001266,HP:0000648",MP:0006243
+581,OMIM:304340,Pettigrew Syndrome,AP1S2,Ap1s2<em1(IMPC)Mbp> hom early,34.88,"HP:0000718,HP:0001266,HP:0002066,HP:0012171,HP:0100716,HP:0000648","MP:0002574,MP:0001325"
+582,OMIM:305100,"Ectodermal Dysplasia 1, Hypohidrotic, X-Linked",EDA,Eda<em1(IMPC)Tcp> hem early,16.26,"HP:0007592,HP:0002557,HP:0002561",MP:0001944
+583,OMIM:305400,Aarskog-Scott Syndrome,FGD1,Fgd1<em1(IMPC)Tcp> hem embryo,18.935,"HP:0000823,HP:0004322,HP:0001537,HP:0003502","MP:0003984,MP:0001697"
+584,OMIM:305400,Aarskog-Scott Syndrome,FGD1,Fgd1<em1(IMPC)Tcp> het early,14.595,"HP:0011969,HP:0000028,HP:0008689,HP:0008232,HP:0000029",MP:0000709
+585,OMIM:306400,"Granulomatous Disease, Chronic, X-Linked",CYBB,Cybb<tm2b(KOMP)Wtsi> hom early,39.54,"HP:0001541,HP:0003203,HP:0100523,HP:0002840,HP:0002716,HP:0002955,HP:0002240,HP:0001744","MP:0004952,MP:0002591"
+586,OMIM:307200,"Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia",BTK,Btk<tm1a(EUCOMM)Hmgu> hem early,42.01,"HP:0030252,HP:0011839","MP:0002875,MP:0008078,MP:0008074,MP:0008211"
+587,OMIM:307800,"Hypophosphatemic Rickets, X-Linked Dominant",PHEX,Phex<not yet available> hom early,68.845,"HP:0002148,HP:0002749,HP:0002982,HP:0008144,HP:0008117,HP:0002758,HP:0010502,HP:0002644,HP:0006432,HP:0003416,HP:0002748,HP:0002857,HP:0002980,HP:0004912,HP:0003025,HP:0002979,HP:0004273,HP:0004363","MP:0002896,MP:0005627,MP:0000198,MP:0000195,MP:0008805,MP:0002968,MP:0005108,MP:0000552,MP:0004599,MP:0000558,MP:0000137,MP:0002932"
+588,OMIM:309400,Menkes Disease,ATP7A,Atp7a<em1(IMPC)J> hem early,35.31,"HP:0001596,HP:0008070,HP:0001010,HP:0002299",MP:0002075
+589,OMIM:309400,Menkes Disease,ATP7A,Atp7a<em1(IMPC)J> hem late,22.23,"HP:0001596,HP:0008070,HP:0002299",MP:0000367
+590,OMIM:309400,Menkes Disease,ATP7A,Atp7a<em1(IMPC)J> hom early,35.31,"HP:0001596,HP:0008070,HP:0001010,HP:0002299",MP:0002075
+591,OMIM:309549,"Intellectual Developmental Disorder, X-Linked 9",FTSJ1,Ftsj1<tm1b(EUCOMM)Wtsi> hom early,44.25,HP:0000718,MP:0001399
+592,OMIM:309583,"Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type",SMS,Sms<tm1a(EUCOMM)Wtsi> hem early,33.7,"HP:0002753,HP:0001187,HP:0000939,HP:0002757",MP:0000063
+593,OMIM:309800,"Microphthalmia, Syndromic 1",NAA10,Naa10<em1(IMPC)Mbp> hem early,31.28,"HP:0008678,HP:0000047,HP:0000072,HP:0000089,HP:0000028","MP:0002989,MP:0001146,MP:0002135,MP:0003068,MP:0001147"
+594,OMIM:309800,"Microphthalmia, Syndromic 1",NAA10,Naa10<em1(IMPC)Mbp> hem late,31.16,"HP:0008678,HP:0000047,HP:0000072,HP:0001647,HP:0000089,HP:0000028","MP:0000639,MP:0002135,MP:0003068,MP:0002834,MP:0002059,MP:0004931"
+595,OMIM:309800,"Microphthalmia, Syndromic 1",NAA10,Naa10<em1(IMPC)Mbp> hom early,16.68,"HP:0012385,HP:0000047,HP:0000028,HP:0009473","MP:0001120,MP:0010025"
+596,OMIM:309800,"Microphthalmia, Syndromic 1",NAA10,Naa10<em1(IMPC)Mbp> hom late,37.025,"HP:0008678,HP:0000568,HP:0000047,HP:0000072,HP:0001647,HP:0000089,HP:0000528,HP:0000028","MP:0002135,MP:0003068,MP:0001126,MP:0001297,MP:0000274,MP:0009709,MP:0000266"
+597,OMIM:310200,"Muscular Dystrophy, Duchenne Type",DMD,Dmd<em1(IMPC)Hmgu> hem early,37.6,"HP:0006380,HP:0001371,HP:0003089,HP:0001771,HP:0003236","MP:0002941,MP:0005343,MP:0010025,MP:0000063"
+598,OMIM:310200,"Muscular Dystrophy, Duchenne Type",DMD,Dmd<em1(IMPC)Hmgu> hom early,38.265,"HP:0006380,HP:0001371,HP:0003089,HP:0001771,HP:0003236","MP:0002965,MP:0002941,MP:0005568,MP:0002968,MP:0010025,MP:0005343"
+599,OMIM:310300,"Emery-Dreifuss Muscular Dystrophy 1, X-Linked",EMD,Emd<em1(IMPC)Kmpc> hem early,20.335,HP:0003236,MP:0001566
+600,OMIM:310300,"Emery-Dreifuss Muscular Dystrophy 1, X-Linked",EMD,Emd<em1(IMPC)Kmpc> hom early,20.335,HP:0003236,MP:0001566
+601,OMIM:311250,"Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To",OTC,Otc<em1(IMPC)Tcp> het early,26.2,"HP:0001951,HP:0033139,HP:0003572,HP:0001987,HP:0003217","MP:0002941,MP:0001552"
+602,OMIM:311510,Waisman Syndrome,RAB39B,Rab39b<em1(IMPC)Tcp> hom late,42.28,"HP:0002322,HP:0002067,HP:0002063,HP:0002548,HP:0001300,HP:0002396",MP:0000745
+603,OMIM:311900,Tarp Syndrome,RBM10,Rbm10<em1(IMPC)Mbp> het early,23.275,"HP:0000648,HP:0001399,HP:0000085,HP:0000126","MP:0002989,MP:0002135,MP:0000601,MP:0000598,MP:0002699"
+604,OMIM:600002,Eiken Syndrome,PTH1R,Pth1r<tm1a(EUCOMM)Hmgu> het early,26.155,"HP:0002663,HP:0008103,HP:0004325,HP:0001216","MP:0010124,MP:0003961"
+605,OMIM:600092,Nivelon-Nivelon-Mabille Syndrome,HHAT,Hhat<em1(IMPC)Ccpcz> hom embryo,34.255,"HP:0007676,HP:0010049,HP:0009803,HP:0000252,HP:0002983,HP:0001156","MP:0000564,MP:0001293,MP:0011496"
+606,OMIM:600204,"Epiphyseal Dysplasia, Multiple, 2",COL9A2,Col9a2<tm1b(EUCOMM)Wtsi> hom early,67.97,"HP:0004279,HP:0003071,HP:0005715,HP:0100694,HP:0010886,HP:0010585,HP:0010582,HP:0002515,HP:0002656,HP:0001385,HP:0002136,HP:0005086,HP:0002970","MP:0002764,MP:0001402,MP:0000559,MP:0004509,MP:0005108,MP:0000552,MP:0005296,MP:0000558,MP:0002932"
+607,OMIM:600224,Spinocerebellar Ataxia 5,SPTBN2,Sptbn2<tm1b(EUCOMM)Hmgu> hom early,14.985,HP:0011448,MP:0002764
+608,OMIM:600274,Frontotemporal Dementia 1,MAPT,Mapt<tm1b(EUCOMM)Hmgu> hom early,48.745,"HP:0000748,HP:0002145,HP:0000745,HP:0002591,HP:0000737,HP:0000727,HP:0000734,HP:0000726,HP:0000741","MP:0011941,MP:0001417"
+609,OMIM:600373,Codas Syndrome,LONP1,Lonp1<tm1b(EUCOMM)Hmgu> het early,34.895,"HP:0000519,HP:0003112,HP:0000518","MP:0001556,MP:0001303,MP:0004151"
+610,OMIM:600462,"Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1",PUS1,Pus1<em1(IMPC)J> hom early,23.525,"HP:0009743,HP:0000580,HP:0003281","MP:0005344,MP:0002075,MP:0001566"
+611,OMIM:600649,"Carnitine Palmitoyltransferase Ii Deficiency, Infantile",CPT2,Cpt2<tm1b(KOMP)Wtsi> het early,21.26,"HP:0003236,HP:0001987",MP:0001566
+612,OMIM:600740,"Hypocalciuric Hypercalcemia, Familial, Type Iii",AP2S1,Ap2s1<em1(IMPC)Tcp> het early,28.49,HP:0004398,"MP:0009476,MP:0000494"
+613,OMIM:600775,Craniosynostosis 4,ERF,Erf<tm1.1(KOMP)Mbp> het early,27.495,"HP:0000278,HP:0000272",MP:0002100
+614,OMIM:600794,"Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5",GARS1,Gars1<em1(IMPC)Tcp> het early,25.655,HP:0001765,MP:0000157
+615,OMIM:600795,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7,CHMP2B,Chmp2b<em1(IMPC)Mbp> het early,38.595,"HP:0000718,HP:0000719,HP:0000733,HP:0000711,HP:0000734,HP:0000741",MP:0020420
+616,OMIM:600795,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7,CHMP2B,Chmp2b<em1(IMPC)Mbp> het late,13.605,HP:0000020,"MP:0002989,MP:0002135"
+617,OMIM:600802,"Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative",JAK3,Jak3<em1(IMPC)Mbp> het early,38.73,HP:0033581,"MP:0002339,MP:0000702"
+618,OMIM:600803,Gallbladder Disease 1,ABCB4,Abcb4<em1(IMPC)H> hom early,17.485,"HP:0011980,HP:0001733,HP:0001082,HP:0033196,HP:0000952,HP:0030151,HP:0001396,HP:0001395,HP:0001408,HP:0001081",MP:0004952
+619,OMIM:600886,Hyperferritinemia With Or Without Cataract,FTL,Ftl1<em1(IMPC)Rbrc> hom late,51.53,"HP:0040135,HP:0040130,HP:0003281,HP:0012464",MP:0004152
+620,OMIM:600920,Van Den Ende-Gupta Syndrome,SCARF2,Scarf2<tm1.1(KOMP)Vlcg> hom early,36.485,"HP:0005033,HP:0010493,HP:0001762,HP:0005709,HP:0003100,HP:0001822,HP:0003083,HP:0001215,HP:0001847,HP:0006236,HP:0001166,HP:0002857,HP:0003031,HP:0001182,HP:0012385,HP:0000894,HP:0001836,HP:0000882,HP:0006633,HP:0002980",MP:0004357
+621,OMIM:600969,"Epiphyseal Dysplasia, Multiple, 3",COL9A3,Col9a3<em1(IMPC)Tcp> hom early,21.425,"HP:0008180,HP:0003236",MP:0001552
+622,OMIM:600972,"Achondrogenesis, Type Ib",SLC26A2,Slc26a2<em1(IMPC)Bay> hom early,25.89,HP:0003826,MP:0011100
+623,OMIM:600972,"Achondrogenesis, Type Ib",SLC26A2,Slc26a2<em1(IMPC)Bay> hom embryo,17.085,HP:0002983,MP:0002109
+624,OMIM:601001,"Epidermolysis Bullosa Simplex 1D, Generalized, Intermediate Or Severe, Autosomal Recessive",KRT14,Krt14<tm1.1(KOMP)Vlcg> hom embryo,38.47,HP:0200097,MP:0000111
+625,OMIM:601088,Ayme-Gripp Syndrome,MAF,Maf<em1(IMPC)Mbp> het late,32.79,"HP:0000519,HP:0001701","MP:0001304,MP:0000274,MP:0000266"
+626,OMIM:601088,Ayme-Gripp Syndrome,MAF,Maf<em1(IMPC)Mbp> hom embryo,15.915,HP:0004322,MP:0003984
+627,OMIM:601104,"Supranuclear Palsy, Progressive, 1",MAPT,Mapt<tm1b(EUCOMM)Hmgu> hom early,30.205,"HP:0002354,HP:0002439,HP:0002015,HP:0000737,HP:0000741","MP:0011941,MP:0001417"
+628,OMIM:601152,"Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy",MFN2,Mfn2<tm1b(EUCOMM)Wtsi> het early,34.955,HP:0003376,MP:0001406
+629,OMIM:601198,"Hypocalcemia, Autosomal Dominant 1",CASR,Casr<tm1b(KOMP)Mbp> het early,65.93,"HP:0002917,HP:0002901,HP:0002150,HP:0000848,HP:0002905,HP:0002900","MP:0000194,MP:0001566"
+630,OMIM:601216,Dental Anomalies And Short Stature,LTBP3,Ltbp3<em1(IMPC)Ccpcz> hom early,65.21,"HP:0000677,HP:0000691,HP:0000705,HP:0000303,HP:0002945,HP:0000926,HP:0000327,HP:0002650,HP:0008441,HP:0008450,HP:0000687","MP:0013129,MP:0000458,MP:0002100,MP:0000160,MP:0004174,MP:0005270,MP:0000455"
+631,OMIM:601331,"Renal Dysplasia, Cystic, Susceptibility To",BICC1,Bicc1<em1(IMPC)Mbp> het early,33.825,"HP:0000083,HP:0000076,HP:0000800","MP:0002989,MP:0002135"
+632,OMIM:601338,"Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss",ATP1A3,Atp1a3<tm1b(EUCOMM)Hmgu> het early,32.995,"HP:0002015,HP:0002066,HP:0001310,HP:0002078,HP:0002131,HP:0001251","MP:0001392,MP:0001364,MP:0001399"
+633,OMIM:601358,Nicolaides-Baraitser Syndrome,SMARCA2,Smarca2<em1(IMPC)J> hom early,32.625,"HP:0000718,HP:0007018",MP:0001399
+634,OMIM:601455,"Charcot-Marie-Tooth Disease, Demyelinating, Type 4D",NDRG1,Ndrg1<tm2b(KOMP)Wtsi> hom early,40.225,"HP:0002317,HP:0002359,HP:0034337,HP:0001288","MP:0000745,MP:0001406,MP:0000063"
+635,OMIM:601472,"Charcot-Marie-Tooth Disease, Axonal, Type 2D",GARS1,Gars1<em1(IMPC)Tcp> het early,25.405,HP:0001765,MP:0000157
+636,OMIM:601493,"Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction",LDB3,Ldb3<tm2b(EUCOMM)Hmgu> het early,62.825,"HP:0001712,HP:0001635,HP:0033755,HP:0001644,HP:0004308,HP:0001645,HP:0011713","MP:0003068,MP:0010392"
+637,OMIM:601539,Peroxisome Biogenesis Disorder 1B,PEX1,Pex1<tm1e.1(EUCOMM)Hmgu> het early,31.77,"HP:0001395,HP:0002240,HP:0001394",MP:0000598
+638,OMIM:601626,"Leukemia, Acute Myeloid",CHIC2,Chic2<tm1b(EUCOMM)Wtsi> het early,15.15,HP:0004808,MP:0000691
+639,OMIM:601626,"Leukemia, Acute Myeloid",ETV6,Etv6<em1(IMPC)Rbrc> het early,23.52,HP:0004808,"MP:0002875,MP:0003179,MP:0012362"
+640,OMIM:601626,"Leukemia, Acute Myeloid",ETV6,Etv6<em1(IMPC)Rbrc> het late,14.225,HP:0004808,MP:0004952
+641,OMIM:601626,"Leukemia, Acute Myeloid",MLLT10,Mllt10<em1(IMPC)Mbp> het early,26.805,HP:0004808,"MP:0000219,MP:0005016"
+642,OMIM:601626,"Leukemia, Acute Myeloid",MLLT10,Mllt10<em1(IMPC)Mbp> het late,16.645,HP:0004808,"MP:0000691,MP:0000689"
+643,OMIM:601626,"Leukemia, Acute Myeloid",FLT3,Flt3<em1(IMPC)Ccpcz> hom early,23.85,HP:0004808,"MP:0000689,MP:0013771,MP:0008045"
+644,OMIM:601665,Obesity,PPARG,Pparg<tm1b(KOMP)Wtsi> het early,24.095,HP:0001513,MP:0003961
+645,OMIM:601665,Obesity,ENPP1,Enpp1<em1(IMPC)Ccpcz> hom early,28.665,"HP:0001513,HP:0031819",MP:0001262
+646,OMIM:601678,"Bartter Syndrome, Type 1, Antenatal",SLC12A1,Slc12a1<urehr3> hom early,61.83,"HP:0002917,HP:0001518,HP:0002150,HP:0001508,HP:0000848,HP:0002914,HP:0003072,HP:0003566,HP:0002900,HP:0003113","MP:0003020,MP:0000194,MP:0001262,MP:0005553,MP:0008806,MP:0005565"
+647,OMIM:601680,"Arthrogryposis, Distal, Type 2B1",TNNI2,Tnni2<tm1.1(KOMP)Vlcg> het early,16.84,"HP:0005684,HP:0100490,HP:0002804",MP:0010025
+648,OMIM:601705,"T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy",FOXN1,Foxn1<tm1.1(KOMP)Vlcg> hom early,21.6,"HP:0005403,HP:0008165","MP:0000703,MP:0000705"
+649,OMIM:601707,Curry-Jones Syndrome,SMO,Smo<tm1b(KOMP)Wtsi> hom embryo,13.565,"HP:0025480,HP:0002436","MP:0001700,MP:0001672"
+650,OMIM:601709,Quebec Platelet Disorder,PLAU,Plau<tm1b(EUCOMM)Wtsi> hom early,21.25,HP:0001873,"MP:0000220,MP:0000219"
+651,OMIM:601780,"Ceroid Lipofuscinosis, Neuronal, 6A",CLN6,Cln6<tm1b(EUCOMM)Hmgu> hom early,49.72,HP:0000546,MP:0001325
+652,OMIM:601815,Phosphoglycerate Dehydrogenase Deficiency,PHGDH,Phgdh<tm1b(KOMP)Wtsi> het early,33.545,HP:0000519,"MP:0001312,MP:0001314"
+653,OMIM:601815,Phosphoglycerate Dehydrogenase Deficiency,PHGDH,Phgdh<tm1b(KOMP)Wtsi> hom embryo,21.415,"HP:0011451,HP:0001510","MP:0003984,MP:0011496"
+654,OMIM:601820,"Hyperinsulinemic Hypoglycemia, Familial, 2",KCNJ11,Kcnj11<tm1b(EUCOMM)Wtsi> hom early,55.65,"HP:0000825,HP:0001943","MP:0013278,MP:0005293"
+655,OMIM:601846,"Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant",PLIN4,Plin4<tm1.1(KOMP)Wtsi> hom early,23.025,HP:0002015,MP:0020870
+656,OMIM:601847,"Cholestasis, Progressive Familial Intrahepatic, 2",ABCB11,Abcb11<tm1a(EUCOMM)Hmgu> hom early,20.525,HP:0002908,"MP:0005627,MP:0002968"
+657,OMIM:601847,"Cholestasis, Progressive Familial Intrahepatic, 2",ABCB11,Abcb11<tm1b(EUCOMM)Hmgu> het early,50.75,HP:0002908,"MP:0011896,MP:0005344,MP:0002968,MP:0008806,MP:0005343"
+658,OMIM:601869,"Deafness, Autosomal Recessive 15",GIPC3,Gipc3<tm1b(KOMP)Wtsi> hom early,28.92,"HP:0000407,HP:0000399",MP:0004738
+659,OMIM:601887,"Malignant Hyperthermia, Susceptibility To, 5",CACNA1S,Cacna1s<tm1.1(KOMP)Vlcg> hom embryo,28.265,"HP:0001649,HP:0012416","MP:0001575,MP:0001914"
+660,OMIM:601942,Type 1 Diabetes Mellitus 10,IL2RA,Il2ra<tm1b(EUCOMM)Wtsi> hom early,51.47,HP:0000819,"MP:0005292,MP:0005560"
+661,OMIM:601977,Thrombocythemia 2,MPL,Mpl<em1(IMPC)Ccpcz> het early,20.635,HP:0001894,"MP:0000691,MP:0000689"
+662,OMIM:601977,Thrombocythemia 2,MPL,Mpl<em1(IMPC)Ccpcz> hom early,21.26,HP:0001894,"MP:0000703,MP:0000709,MP:0000689"
+663,OMIM:601979,"Autoinflammatory Syndrome With Cytopenia, Hyperzincemia, And Hypercalprotectinemia",PSTPIP1,Pstpip1<em1(IMPC)Ccpcz> hom early,47.24,"HP:0011424,HP:0002240","MP:0003917,MP:0000598,MP:0000689,MP:0004952,MP:0005568,MP:0000599,MP:0000691"
+664,OMIM:602014,"Hypomagnesemia 1, Intestinal",TRPM6,Trpm6<tm1b(KOMP)Wtsi> het early,42.7,"HP:0002917,HP:0002901",MP:0000198
+665,OMIM:602066,"Convulsions, Familial Infantile, With Paroxysmal Choreoathetosis",PRRT2,Prrt2<tm1b(KOMP)Wtsi> hom early,35.335,"HP:0007098,HP:0002268",MP:0001489
+666,OMIM:602079,Trimethylaminuria,FMO3,Fmo3<em1(IMPC)Mbp> hom early,34.7,HP:0000716,MP:0001399
+667,OMIM:602079,Trimethylaminuria,FMO3,Fmo3<em1(IMPC)Mbp> hom late,59.44,"HP:0001875,HP:0001903,HP:0003614,HP:0001744","MP:0002135,MP:0000702,MP:0000703,MP:0004832,MP:0000689,MP:0000709,MP:0000691"
+668,OMIM:602088,Nephronophthisis 2,INVS,Invs<em1(IMPC)Bay> hom embryo,33.255,"HP:0000822,HP:0010444,HP:0001562","MP:0001914,MP:0001785"
+669,OMIM:602099,"Amyotrophic Lateral Sclerosis 5, Juvenile",SPG11,Spg11<em1(IMPC)J> hom early,30.955,HP:0100543,MP:0001417
+670,OMIM:602111,"Spondyloepimetaphyseal Dysplasia, Missouri Type",MMP13,Mmp13<em1(IMPC)Ccpcz> hom early,48.385,"HP:0003015,HP:0003071,HP:0002982,HP:0008905,HP:0002812,HP:0002986,HP:0010585,HP:0003021,HP:0002980,HP:0003031,HP:0002869,HP:0002970",MP:0002764
+671,OMIM:602342,Pierpont Syndrome,TBL1XR1,Tbl1xr1<tm1b(EUCOMM)Hmgu> het early,22.895,"HP:0009890,HP:0000358,HP:0000365,HP:0002265","MP:0004738,MP:0001284"
+672,OMIM:602342,Pierpont Syndrome,TBL1XR1,Tbl1xr1<tm1b(EUCOMM)Hmgu> het late,25.365,"HP:0000054,HP:0000028",MP:0004832
+673,OMIM:602347,"Cholestasis, Progressive Familial Intrahepatic, 3",ABCB4,Abcb4<em1(IMPC)H> hom early,50.545,"HP:0001406,HP:0012202,HP:0001394,HP:0033196,HP:0000952,HP:0001541,HP:0006580,HP:0002240,HP:0001408,HP:0001744","MP:0002941,MP:0010067,MP:0005505,MP:0005627,MP:0000220,MP:0004952,MP:0005562,MP:0002874,MP:0005013,MP:0000218,MP:0005344,MP:0005642,MP:0005553,MP:0002968,MP:0000219,MP:0005343,MP:0000186,MP:0002606"
+674,OMIM:602390,"Hemochromatosis, Type 2A",HJV,Hjv<tm1b(KOMP)Wtsi> hom early,46.84,"HP:0003452,HP:0001254,HP:0003281,HP:0001744","MP:0005564,MP:0008810,MP:0020870,MP:0005561"
+675,OMIM:602398,Desmosterolosis,DHCR24,Dhcr24<tm1a(EUCOMM)Wtsi> het early,15.67,"HP:0003107,HP:0034937",MP:0010092
+676,OMIM:602485,"Hyperinsulinemic Hypoglycemia, Familial, 3",GCK,Gck<em1(IMPC)H> het early,64.885,"HP:0000825,HP:0000819,HP:0002173","MP:0005293,MP:0013279,MP:0005559"
+677,OMIM:602579,"Congenital Disorder Of Glycosylation, Type Ib",MPI,Mpi<tm1a(EUCOMM)Wtsi> het early,17.59,HP:0003073,MP:0000194
+678,OMIM:602668,Myotonic Dystrophy 2,CNBP,Cnbp<tm1b(KOMP)Wtsi> het early,29.445,HP:0003236,"MP:0005627,MP:0005419,MP:0003019"
+679,OMIM:602771,Congenital Myopathy 3 With Rigid Spine,SELENON,Selenon<tm1a(KOMP)Wtsi> hom early,26.47,"HP:0001371,HP:0003306,HP:0002650",MP:0004609
+680,OMIM:602782,Histiocytosis-Lymphadenopathy Plus Syndrome,SLC29A3,Slc29a3<em1(IMPC)Wtsi> hom early,28.76,"HP:0001433,HP:0012785,HP:0012385,HP:0002987,HP:0100490,HP:0100651,HP:0100727,HP:0005830,HP:0009183,HP:0001744","MP:0002875,MP:0002599,MP:0010067,MP:0003179,MP:0002874,MP:0000218,MP:0005562,MP:0005642,MP:0010025,MP:0005560,MP:0000208"
+681,OMIM:602782,Histiocytosis-Lymphadenopathy Plus Syndrome,SLC29A3,Slc29a3<em1(IMPC)Mbp> hom early,48.52,"HP:0002594,HP:0000054,HP:0001433,HP:0007380,HP:0001642,HP:0025289,HP:0000027,HP:0005200,HP:0001640,HP:0000815,HP:0100727,HP:0002716,HP:0000824,HP:0002240,HP:0002092,HP:0001744","MP:0002989,MP:0002135,MP:0002339,MP:0000702,MP:0002637,MP:0001157,MP:0000703,MP:0002059,MP:0001120,MP:0000598,MP:0004952,MP:0000689,MP:0000599,MP:0000706,MP:0002981,MP:0005333,MP:0010506,MP:0000691"
+682,OMIM:602875,Acromesomelic Dysplasia 1,NPR2,Npr2<em1(IMPC)H> het early,25.235,HP:0003196,MP:0000443
+683,OMIM:602875,Acromesomelic Dysplasia 1,NPR2,Npr2<em1(IMPC)H> hom early,30.495,"HP:0003015,HP:0001831,HP:0003196,HP:0010049,HP:0003086,HP:0002986,HP:0006009,HP:0009803,HP:0010743,HP:0001847,HP:0010230,HP:0001500,HP:0001230,HP:0001783,HP:0002984","MP:0000443,MP:0000550,MP:0000556"
+684,OMIM:603075,"Macular Degeneration, Age-Related, 1",HMCN1,Hmcn1<em1(IMPC)J> hom early,38.57,"HP:0012643,HP:0030499,HP:0000608,HP:0031609,HP:0025574,HP:0011506",MP:0008259
+685,OMIM:603233,"Pseudohypoparathyroidism, Type Ib",STX16,Stx16<tm1b(KOMP)Wtsi> hom early,44.61,"HP:0001513,HP:0002901,HP:0002905","MP:0002941,MP:0005627,MP:0005419,MP:0003960,MP:0005344,MP:0002968"
+686,OMIM:603457,Bosma Arhinia Microphthalmia Syndrome,SMCHD1,Smchd1<em1(IMPC)Tcp> hom early,13.525,"HP:0000175,HP:0000218",MP:0000470
+687,OMIM:603467,"Fanconi Anemia, Complementation Group F",FANCF,Fancf<em1(IMPC)J> hom early,31.565,"HP:0001903,HP:0001873,HP:0001882","MP:0002590,MP:0005561"
+688,OMIM:603552,"Hemophagocytic Lymphohistiocytosis, Familial, 4",STX11,Stx11<em1(IMPC)Mbp> hom early,36.53,"HP:0001903,HP:0003281,HP:0002155,HP:0012156,HP:0001875,HP:0002240,HP:0001873,HP:0001744","MP:0005013,MP:0002833,MP:0005565"
+689,OMIM:603553,"Hemophagocytic Lymphohistiocytosis, Familial, 2",PRF1,Prf1<tm1.1(KOMP)Vlcg> hom early,32.94,"HP:0001903,HP:0001433,HP:0001876,HP:0001744,HP:0012156,HP:0001873,HP:0001882",MP:0005642
+690,OMIM:603592,"Xanthinuria, Type Ii",MOCOS,Mocos<em2(IMPC)Ics> het early,30.32,"HP:0010933,HP:0034333,HP:0003537","MP:0001556,MP:0005178"
+691,OMIM:603671,Acromelic Frontonasal Dysostosis,ZSWIM6,Zswim6<em1(IMPC)J> het early,38.285,"HP:0007968,HP:0000609",MP:0001289
+692,OMIM:603776,"Hypercholesterolemia, Familial, 3",PCSK9,Pcsk9<tm2b(EUCOMM)Hmgu> hom early,52.915,"HP:0001114,HP:0031886,HP:0003124","MP:0005179,MP:0011886,MP:0002968,MP:0008806,MP:0000186"
+693,OMIM:604173,Poikiloderma With Neutropenia,USB1,Usb1<em1(IMPC)Bay> hom embryo,37.485,HP:0000969,MP:0001785
+694,OMIM:604229,Anterior Segment Dysgenesis 5,PAX6,Pax6<em1(IMPC)Mbp> het early,58.44,"HP:0000519,HP:0000647,HP:0007676,HP:0000558,HP:0000659,HP:0000568,HP:0011483,HP:0007750,HP:0000482,HP:0000627","MP:0001297,MP:0001314,MP:0001293,MP:0005542"
+695,OMIM:604229,Anterior Segment Dysgenesis 5,PAX6,Pax6<em1(IMPC)Mbp> het embryo,48.765,"HP:0007676,HP:0000568,HP:0007750,HP:0000558",MP:0001297
+696,OMIM:604229,Anterior Segment Dysgenesis 5,PAX6,Pax6<em1(IMPC)Mbp> hom embryo,40.055,"HP:0007676,HP:0000568,HP:0007750,HP:0000558",MP:0001293
+697,OMIM:604250,"Hemochromatosis, Type 3",TFR2,Tfr2<em1(IMPC)Rbrc> hom early,55.525,"HP:0001903,HP:0012463,HP:0003281,HP:0001888,HP:0003452,HP:0001875","MP:0002875,MP:0002590,MP:0008810,MP:0005561,MP:0005564,MP:0005641"
+698,OMIM:604250,"Hemochromatosis, Type 3",TFR2,Tfr2<em1(IMPC)Rbrc> hom late,48.52,"HP:0001903,HP:0001394,HP:0001638,HP:0001888,HP:0002910,HP:0001875","MP:0002875,MP:0002590,MP:0010068,MP:0005561,MP:0000598,MP:0005641,MP:0000274,MP:0000266"
+699,OMIM:604273,"Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1",ATPAF2,Atpaf2<tm1a(KOMP)Wtsi> het early,34.2,"HP:0000278,HP:0000347",MP:0000455
+700,OMIM:604290,Aceruloplasminemia,CP,Cp<tm1b(KOMP)Wtsi> hom early,48.45,"HP:0040303,HP:0001903,HP:0025498,HP:0003281","MP:0002591,MP:0002874,MP:0005562,MP:0005642,MP:0004151"
+701,OMIM:604317,"Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations",WDR62,Wdr62<em1(IMPC)Tcp> hom early,34.83,HP:0000028,"MP:0001157,MP:0001147"
+702,OMIM:604320,"Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1",IGHMBP2,Ighmbp2<em1(IMPC)Tcp> het late,16.66,HP:0000020,MP:0003068
+703,OMIM:604326,Spinocerebellar Ataxia 12,PPP2R2B,Ppp2r2b<tm1b(KOMP)Wtsi> hom early,31.985,HP:0000716,MP:0001399
+704,OMIM:604360,"Spastic Paraplegia 11, Autosomal Recessive",SPG11,Spg11<em1(IMPC)J> hom early,29.485,HP:0001268,MP:0001417
+705,OMIM:604367,"Lipodystrophy, Familial Partial, Type 3",PPARG,Pparg<tm1b(KOMP)Wtsi> het early,52.69,"HP:0003074,HP:0009017,HP:0000831,HP:0003758,HP:0000842,HP:0009125,HP:0000855,HP:0005978,HP:0003635","MP:0013279,MP:0010024"
+706,OMIM:604416,"Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne",PSTPIP1,Pstpip1<em1(IMPC)Ccpcz> hom early,50.68,"HP:0001433,HP:0011227,HP:0001876,HP:0001894,HP:0025616,HP:0001935","MP:0013763,MP:0003917,MP:0000703,MP:0008074,MP:0000598,MP:0004952,MP:0000689,MP:0005568,MP:0000709,MP:0000599,MP:0000691"
+707,OMIM:604498,"Amegakaryocytic Thrombocytopenia, Congenital, 1",MPL,Mpl<em1(IMPC)Ccpcz> het early,24.39,"HP:0001876,HP:0004859,HP:0001873","MP:0000691,MP:0000689"
+708,OMIM:604498,"Amegakaryocytic Thrombocytopenia, Congenital, 1",MPL,Mpl<em1(IMPC)Ccpcz> hom early,25.68,"HP:0001876,HP:0004859,HP:0001873","MP:0000703,MP:0000709,MP:0000689"
+709,OMIM:604841,"Stickler Syndrome, Type Ii",COL11A1,Col11a1<em1(IMPC)Bay> hom embryo,41.93,"HP:0000193,HP:0003016,HP:0100807,HP:0001166,HP:0002705,HP:0000201,HP:0000175","MP:0002109,MP:0009908,MP:0000111"
+710,OMIM:604864,Osteoarthritis With Mild Chondrodysplasia,COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,39.115,"HP:0000926,HP:0003301,HP:0004568,HP:0030041",MP:0000160
+711,OMIM:604928,Wolfram Syndrome 2,CISD2,Cisd2<tm1a(EUCOMM)Wtsi> hom early,29.815,HP:0000819,MP:0002078
+712,OMIM:605019,"Hypobetalipoproteinemia, Familial, 2",ANGPTL3,Angptl3<tm2b(KOMP)Wtsi> hom early,48.025,"HP:0003563,HP:0012153","MP:0005179,MP:0000186"
+713,OMIM:605039,Bohring-Opitz Syndrome,ASXL1,Asxl1<tm1a(EUCOMM)Wtsi> het early,28.055,"HP:0000587,HP:0001373,HP:0001371,HP:0000960,HP:0005487,HP:0003083,HP:0012385,HP:0003049","MP:0004649,MP:0004650,MP:0006243,MP:0004609"
+714,OMIM:605130,Wiedemann-Steiner Syndrome,KMT2A,Kmt2a<em1(IMPC)Marc> het early,19.05,"HP:0009697,HP:0001382,HP:0001508","MP:0003960,MP:0000063"
+715,OMIM:605192,"Deafness, Autosomal Dominant 23",SIX1,Six1<em1(IMPC)Mbp> het late,27.055,HP:0000076,"MP:0002989,MP:0002135,MP:0003068"
+716,OMIM:605259,Spinocerebellar Ataxia 13,KCNC3,Kcnc3<em1(IMPC)J> hom late,25.83,"HP:0002406,HP:0002070,HP:0002073,HP:0002066",MP:0002574
+717,OMIM:605275,Noonan Syndrome 2,LZTR1,Lztr1<tm1a(EUCOMM)Wtsi> het early,24.41,"HP:0006721,HP:0000431,HP:0001909","MP:0000443,MP:0010067"
+718,OMIM:605282,Temtamy Preaxial Brachydactyly Syndrome,CHSY1,Chsy1<em1(IMPC)Mbp> hom early,27.145,"HP:0000648,HP:0008368,HP:0009702,HP:0002974,HP:0000175,HP:0008619","MP:0000063,MP:0001325,MP:0002699,MP:0004738,MP:0000494,MP:0009476"
+719,OMIM:605407,"Segawa Syndrome, Autosomal Recessive",TH,Th<em1(IMPC)H> het early,39.33,HP:0002066,MP:0001406
+720,OMIM:605472,"Usher Syndrome, Type Iic",ADGRV1,Adgrv1<tm1.1(KOMP)Vlcg> hom early,28.925,HP:0008527,MP:0004738
+721,OMIM:605479,"Cholestasis, Benign Recurrent Intrahepatic, 2",ABCB11,Abcb11<tm1a(EUCOMM)Hmgu> hom early,22.43,HP:0002908,"MP:0005627,MP:0002968"
+722,OMIM:605479,"Cholestasis, Benign Recurrent Intrahepatic, 2",ABCB11,Abcb11<tm1b(EUCOMM)Hmgu> het early,52.98,HP:0002908,"MP:0011896,MP:0005344,MP:0002968,MP:0008806,MP:0005343"
+723,OMIM:605543,"Parkinson Disease 4, Autosomal Dominant",SNCA,Snca<em1(IMPC)H> hom late,15.495,HP:0001278,MP:0003896
+724,OMIM:605583,"Deafness, Autosomal Dominant 25",SLC17A8,Slc17a8<em1(IMPC)Mbp> hom early,26.655,HP:0000407,MP:0004738
+725,OMIM:605588,"Charcot-Marie-Tooth Disease, Axonal, Type 2B1",LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,32.765,"HP:0001761,HP:0003383,HP:0003378,HP:0003431,HP:0003384,HP:0003380","MP:0008259,MP:0002764"
+726,OMIM:605670,Late-Onset Retinal Degeneration,C1QTNF5,C1qtnf5<tm1.1(KOMP)Vlcg> het early,64.325,"HP:0000546,HP:0031531,HP:0000488,HP:0011506,HP:0200065",MP:0001325
+727,OMIM:605670,Late-Onset Retinal Degeneration,C1QTNF5,C1qtnf5<tm1.1(KOMP)Vlcg> hom early,67.075,"HP:0000546,HP:0031531,HP:0000488,HP:0011506,HP:0200065",MP:0001325
+728,OMIM:605676,"Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma",DSP,Dsp<em1(IMPC)Mbp> hom embryo,24.95,"HP:0001644,HP:0031319",MP:0000266
+729,OMIM:606054,Propionic Acidemia,PCCB,Pccb<tm1.1(KOMP)Vlcg> het early,17.315,"HP:0410066,HP:0003108","MP:0002135,MP:0008528"
+730,OMIM:606054,Propionic Acidemia,PCCB,Pccb<tm1.1(KOMP)Vlcg> het embryo,25.9,"HP:0001638,HP:0011695",MP:0001914
+731,OMIM:606054,Propionic Acidemia,PCCB,Pccb<tm1.1(KOMP)Vlcg> hom embryo,34.09,"HP:0001638,HP:0001944,HP:0011695","MP:0001914,MP:0001785"
+732,OMIM:606056,"Congenital Disorder Of Glycosylation, Type Iib",MOGS,Mogs<tm1(KOMP)Vlcg> het early,31.265,"HP:0001188,HP:0010557,HP:0002757,HP:0002240,HP:0000218","MP:0000467,MP:0000063,MP:0001944,MP:0002544"
+733,OMIM:606068,Retinitis Pigmentosa 28,FAM161A,Fam161a<tm1b(KOMP)Wtsi> hom early,52.84,"HP:0000510,HP:0000543,HP:0007737","MP:0002792,MP:0008259,MP:0010097,MP:0001325"
+734,OMIM:606069,"Hemochromatosis, Type 4",SLC40A1,Slc40a1<tm1b(EUCOMM)Hmgu> het early,23.825,"HP:0003281,HP:0012463,HP:0002758","MP:0000063,MP:0001552"
+735,OMIM:606159,Neurodegeneration With Brain Iron Accumulation 3,FTL,Ftl1<em1(IMPC)Rbrc> hom early,37.385,"HP:0001266,HP:0001251,HP:0002067","MP:0001406,MP:0001402"
+736,OMIM:606159,Neurodegeneration With Brain Iron Accumulation 3,FTL,Ftl1<em1(IMPC)Rbrc> hom late,19.645,HP:0012343,MP:0004152
+737,OMIM:606176,"Diabetes Mellitus, Permanent Neonatal, 1",GCK,Gck<em1(IMPC)H> het early,68.545,"HP:0003074,HP:0040217,HP:0000819,HP:0030795,HP:0100651","MP:0005293,MP:0013279,MP:0002968,MP:0005559"
+738,OMIM:606220,"Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects",FBXL3,Fbxl3<em1(IMPC)Ccpcz> hom early,13.97,HP:0000218,MP:0003271
+739,OMIM:606346,"Deafness, Autosomal Dominant 22",MYO6,Myo6<em1(IMPC)Tcp> hom early,25.28,"HP:0000407,HP:0000408",MP:0004738
+740,OMIM:606367,Immunodeficiency 41 With Lymphoproliferation And Autoimmunity,IL2RA,Il2ra<tm1b(EUCOMM)Wtsi> hom early,49.75,"HP:0001433,HP:0001878,HP:0001890,HP:0033222,HP:0010976,HP:0020113,HP:0100651,HP:0030812,HP:0011473,HP:0002028,HP:0005403,HP:0002716","MP:0002875,MP:0000702,MP:0002591,MP:0002874,MP:0012362,MP:0005562,MP:0000689,MP:0003271,MP:0000495,MP:0005642,MP:0005016,MP:0005560,MP:0000219,MP:0000208,MP:0005292"
+741,OMIM:606392,"Maturity-Onset Diabetes Of The Young, Type 4",PDX1,Pdx1<tm1b(EUCOMM)Wtsi> het early,96.08,"HP:0004904,HP:0005978",MP:0005293
+742,OMIM:606408,"Ehlers-Danlos Syndrome, Classic-Like, 1",TNXB,Tnxb<tm1b(EUCOMM)Hmgu> hom early,22.655,"HP:0031655,HP:0001634",MP:0000274
+743,OMIM:606593,Lig4 Syndrome,LIG4,Lig4<em1(IMPC)Ccpcz> het early,26.225,"HP:0000054,HP:0001876,HP:0006721,HP:0001873,HP:0000028","MP:0003917,MP:0000703,MP:0001120,MP:0000689,MP:0000709,MP:0000691,MP:0004906"
+744,OMIM:606721,"Lipodystrophy, Familial Partial, Type 7",CAV1,Cav1<em2(IMPC)Ics> hom early,42.495,"HP:0000822,HP:0003124,HP:0002155,HP:0001278,HP:0002092","MP:0005178,MP:0001556,MP:0002626,MP:0005140"
+745,OMIM:607014,Hurler Syndrome,IDUA,Idua<em1(IMPC)Hmgu> hom early,43.005,"HP:0001371,HP:0001537,HP:0000546,HP:0100790,HP:0000403,HP:0000431,HP:0007957,HP:0007759,HP:0000365,HP:0001488,HP:0000023","MP:0005287,MP:0000443,MP:0001325,MP:0001312,MP:0004738,MP:0010025,MP:0002792,MP:0011965"
+746,OMIM:607015,Hurler-Scheie Syndrome,IDUA,Idua<em1(IMPC)Hmgu> hom early,38.485,"HP:0001537,HP:0100490,HP:0007957,HP:0009697,HP:0000023","MP:0001312,MP:0010025"
+747,OMIM:607016,Scheie Syndrome,IDUA,Idua<em1(IMPC)Hmgu> hom early,41.36,"HP:0007957,HP:0000546","MP:0001312,MP:0002792,MP:0011965,MP:0001325"
+748,OMIM:607039,"Deafness, Autosomal Recessive 22",OTOA,Otoa<tm1.1(KOMP)Vlcg> hom early,32.495,HP:0000407,MP:0004738
+749,OMIM:607101,"Deafness, Autosomal Recessive 30",MYO3A,Myo3a<tm1b(KOMP)Wtsi> hom early,38.62,"HP:0001730,HP:0000408",MP:0004738
+750,OMIM:607271,Caspase 8 Deficiency,CASP8,Casp8<em1(IMPC)Ccpcz> het early,22.79,HP:0001744,"MP:0000274,MP:0000601,MP:0000598"
+751,OMIM:607326,Smith-Mccort Dysplasia 1,DYM,Dym<em1(IMPC)Tcp> hom early,36.775,"HP:0010049,HP:0003025,HP:0010582,HP:0008835,HP:0009803,HP:0000882,HP:0008829,HP:0003274,HP:0002857,HP:0008786,HP:0003311,HP:0002970","MP:0010124,MP:0003795,MP:0002764,MP:0002932"
+752,OMIM:607346,Spinocerebellar Ataxia 19,KCND3,Kcnd3<em1(IMPC)J> hom early,43.635,"HP:0100543,HP:0002015,HP:0002070,HP:0002073,HP:0002066,HP:0002078","MP:0001402,MP:0001417,MP:0002574,MP:0020870,MP:0001399"
+753,OMIM:607346,Spinocerebellar Ataxia 19,KCND3,Kcnd3<em1(IMPC)J> hom late,40.52,"HP:0002174,HP:0002015,HP:0002070,HP:0002073,HP:0002066,HP:0002078","MP:0002574,MP:0001399,MP:0001486"
+754,OMIM:607426,"Coenzyme Q10 Deficiency, Primary, 1",COQ2,Coq2<tm1b(EUCOMM)Hmgu> het early,19.285,HP:0001639,MP:0002834
+755,OMIM:607450,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 8",DSP,Dsp<em1(IMPC)Mbp> hom embryo,22.025,HP:0011663,MP:0000266
+756,OMIM:607454,Spinocerebellar Ataxia 21,TMEM240,Tmem240<em1(IMPC)Ccpcz> hom early,55.75,"HP:0000718,HP:0100543,HP:0002071,HP:0002174,HP:0002080,HP:0002070,HP:0002066,HP:0002073,HP:0100710,HP:0001268,HP:0002304,HP:0000741,HP:0001300,HP:0001251,HP:0001332,HP:0002396","MP:0000745,MP:0001364,MP:0001415,MP:0001392,MP:0001399"
+757,OMIM:607596,"Pontocerebellar Hypoplasia, Type 1A",VRK1,Vrk1<em1(IMPC)Mbp> het early,21.93,HP:0002015,MP:0020870
+758,OMIM:607624,"Griscelli Syndrome, Type 2",RAB27A,Rab27a<em1(IMPC)Bay> hom early,60.085,"HP:0001008,HP:0002220,HP:0001010,HP:0002218",MP:0002075
+759,OMIM:607676,Immunodeficiency 67,IRAK4,Irak4<em1(IMPC)Ccpcz> hom early,20.47,"HP:0040089,HP:0410255,HP:0010975,HP:0011839","MP:0000703,MP:0000709"
+760,OMIM:607677,"Charcot-Marie-Tooth Disease, Axonal, Type 2I",MPZ,Mpz<em1(IMPC)Tcp> hom early,46.51,HP:0003376,"MP:0001406,MP:0001402"
+761,OMIM:607685,"Hypereosinophilic Syndrome, Idiopathic",PDGFRA,Pdgfra<em1(IMPC)Ccpcz> het early,39.505,"HP:0001880,HP:0002240,HP:0001744,HP:0005547","MP:0013435,MP:0013520,MP:0003917,MP:0008039,MP:0000702,MP:0002339,MP:0003068,MP:0000703,MP:0013523,MP:0000709"
+762,OMIM:607688,"Parkinson Disease 11, Autosomal Dominant, Susceptibility To",GIGYF2,Gigyf2<tm1b(EUCOMM)Wtsi> hom early,52.92,"HP:0002548,HP:0002322,HP:0002063,HP:0002067","MP:0000745,MP:0001402"
+763,OMIM:607736,"Charcot-Marie-Tooth Disease, Axonal, Type 2J",MPZ,Mpz<em1(IMPC)Tcp> hom early,39.92,HP:0003376,"MP:0001406,MP:0001402"
+764,OMIM:607785,Juvenile Myelomonocytic Leukemia,ARHGAP26,Arhgap26<tm1b(EUCOMM)Hmgu> hom early,38.235,HP:0012209,MP:0000218
+765,OMIM:607812,Craniolenticulosutural Dysplasia,SEC23A,Sec23a<tm1a(KOMP)Wtsi> het early,32.745,"HP:0000938,HP:0001382",MP:0000062
+766,OMIM:607821,"Deafness, Autosomal Recessive 37",MYO6,Myo6<em1(IMPC)Tcp> hom early,24.64,HP:0000407,MP:0004738
+767,OMIM:607822,Alzheimer Disease 3,PSEN1,Psen1<tm1.1(KOMP)Vlcg> hom embryo,23.83,HP:0001332,MP:0001491
+768,OMIM:607906,"Congenital Disorder Of Glycosylation, Type Ii",ALG2,Alg2<tm1.1(KOMP)Vlcg> het early,25.88,"HP:0000821,HP:0001332","MP:0002079,MP:0001523"
+769,OMIM:607932,"Microphthalmia, Syndromic 6",BMP4,Bmp4<tm1b(EUCOMM)Hmgu> het early,29.34,"HP:0000647,HP:0001144,HP:0000482,HP:0000556","MP:0001322,MP:0003731,MP:0001325,MP:0003733,MP:0008259,MP:0011960,MP:0005176,MP:0011965"
+770,OMIM:607932,"Microphthalmia, Syndromic 6",BMP4,Bmp4<tm1b(EUCOMM)Hmgu> het embryo,35.18,"HP:0000568,HP:0000528",MP:0001297
+771,OMIM:608013,"Gaucher Disease, Perinatal Lethal",GBA1,Gba1<em1(IMPC)H> hom early,21.465,HP:0003811,MP:0011100
+772,OMIM:608104,"Congenital Disorder Of Glycosylation, Type Ih",ALG8,Alg8<em1(IMPC)J> het early,17.395,"HP:0012385,HP:0001508","MP:0003961,MP:0010024"
+773,OMIM:608104,"Congenital Disorder Of Glycosylation, Type Ih",ALG8,Alg8<em1(IMPC)J> het late,23.23,"HP:0003073,HP:0003259","MP:0001556,MP:0005178"
+774,OMIM:608104,"Congenital Disorder Of Glycosylation, Type Ih",ALG8,Alg8<em1(IMPC)J> hom early,23.325,HP:0003811,MP:0011100
+775,OMIM:608104,"Congenital Disorder Of Glycosylation, Type Ih",ALG8,Alg8<em1(IMPC)J> hom embryo,34.45,"HP:0003811,HP:0001511","MP:0003984,MP:0001697,MP:0013293"
+776,OMIM:608389,Branchiootic Syndrome 3,SIX1,Six1<em1(IMPC)Mbp> het embryo,18.915,HP:0009796,"MP:0001711,MP:0003231"
+777,OMIM:608389,Branchiootic Syndrome 3,SIX1,Six1<em1(IMPC)Mbp> hom embryo,18.085,HP:0009796,"MP:0001711,MP:0003984"
+778,OMIM:608390,"Myotonia, Potassium-Aggravated",SCN4A,Scn4a<tm2b(KOMP)Wtsi> het early,38.115,HP:0003236,"MP:0002966,MP:0008806"
+779,OMIM:608404,Platelet Glycoprotein Iv Deficiency,CD36,Cd36<em1(IMPC)Mbp> hom late,27.55,"HP:0003010,HP:0001892,HP:0001902,HP:0001873","MP:0006203,MP:0000691,MP:0000689"
+780,OMIM:608516,Major Depressive Disorder,TPH2,Tph2<em1(IMPC)Mbp> hom early,51.65,HP:0000716,MP:0001417
+781,OMIM:608540,"Congenital Disorder Of Glycosylation, Type Ik",ALG1,Alg1<tm1b(KOMP)Wtsi> het early,18.335,HP:0001744,"MP:0005013,MP:0005011,MP:0000218,MP:0002606"
+782,OMIM:608594,"Lipodystrophy, Congenital Generalized, Type 1",AGPAT2,Agpat2<em1(IMPC)Ccpcz> het early,48.505,"HP:0000147,HP:0001394,HP:0000819,HP:0000787,HP:0008665,HP:0000842,HP:0000877,HP:0001397,HP:0002155,HP:0002910,HP:0000065,HP:0003292,HP:0000868,HP:0001735,HP:0002240,HP:0001744","MP:0001146,MP:0002965,MP:0002135,MP:0003068,MP:0001120,MP:0000598,MP:0000689,MP:0005568,MP:0001147,MP:0000599,MP:0000691,MP:0004906"
+783,OMIM:608611,Ribose 5-Phosphate Isomerase Deficiency,RPIA,Rpia<tm1a(KOMP)Wtsi> het early,29.07,"HP:0025550,HP:0410057","MP:0000186,MP:0000195"
+784,OMIM:608615,Oligodontia-Colorectal Cancer Syndrome,AXIN2,Axin2<tm1b(KOMP)Wtsi> hom embryo,30.18,"HP:0000677,HP:0033769,HP:0002223,HP:0005227,HP:0003003,HP:0010764","MP:0009263,MP:0009908"
+785,OMIM:608703,Spinocerebellar Ataxia 25,PNPT1,Pnpt1<tm1a(KOMP)Wtsi> het early,28.62,HP:0001251,MP:0001406
+786,OMIM:608709,"Lipodystrophy, Partial, Acquired, Susceptibility To",LMNB2,Lmnb2<tm1a(KOMP)Wtsi> het early,29.685,HP:0003119,MP:0005344
+787,OMIM:608716,"Microcephaly 5, Primary, Autosomal Recessive",ASPM,Aspm<tm1a(KOMP)Wtsi> hom early,16.99,HP:0004325,MP:0003961
+788,OMIM:608776,"Congenital Disorder Of Glycosylation, Type Il",ALG9,Alg9<em1(IMPC)J> het early,34.695,HP:0009125,MP:0010024
+789,OMIM:608779,"Congenital Disorder Of Glycosylation, Type Iie",COG7,Cog7<tm1b(EUCOMM)Hmgu> het early,22.785,HP:0001635,MP:0004122
+790,OMIM:608805,"Avascular Necrosis Of Femoral Head, Primary, 1",COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,13.76,HP:0005743,MP:0002109
+791,OMIM:608836,"Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal",CPT2,Cpt2<tm1b(KOMP)Wtsi> het early,19.44,"HP:0001987,HP:0011936,HP:0003573,HP:0003236,HP:0008315,HP:0003259,HP:0003455",MP:0001566
+792,OMIM:608874,Orofacial Cleft 5,MSX1,Msx1<tm1b(KOMP)Wtsi> hom embryo,66.295,"HP:0000175,HP:0000204",MP:0000111
+793,OMIM:609006,"Deafness, Autosomal Recessive 36, With Or Without Vestibular Involvement",ESPN,Espn<tm1a(EUCOMM)Wtsi> hom early,40.605,HP:0008568,MP:0006358
+794,OMIM:609054,"Fanconi Anemia, Complementation Group J",BRIP1,Brip1<em1(IMPC)J> hom late,23.22,"HP:0009778,HP:0007565","MP:0002075,MP:0012000"
+795,OMIM:609135,Aplastic Anemia,IFNG,Ifng<tm1.1(KOMP)Vlcg> het early,25.21,HP:0001915,MP:0002608
+796,OMIM:609135,Aplastic Anemia,PRF1,Prf1<tm1.1(KOMP)Vlcg> hom early,30.175,HP:0001915,MP:0005642
+797,OMIM:609162,Czech Dysplasia,COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,39.435,"HP:0003301,HP:0002945,HP:0002942,HP:0000926,HP:0002650",MP:0000160
+798,OMIM:609162,Czech Dysplasia,COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,13.85,"HP:0003370,HP:0008819,HP:0001831,HP:0002812,HP:0010049,HP:0010743,HP:0100864",MP:0002109
+799,OMIM:609260,"Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A",MFN2,Mfn2<tm1b(EUCOMM)Wtsi> het early,41.065,HP:0003376,MP:0001406
+800,OMIM:609313,Mednik Syndrome,AP1S1,Ap1s1<tm1.1(KOMP)Vlcg> hom early,20.995,HP:0003811,MP:0011100
+801,OMIM:609439,"Deafness, Autosomal Recessive 48",CIB2,Cib2<tm1b(EUCOMM)Wtsi> hom early,29.34,HP:0011476,"MP:0002102,MP:0004738"
+802,OMIM:609441,Acromesomelic Dysplasia 3,BMPR1B,Bmpr1b<em1(IMPC)Mbp> hom early,40.24,"HP:0011969,HP:0005028,HP:0001762,HP:0100864,HP:0000786,HP:0001156,HP:0003022,HP:0009702,HP:0009803,HP:0000013,HP:0009596,HP:0008232,HP:0008368,HP:0001831,HP:0002990,HP:0009381,HP:0001776,HP:0000815,HP:0009826,HP:0009466,HP:0010034","MP:0001146,MP:0001157,MP:0002059,MP:0000572,MP:0001147,MP:0001926"
+803,OMIM:609446,Paroxysmal Nonkinesigenic Dyskinesia 3 With Or Without Generalized Epilepsy,KCNMA1,Kcnma1<em1(IMPC)H> hom early,42.395,HP:0007166,MP:0000745
+804,OMIM:609452,"Myopathy, Myofibrillar, 4",LDB3,Ldb3<tm2b(EUCOMM)Hmgu> het early,17.915,HP:0001638,MP:0010392
+805,OMIM:609528,"Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome",SNAP29,Snap29<tm1a(EUCOMM)Wtsi> het early,20.75,HP:0001508,MP:0003960
+806,OMIM:609541,"Spastic Paraplegia, Optic Atrophy, And Neuropathy",KLC2,Klc2<tm1e(EUCOMM)Wtsi> hom early,39.425,"HP:0000648,HP:0000543,HP:0002267","MP:0006358,MP:0004738"
+807,OMIM:609628,Majeed Syndrome,LPIN2,Lpin2<tm1b(KOMP)Wtsi> hom early,42.515,"HP:0025066,HP:0010972,HP:0001433,HP:0001935,HP:0012132","MP:0002599,MP:0000702,MP:0010067,MP:0002874,MP:0005562,MP:0005642"
+808,OMIM:609638,"Epidermolysis Bullosa, Lethal Acantholytic",DSP,Dsp<em1(IMPC)Mbp> hom early,22.77,HP:0003811,MP:0011100
+809,OMIM:609638,"Epidermolysis Bullosa, Lethal Acantholytic",DSP,Dsp<em1(IMPC)Mbp> hom embryo,23.445,"HP:0003811,HP:0000695","MP:0002884,MP:0013294"
+810,OMIM:609734,"Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair",POMC,Pomc<em1(IMPC)Rbrc> het early,22,HP:0002173,MP:0005293
+811,OMIM:609734,"Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair",POMC,Pomc<em1(IMPC)Rbrc> het late,16.945,HP:0001396,"MP:0000691,MP:0000689"
+812,OMIM:609823,"Deafness, Autosomal Recessive 28",TRIOBP,Triobp<em1(IMPC)J> hom early,31.94,HP:0008625,MP:0004738
+813,OMIM:610006,2-Methylbutyryl-Coa Dehydrogenase Deficiency,ACADSB,Acadsb<em1(IMPC)J> hom early,35.1,HP:0001254,"MP:0001399,MP:0020870"
+814,OMIM:610017,Multiple Synostoses Syndrome 2,GDF5,Gdf5<em1(IMPC)H> hom early,43.33,"HP:0008368,HP:0009702,HP:0001762,HP:0002948,HP:0009700,HP:0001156,HP:0100264,HP:0003041","MP:0000556,MP:0000572,MP:0000062,MP:0002110,MP:0000550"
+815,OMIM:610019,Cataract 18,FYCO1,Fyco1<em1(IMPC)J> hom early,49.75,HP:0100018,MP:0001304
+816,OMIM:610042,Pitt-Hopkins-Like Syndrome 1,CNTNAP2,Cntnap2<em1(IMPC)H> hom early,24.705,"HP:0000718,HP:0007064,HP:0000752,HP:0007018",MP:0001415
+817,OMIM:610100,"Giant Axonal Neuropathy 2, Autosomal Dominant",DCAF8,Dcaf8<em1(IMPC)Ccpcz> hom early,35.18,"HP:0003376,HP:0001638","MP:0001402,MP:0000274,MP:0000266"
+818,OMIM:610127,"Ceroid Lipofuscinosis, Neuronal, 10",CTSD,Ctsd<tm1b(EUCOMM)Wtsi> hom early,24.915,HP:0003811,MP:0011110
+819,OMIM:610140,"Heart-Hand Syndrome, Slovenian Type",LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,35.14,"HP:0001156,HP:0010239,HP:0030084,HP:0001159",MP:0002764
+820,OMIM:610153,"Deafness, Autosomal Recessive 49",MARVELD2,Marveld2<tm1b(EUCOMM)Wtsi> hom early,33.3,HP:0000399,"MP:0002102,MP:0004738"
+821,OMIM:610168,Loeys-Dietz Syndrome 2,TGFBR2,Tgfbr2<em1(IMPC)Rbrc> het early,20.6,"HP:0001631,HP:0001647,HP:0001655,HP:0005182,HP:0001634","MP:0000274,MP:0000266"
+822,OMIM:610185,"Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2",WDR81,Wdr81<em1(IMPC)J> het late,34.32,"HP:0001007,HP:0002080,HP:0001337","MP:0000367,MP:0001486"
+823,OMIM:610188,Joubert Syndrome 5,CEP290,Cep290<em1(IMPC)Mbp> hom embryo,9.25,HP:0002085,MP:0001711
+824,OMIM:610193,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 10",DSG2,Dsg2<tm1b(EUCOMM)Wtsi> hom early,49.555,"HP:0012248,HP:0001962,HP:0004756,HP:0034304,HP:0004308,HP:0001645,HP:0011712,HP:0006682,HP:0032232,HP:0002224,HP:0011663","MP:0002753,MP:0005419,MP:0002966,MP:0001510,MP:0002833,MP:0005140,MP:0005567"
+825,OMIM:610198,"3-Methylglutaconic Aciduria, Type V",DNAJC19,Dnajc19<tm1a(EUCOMM)Hmgu> hom early,30.34,HP:0004856,MP:0005642
+826,OMIM:610202,"Cataract 21, Multiple Types",MAF,Maf<em1(IMPC)Mbp> het embryo,30.59,HP:0001104,MP:0001297
+827,OMIM:610202,"Cataract 21, Multiple Types",MAF,Maf<em1(IMPC)Mbp> het late,46.175,"HP:0000659,HP:0000612,HP:0000541,HP:0007957,HP:0000482,HP:0007976,HP:0007780","MP:0001304,MP:0002699"
+828,OMIM:610202,"Cataract 21, Multiple Types",MAF,Maf<em1(IMPC)Mbp> hom embryo,28.93,HP:0001104,MP:0001297
+829,OMIM:610220,"Deafness, Autosomal Recessive 59",PJVK,Pjvk<em1(IMPC)J> hom early,30.945,HP:0000407,MP:0004738
+830,OMIM:610253,Kleefstra Syndrome 1,EHMT1,Ehmt1<tm1b(EUCOMM)Hmgu> het early,30.625,"HP:0000718,HP:0007018,HP:0000733,HP:0001513,HP:0001520,HP:0001518,HP:0000722,HP:0000742,HP:0025502,HP:0000716,HP:0000741","MP:0002797,MP:0001363,MP:0003960,MP:0001417"
+831,OMIM:610256,Anterior Segment Dysgenesis 2,FOXE3,Foxe3<em1(IMPC)Mbp> hom early,58.955,"HP:0000647,HP:0000526,HP:0000659,HP:0000568,HP:0000518,HP:0007957,HP:0011484,HP:0000482,HP:0007779,HP:0007707","MP:0001297,MP:0001314,MP:0001293"
+832,OMIM:610313,Crisponi/Cold-Induced Sweating Syndrome 2,CLCF1,Clcf1<tm1.1(KOMP)Vlcg> het early,23.04,HP:0001377,MP:0000062
+833,OMIM:610333,Aicardi-Goutieres Syndrome 4,RNASEH2A,Rnaseh2a<em1(IMPC)Tcp> het early,54.295,"HP:0001433,HP:0001876,HP:0002240,HP:0001873,HP:0001332,HP:0001744","MP:0002599,MP:0001488,MP:0000220,MP:0002591,MP:0005505,MP:0004952,MP:0005562"
+834,OMIM:610359,Retinitis Pigmentosa 33,SNRNP200,Snrnp200<tm1b(KOMP)Mbp> het early,39.335,"HP:0007722,HP:0007843,HP:0000543,HP:0007737,HP:0000510",MP:0006243
+835,OMIM:610374,"Diabetes Mellitus, Transient Neonatal, 2",ABCC8,Abcc8<em1(IMPC)J> hom early,80.55,"HP:0005978,HP:0008255",MP:0005293
+836,OMIM:610448,Chilblain Lupus 1,TREX1,Trex1<em1(IMPC)Ccpcz> hom early,13.935,HP:0007460,MP:0002764
+837,OMIM:610475,"Pigmented Nodular Adrenocortical Disease, Primary, 2",PDE11A,Pde11a<em1(IMPC)Mbp> hom early,49.825,"HP:0000138,HP:0003118,HP:0003466,HP:0001580,HP:0002920,HP:0001579,HP:0000716,HP:0000712,HP:0000713","MP:0001146,MP:0001120,MP:0001126,MP:0001147,MP:0002574,MP:0009709"
+838,OMIM:610476,"Arrhythmogenic Right Ventricular Dysplasia, Familial, 11",DSC2,Dsc2<tm1e(KOMP)Wtsi> hom early,30.82,"HP:0001279,HP:0004308,HP:0001645,HP:0001962,HP:0011663",MP:0005542
+839,OMIM:610478,Retinal Cone Dystrophy 4,CACNA2D4,Cacna2d4<em1(IMPC)J> hom early,46.085,"HP:0000548,HP:0007814","MP:0010097,MP:0001325"
+840,OMIM:610505,Combined Oxidative Phosphorylation Deficiency 3,TSFM,Tsfm<tm1a(EUCOMM)Wtsi> het early,22.845,"HP:0001138,HP:0000648",MP:0001325
+841,OMIM:610536,"Mandibulofacial Dysostosis, Guion-Almeida Type",EFTUD2,Eftud2<tm1b(KOMP)Wtsi> het early,23.93,"HP:0001629,HP:0001631",MP:0010579
+842,OMIM:610536,"Mandibulofacial Dysostosis, Guion-Almeida Type",EFTUD2,Eftud2<tm1b(KOMP)Wtsi> het late,28.65,"HP:0001629,HP:0001631","MP:0003921,MP:0010580,MP:0002953"
+843,OMIM:610542,"Myasthenic Syndrome, Congenital, 12",GFPT1,Gfpt1<tm1b(EUCOMM)Wtsi> het early,22.25,HP:0008180,"MP:0005178,MP:0001556"
+844,OMIM:610582,"Diabetes Mellitus, Transient Neonatal, 3",KCNJ11,Kcnj11<tm1b(EUCOMM)Wtsi> hom early,56.62,"HP:0003074,HP:0040217,HP:0008255","MP:0002874,MP:0013278,MP:0005293"
+845,OMIM:610612,Leber Congenital Amaurosis 12,RD3,Rd3<em1(IMPC)Bay> hom early,52.295,HP:0008002,"MP:0003733,MP:0003731,MP:0011965,MP:0001325"
+846,OMIM:610623,"Cataract 11, Multiple Types",PITX3,Pitx3<tm1.1(KOMP)Vlcg> hom early,47.035,"HP:0000568,HP:0002072","MP:0001516,MP:0001293"
+847,OMIM:610644,"Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal",RSPO1,Rspo1<tm1.1(KOMP)Vlcg> hom early,38.065,"HP:0012861,HP:0008665,HP:0000047,HP:0003241,HP:0008734,HP:0008404,HP:0000062","MP:0001147,MP:0001146,MP:0002135,MP:0002098"
+848,OMIM:610644,"Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal",RSPO1,Rspo1<tm2b(KOMP)Wtsi> hom early,22.11,"HP:0002155,HP:0003124","MP:0002968,MP:0005553"
+849,OMIM:610708,Optic Atrophy 5,DNM1L,Dnm1l<tm1b(KOMP)Wtsi> het early,55.595,"HP:0000648,HP:0000543","MP:0002699,MP:0001289,MP:0008259"
+850,OMIM:610755,"Multiple Endocrine Neoplasia, Type Iv",CDKN1B,Cdkn1b<em2(IMPC)H> hom early,17.85,"HP:0030405,HP:0100570",MP:0008259
+851,OMIM:610759,Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects,SMC3,Smc3<tm1a(EUCOMM)Wtsi> het early,31.845,"HP:0000294,HP:0002553,HP:0000574,HP:0011230,HP:0001508,HP:0000527,HP:0000664,HP:0001007,HP:0007665,HP:0100874","MP:0002075,MP:0001262"
+852,OMIM:610878,Vesicoureteral Reflux 2,ROBO2,Robo2<em1(IMPC)Mbp> het early,56.49,"HP:0000076,HP:0000089","MP:0003068,MP:0002135"
+853,OMIM:610915,"Osteogenesis Imperfecta, Type Viii",P3H1,P3h1<tm1b(EUCOMM)Wtsi> hom early,40.42,"HP:0002982,HP:0005474,HP:0010049,HP:0000938,HP:0002986,HP:0008796,HP:0005855,HP:0003784,HP:0001382,HP:0002980,HP:0002757,HP:0000023,HP:0004331,HP:0000703","MP:0010124,MP:0010024,MP:0000063,MP:0012000"
+854,OMIM:610921,"Surfactant Metabolism Dysfunction, Pulmonary, 3",ABCA3,Abca3<tm1b(EUCOMM)Hmgu> hom early,20.665,HP:0003811,MP:0011100
+855,OMIM:610951,"Ceroid Lipofuscinosis, Neuronal, 7",MFSD8,Mfsd8<tm1b(EUCOMM)Hmgu> hom early,47.875,"HP:0000648,HP:0000488,HP:0000580","MP:0002792,MP:0006243,MP:0002075,MP:0001325"
+856,OMIM:610968,"Osteogenesis Imperfecta, Type Xi",FKBP10,Fkbp10<tm2a(EUCOMM)Wtsi> het early,34.24,"HP:0000938,HP:0002659,HP:0001382,HP:0002757",MP:0002896
+857,OMIM:610992,Phosphoserine Aminotransferase Deficiency,PSAT1,Psat1<tm1a(KOMP)Wtsi> het early,21.45,"HP:0012279,HP:0012277",MP:0005632
+858,OMIM:611087,"Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy",STRADA,Strada<em1(IMPC)Bay> hom embryo,29.14,"HP:0000179,HP:0000215,HP:0000154,HP:0000194","MP:0000111,MP:0009908"
+859,OMIM:611091,"Intellectual Developmental Disorder, Autosomal Recessive 5",NSUN2,Nsun2<tm1a(EUCOMM)Wtsi> het early,38.515,"HP:0002136,HP:0002066,HP:0002064",MP:0001406
+860,OMIM:611091,"Intellectual Developmental Disorder, Autosomal Recessive 5",NSUN2,Nsun2<tm1a(EUCOMM)Wtsi> hom early,43.765,"HP:0001518,HP:0000215,HP:0002066,HP:0000319,HP:0000431,HP:0000322,HP:0004692,HP:0002136,HP:0002064","MP:0001406,MP:0000443,MP:0002100,MP:0001262,MP:0005296"
+861,OMIM:611134,"Meckel Syndrome, Type 4",CEP290,Cep290<em1(IMPC)Mbp> hom embryo,13.54,"HP:0002323,HP:0002435,HP:0002084",MP:0001711
+862,OMIM:611263,Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly,IFT80,Ift80<tm1a(KOMP)Wtsi> het early,54.7,"HP:0008905,HP:0010049,HP:0001773,HP:0001169,HP:0003027,HP:0001156,HP:0001162","MP:0005108,MP:0000552"
+863,OMIM:611263,Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly,IFT80,Ift80<tm1a(KOMP)Wtsi> hom early,31.815,"HP:0001773,HP:0001156,HP:0010049,HP:0001162",MP:0004509
+864,OMIM:611363,Atrial Septal Defect 4,TBX20,Tbx20<em1(IMPC)Mbp> hom embryo,27.85,"HP:0001655,HP:0001631","MP:0000266,MP:0000269"
+865,OMIM:611369,Lethal Congenital Contracture Syndrome 3,PIP5K1C,Pip5k1c<tm1b(KOMP)Wtsi> hom early,37.88,HP:0003811,MP:0011100
+866,OMIM:611390,"Spastic Ataxia 3, Autosomal Recessive",MARS2,Mars2<tm1.1(KOMP)Vlcg> het early,22.705,"HP:0000012,HP:0000011",MP:0011436
+867,OMIM:611431,Legius Syndrome,SPRED1,Spred1<em1(IMPC)Ccpcz> hom early,46.24,"HP:0007018,HP:0030052,HP:0034349,HP:0000470,HP:0000997,HP:0000347,HP:0002705,HP:0001480,HP:0000957,HP:0000218","MP:0000455,MP:0000458,MP:0020421,MP:0004613,MP:0002100,MP:0004609,MP:0002797,MP:0000274,MP:0005270,MP:0004599,MP:0011239,MP:0000137,MP:0000266"
+868,OMIM:611465,Gallbladder Disease 4,ABCG8,Abcg8<tm1b(KOMP)Wtsi> hom early,25.04,HP:0001081,"MP:0000689,MP:0000599,MP:0000598,MP:0000691"
+869,OMIM:611497,"Osteopetrosis, Autosomal Recessive 6",PLEKHM1,Plekhm1<tm1b(EUCOMM)Hmgu> hom early,57.06,"HP:0033701,HP:0011002,HP:0100959,HP:0004975","MP:0010123,MP:0002764,MP:0000062"
+870,OMIM:611548,Premature Ovarian Failure 5,NOBOX,Nobox<tm1.1(KOMP)Vlcg> hom early,25.84,"HP:0010464,HP:0008724",MP:0002059
+871,OMIM:611719,Combined Oxidative Phosphorylation Deficiency 5,MRPS22,Mrps22<tm1.1(KOMP)Vlcg> het early,34.27,HP:0001987,MP:0005554
+872,OMIM:611783,"Erythrocytosis, Familial, 4",EPAS1,Epas1<tm1b(EUCOMM)Hmgu> het early,44.57,"HP:0001901,HP:0001900,HP:0001899",MP:0002874
+873,OMIM:611804,Elliptocytosis 1,EPB41,Epb41<tm1b(KOMP)Mbp> het early,47.09,"HP:0001744,HP:0004445,HP:0001878","MP:0005562,MP:0002591"
+874,OMIM:611878,"Cardiomyopathy, Dilated, 1Y",TPM1,Tpm1<tm1a(EUCOMM)Wtsi> het early,20.12,"HP:0001644,HP:0011664,HP:0010316",MP:0002833
+875,OMIM:611890,Congenital Arthrogryposis With Anterior Horn Cell Disease,GLE1,Gle1<tm1a(EUCOMM)Wtsi> hom early,25.96,HP:0003811,MP:0011100
+876,OMIM:611938,"Ventricular Tachycardia, Catecholaminergic Polymorphic, 2",CASQ2,Casq2<tm1b(KOMP)Wtsi> het early,65.085,"HP:0001662,HP:0001279,HP:0031677,HP:0004756","MP:0004122,MP:0003929"
+877,OMIM:612015,"Congenital Disorder Of Glycosylation, Type In",RFT1,Rft1<tm1b(KOMP)Wtsi> het early,26.2,HP:0001181,MP:0004357
+878,OMIM:612067,Dystonia 16,PRKRA,Prkra<em1(IMPC)H> hom early,21.22,HP:0002015,MP:0020421
+879,OMIM:612138,"Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia",PLEC,Plec<em1(IMPC)Bay> hom early,28.4,HP:0003811,MP:0011100
+880,OMIM:612138,"Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia",PLEC,Plec<em1(IMPC)Bay> hom embryo,36.13,HP:0001561,MP:0001785
+881,OMIM:612225,"Maturity-Onset Diabetes Of The Young, Type 9",PAX4,Pax4<tm1b(EUCOMM)Hmgu> het early,33.18,HP:0040217,"MP:0002968,MP:0005568"
+882,OMIM:612287,"Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2",NHERF1,Nherf1<em1(IMPC)H> hom early,36.805,HP:0002148,MP:0004151
+883,OMIM:612290,"Microtia, Hearing Impairment, And Cleft Palate",HOXA2,Hoxa2<tm1b(EUCOMM)Wtsi> het early,22.04,"HP:0008551,HP:0031229,HP:0000410,HP:0000396",MP:0004738
+884,OMIM:612319,"Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration",FA2H,Fa2h<em1(IMPC)Mbp> hom early,28.625,"HP:0000648,HP:0000012,HP:0000020","MP:0003068,MP:0002135,MP:0002699,MP:0001325"
+885,OMIM:612347,Jervell And Lange-Nielsen Syndrome 2,KCNE1,Kcne1<tm1b(EUCOMM)Hmgu> hom early,17.625,HP:0008527,MP:0004738
+886,OMIM:612379,"Congenital Disorder Of Glycosylation, Type Iq",SRD5A3,Srd5a3<tm1b(EUCOMM)Wtsi> het early,16.52,"HP:0000648,HP:0000369",MP:0004738
+887,OMIM:612394,Bcard Syndrome,PLOD3,Plod3<tm1.1(KOMP)Wtsi> het early,18.105,"HP:0000407,HP:0000369",MP:0004738
+888,OMIM:612394,Bcard Syndrome,PLOD3,Plod3<tm1.1(KOMP)Wtsi> hom embryo,31.69,"HP:0001511,HP:0008897","MP:0003984,MP:0001697"
+889,OMIM:612431,"Deafness, Autosomal Dominant 27",REST,Rest<tm2b(EUCOMM)Wtsi> het early,38.685,HP:0000407,MP:0004738
+890,OMIM:612526,"Lipodystrophy, Congenital Generalized, Type 3",CAV1,Cav1<em2(IMPC)Ics> hom early,57.625,"HP:0003124,HP:0002901,HP:0001433,HP:0002155,HP:0001744","MP:0002590,MP:0005561,MP:0005564,MP:0005178,MP:0001556"
+891,OMIM:612529,"Amelogenesis Imperfecta, Hypomaturation Type, Iia2",MMP20,Mmp20<em1(IMPC)Ccpcz> hom early,66.555,"HP:0006286,HP:0033786,HP:0009102,HP:0000705","MP:0013129,MP:0010024,MP:0002100"
+892,OMIM:612572,Retinitis Pigmentosa 46,IDH3B,Idh3b<em1(IMPC)J> hom late,43.665,"HP:0000510,HP:0007843,HP:0000543,HP:0000580",MP:0001325
+893,OMIM:612644,"Deafness, Autosomal Dominant 2B",GJB3,Gjb3<tm1.1(KOMP)Vlcg> het early,47.24,HP:0005101,MP:0004738
+894,OMIM:612656,"Episodic Ataxia, Type 6",SLC1A3,Slc1a3<tm1.1(KOMP)Mbp> het early,24.97,"HP:0002131,HP:0002078",MP:0002574
+895,OMIM:612713,Kahrizi Syndrome,SRD5A3,Srd5a3<tm1b(EUCOMM)Wtsi> hom embryo,21.65,HP:0004322,MP:0003984
+896,OMIM:612740,"Porphyria, Acute Hepatic",ALAD,Alad<em1(IMPC)Tcp> het early,19.495,"HP:0003163,HP:0001878","MP:0011874,MP:0000709"
+897,OMIM:612740,"Porphyria, Acute Hepatic",ALAD,Alad<em1(IMPC)Tcp> het late,39.1,"HP:0003163,HP:0001878","MP:0011874,MP:0010068"
+898,OMIM:612780,"Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance",KCNJ10,Kcnj10<tm1b(KOMP)Wtsi> het early,36.375,"HP:0002080,HP:0001251,HP:0002075","MP:0000745,MP:0001488"
+899,OMIM:612783,Immunodeficiency 10,STIM1,Stim1<em1(IMPC)Mbp> het early,51.33,"HP:0001973,HP:0001890,HP:0000100,HP:0040088,HP:0000010,HP:0002716,HP:0002240,HP:0001744","MP:0002339,MP:0000702,MP:0003068,MP:0000218,MP:0005013,MP:0000219"
+900,OMIM:612783,Immunodeficiency 10,STIM1,Stim1<em1(IMPC)Mbp> het embryo,24.06,HP:0007676,MP:0001297
+901,OMIM:612783,Immunodeficiency 10,STIM1,Stim1<em1(IMPC)Mbp> het late,45.935,"HP:0007676,HP:0001973,HP:0001890,HP:0000100,HP:0040088,HP:0002716,HP:0002240,HP:0001744","MP:0002989,MP:0002135,MP:0001304,MP:0000689,MP:0000691"
+902,OMIM:612783,Immunodeficiency 10,STIM1,Stim1<em1(IMPC)Mbp> hom embryo,24.06,HP:0007676,MP:0001297
+903,OMIM:612840,"Leukocyte Adhesion Deficiency, Type Iii",FERMT3,Fermt3<tm1b(KOMP)Wtsi> hom embryo,28.665,HP:0000421,MP:0001914
+904,OMIM:612847,Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes,PAPSS2,Papss2<em1(IMPC)Bay> hom embryo,17.085,"HP:0009816,HP:0001156,HP:0002979",MP:0002109
+905,OMIM:612877,"Cardiomyopathy, Dilated, 1Bb",DSG2,Dsg2<tm1b(EUCOMM)Wtsi> hom early,43.92,"HP:0001635,HP:0012666,HP:0033755,HP:0001644,HP:0011713","MP:0002833,MP:0002753,MP:0005140"
+906,OMIM:612923,"Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3",CFI,Cfi<tm1b(EUCOMM)Hmgu> hom early,50.115,"HP:0001903,HP:0001937,HP:0001873,HP:0003138,HP:0003259","MP:0002941,MP:0003179"
+907,OMIM:612924,"Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4",CFB,Cfb<tm1.1(KOMP)Wtsi> hom early,46.275,"HP:0005575,HP:0001903,HP:0000093,HP:0003259,HP:0001919,HP:0100519,HP:0001937,HP:0001873,HP:0003138,HP:0000790","MP:0002135,MP:0000198,MP:0005564,MP:0003131,MP:0002608"
+908,OMIM:612961,Multiple Synostoses Syndrome 3,FGF9,Fgf9<tm1b(KOMP)Wtsi> hom embryo,49.475,HP:0000175,MP:0000111
+909,OMIM:613003,"Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7",TPH2,Tph2<em1(IMPC)Mbp> hom early,51.805,"HP:0007018,HP:0000716",MP:0001417
+910,OMIM:613027,Glycogen Storage Disease Ixc,PHKG2,Phkg2<tm1.1(KOMP)Vlcg> het early,14.105,HP:0001744,"MP:0003131,MP:0002608,MP:0005564"
+911,OMIM:613065,"Leukemia, Acute Lymphoblastic",FLT3,Flt3<em1(IMPC)Ccpcz> hom early,23.85,HP:0006721,"MP:0000689,MP:0013771,MP:0008045"
+912,OMIM:613073,Metaphyseal Anadysplasia 2,MMP9,Mmp9<tm1b(EUCOMM)Wtsi> hom early,66.46,"HP:0003016,HP:0002983,HP:0100864,HP:0003025,HP:0002979,HP:0002970",MP:0002764
+913,OMIM:613094,"Microphthalmia, Isolated 4",GDF6,Gdf6<em1(IMPC)Ccpcz> het early,39.675,"HP:0100259,HP:0010469","MP:0000703,MP:0000709,MP:0002110"
+914,OMIM:613115,"Neuropathy, Hereditary Sensory And Autonomic, Type Iib",RETREG1,Retreg1<em1(IMPC)J> hom early,24.165,HP:0012407,MP:0001392
+915,OMIM:613148,"Inflammatory Bowel Disease 28, Autosomal Recessive",IL10RA,Il10ra<tm1b(KOMP)Wtsi> hom early,16.1,HP:0009789,"MP:0000219,MP:0005016"
+916,OMIM:613172,"Cardiomyopathy, Dilated, 1Dd",RBM20,Rbm20<em1(IMPC)Mbp> hom early,26.52,HP:0001644,MP:0000277
+917,OMIM:613177,"Cutis Laxa, Autosomal Recessive, Type Ic",LTBP4,Ltbp4<em1(IMPC)Tcp> hom early,30.785,"HP:0001747,HP:0001541,HP:0001852,HP:0000778,HP:0001667","MP:0000220,MP:0002607,MP:0000157,MP:0000691"
+918,OMIM:613192,"Intellectual Developmental Disorder, Autosomal Recessive 13",TRAPPC9,Trappc9<tm1a(EUCOMM)Wtsi> hom early,17.515,"HP:0000664,HP:0001956","MP:0003961,MP:0002098"
+919,OMIM:613205,"Muscular Dystrophy, Congenital, Lmna-Related",LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,16.665,"HP:0003273,HP:0001883,HP:0001771",MP:0002764
+920,OMIM:613216,"Night Blindness, Congenital Stationary, Type 1C",TRPM1,Trpm1<tm1b(KOMP)Wtsi> hom early,23.255,HP:0007642,MP:0006243
+921,OMIM:613227,"Spinocerebellar Ataxia, Autosomal Recessive 34",CA8,Car8<em1(IMPC)Bay> hom early,54.63,"HP:0001251,HP:0009878",MP:0001406
+922,OMIM:613254,Tuberous Sclerosis 2,IFNG,Ifng<tm1.1(KOMP)Vlcg> het early,19.125,HP:0012798,MP:0001175
+923,OMIM:613285,"Deafness, Autosomal Recessive 25",GRXCR1,Grxcr1<em1(IMPC)J> hom early,35.86,"HP:0000365,HP:0000408","MP:0002102,MP:0004738"
+924,OMIM:613307,"Deafness, Autosomal Recessive 79",TPRN,Tprn<tm1.1(KOMP)Vlcg> hom early,40.795,"HP:0000407,HP:0000408",MP:0004738
+925,OMIM:613312,"Hypophosphatemic Rickets, Autosomal Recessive, 2",ENPP1,Enpp1<em1(IMPC)Ccpcz> hom early,32.53,"HP:0001642,HP:0002673,HP:0002750,HP:0002857,HP:0004912,HP:0002970","MP:0002932,MP:0004122,MP:0004609,MP:0002968,MP:0004357,MP:0000274,MP:0005333,MP:0010506,MP:0000149,MP:0000266"
+926,OMIM:613345,"Hypokalemic Periodic Paralysis, Type 2",SCN4A,Scn4a<tm2b(KOMP)Wtsi> het early,22.105,HP:0002900,"MP:0002966,MP:0008806"
+927,OMIM:613375,"Maturity-Onset Diabetes Of The Young, Type 11",BLK,Blk<tm1.1(KOMP)Vlcg> hom early,19.965,HP:0004904,MP:0001147
+928,OMIM:613385,"Autoimmune Disease, Multisystem, With Facial Dysmorphism",ITCH,Itch<tm1(NCOM)Cmhd> het early,19.75,"HP:0001971,HP:0001876,HP:0001744",MP:0002590
+929,OMIM:613385,"Autoimmune Disease, Multisystem, With Facial Dysmorphism",ITCH,Itch<tm1b(EUCOMM)Hmgu> hom early,49.295,"HP:0002020,HP:0001409,HP:0001531,HP:0012115,HP:0001876,HP:0000322,HP:0100651,HP:0001377,HP:0002028,HP:0012385,HP:0001971,HP:0002240,HP:0001744","MP:0013278,MP:0002591,MP:0010067,MP:0004952,MP:0002100,MP:0005560,MP:0000691,MP:0002606,MP:0005013,MP:0000467,MP:0000208,MP:0005011,MP:0005562,MP:0002833,MP:0010025,MP:0000219,MP:0003068,MP:0002874,MP:0012362,MP:0003960,MP:0000218,MP:0000063,MP:0009342,MP:0005016"
+930,OMIM:613471,Reynolds Syndrome,LBR,Lbr<em1(IMPC)Tcp> hom early,37.275,"HP:0100869,HP:0001888,HP:0003761,HP:0002904,HP:0001744","MP:0000702,MP:0000220,MP:0002966,MP:0005562,MP:0002110,MP:0005016,MP:0000219"
+931,OMIM:613477,Developmental And Epileptic Encephalopathy 5,SPTAN1,Sptan1<em1(IMPC)Mbp> hom embryo,43.98,"HP:0002059,HP:0000252,HP:0000253,HP:0002079,HP:0034295,HP:0002120",MP:0000433
+932,OMIM:613489,"Congenital Disorder Of Glycosylation, Type Iij",COG4,Cog4<em1(IMPC)Bay> het late,27.235,HP:0000737,MP:0001399
+933,OMIM:613493,"Immunodeficiency, Common Variable, 3",CD19,Cd19<em2(IMPC)Ics> hom early,46.255,"HP:0030388,HP:0010975,HP:0011839","MP:0000220,MP:0005016"
+934,OMIM:613502,"Agammaglobulinemia 4, Autosomal Recessive",BLNK,Blnk<em1(IMPC)H> hom early,55.495,"HP:0002843,HP:0001875","MP:0002607,MP:0004953,MP:0005011,MP:0000692,MP:0005016,MP:0000221,MP:0000219"
+935,OMIM:613563,Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia,CBL,Cbl<tm1b(EUCOMM)Hmgu> het early,21.855,"HP:0001647,HP:0001653,HP:0001650","MP:0002953,MP:0003896"
+936,OMIM:613610,Cranioectodermal Dysplasia 2,WDR35,Wdr35<em1(IMPC)Hmgu> het early,18.3,"HP:0000083,HP:0000107",MP:0002135
+937,OMIM:613611,Choanal Atresia And Lymphedema,PTPN14,Ptpn14<tm1.1(KOMP)Vlcg> hom early,21.945,HP:0001698,MP:0000274
+938,OMIM:613630,Fetal Encasement Syndrome,CHUK,Chuk<em1(IMPC)Ccpcz> hom embryo,16,"HP:0009816,HP:0009824",MP:0002109
+939,OMIM:613670,Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features,FOXP1,Foxp1<tm1b(KOMP)Wtsi> het early,53.465,"HP:0000718,HP:0007018,HP:0000733,HP:0001531,HP:0001513,HP:0000722,HP:0000732,HP:0100716","MP:0001399,MP:0003960"
+940,OMIM:613672,"Spastic Ataxia 4, Autosomal Recessive",MTPAP,Mtpap<tm1.1(KOMP)Vlcg> het early,38.575,"HP:0002070,HP:0002497,HP:0002066,HP:0000712","MP:0001392,MP:0001399"
+941,OMIM:613676,Seckel Syndrome 4,CPAP,Cpap<tm1a(EUCOMM)Wtsi> hom early,44.855,"HP:0010455,HP:0001525,HP:0004325","MP:0003961,MP:0004609,MP:0001262,MP:0005108,MP:0005296,MP:0000558,MP:0002932"
+942,OMIM:613680,Beaulieu-Boycott-Innes Syndrome,THOC6,Thoc6<em5(IMPC)Tcp> het early,27.15,HP:0030127,MP:0004832
+943,OMIM:613694,"Cardiomyopathy, Dilated, 1U",PSEN1,Psen1<tm1.1(KOMP)Vlcg> hom embryo,40.06,"HP:0001635,HP:0001279,HP:0012666,HP:0033755,HP:0011705,HP:0001644,HP:0011713",MP:0001914
+944,OMIM:613697,"Cardiomyopathy, Dilated, 1V",PSEN2,Psen2<em1(IMPC)Ccpcz> hom early,24.2,"HP:0001712,HP:0001644",MP:0000266
+945,OMIM:613703,Microphthalmia/Coloboma 6,GDF6,Gdf6<em1(IMPC)Ccpcz> het early,36.44,"HP:0007750,HP:0007766","MP:0008259,MP:0010097,MP:0001325"
+946,OMIM:613730,"Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts",JAM3,Jam3<tm1.1(KOMP)Vlcg> hom early,24.915,HP:0003811,MP:0011110
+947,OMIM:613744,"Spastic Paraplegia 51, Autosomal Recessive",AP4E1,Ap4e1<tm1a(KOMP)Wtsi> hom early,27.44,"HP:0025502,HP:0002540,HP:0001371","MP:0003960,MP:0010025,MP:0000062,MP:0001402"
+948,OMIM:613744,"Spastic Paraplegia 51, Autosomal Recessive",AP4E1,Ap4e1<tm1b(KOMP)Wtsi> hom early,24.445,"HP:0025502,HP:0001371,HP:0002540","MP:0002757,MP:0003960,MP:0010025"
+949,OMIM:613744,"Spastic Paraplegia 51, Autosomal Recessive",AP4E1,Ap4e1<em1(IMPC)J> hom early,24.53,HP:0002540,MP:0002757
+950,OMIM:613756,Retinitis Pigmentosa 49,CNGA1,Cnga1<em1(IMPC)Bay> hom early,50.72,"HP:0000510,HP:0007843,HP:0000543,HP:0007737","MP:0003731,MP:0011965"
+951,OMIM:613758,Retinitis Pigmentosa 47,SAG,Sag<tm1a(EUCOMM)Wtsi> hom early,31.895,HP:0000533,MP:0004222
+952,OMIM:613794,Retinitis Pigmentosa 20,RPE65,Rpe65<tm1a(EUCOMM)Hmgu> hom early,41.97,"HP:0000510,HP:0007843","MP:0006243,MP:0001325"
+953,OMIM:613808,"Ciliary Dyskinesia, Primary, 15",CCDC40,Ccdc40<em1(IMPC)J> hom early,37.13,"HP:0012208,HP:0000789",MP:0001925
+954,OMIM:613834,Smooth Muscle Dysfunction Syndrome,ACTA2,Acta2<em1(IMPC)H> hom early,18.54,HP:0001631,MP:0002834
+955,OMIM:613849,"Osteogenesis Imperfecta, Type Xii",SP7,Sp7<em1(IMPC)Ccpcz> hom embryo,42.09,HP:0000244,MP:0011495
+956,OMIM:613861,Retinitis Pigmentosa 59,DHDDS,Dhdds<tm1b(KOMP)Wtsi> het early,35.355,"HP:0000510,HP:0011505,HP:0001257","MP:0000745,MP:0011965"
+957,OMIM:613886,"Obesity, Hyperphagia, And Developmental Delay",NTRK2,Ntrk2<tm1b(EUCOMM)Wtsi> het early,19.305,HP:0001513,MP:0003960
+958,OMIM:613960,"Granulomatous Disease, Chronic, Autosomal Recessive, 3",NCF4,Ncf4<tm1b(KOMP)Wtsi> hom early,26.925,HP:0011227,MP:0008806
+959,OMIM:613970,"Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures",GRIN2B,Grin2b<tm1e.1(KOMP)Wtsi> het early,27.915,HP:0001332,MP:0001488
+960,OMIM:613987,"Dyskeratosis Congenita, Autosomal Recessive 2",NHP2,Nhp2<tm1a(KOMP)Wtsi> het early,33.62,"HP:0001876,HP:0001873",MP:0002599
+961,OMIM:614008,Nestor-Guillermo Progeria Syndrome,BANF1,Banf1<em1(IMPC)J> het early,22.745,"HP:0002209,HP:0045075,HP:0001596,HP:0008404,HP:0000653","MP:0001510,MP:0000367"
+962,OMIM:614017,"Ciliary Dyskinesia, Primary, 16",DNAL1,Dnal1<tm1.1(KOMP)Vlcg> het early,26.685,HP:0002110,MP:0001175
+963,OMIM:614018,"Epilepsy, Progressive Myoclonic, 6",GOSR2,Gosr2<tm1b(EUCOMM)Hmgu> het early,52.32,"HP:0002505,HP:0001251,HP:0003236,HP:0001288","MP:0001406,MP:0008806"
+964,OMIM:614020,"Intellectual Developmental Disorder, Autosomal Recessive 14",TECR,Tecr<em1(IMPC)Rbrc> het late,23.48,HP:0000189,MP:0000470
+965,OMIM:614023,Phosphoserine Phosphatase Deficiency,PSPH,Psph<tm1.1(KOMP)Vlcg> hom embryo,27.84,HP:0001511,MP:0001697
+966,OMIM:614034,Heme Oxygenase 1 Deficiency,HMOX1,Hmox1<em1(IMPC)Mbp> hom embryo,18.18,HP:0001510,MP:0003984
+967,OMIM:614052,"Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2",TMEM70,Tmem70<em2(IMPC)Bay> het embryo,32,"HP:0001537,HP:0001511,HP:0001510","MP:0003984,MP:0001697,MP:0001700"
+968,OMIM:614052,"Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2",TMEM70,Tmem70<em2(IMPC)Bay> hom early,21.4,HP:0003811,MP:0011100
+969,OMIM:614052,"Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2",TMEM70,Tmem70<em2(IMPC)Bay> hom embryo,34.265,"HP:0003811,HP:0001537,HP:0001511,HP:0001510","MP:0003984,MP:0002151,MP:0001691,MP:0001700,MP:0001672,MP:0001697,MP:0013293,MP:0002884"
+970,OMIM:614065,"Myopathy, Distal, 4",FLNC,Flnc<em1(IMPC)Bay> hom embryo,30.91,HP:0001638,"MP:0000266,MP:0000269"
+971,OMIM:614069,Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2,ZBTB24,Zbtb24<tm1b(EUCOMM)Hmgu> het early,16.58,HP:0010976,MP:0010068
+972,OMIM:614074,Hermansky-Pudlak Syndrome 5,HPS5,Hps5<em1(IMPC)J> hom early,55.87,"HP:0001022,HP:0001107,HP:0012805","MP:0012122,MP:0005102,MP:0002075"
+973,OMIM:614075,Hermansky-Pudlak Syndrome 6,HPS6,Hps6<em1(IMPC)Tcp> hom early,38.325,"HP:0033263,HP:0001104,HP:0001010,HP:0001022,HP:0030825,HP:0007443,HP:0012805,HP:0001107","MP:0000692,MP:0002546,MP:0010097,MP:0001325,MP:0000706,MP:0002792,MP:0002075"
+974,OMIM:614076,Hermansky-Pudlak Syndrome 7,DTNBP1,Dtnbp1<tm1b(EUCOMM)Hmgu> hom early,46.6,"HP:0001022,HP:0001107","MP:0005102,MP:0002075,MP:0001325"
+975,OMIM:614080,Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1,PIGN,Pign<em1(IMPC)Mbp> het early,35.145,"HP:0000076,HP:0000034,HP:0000126,HP:0000073,HP:0032464","MP:0002989,MP:0001146,MP:0002135,MP:0001148"
+976,OMIM:614080,Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1,PIGN,Pign<em1(IMPC)Mbp> hom embryo,30.14,"HP:0001561,HP:0000175,HP:0002007","MP:0011495,MP:0008797,MP:0001785"
+977,OMIM:614083,"Fanconi Anemia, Complementation Group L",FANCL,Fancl<tm1b(EUCOMM)Hmgu> hom early,19.375,"HP:0000957,HP:0001903,HP:0005528","MP:0005011,MP:0002075,MP:0002606"
+978,OMIM:614091,Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly,WDR35,Wdr35<em1(IMPC)Hmgu> het early,21.68,"HP:0000107,HP:0000047,HP:0000113,HP:0000089",MP:0002135
+979,OMIM:614096,Combined Oxidative Phosphorylation Deficiency 8,AARS2,Aars2<tm1(KOMP)Wtsi> het early,27.66,"HP:0001640,HP:0001639",MP:0003921
+980,OMIM:614096,Combined Oxidative Phosphorylation Deficiency 8,AARS2,Aars2<tm1(KOMP)Wtsi> hom early,26.235,HP:0003811,MP:0011100
+981,OMIM:614098,Keppen-Lubinsky Syndrome,KCNJ6,Kcnj6<em1(IMPC)H> hom early,18.59,HP:0002179,MP:0001523
+982,OMIM:614129,Perrault Syndrome 3,CLPP,Clpp<tm1a(EUCOMM)Wtsi> hom early,28.43,"HP:0000407,HP:0010464,HP:0000786,HP:0000815","MP:0001925,MP:0001926,MP:0004738"
+983,OMIM:614160,Muscle Hypertrophy,MSTN,Mstn<em1(IMPC)Hmgu> hom early,37.1,HP:0003712,MP:0000759
+984,OMIM:614162,Immunodeficiency 31C,STAT1,Stat1<tm2b(EUCOMM)Wtsi> hom early,46.7,"HP:0001890,HP:0000938,HP:0001888,HP:0003347,HP:0002716,HP:0001744","MP:0005011,MP:0000702,MP:0002591,MP:0000220,MP:0012362,MP:0000218,MP:0005562,MP:0010124,MP:0005013,MP:0005016,MP:0000219,MP:0002606"
+985,OMIM:614170,Brittle Cornea Syndrome 2,PRDM5,Prdm5<em1(IMPC)Tcp> hom early,18.62,HP:0000365,MP:0004738
+986,OMIM:614171,Hermansky-Pudlak Syndrome 9,BLOC1S6,Bloc1s6<em1(IMPC)Mbp> hom early,24.275,"HP:0001107,HP:0001010",MP:0002075
+987,OMIM:614172,Immunodeficiency 21,GATA2,Gata2<tm1b(KOMP)Wtsi> het early,33.39,HP:0032242,"MP:0004727,MP:0004931,MP:0002631,MP:0001126"
+988,OMIM:614185,Geleophysic Dysplasia 2,FBN1,Fbn1<em1(IMPC)H> het early,18.645,HP:0002240,MP:0004952
+989,OMIM:614201,"Bleeding Disorder, Platelet-Type, 11",GP6,Gp6<tm2b(EUCOMM)Hmgu> hom early,19.11,HP:0011873,MP:0005013
+990,OMIM:614203,Parkinson Disease 17,VPS35,Vps35<em1(IMPC)H> het early,31.715,HP:0002304,MP:0001406
+991,OMIM:614222,Warburg Micro Syndrome 3,RAB18,Rab18<Gt(EUCE0233a03)Hmgu> het early,23.505,HP:0000648,MP:0006243
+992,OMIM:614225,Warburg Micro Syndrome 2,RAB3GAP2,Rab3gap2<tm1b(KOMP)Wtsi> hom early,44.39,"HP:0000519,HP:0003196,HP:0000518,HP:0000482,HP:0000648","MP:0001304,MP:0001289,MP:0008259,MP:0000443"
+993,OMIM:614229,"Spinocerebellar Ataxia, Autosomal Recessive 11",SYT14,Syt14<em1(IMPC)J> hom early,30.77,"HP:0001251,HP:0002070,HP:0002078",MP:0000745
+994,OMIM:614257,Chromosome 20Q11-Q12 Deletion Syndrome,EPB41L1,Epb41l1<tm1b(EUCOMM)Wtsi> hom early,15.175,HP:0012385,MP:0010025
+995,OMIM:614278,Platelet-Activating Factor Acetylhydrolase Deficiency,PLA2G7,Pla2g7<em1(IMPC)J> hom early,39.54,HP:0040178,"MP:0005344,MP:0002968"
+996,OMIM:614284,"Stickler Syndrome, Type V",COL9A2,Col9a2<tm1b(EUCOMM)Wtsi> hom early,20.615,HP:0000407,"MP:0002102,MP:0004738"
+997,OMIM:614300,Hypermethioninemia Due To Adenosine Kinase Deficiency,ADK,Adk<em1(IMPC)Ccpcz> het early,16.98,"HP:0006580,HP:0001396,HP:0001397",MP:0000689
+998,OMIM:614321,"Myopathy, Distal, Tateyama Type",CAV3,Cav3<em1(IMPC)Kmpc> hom late,19.98,HP:0031956,MP:0011877
+999,OMIM:614388,Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1,DNM1L,Dnm1l<tm1b(KOMP)Wtsi> het early,44.335,"HP:0000648,HP:0000543","MP:0002699,MP:0001289,MP:0008259"
+1000,OMIM:614424,Joubert Syndrome 14,TMEM237,Tmem237<tm1b(EUCOMM)Hmgu> het early,34.21,"HP:0001629,HP:0100259,HP:0002553,HP:0000737,HP:0025514,HP:0000648","MP:0020421,MP:0001325,MP:0004357,MP:0000274,MP:0000627,MP:0000266"
+1001,OMIM:614450,"Hypothyroidism, Congenital, Nongoitrous, 6",THRA,Thra<tm1b(EUCOMM)Wtsi> het early,25.43,"HP:0002136,HP:0001374","MP:0002574,MP:0002764"
+1002,OMIM:614450,"Hypothyroidism, Congenital, Nongoitrous, 6",THRA,Thra<tm1b(EUCOMM)Wtsi> het late,37.705,"HP:0002136,HP:0001903,HP:0001539","MP:0002574,MP:0002608,MP:0010025"
+1003,OMIM:614458,Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type),TPK1,Tpk1<em1(IMPC)J> het late,36.73,"HP:0002080,HP:0002066,HP:0002078,HP:0002131,HP:0001251,HP:0001332","MP:0001513,MP:0001523"
+1004,OMIM:614480,"Hypertriglyceridemia, Transient Infantile",GPD1,Gpd1<em1(IMPC)Hmgu> hom early,30.34,HP:0002155,"MP:0005627,MP:0000194,MP:0005553,MP:0001566"
+1005,OMIM:614495,"Pseudohypoaldosteronism, Type Iid",KLHL3,Klhl3<tm1b(KOMP)Wtsi> hom early,56.825,"HP:0002153,HP:0011423","MP:0005627,MP:0002968"
+1006,OMIM:614559,Infantile Cerebellar-Retinal Degeneration,ACO2,Aco2<Gt(EUC0050e03)Hmgu> het early,36.96,"HP:0004325,HP:0001508",MP:0001262
+1007,OMIM:614563,"Cortical Dysplasia, Complex, With Other Brain Malformations 13",DYNC1H1,Dync1h1<tm1dIcs> het early,32.7,"HP:0030051,HP:0002515,HP:0001288",MP:0001402
+1008,OMIM:614576,"Congenital Disorder Of Glycosylation, Type Iil",COG6,Cog6<tm1a(EUCOMM)Wtsi> hom early,45.215,"HP:0001394,HP:0001876,HP:0001396,HP:0003236,HP:0002240,HP:0001873,HP:0001744","MP:0013435,MP:0013022,MP:0002599,MP:0010168,MP:0008206,MP:0010067,MP:0005568,MP:0010851,MP:0013775,MP:0013154,MP:0013430,MP:0013675,MP:0008079,MP:0008173,MP:0013417,MP:0009926,MP:0013157,MP:0013669,MP:0013433,MP:0013421,MP:0005642,MP:0008097,MP:0008346,MP:0008806,MP:0012765,MP:0000208,MP:0008040,MP:0002875,MP:0005011,MP:0012767,MP:0008045,MP:0008074,MP:0005562,MP:0013427,MP:0013426,MP:0013418,MP:0013513,MP:0013764,MP:0010835,MP:0000220,MP:0002874,MP:0013511,MP:0000218,MP:0013772,MP:0005018,MP:0013522,MP:0008182,MP:0005344,MP:0002968,MP:0000322,MP:0013519,MP:0005343"
+1009,OMIM:614582,Combined Oxidative Phosphorylation Deficiency 9,MRPL3,Mrpl3<em1(IMPC)J> het early,31.705,HP:0003348,"MP:0005344,MP:0002968"
+1010,OMIM:614583,Baraitser-Winter Syndrome 2,ACTG1,Actg1<tm1.1(KOMP)Vlcg> hom embryo,47.41,"HP:0000568,HP:0004322","MP:0001297,MP:0003984"
+1011,OMIM:614602,Trichohepatoenteric Syndrome 2,SKIC2,Skic2<tm2b(EUCOMM)Wtsi> het early,29.73,HP:0040303,"MP:0003020,MP:0005568"
+1012,OMIM:614608,Coffin-Siris Syndrome 3,SMARCB1,Smarcb1<tm1b(EUCOMM)Hmgu> het early,25.705,"HP:0002209,HP:0000574,HP:0000527,HP:0001007,HP:0000998",MP:0001510
+1013,OMIM:614621,Uv-Sensitive Syndrome 2,ERCC8,Ercc8<em1(IMPC)H> hom early,42.305,HP:0010472,"MP:0001556,MP:0005178"
+1014,OMIM:614651,"Coenzyme Q10 Deficiency, Primary, 2",PDSS1,Pdss1<em1(IMPC)Mbp> het early,26.39,HP:0000648,MP:0001325
+1015,OMIM:614652,"Coenzyme Q10 Deficiency, Primary, 3",PDSS2,Pdss2<tm1b(EUCOMM)Hmgu> het early,23.73,HP:0003073,MP:0005344
+1016,OMIM:614653,"Neuropathy, Hereditary Sensory And Autonomic, Type Vi",DST,Dst<tm1b(EUCOMM)Wtsi> het early,25.88,HP:0000573,"MP:0001289,MP:0010097"
+1017,OMIM:614653,"Neuropathy, Hereditary Sensory And Autonomic, Type Vi",DST,Dst<tm1b(EUCOMM)Wtsi> het embryo,17.95,HP:0001511,MP:0001697
+1018,OMIM:614669,Auriculocondylar Syndrome 2A,PLCB4,Plcb4<tm1b(EUCOMM)Wtsi> hom early,22.88,"HP:0000358,HP:0000369,HP:0008537,HP:0000365,HP:0004453,HP:0008559",MP:0004738
+1019,OMIM:614700,"Immunodeficiency, Common Variable, 8, With Autoimmunity",LRBA,Lrba<em1(IMPC)Wtsi> hom early,14.36,HP:0000403,MP:0000023
+1020,OMIM:614736,Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency,NNT,Nnt<em1(IMPC)H> hom early,40.9,"HP:0002902,HP:0001943,HP:0002153,HP:0008163","MP:0005178,MP:0005559"
+1021,OMIM:614739,"3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome",SERAC1,Serac1<em1(IMPC)Tcp> hom early,27.605,HP:0002540,"MP:0002757,MP:0001402"
+1022,OMIM:614800,"Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly",NBAS,Nbas<tm1b(EUCOMM)Hmgu> het early,42.395,HP:0000648,"MP:0010097,MP:0001325,MP:0002699,MP:0008259,MP:0001289,MP:0002792"
+1023,OMIM:614807,"Myopathy, Centronuclear, 4",CCDC78,Ccdc78<em1(IMPC)J> hom early,22.735,HP:0040081,MP:0000195
+1024,OMIM:614813,"Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis",POC1A,Poc1a<tm1.1(KOMP)Mbp> het early,23.955,HP:0000819,MP:0013278
+1025,OMIM:614813,"Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis",POC1A,Poc1a<tm1.1(KOMP)Mbp> hom early,19.75,HP:0000798,"MP:0001925,MP:0001926"
+1026,OMIM:614815,Joubert Syndrome 18,TCTN3,Tctn3<em1(IMPC)J> hom embryo,52.25,"HP:0006487,HP:0100259,HP:0034044,HP:0001762,HP:0002085,HP:0012385,HP:0001511","MP:0000562,MP:0001697"
+1027,OMIM:614820,Alternating Hemiplegia Of Childhood 2,ATP1A3,Atp1a3<tm1b(EUCOMM)Hmgu> het early,40.49,"HP:0001266,HP:0001268,HP:0001251","MP:0001392,MP:0001415"
+1028,OMIM:614832,"Amelogenesis Imperfecta, Hypomaturation Type, Iia4",ODAPH,Odaph<em1(IMPC)Ccpcz> hom early,52.925,"HP:0006297,HP:0006285,HP:0000705",MP:0002100
+1029,OMIM:614833,"Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures",RTTN,Rttn<em1(IMPC)Tcp> het late,20.62,HP:0001696,MP:0002188
+1030,OMIM:614833,"Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures",RTTN,Rttn<em1(IMPC)Tcp> hom embryo,19.905,"HP:0004322,HP:0003502",MP:0003984
+1031,OMIM:614837,Hypogonadotropic Hypogonadism 8 With Or Without Anosmia,KISS1R,Kiss1r<tm1.1(KOMP)Vlcg> hom early,63.38,"HP:0000054,HP:0000938,HP:0008734,HP:0000027,HP:0000044,HP:0000013,HP:0000786,HP:0000028","MP:0002135,MP:0003558,MP:0001120,MP:0001126,MP:0002631,MP:0002989,MP:0002059,MP:0001925,MP:0001926,MP:0001146,MP:0003795,MP:0006415,MP:0003918,MP:0003642,MP:0004955,MP:0000063,MP:0010124,MP:0003578,MP:0004727"
+1032,OMIM:614840,Hypogonadotropic Hypogonadism 11 With Or Without Anosmia,TACR3,Tacr3<em1(IMPC)J> hom early,36.7,"HP:0000044,HP:0000786",MP:0001926
+1033,OMIM:614841,Hypogonadotropic Hypogonadism 12 With Or Without Anosmia,GNRH1,Gnrh1<em1(IMPC)Bay> hom early,31.61,"HP:0000786,HP:0000044,HP:0008724","MP:0001925,MP:0001926"
+1034,OMIM:614844,Nephronophthisis 14,ZNF423,Zfp423<em1(IMPC)J> het early,29.815,HP:0000546,MP:0001289
+1035,OMIM:614851,Seckel Syndrome 7,NIN,Nin<tm1b(EUCOMM)Hmgu> hom early,12.205,HP:0008551,MP:0004738
+1036,OMIM:614857,"Methylmalonic Aciduria And Homocystinuria, Cblj Type",ABCD4,Abcd4<tm1a(EUCOMM)Hmgu> hom early,23.78,HP:0001254,MP:0001413
+1037,OMIM:614858,Hypogonadotropic Hypogonadism 14 With Or Without Anosmia,WDR11,Wdr11<em1(IMPC)Mbp> hom early,25.27,"HP:0000044,HP:0000786",MP:0001925
+1038,OMIM:614858,Hypogonadotropic Hypogonadism 14 With Or Without Anosmia,WDR11,Wdr11<em1(IMPC)Mbp> hom late,22.985,"HP:0000044,HP:0008734,HP:0000028",MP:0005313
+1039,OMIM:614863,Peroxisome Biogenesis Disorder 4B,PEX6,Pex6<em1(IMPC)Tcp> het early,24.015,"HP:0000648,HP:0000510,HP:0000556",MP:0006243
+1040,OMIM:614872,Peroxisome Biogenesis Disorder 7A (Zellweger),PEX26,Pex26<tm1.1(KOMP)Vlcg> het early,23.71,"HP:0000952,HP:0002240",MP:0000691
+1041,OMIM:614878,"Autoinflammation, Antibody Deficiency, And Immune Dysregulation",PLCG2,Plcg2<Ali14> het early,53.87,"HP:0002720,HP:0030388,HP:0002850","MP:0002875,MP:0002494,MP:0005015,MP:0005505,MP:0002874,MP:0008498,MP:0008211,MP:0000208,MP:0008501,MP:0008499"
+1042,OMIM:614882,Peroxisome Biogenesis Disorder 10A (Zellweger),PEX3,Pex3<tm1a(EUCOMM)Wtsi> hom early,45.395,"HP:0000518,HP:0010655,HP:0002240","MP:0000062,MP:0002833,MP:0001312,MP:0010123,MP:0005542"
+1043,OMIM:614887,Peroxisome Biogenesis Disorder 13A (Zellweger),PEX14,Pex14<em1(IMPC)Bay> hom early,22.12,HP:0003811,MP:0011100
+1044,OMIM:614895,"Charcot-Marie-Tooth Disease, Demyelinating, Type 4F",PRX,Prx<em1(IMPC)Rbrc> hom early,35.22,"HP:0002066,HP:0002505,HP:0003376,HP:0002136,HP:0001288",MP:0001402
+1045,OMIM:614898,"Spastic Paraplegia 53, Autosomal Recessive",VPS37A,Vps37a<em1(IMPC)Tcp> het early,22.185,HP:0000998,MP:0000367
+1046,OMIM:614899,"Deafness, Autosomal Recessive 93",CABP2,Cabp2<em1(IMPC)J> hom early,38.85,HP:0000365,MP:0004738
+1047,OMIM:614926,Perrault Syndrome 2,HARS2,Hars2<em1(IMPC)J> het early,24.355,HP:0000407,MP:0004738
+1048,OMIM:614932,Combined Oxidative Phosphorylation Deficiency 13,PNPT1,Pnpt1<tm1a(KOMP)Wtsi> het early,29.125,HP:0001266,MP:0001406
+1049,OMIM:614944,"Deafness, Autosomal Recessive 84B",OTOGL,Otogl<em1(IMPC)J> hom early,34.335,HP:0000407,MP:0004738
+1050,OMIM:614945,"Deafness, Autosomal Recessive 18B",OTOG,Otog<em1(IMPC)J> hom early,31.155,HP:0000407,MP:0004738
+1051,OMIM:614946,Combined Oxidative Phosphorylation Deficiency 14,FARS2,Fars2<em1(IMPC)J> het early,14.46,HP:0012465,MP:0005343
+1052,OMIM:614959,Developmental And Epileptic Encephalopathy 14,KCNT1,Kcnt1<em1(IMPC)Mbp> hom early,28.365,HP:0006915,MP:0001402
+1053,OMIM:614962,Leptin Deficiency Or Dysfunction,LEP,Lep<tm1b(EUCOMM)Hmgu> hom early,33.55,"HP:0002591,HP:0000786,HP:0000135","MP:0001925,MP:0001926,MP:0001363"
+1054,OMIM:614963,Leptin Receptor Deficiency,LEPR,Lepr<tm1b(EUCOMM)Wtsi> hom early,35.775,"HP:0000718,HP:0000819,HP:0001513,HP:0002591,HP:0100738,HP:0000815,HP:0000824,HP:0000712,HP:0008245","MP:0001157,MP:0003961,MP:0005559,MP:0001417,MP:0001925,MP:0001926,MP:0001363"
+1055,OMIM:614969,"Pontocerebellar Hypoplasia, Type 7",TOE1,Toe1<tm1.1(KOMP)Vlcg> het early,24.95,"HP:0001266,HP:0000054,HP:0002179","MP:0011436,MP:0001513"
+1056,OMIM:614972,"Cholestasis, Intrahepatic, Of Pregnancy 3",ABCB4,Abcb4<em1(IMPC)H> hom early,37.64,"HP:0200150,HP:0000952,HP:0001406","MP:0002941,MP:0005627,MP:0004952,MP:0005344,MP:0002968,MP:0005553,MP:0005343,MP:0000186"
+1057,OMIM:615005,"Epilepsy, Nocturnal Frontal Lobe, 5",KCNT1,Kcnt1<em1(IMPC)Mbp> hom early,44.905,"HP:0000718,HP:0000716","MP:0001364,MP:0020870"
+1058,OMIM:615008,"Nephrotic Syndrome, Type 7",DGKE,Dgke<em1(IMPC)Tcp> hom early,23.28,HP:0003073,MP:0005554
+1059,OMIM:615009,Schuurs-Hoeijmakers Syndrome,PACS1,Pacs1<em1(IMPC)Hmgu> het early,32.95,HP:0000028,MP:0002059
+1060,OMIM:615010,Aicardi-Goutieres Syndrome 6,ADAR,Adar<tm1b(EUCOMM)Wtsi> hom embryo,22.105,HP:0001511,MP:0001697
+1061,OMIM:615011,Phosphohydroxylysinuria,PHYKPL,Phykpl<tm1a(EUCOMM)Wtsi> hom early,31.195,"HP:0031870,HP:6000806",MP:0005554
+1062,OMIM:615030,"Spastic Paraplegia 56, Autosomal Recessive, With Or Without Pseudoxanthoma Elasticum",CYP2U1,Cyp2u1<tm1b(EUCOMM)Wtsi> hom early,36.49,HP:0001332,MP:0001513
+1063,OMIM:615031,"Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay",TECPR2,Tecpr2<em1(IMPC)J> hom early,26.505,"HP:0002066,HP:0001310,HP:0002064",MP:0002574
+1064,OMIM:615031,"Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay",TECPR2,Tecpr2<em1(IMPC)J> hom late,15.01,HP:0000294,MP:0002098
+1065,OMIM:615041,"Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10",RXYLT1,Rxylt1<em1(IMPC)J> het early,47.53,HP:0007973,MP:0010097
+1066,OMIM:615042,"Congenital Disorder Of Glycosylation, Type Iu",DPM2,Dpm2<tm1b(EUCOMM)Hmgu> het early,31.48,HP:0003236,MP:0005568
+1067,OMIM:615048,"Spinal Muscular Atrophy, Jokela Type",CHCHD10,Chchd10<em1(IMPC)Mbp> hom early,25.1,HP:0003236,MP:0001566
+1068,OMIM:615048,"Spinal Muscular Atrophy, Jokela Type",CHCHD10,Chchd10<em1(IMPC)H> hom early,31.135,HP:0003236,"MP:0005627,MP:0005565,MP:0005553"
+1069,OMIM:615066,"Osteogenesis Imperfecta, Type Xiv",TMEM38B,Tmem38b<em1(IMPC)Mbp> het embryo,19.21,HP:0004322,MP:0003984
+1070,OMIM:615066,"Osteogenesis Imperfecta, Type Xiv",TMEM38B,Tmem38b<em1(IMPC)Mbp> hom embryo,18.905,HP:0004322,MP:0003984
+1071,OMIM:615072,"Brachydactyly, Type A1, C",GDF5,Gdf5<em1(IMPC)H> hom early,44.475,"HP:0009882,HP:0003038,HP:0004220,HP:0001776,HP:0009439,HP:0009577,HP:0010034,HP:0001156,HP:0009295","MP:0000550,MP:0000572,MP:0000556,MP:0002110"
+1072,OMIM:615081,Spermatogenic Failure 11,KLHL10,Klhl10<tm1b(KOMP)Wtsi> hom early,78.755,"HP:0012207,HP:0012864,HP:0000798,HP:0003251",MP:0001925
+1073,OMIM:615113,"Microphthalmia, Isolated 8",ALDH1A3,Aldh1a3<tm1b(KOMP)Wtsi> hom embryo,55.275,"HP:0000568,HP:0000528,HP:0000609,HP:0011478",MP:0001297
+1074,OMIM:615119,"Mitochondrial Complex Iv Deficiency, Nuclear Type 6",COX15,Cox15<tm1.1(KOMP)Vlcg> het early,30.365,"HP:0001638,HP:0001639","MP:0002833,MP:0008725,MP:0000266"
+1075,OMIM:615122,Lymphoproliferative Syndrome 2,CD27,Cd27<em1(IMPC)Ccpcz> hom early,37.575,"HP:0001915,HP:0001433,HP:0001876,HP:0012156,HP:0002716,HP:0002240,HP:0001744","MP:0000274,MP:0010169,MP:0000689"
+1076,OMIM:615127,"Epilepsy, Familial Adult Myoclonic, 4",YEATS2,Yeats2<em1(IMPC)J> het late,41.24,HP:0001337,"MP:0001513,MP:0001523"
+1077,OMIM:615147,"Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome",RBP4,Rbp4<tm1.1(KOMP)Vlcg> hom early,33.34,"HP:0000612,HP:0200070",MP:0001289
+1078,OMIM:615155,Steel Syndrome,COL27A1,Col27a1<em1(IMPC)Mbp> het early,21.005,"HP:0001377,HP:0009702",MP:0000062
+1079,OMIM:615155,Steel Syndrome,COL27A1,Col27a1<em1(IMPC)Mbp> hom embryo,19.315,HP:0004322,MP:0003984
+1080,OMIM:615182,Combined D-2- And L-2-Hydroxyglutaric Aciduria,SLC25A1,Slc25a1<tm1b(EUCOMM)Wtsi> het early,31.485,HP:0000737,MP:0001415
+1081,OMIM:615182,Combined D-2- And L-2-Hydroxyglutaric Aciduria,SLC25A1,Slc25a1<tm1b(EUCOMM)Wtsi> hom embryo,30.135,"HP:0001321,HP:0000252","MP:0000841,MP:0011496"
+1082,OMIM:615198,Osteosclerotic Metaphyseal Dysplasia,LRRK1,Lrrk1<tm1b(KOMP)Wtsi> hom early,66.945,"HP:0011001,HP:0100255,HP:0004576,HP:0100923,HP:0100959,HP:0001508","MP:0002764,MP:0000558,MP:0003961,MP:0000559,MP:0000062,MP:0005298,MP:0010123,MP:0004509,MP:0005108,MP:0000552,MP:0000150,MP:0002187,MP:0000137,MP:0005296"
+1083,OMIM:615206,Immunodeficiency 11A,CARD11,Card11<em1(IMPC)Ccpcz> hom early,54.715,"HP:0020113,HP:0012312","MP:0013763,MP:0013771,MP:0004953,MP:0000692,MP:0000703,MP:0005015,MP:0008078,MP:0008074,MP:0000218,MP:0000689,MP:0005013,MP:0010169,MP:0010851,MP:0013436,MP:0000709"
+1084,OMIM:615219,"Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies",MPDZ,Mpdz<em1(IMPC)J> hom early,31.52,"HP:0001631,HP:0001104,HP:0000358,HP:0030718,HP:0000407,HP:0000648,HP:0000567","MP:0010097,MP:0001325,MP:0002833,MP:0004738,MP:0002792"
+1085,OMIM:615234,"Anemia, Hypochromic Microcytic, With Iron Overload 2",STEAP3,Steap3<tm1b(EUCOMM)Hmgu> het early,45.6,"HP:0025066,HP:0001903,HP:0004447,HP:0032231,HP:0001924,HP:0001744","MP:0002874,MP:0000208"
+1086,OMIM:615234,"Anemia, Hypochromic Microcytic, With Iron Overload 2",STEAP3,Steap3<tm1b(EUCOMM)Hmgu> hom early,49.135,"HP:0025066,HP:0001903,HP:0004447,HP:0032231,HP:0001924,HP:0001744","MP:0002591,MP:0002874,MP:0005505,MP:0005562,MP:0003131,MP:0005642,MP:0000208"
+1087,OMIM:615235,"Cardiomyopathy, Dilated, 1Jj",LAMA4,Lama4<tm1.1(KOMP)Vlcg> hom early,24.905,HP:0001644,MP:0002833
+1088,OMIM:615238,"Lipodystrophy, Familial Partial, Type 5",CIDEC,Cidec<tm1b(EUCOMM)Wtsi> hom early,43.625,"HP:0002155,HP:0001953,HP:0030796,HP:0009125","MP:0013279,MP:0005178,MP:0002966,MP:0010025"
+1089,OMIM:615249,"Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12",POMK,Pomk<em1(IMPC)Hmgu> het early,19.16,HP:0001371,MP:0000062
+1090,OMIM:615284,"Charcot-Marie-Tooth Disease, Demyelinating, Type 4B3",SBF1,Sbf1<em1(IMPC)Mbp> hom early,18.01,HP:0000020,"MP:0003068,MP:0002135,MP:0009552"
+1091,OMIM:615298,"Symphalangism, Proximal, 1B",GDF5,Gdf5<em1(IMPC)H> hom early,58.705,"HP:0009177,HP:0006143,HP:0009536,HP:0004209","MP:0000556,MP:0000572,MP:0000062,MP:0002110,MP:0000550"
+1092,OMIM:615343,"Pulmonary Hypertension, Primary, 3",CAV1,Cav1<em2(IMPC)Ics> hom early,19.77,"HP:0002092,HP:0004890,HP:0005317","MP:0002626,MP:0005140"
+1093,OMIM:615355,Noonan Syndrome 8,RIT1,Rit1<em1(IMPC)Mbp> hom early,13.795,HP:0001712,MP:0003068
+1094,OMIM:615356,"Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18",TRAPPC11,Trappc11<em1(IMPC)J> het early,25.525,HP:0002353,MP:0004738
+1095,OMIM:615361,"Hypocalcemia, Autosomal Dominant 2",GNA11,Gna11<tm1a(EUCOMM)Wtsi> hom early,56.11,"HP:0100529,HP:0002901","MP:0002941,MP:0000194,MP:0000198,MP:0008805"
+1096,OMIM:615368,Lethal Congenital Contracture Syndrome 5,DNM2,Dnm2<tm1.1(KOMP)Vlcg> het early,35.275,"HP:0000762,HP:0003236","MP:0002968,MP:0001102"
+1097,OMIM:615396,Left Ventricular Noncompaction 10,MYBPC3,Mybpc3<tm1a(EUCOMM)Hmgu> hom early,30.5,"HP:0030682,HP:0001644","MP:0002833,MP:0000266"
+1098,OMIM:615396,Left Ventricular Noncompaction 10,MYBPC3,Mybpc3<tm1b(EUCOMM)Hmgu> hom early,42.055,"HP:0001635,HP:0001279,HP:0033755,HP:0001644,HP:0002092","MP:0010392,MP:0010511,MP:0003233"
+1099,OMIM:615401,Immunodeficiency 8 With Lymphoproliferation,CORO1A,Coro1a<tm1.1(KOMP)Vlcg> hom early,49.785,HP:0007018,MP:0001399
+1100,OMIM:615411,"Cortical Dysplasia, Complex, With Other Brain Malformations 3",KIF2A,Kif2a<em1(IMPC)Mbp> hom embryo,43.865,HP:0001511,MP:0003984
+1101,OMIM:615418,"Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive",SLC25A4,Slc25a4<tm1a(EUCOMM)Wtsi> hom early,41.65,"HP:0001712,HP:0001639,HP:0001771,HP:0003236,HP:0003348","MP:0003020,MP:0004613,MP:0000194,MP:0002833,MP:0002968,MP:0005565"
+1102,OMIM:615434,Retinitis Pigmentosa 82 With Or Without Situs Inversus,ARL2BP,Arl2bp<em1(IMPC)J> hom early,45.745,"HP:0000510,HP:0000543,HP:0007401",MP:0008259
+1103,OMIM:615458,"Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus",ADAMTS18,Adamts18<tm1.1(KOMP)Vlcg> hom early,42.06,"HP:0007787,HP:0000482",MP:0001304
+1104,OMIM:615465,Hartsfield Syndrome,FGFR1,Fgfr1<tm1.1(KOMP)Vlcg> hom embryo,15.7,HP:0001510,MP:0003984
+1105,OMIM:615473,Developmental And Epileptic Encephalopathy 17,GNAO1,Gnao1<tm1b(EUCOMM)Hmgu> het early,30.605,"HP:0001332,HP:0002072,HP:0002305",MP:0001523
+1106,OMIM:615476,Developmental And Epileptic Encephalopathy 18,SZT2,Szt2<em1(IMPC)Bay> hom embryo,35.09,"HP:0001562,HP:0001659,HP:0001561","MP:0001914,MP:0001785"
+1107,OMIM:615491,"Spastic Paraplegia 79B, Autosomal Recessive",UCHL1,Uchl1<tm1b(EUCOMM)Hmgu> het early,27.625,"HP:0002599,HP:0002080,HP:0002174",MP:0001488
+1108,OMIM:615491,"Spastic Paraplegia 79B, Autosomal Recessive",UCHL1,Uchl1<tm1b(EUCOMM)Hmgu> het late,19.54,HP:0001371,"MP:0010025,MP:0000063"
+1109,OMIM:615503,Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly,DYNC2I1,Dync2i1<em1(IMPC)Tcp> hom embryo,22.885,"HP:0001629,HP:0004322","MP:0003984,MP:0000266"
+1110,OMIM:615510,"Alacrima, Achalasia, And Impaired Intellectual Development Syndrome",GMPPA,Gmppa<em1(IMPC)Tcp> hom early,26.09,"HP:0009916,HP:0002015,HP:0001251","MP:0002574,MP:0001399,MP:0001314"
+1111,OMIM:615522,Cole Disease,ENPP1,Enpp1<em1(IMPC)Ccpcz> hom early,39.07,"HP:0003074,HP:0001595,HP:0100529","MP:0013279,MP:0000627,MP:0002968"
+1112,OMIM:615524,"Microphthalmia, Syndromic 12",RARB,Rarb<em1(IMPC)Kmpc> hom early,19.945,HP:0000776,MP:0010025
+1113,OMIM:615530,"Parkinson Disease 20, Early-Onset",SYNJ1,Synj1<tm1b(EUCOMM)Wtsi> het early,44.05,"HP:0002067,HP:0001337,HP:0002063,HP:0004305,HP:0000658,HP:0001300,HP:0001332",MP:0000745
+1114,OMIM:615541,"Intellectual Developmental Disorder, Autosomal Recessive 39",TTI2,Tti2<tm1b(KOMP)Wtsi> het early,29.09,"HP:0000718,HP:0000752",MP:0001417
+1115,OMIM:615547,Schaaf-Yang Syndrome,MAGEL2,Magel2<em2(IMPC)H> hom early,28.4,HP:0002540,MP:0001392
+1116,OMIM:615574,Asparagine Synthetase Deficiency,ASNS,Asns<tm1a(EUCOMM)Wtsi> hom early,17.61,HP:0000609,MP:0005103
+1117,OMIM:615575,"Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6",FBXO38,Fbxo38<em2(IMPC)Marc> hom early,31.915,HP:0001288,MP:0001402
+1118,OMIM:615578,Combined Oxidative Phosphorylation Deficiency 18,SFXN4,Sfxn4<tm1b(KOMP)Wtsi> hom early,27.8,"HP:0004821,HP:0001972",MP:0000221
+1119,OMIM:615583,Verheij Syndrome,PUF60,Puf60<em1(IMPC)Bay> het early,20.115,HP:0000609,MP:0003731
+1120,OMIM:615597,"Congenital Disorder Of Glycosylation, Type Ix",STT3B,Stt3b<em1(IMPC)J> het early,22.515,HP:0001873,MP:0005562
+1121,OMIM:615597,"Congenital Disorder Of Glycosylation, Type Ix",STT3B,Stt3b<em1(IMPC)J> hom embryo,34.48,HP:0001511,MP:0003984
+1122,OMIM:615604,L-Ferritin Deficiency,FTL,Ftl1<em1(IMPC)Rbrc> hom late,30.16,HP:0012343,MP:0004152
+1123,OMIM:615605,Fanconi Renotubular Syndrome 3,EHHADH,Ehhadh<tm1b(KOMP)Wtsi> hom early,19.185,HP:0003259,MP:0005627
+1124,OMIM:615630,Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly,IFT172,Ift172<tm2b(EUCOMM)Hmgu> het early,37.945,"HP:0000546,HP:0003026,HP:0010230,HP:0002857,HP:0001156,HP:0001162","MP:0010097,MP:0002110"
+1125,OMIM:615630,Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly,IFT172,Ift172<tm2b(EUCOMM)Hmgu> hom embryo,27.08,"HP:0000238,HP:0001629,HP:0004322","MP:0000288,MP:0003984,MP:0003720,MP:0000266"
+1126,OMIM:615637,"Intellectual Developmental Disorder, Autosomal Recessive 41",KPTN,Kptn<tm1a(EUCOMM)Wtsi> hom early,13.835,HP:0001744,MP:0002874
+1127,OMIM:615673,Myopathy With Extrapyramidal Signs,MICU1,Micu1<tm1bNarl> het early,27.1,"HP:0001974,HP:0001744","MP:0000223,MP:0008935,MP:0005562"
+1128,OMIM:615673,Myopathy With Extrapyramidal Signs,MICU1,Micu1<tm1bNarl> hom early,38.425,"HP:0001266,HP:0001251,HP:0001288","MP:0001406,MP:0001392"
+1129,OMIM:615683,"Spastic Paraplegia 64, Autosomal Recessive",ENTPD1,Entpd1<tm1a(EUCOMM)Wtsi> hom early,28.96,"HP:0001258,HP:0001257",MP:0000745
+1130,OMIM:615685,"Spastic Paraplegia 61, Autosomal Recessive",ARL6IP1,Arl6ip1<tm1b(EUCOMM)Hmgu> hom early,62.16,"HP:0012407,HP:0002540",MP:0001406
+1131,OMIM:615703,Morbid Obesity And Spermatogenic Failure,CEP19,Cep19<tm1b(EUCOMM)Hmgu> hom early,50.58,"HP:0003124,HP:0001513,HP:0000789,HP:0000027,HP:0002155,HP:0000855,HP:0005978,HP:0003141,HP:0003233,HP:0000798","MP:0005419,MP:0003961,MP:0002966,MP:0001925,MP:0001926,MP:0005567,MP:0005292"
+1132,OMIM:615710,Mitchell-Riley Syndrome,RFX6,Rfx6<tm1.1(KOMP)Vlcg> het early,35.32,"HP:0003074,HP:0000819",MP:0005293
+1133,OMIM:615722,Bosch-Boonstra-Schaaf Optic Atrophy Syndrome,NR2F1,Nr2f1<tm1.1(KOMP)Mbp> het early,26.525,"HP:0000395,HP:0011261,HP:0009909,HP:0000543,HP:0000411,HP:0000648","MP:0001289,MP:0004738"
+1134,OMIM:615723,Premature Ovarian Failure 8,STAG3,Stag3<tm1e.1(KOMP)Wtsi> hom early,40.34,"HP:0011969,HP:0100615,HP:0008209,HP:0010464,HP:0008214,HP:0000786,HP:0008232","MP:0001147,MP:0001926,MP:0001925"
+1135,OMIM:615761,"Intellectual Developmental Disorder, Autosomal Dominant 23",SETD5,Setd5<tm1a(EUCOMM)Wtsi> het early,43.785,"HP:0000219,HP:0000294,HP:0000664,HP:0002714,HP:0000319,HP:0000678,HP:0000960,HP:0000343,HP:0000431,HP:0000369,HP:0000347,HP:0002808,HP:0002650,HP:0003307","MP:0000443,MP:0002075,MP:0002100,MP:0004609,MP:0004738,MP:0000455,MP:0005358"
+1136,OMIM:615777,Desbuquois Dysplasia 2,XYLT1,Xylt1<em1(IMPC)J> het early,18.385,HP:0000664,MP:0002075
+1137,OMIM:615777,Desbuquois Dysplasia 2,XYLT1,Xylt1<em1(IMPC)J> hom embryo,16.61,"HP:0001863,HP:0010049,HP:0033102,HP:0012725,HP:0001840,HP:0003016,HP:0009803,HP:6000816,HP:0004233,HP:0002673,HP:0011304,HP:0002970",MP:0002109
+1138,OMIM:615789,"Rothmund-Thomson Syndrome, Type 3",CRIPT,Cript<tm1.1(KOMP)Vlcg> het early,31.215,"HP:0004823,HP:0001903",MP:0005562
+1139,OMIM:615812,Abdominal Obesity-Metabolic Syndrome 3,DYRK1B,Dyrk1b<tm1b(EUCOMM)Wtsi> het late,19.46,"HP:0002155,HP:0003124,HP:0003141",MP:0005568
+1140,OMIM:615817,"Intellectual Developmental Disorder, Autosomal Recessive 43",WASHC4,Washc4<em1(IMPC)J> het early,32.555,HP:0100716,MP:0001399
+1141,OMIM:615821,"Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis",DSP,Dsp<em1(IMPC)Mbp> hom embryo,21.705,HP:0001644,MP:0000266
+1142,OMIM:615829,Xia-Gibbs Syndrome,AHDC1,Ahdc1<em1Xgs> het early,15.585,HP:0001508,MP:0003961
+1143,OMIM:615834,"Intellectual Developmental Disorder, Autosomal Dominant 26",AUTS2,Auts2<em1(IMPC)Wtsi> het early,18.17,HP:0001518,MP:0003960
+1144,OMIM:615846,Aicardi-Goutieres Syndrome 7,IFIH1,Ifih1<em1(IMPC)Wtsi> hom early,16.18,HP:0003281,MP:0010092
+1145,OMIM:615851,"Pontocerebellar Hypoplasia, Type 2E",VPS53,Vps53<tm1a(KOMP)Wtsi> het early,28.29,HP:0002650,MP:0004599
+1146,OMIM:615871,Developmental And Epileptic Encephalopathy 24,HCN1,Hcn1<em1(IMPC)H> hom early,37.46,"HP:0001251,HP:0007018","MP:0000745,MP:0001406,MP:0001402,MP:0001417,MP:0001392"
+1147,OMIM:615877,Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome,MAB21L2,Mab21l2<em1(IMPC)Mbp> het early,46.9,"HP:0000568,HP:0000528",MP:0001293
+1148,OMIM:615877,Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome,MAB21L2,Mab21l2<em1(IMPC)Mbp> het embryo,41.38,"HP:0000568,HP:0000528,HP:0008905","MP:0001297,MP:0003984"
+1149,OMIM:615879,Tatton-Brown-Rahman Syndrome,DNMT3A,Dnmt3a<tm1b(KOMP)Wtsi> het early,33.795,"HP:0004442,HP:0001537,HP:0002373,HP:0001250","MP:0003795,MP:0000947,MP:0010024"
+1150,OMIM:615879,Tatton-Brown-Rahman Syndrome,DNMT3A,Dnmt3a<tm1b(KOMP)Wtsi> hom embryo,12.85,HP:0001537,MP:0001697
+1151,OMIM:615889,"Leukoencephalopathy, Progressive, With Ovarian Failure",AARS2,Aars2<tm1(KOMP)Wtsi> het early,26.425,"HP:0002378,HP:0001332",MP:0006243
+1152,OMIM:615896,Hypotrichosis 13,KRT71,Krt71<em1(IMPC)Bay> hom early,51.61,"HP:0000653,HP:0000971,HP:0008070,HP:0002224","MP:0001510,MP:0000367,MP:0002075"
+1153,OMIM:615917,Combined Oxidative Phosphorylation Deficiency 20,VARS2,Vars2<em1(IMPC)Bay> het early,20.98,HP:0001639,MP:0003394
+1154,OMIM:615918,Combined Oxidative Phosphorylation Deficiency 21,TARS2,Tars2<tm1b(EUCOMM)Hmgu> hom early,26.95,HP:0003811,MP:0011100
+1155,OMIM:615918,Combined Oxidative Phosphorylation Deficiency 21,TARS2,Tars2<tm1b(EUCOMM)Hmgu> hom embryo,26.15,HP:0003811,"MP:0013292,MP:0013293"
+1156,OMIM:615923,"Epiphyseal Chondrodysplasia, Miura Type",NPR2,Npr2<em1(IMPC)H> hom early,33.845,"HP:0005769,HP:0031424,HP:0010055,HP:0001166,HP:0001847","MP:0000550,MP:0002966,MP:0000556"
+1157,OMIM:615924,"Encephalopathy, Progressive, With Or Without Lipodystrophy",BSCL2,Bscl2<tm1b(EUCOMM)Hmgu> hom early,42.695,"HP:0002155,HP:0001251,HP:0000752","MP:0001406,MP:0002965,MP:0000194,MP:0002941,MP:0001402,MP:0005568,MP:0001566,MP:0005178,MP:0002968,MP:0011941,MP:0011939,MP:0001556,MP:0005343"
+1158,OMIM:615948,Orofaciodigital Syndrome Xiv,C2CD3,C2cd3<em1(IMPC)Tcp> het early,18.69,"HP:0000054,HP:0000039,HP:0012583,HP:0000028","MP:0011874,MP:0001120"
+1159,OMIM:615948,Orofaciodigital Syndrome Xiv,C2CD3,C2cd3<em1(IMPC)Tcp> hom embryo,12.045,HP:0002085,"MP:0003984,MP:0001697"
+1160,OMIM:615957,Spinocerebellar Ataxia 38,ELOVL5,Elovl5<em1(IMPC)Tcp> hom early,33.22,"HP:0002070,HP:0001251,HP:0001337,HP:0002066","MP:0002757,MP:0001402,MP:0006243"
+1161,OMIM:615960,Poretti-Boltshauser Syndrome,LAMA1,Lama1<tm2b(EUCOMM)Hmgu> het early,46.18,"HP:0001105,HP:0030329,HP:0000556","MP:0001289,MP:0002792,MP:0010097,MP:0001325"
+1162,OMIM:615961,Acid-Labile Subunit Deficiency,IGFALS,Igfals<tm1b(KOMP)Wtsi> hom early,32.01,HP:0045046,MP:0005178
+1163,OMIM:615966,Immunodeficiency 26 With Or Without Neurologic Abnormalities,PRKDC,Prkdc<em2(IMPC)Ics> hom early,45.375,"HP:0005403,HP:0010976,HP:0012176","MP:0005011,MP:0000220,MP:0005642,MP:0005016,MP:0000221,MP:0000219"
+1164,OMIM:615980,"Lipodystrophy, Familial Partial, Type 6",LIPE,Lipe<tm1b(KOMP)Wtsi> hom early,28.22,"HP:0000855,HP:0000819",MP:0002079
+1165,OMIM:615981,Bardet-Biedl Syndrome 2,BBS2,Bbs2<em2(IMPC)Wtsi> het early,14.88,HP:0001513,MP:0003961
+1166,OMIM:615983,Bardet-Biedl Syndrome 5,BBS5,Bbs5<tm1b(EUCOMM)Wtsi> hom early,38.13,"HP:0100259,HP:0007754,HP:0001159,HP:0001513,HP:0007401,HP:0007843,HP:0000543,HP:0007737,HP:0004209,HP:0000510,HP:0001156","MP:0003961,MP:0002764,MP:0001325"
+1167,OMIM:615989,Bardet-Biedl Syndrome 12,BBS12,Bbs12<em1(IMPC)Ccpcz> het early,14.975,HP:0031500,MP:0000691
+1168,OMIM:616026,Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young,HNF4A,Hnf4a<tm1b(EUCOMM)Hmgu> het early,26.995,"HP:0002148,HP:0003537","MP:0005178,MP:0001556,MP:0005344"
+1169,OMIM:616026,Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young,HNF4A,Hnf4a<tm1b(EUCOMM)Hmgu> het late,39.085,"HP:0002148,HP:0000819,HP:0003355,HP:0003537","MP:0005355,MP:0005178,MP:0000194,MP:0005554"
+1170,OMIM:616026,Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young,HNF4A,Hnf4a<tm1b(EUCOMM)Hmgu> het middle,23.28,HP:0001520,MP:0001262
+1171,OMIM:616029,Ectodermal Dysplasia/Short Stature Syndrome,GRHL2,Grhl2<em1(IMPC)Mbp> het early,21.8,HP:0002015,MP:0020421
+1172,OMIM:616029,Ectodermal Dysplasia/Short Stature Syndrome,GRHL2,Grhl2<em1(IMPC)Mbp> hom embryo,18.975,"HP:0004322,HP:0000982","MP:0003984,MP:0000564"
+1173,OMIM:616033,"Microcephaly, Short Stature, And Impaired Glucose Metabolism 1",TRMT10A,Trmt10a<tm1a(EUCOMM)Wtsi> hom early,41.03,"HP:0000939,HP:0001382","MP:0010123,MP:0000062"
+1174,OMIM:616034,"2,4-Dienoyl-Coa Reductase Deficiency",NADK2,Nadk2<em1(IMPC)J> het early,21.5,HP:0000648,MP:0001289
+1175,OMIM:616042,"Deafness, Autosomal Recessive 103",CLIC5,Clic5<tm1b(EUCOMM)Hmgu> hom early,37.78,HP:0008568,MP:0001489
+1176,OMIM:616045,Combined Oxidative Phosphorylation Deficiency 22,ATP5F1A,Atp5f1a<tm1a(EUCOMM)Wtsi> het early,35.085,HP:0001508,MP:0001262
+1177,OMIM:616056,Developmental And Epileptic Encephalopathy 26,KCNB1,Kcnb1<tm1b(EUCOMM)Hmgu> hom early,28.205,HP:0012171,MP:0001399
+1178,OMIM:616084,"Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay",TRNT1,Trnt1<tm1a(EUCOMM)Hmgu> het early,35.955,"HP:0010976,HP:0001744,HP:0001981,HP:0000510,HP:0001924,HP:0004840","MP:0005103,MP:0002591"
+1179,OMIM:616111,"Mitochondrial Complex Iii Deficiency, Nuclear Type 9",UQCC3,Uqcc3<em1(IMPC)Bay> hom embryo,21.52,HP:0008897,MP:0003984
+1180,OMIM:616113,Polyendocrine-Polyneuropathy Syndrome,DMXL2,Dmxl2<tm1a(EUCOMM)Wtsi> het early,14.82,HP:0040217,MP:0005179
+1181,OMIM:616118,"Macular Degeneration, Early-Onset",FBN2,Fbn2<em1(IMPC)Rbrc> hom early,28.795,"HP:0000608,HP:0011506",MP:0008259
+1182,OMIM:616139,Developmental And Epileptic Encephalopathy 27,GRIN2B,Grin2b<tm1e.1(KOMP)Wtsi> het early,30.37,HP:0001332,MP:0001488
+1183,OMIM:616145,Catel-Manzke Syndrome,TGDS,Tgds<em1(IMPC)Mbp> het early,30.495,HP:0000028,"MP:0001146,MP:0001148"
+1184,OMIM:616145,Catel-Manzke Syndrome,TGDS,Tgds<em1(IMPC)Mbp> het embryo,16.835,HP:0001537,MP:0001711
+1185,OMIM:616145,Catel-Manzke Syndrome,TGDS,Tgds<em1(IMPC)Mbp> hom embryo,25.775,"HP:0002623,HP:0001651,HP:0001629,HP:0001537","MP:0002151,MP:0001691,MP:0001700,MP:0000269,MP:0000266"
+1186,OMIM:616165,Nemaline Myopathy 10,LMOD3,Lmod3<em1(IMPC)Mbp> hom early,35.915,"HP:0001371,HP:0003202,HP:0012548,HP:0002803,HP:0010628,HP:0003798","MP:0000759,MP:0000063,MP:0010024,MP:0010025"
+1187,OMIM:616170,Macular Dystrophy With Central Cone Involvement,MFSD8,Mfsd8<tm1b(EUCOMM)Hmgu> hom early,45.25,"HP:0000543,HP:0011504,HP:0007754,HP:0030629","MP:0002792,MP:0006243,MP:0001325"
+1188,OMIM:616209,"Myopathy, Isolated Mitochondrial, Autosomal Dominant",CHCHD10,Chchd10<em1(IMPC)Mbp> hom early,25.81,HP:0003236,MP:0001566
+1189,OMIM:616209,"Myopathy, Isolated Mitochondrial, Autosomal Dominant",CHCHD10,Chchd10<em1(IMPC)H> hom early,32.14,HP:0003236,"MP:0005627,MP:0005565,MP:0005553"
+1190,OMIM:616216,Thrombocytopenia 5,ETV6,Etv6<em1(IMPC)Rbrc> het early,51.17,"HP:0005518,HP:0001903,HP:0004812,HP:0001875,HP:0001873","MP:0002875,MP:0003179,MP:0012362"
+1191,OMIM:616216,Thrombocytopenia 5,ETV6,Etv6<em1(IMPC)Rbrc> het late,15.69,"HP:0005518,HP:0001903,HP:0004812,HP:0001875,HP:0001873",MP:0004952
+1192,OMIM:616221,"Amelogenesis Imperfecta, Type Ih",ITGB6,Itgb6<em1(IMPC)Ccpcz> hom early,63.05,"HP:0000705,HP:0009722,HP:0009102,HP:0006297,HP:0006286","MP:0013129,MP:0002100"
+1193,OMIM:616224,"Myasthenic Syndrome, Congenital, 22",PREPL,Prepl<em1(IMPC)H> hom early,39.66,HP:0002515,MP:0001406
+1194,OMIM:616228,"Myasthenic Syndrome, Congenital, 14",ALG2,Alg2<tm1.1(KOMP)Vlcg> het early,20.185,HP:0003691,MP:0002110
+1195,OMIM:616231,"Myopathy, Vacuolar, With Casq1 Aggregates",CASQ1,Casq1<tm1b(EUCOMM)Wtsi> hom early,47.125,HP:0003236,"MP:0005568,MP:0005554"
+1196,OMIM:616266,"Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay",NALCN,Nalcn<em1(IMPC)Mbp> het embryo,13.995,HP:0001537,MP:0003054
+1197,OMIM:616266,"Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay",NALCN,Nalcn<em1(IMPC)Mbp> hom embryo,13.995,HP:0001537,MP:0003054
+1198,OMIM:616278,"Bile Acid Synthesis Defect, Congenital, 5",ABCD3,Abcd3<em1(IMPC)J> hom early,32.09,"HP:0025196,HP:0012202,HP:0002904","MP:0000194,MP:0002968,MP:0005568"
+1199,OMIM:616278,"Bile Acid Synthesis Defect, Congenital, 5",ABCD3,Abcd3<em1(IMPC)J> hom late,29.935,"HP:0025196,HP:0012202,HP:0002904","MP:0000194,MP:0002968"
+1200,OMIM:616280,"Charcot-Marie-Tooth Disease, Axonal, Type 2U",MARS1,Mars1<em1(IMPC)Bay> het early,48.205,"HP:0003376,HP:0001288",MP:0001392
+1201,OMIM:616294,Cole-Carpenter Syndrome 2,SEC24D,Sec24d<em1(IMPC)Rbrc> het early,14.74,HP:0000218,MP:0000470
+1202,OMIM:616295,"Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads",CAST,Cast<tm1.1(KOMP)Vlcg> hom early,29.56,"HP:0001820,HP:0007530","MP:0000579,MP:0002110"
+1203,OMIM:616313,"Myasthenic Syndrome, Congenital, 2A, Slow-Channel",CHRNB1,Chrnb1<em1(IMPC)Bay> hom embryo,35.445,HP:0000218,MP:0000111
+1204,OMIM:616329,"Maturity-Onset Diabetes Of The Young, Type 13",KCNJ11,Kcnj11<tm1b(EUCOMM)Wtsi> hom early,58.4,"HP:0003074,HP:0004904,HP:0040217,HP:0000819","MP:0002874,MP:0013278,MP:0005293"
+1205,OMIM:616339,Developmental And Epileptic Encephalopathy 29,AARS1,Aars1<em1(IMPC)Bay> het early,16.43,HP:0001508,MP:0003960
+1206,OMIM:616354,"Spinocerebellar Ataxia, Autosomal Recessive 20",SNX14,Snx14<em1(IMPC)H> het early,13.33,HP:0001744,MP:0002599
+1207,OMIM:616368,Chops Syndrome,AFF4,Aff4<em1(IMPC)Mbp> het early,26.395,"HP:0000076,HP:0004602,HP:0000085","MP:0002989,MP:0002135,MP:0002759"
+1208,OMIM:616368,Chops Syndrome,AFF4,Aff4<em1(IMPC)Mbp> hom embryo,17.15,HP:0004322,MP:0003984
+1209,OMIM:616394,Retinitis Pigmentosa 71,IFT172,Ift172<tm2b(EUCOMM)Hmgu> het early,50.45,"HP:0012426,HP:0007843,HP:0000543,HP:0000510,HP:0030629",MP:0010097
+1210,OMIM:616410,Spinocerebellar Ataxia 41,TRPC3,Trpc3<Mwk> het early,51.49,"HP:0002317,HP:0002066,HP:0001251","MP:0001406,MP:0003313"
+1211,OMIM:616415,Familial Adenomatous Polyposis 3,NTHL1,Nthl1<em1(IMPC)Mbp> hom early,16.175,HP:0006725,"MP:0000601,MP:0000598"
+1212,OMIM:616418,"Hypomagnesemia, Seizures, And Impaired Intellectual Development 1",CNNM2,Cnnm2<tm1.1(KOMP)Vlcg> hom embryo,42.425,"HP:0100954,HP:0000252","MP:0000433,MP:0011496"
+1213,OMIM:616428,Microphthalmia/Coloboma 10,RBP4,Rbp4<tm1.1(KOMP)Vlcg> hom early,38.815,"HP:0000612,HP:0000567",MP:0001289
+1214,OMIM:616430,Combined Oxidative Phosphorylation Deficiency 25,MARS2,Mars2<tm1.1(KOMP)Vlcg> het early,15.605,HP:0001508,MP:0003961
+1215,OMIM:616433,Immunodeficiency 40,DOCK2,Dock2<tm1b(EUCOMM)Wtsi> hom early,22.15,"HP:0005403,HP:0001403,HP:0002240,HP:0001873",MP:0004952
+1216,OMIM:616449,Basel-Vanagaite-Smirin-Yosef Syndrome,MED25,Med25<tm1b(KOMP)Wtsi> het early,20.79,"HP:0000023,HP:0004691,HP:0009909,HP:0000369","MP:0004738,MP:0002764,MP:0010024"
+1217,OMIM:616452,B-Cell Expansion With Nfkb And T-Cell Anergy,CARD11,Card11<em1(IMPC)Ccpcz> hom early,56.76,"HP:0005404,HP:0001744","MP:0013763,MP:0013771,MP:0004953,MP:0000692,MP:0000703,MP:0005015,MP:0008078,MP:0008074,MP:0000218,MP:0000689,MP:0005013,MP:0010169,MP:0010851,MP:0013436,MP:0000709"
+1218,OMIM:616494,"Leukodystrophy, Hypomyelinating, 11",POLR1C,Polr1c<em1(IMPC)J> het late,35.36,"HP:0001337,HP:0001251","MP:0001513,MP:0001523"
+1219,OMIM:616507,"Osteogenesis Imperfecta, Type Xvii",SPARC,Sparc<tm1a(EUCOMM)Wtsi> hom early,50.8,"HP:0006086,HP:0004349,HP:0002827,HP:0000939,HP:0006470,HP:0001382,HP:0003865,HP:0002757,HP:0000703","MP:0010096,MP:0002100,MP:0000063,MP:0000558,MP:0005296"
+1220,OMIM:616509,Cataract 44,LSS,Lss<tm1b(KOMP)Wtsi> het early,60.19,HP:0000519,MP:0001303
+1221,OMIM:616549,"Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism",MYO18B,Myo18b<em2(IMPC)Ics> het early,12.865,HP:0000369,MP:0004738
+1222,OMIM:616562,Retinitis Pigmentosa 74,BBS2,Bbs2<em2(IMPC)Wtsi> het early,16.215,HP:0001513,MP:0003961
+1223,OMIM:616576,"Immunodeficiency, Common Variable, 12, With Autoimmunity",NFKB1,Nfkb1<tm1a(KOMP)Wtsi> hom early,34.365,"HP:0001890,HP:0001873,HP:0001596","MP:0002075,MP:0000218,MP:0005562"
+1224,OMIM:616579,"Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features",CHAMP1,Champ1<em1(IMPC)Mbp> het early,24.245,"HP:0100025,HP:0002066","MP:0001402,MP:0001417"
+1225,OMIM:616579,"Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features",CHAMP1,Champ1<em1(IMPC)Mbp> het embryo,21.605,HP:0001537,"MP:0001711,MP:0003231"
+1226,OMIM:616579,"Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features",CHAMP1,Champ1<em1(IMPC)Mbp> hom embryo,22.035,HP:0001537,"MP:0001711,MP:0003984,MP:0003231"
+1227,OMIM:616583,"Spondyloepiphyseal Dysplasia, Stanescu Type",COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,57.07,"HP:0004568,HP:0000211,HP:0008422,HP:0000926,HP:0002751","MP:0005270,MP:0000160,MP:0000455"
+1228,OMIM:616583,"Spondyloepiphyseal Dysplasia, Stanescu Type",COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,15.25,"HP:0002673,HP:0034372",MP:0002109
+1229,OMIM:616592,Kosaki Overgrowth Syndrome,PDGFRB,Pdgfrb<tm1b(EUCOMM)Hmgu> het early,14.42,HP:0001114,MP:0001552
+1230,OMIM:616640,"Epilepsy, Progressive Myoclonic, 10",PRDM8,Prdm8<em1(IMPC)Wtsi> hom early,23.095,"HP:0002497,HP:0001251,HP:0002073",MP:0001402
+1231,OMIM:616649,"Spherocytosis, Type 2",SPTB,Sptb<em1(IMPC)J> het early,57.02,"HP:0004444,HP:0001878,HP:0001927,HP:0001923,HP:0001744","MP:0003131,MP:0005562,MP:0002591"
+1232,OMIM:616668,"Charcot-Marie-Tooth Disease, Axonal, Type 2X",SPG11,Spg11<em1(IMPC)J> hom early,32.14,"HP:0001239,HP:0006466,HP:0002174","MP:0010024,MP:0001488"
+1233,OMIM:616672,Combined Oxidative Phosphorylation Deficiency 27,CARS2,Cars2<em1(IMPC)Bay> het early,27.15,"HP:0002179,HP:0001332",MP:0001513
+1234,OMIM:616680,"Spastic Paraplegia 75, Autosomal Recessive",MAG,Mag<tm1.1(KOMP)Vlcg> hom early,31.275,"HP:0000648,HP:0002505,HP:0001310,HP:0002064","MP:0001402,MP:0004738"
+1235,OMIM:616689,Dehydrated Hereditary Stomatocytosis 2,KCNN4,Kcnn4<em1(IMPC)Ccpcz> hom early,52.015,"HP:0005518,HP:0001878,HP:0000952,HP:0020122,HP:0001927,HP:0004823,HP:0001894,HP:0002904,HP:0001923,HP:0025548,HP:0002240,HP:0001744","MP:0002875,MP:0000601,MP:0010067,MP:0000703,MP:0002874,MP:0010090,MP:0000598,MP:0004952,MP:0000689,MP:0000706,MP:0000709,MP:0000691"
+1236,OMIM:616707,"Deafness, Autosomal Dominant 68",HOMER2,Homer2<em1(IMPC)J> hom early,38.685,HP:0000407,MP:0004738
+1237,OMIM:616708,Desanto-Shinawi Syndrome,WAC,Wac<tm2b(EUCOMM)Wtsi> het early,20.955,HP:0000470,MP:0004613
+1238,OMIM:616728,"Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features",KDM1A,Kdm1a<tm1(NCOM)Mfgc> het early,13,HP:0000041,MP:0002989
+1239,OMIM:616737,Takenouchi-Kosaki Syndrome,CDC42,Cdc42<tm1b(EUCOMM)Hmgu> het early,31.835,"HP:0011877,HP:0000047,HP:0000126,HP:0000122,HP:0000648,HP:0001873","MP:0003068,MP:0010067,MP:0002874,MP:0000218,MP:0001325,MP:0005013,MP:0005642,MP:0000219"
+1240,OMIM:616738,Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2,MECOM,Mecom<Jbo> het early,39.45,"HP:0001903,HP:0001433,HP:0001875,HP:0001873,HP:0001905","MP:0002875,MP:0002874"
+1241,OMIM:616738,Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2,MECOM,Mecom<em1(IMPC)J> het early,54.635,"HP:0001903,HP:0001433,HP:0001875,HP:0001873,HP:0001905",MP:0003179
+1242,OMIM:616740,Immunodeficiency 46,TFRC,Tfrc<em1(IMPC)H> het early,47.485,"HP:0001875,HP:0004854,HP:0001903","MP:0002591,MP:0010067,MP:0002874,MP:0005562,MP:0003131"
+1243,OMIM:616784,Joubert Syndrome 26,KATNIP,Katnip<em1(IMPC)Mbp> het early,34.605,"HP:0011787,HP:0000824,HP:0000054,HP:0000871","MP:0000639,MP:0002631,MP:0004931"
+1244,OMIM:616795,Spinocerebellar Ataxia 42,CACNA1G,Cacna1g<em1(IMPC)Mbp> hom early,36.06,"HP:0100543,HP:0000012,HP:0000020,HP:0000716","MP:0003068,MP:0002135,MP:0001415"
+1245,OMIM:616812,"Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25",POPDC1,Popdc1<tm1.1(KOMP)Vlcg> hom early,27.1,"HP:0002505,HP:0001288",MP:0001402
+1246,OMIM:616831,Luscan-Lumish Syndrome,SETD2,Setd2<tm1b(NCOM)Mfgc> hom early,25.185,"HP:0000718,HP:0004233,HP:0001833","MP:0002764,MP:0001417"
+1247,OMIM:616840,"Parkinson Disease 23, Autosomal Recessive Early-Onset",VPS13C,Vps13c<tm1b(EUCOMM)Hmgu> hom late,33.765,"HP:0002527,HP:0031825,HP:0002015,HP:0002304,HP:0002505,HP:0000716,HP:0000741","MP:0001402,MP:0020870"
+1248,OMIM:616843,Lymphatic Malformation 6,PIEZO1,Piezo1<tm1b(KOMP)Wtsi> hom embryo,16.55,HP:0004322,MP:0003984
+1249,OMIM:616849,"Brachydactyly, Type A1, D",BMPR1B,Bmpr1b<em1(IMPC)Mbp> hom early,32.2,"HP:0010241,HP:0004220,HP:0009568,HP:0009566,HP:0004209,HP:0009650,HP:0009638",MP:0000572
+1250,OMIM:616867,Spinal Muscular Atrophy With Congenital Bone Fractures 2,ASCC1,Ascc1<em1(IMPC)Bay> het early,21.9,HP:0001655,MP:0002953
+1251,OMIM:616896,Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type),OPA1,Opa1<em1(IMPC)Bay> hom embryo,22.65,HP:0001639,MP:0000266
+1252,OMIM:616911,Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4,HELLS,Hells<tm1a(EUCOMM)Wtsi> hom early,33.125,HP:0002846,"MP:0000223,MP:0008078"
+1253,OMIM:616913,"Bleeding Disorder, Platelet-Type, 20",SLFN14,Slfn14<em1(IMPC)Tcp> hom early,45.59,HP:0001873,"MP:0002599,MP:0002591,MP:0010067,MP:0005561,MP:0005641,MP:0000208"
+1254,OMIM:616917,"Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy",PIGG,Pigg<em1(IMPC)Bay> hom early,34.04,HP:0001251,MP:0001406
+1255,OMIM:616921,"Dyskinesia, Limb And Orofacial, Infantile-Onset",PDE10A,Pde10a<em1(IMPC)H> hom early,32.58,HP:0002317,MP:0001402
+1256,OMIM:616924,"Charcot-Marie-Tooth Disease, Axonal, Type 2Cc",NEFH,Nefh<tm1.1(KOMP)Vlcg> hom early,35.105,HP:0003236,MP:0002941
+1257,OMIM:616937,Thrombocytopenia 6,SRC,Src<tm2a(EUCOMM)Wtsi> het early,23.53,HP:0001873,MP:0005562
+1258,OMIM:616943,"Trichothiodystrophy 6, Nonphotosensitive",GTF2E2,Gtf2e2<tm1b(EUCOMM)Wtsi> het early,27.03,"HP:0025066,HP:0045048",MP:0002599
+1259,OMIM:616944,"Intellectual Developmental Disorder, Autosomal Dominant 41",TBL1XR1,Tbl1xr1<tm1b(EUCOMM)Hmgu> het early,34.195,"HP:0000574,HP:0002521","MP:0004738,MP:0001284"
+1260,OMIM:616947,Premature Ovarian Failure 12,SYCE1,Syce1<tm1b(KOMP)Wtsi> hom early,38.77,HP:0000786,"MP:0001925,MP:0001926"
+1261,OMIM:616950,Spermatogenic Failure 15,SYCE1,Syce1<tm1b(KOMP)Wtsi> hom early,53.115,"HP:0011961,HP:0003251,HP:0031038","MP:0001925,MP:0001926"
+1262,OMIM:616959,Retinitis Pigmentosa And Erythrocytic Microcytosis,TRNT1,Trnt1<tm1a(EUCOMM)Hmgu> het early,61.015,"HP:0025066,HP:0007722,HP:0001903,HP:0030609,HP:0007843,HP:0040049,HP:0004445,HP:0011273,HP:0001105,HP:0000543,HP:0100014,HP:0004447,HP:0007737,HP:0032231,HP:0200070,HP:0001873,HP:0001882","MP:0005103,MP:0002591"
+1263,OMIM:616973,"Intellectual Developmental Disorder, Autosomal Dominant 42",GNB1,Gnb1<em1(IMPC)Bay> het early,35.78,"HP:0000718,HP:0007018,HP:0100034,HP:0002015,HP:0100035,HP:0002540","MP:0002574,MP:0001364,MP:0001399"
+1264,OMIM:616973,"Intellectual Developmental Disorder, Autosomal Dominant 42",GNB1,Gnb1<em1(IMPC)Bay> hom embryo,25.175,HP:0000175,MP:0008797
+1265,OMIM:616981,Developmental And Epileptic Encephalopathy 37,FRRS1L,Frrs1l<tm1b(EUCOMM)Hmgu> hom early,44.585,"HP:0001266,HP:0001288","MP:0001406,MP:0001513,MP:0001392"
+1266,OMIM:617011,"Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation",HERC1,Herc1<em3(IMPC)Wtsi> hom early,17.7,"HP:0001520,HP:0000358,HP:0000369,HP:0000400,HP:0001382","MP:0003961,MP:0000063,MP:0004738"
+1267,OMIM:617020,Developmental And Epileptic Encephalopathy 38,ARV1,Arv1<em1(IMPC)J> hom early,34.955,"HP:0000737,HP:0002521","MP:0002797,MP:0001399,MP:0004738"
+1268,OMIM:617022,Lethal Congenital Contracture Syndrome 10,NEK9,Nek9<tm1a(EUCOMM)Wtsi> het early,13.53,HP:0000778,MP:0000218
+1269,OMIM:617047,"Cardiomyopathy, Familial Hypertrophic, 26",FLNC,Flnc<em1(IMPC)Bay> hom embryo,30.53,"HP:0031295,HP:0030718,HP:0001639","MP:0000266,MP:0000269"
+1270,OMIM:617049,"Cholestasis, Progressive Familial Intrahepatic, 5",NR1H4,Nr1h4<Nr1h4> hom early,36.17,"HP:0006254,HP:0002908,HP:0001987","MP:0002941,MP:0001556,MP:0005419,MP:0001552,MP:0002968,MP:0005178,MP:0005343"
+1271,OMIM:617052,Bone Marrow Failure Syndrome 3,DNAJC21,Dnajc21<tm1.1(NCOM)Mfgc> het early,23.585,"HP:0100255,HP:0000347,HP:0001374",MP:0002764
+1272,OMIM:617054,"Striatonigral Degeneration, Childhood-Onset",VAC14,Vac14<em1(IMPC)Bay> het early,28.265,HP:0002015,"MP:0001364,MP:0001410"
+1273,OMIM:617070,"Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4",DGUOK,Dguok<em1(IMPC)J> hom early,31.225,HP:0000726,MP:0001417
+1274,OMIM:617087,"Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B",MFN2,Mfn2<tm1b(EUCOMM)Wtsi> het early,45.55,HP:0001288,MP:0001406
+1275,OMIM:617099,"Autoinflammation, Panniculitis, And Dermatosis Syndrome, Autosomal Recessive",OTULIN,Otulin<em1(IMPC)Bay> het early,29.975,"HP:0002716,HP:0011897,HP:0032219,HP:0001974",MP:0000689
+1276,OMIM:617100,Familial Adenomatous Polyposis 4,MSH3,Msh3<em1(IMPC)Mbp> hom early,30.975,HP:0000107,"MP:0003068,MP:0002135"
+1277,OMIM:617102,Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly,IFT52,Ift52<em1(IMPC)Bay> het embryo,19.05,HP:0004322,MP:0003984
+1278,OMIM:617107,Thauvin-Robinet-Faivre Syndrome,FIBP,Fibp<tm1e(EUCOMM)Wtsi> het early,18.405,HP:0410255,"MP:0002875,MP:0005561"
+1279,OMIM:617114,"Myopathy, Myofibrillar, 7",KY,Ky<em1(IMPC)J> hom early,34.89,HP:0001288,MP:0001406
+1280,OMIM:617119,Bardet-Biedl Syndrome 22,IFT74,Ift74<tm1b(EUCOMM)Hmgu> hom early,24.045,HP:0000135,MP:0001925
+1281,OMIM:617121,Joubert Syndrome 28,MKS1,Mks1<tm1a(EUCOMM)Wtsi> het early,12.325,HP:0002553,MP:0000579
+1282,OMIM:617141,Aniridia 2,ELP4,Elp4<em1(IMPC)Bay> het early,43.69,"HP:0000526,HP:0000518,HP:0000612,HP:0001132",MP:0011960
+1283,OMIM:617141,Aniridia 2,ELP4,Elp4<em1(IMPC)Tcp> het early,40.055,"HP:0000648,HP:0000526,HP:0000612","MP:0001289,MP:0002792,MP:0010097"
+1284,OMIM:617143,"Myasthenic Syndrome, Congenital, 20, Presynaptic",SLC5A7,Slc5a7<tm1a(KOMP)Wtsi> het early,15.045,HP:0002804,MP:0010025
+1285,OMIM:617146,"Arthrogryposis, Distal, With Impaired Proprioception And Touch",PIEZO2,Piezo2<em2(IMPC)J> het early,25.1,"HP:0002136,HP:0002540,HP:0003236","MP:0002574,MP:0001552"
+1286,OMIM:617157,"Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures",PRMT7,Prmt7<tm1a(EUCOMM)Wtsi> hom early,14.16,"HP:0001513,HP:0001508",MP:0003961
+1287,OMIM:617158,"Myopathy, Distal, With Rimmed Vacuoles",SQSTM1,Sqstm1<tm1a(KOMP)Wtsi> hom early,43.045,HP:0003236,"MP:0005179,MP:0002968,MP:0000183,MP:0000186"
+1288,OMIM:617162,Developmental And Epileptic Encephalopathy 46,GRIN2D,Grin2d<tm1a(EUCOMM)Wtsi> hom early,30.025,HP:0001337,MP:0001488
+1289,OMIM:617164,Short Stature-Micrognathia Syndrome,ARCN1,Arcn1<tm1a(EUCOMM)Hmgu> het early,19.085,HP:0001629,MP:0002833
+1290,OMIM:617166,Developmental And Epileptic Encephalopathy 47,FGF12,Fgf12<tm1b(KOMP)Wtsi> hom early,24.785,HP:0000713,MP:0020870
+1291,OMIM:617168,"Aortic Aneurysm, Familial Thoracic 10",LOX,Lox<em1(IMPC)Mbp> het early,24.16,HP:0002650,MP:0002759
+1292,OMIM:617180,Chitayat Syndrome,ERF,Erf<tm1.1(KOMP)Mbp> het early,29.035,"HP:0000431,HP:0012471,HP:0000343","MP:0000443,MP:0002100"
+1293,OMIM:617180,Chitayat Syndrome,ERF,Erf<tm1.1(KOMP)Mbp> het embryo,18.45,HP:0004322,MP:0003984
+1294,OMIM:617184,"Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant",SLC25A4,Slc25a4<tm1a(EUCOMM)Wtsi> hom early,21.625,HP:0001639,MP:0002833
+1295,OMIM:617186,"Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1",NAXE,Naxe<tm1b(EUCOMM)Hmgu> hom early,26.91,"HP:0001337,HP:0000473",MP:0001489
+1296,OMIM:617187,Spermatogenic Failure 16,SUN5,Sun5<em1(IMPC)Mbp> hom early,59.935,"HP:0012869,HP:0012207,HP:0003251",MP:0001925
+1297,OMIM:617187,Spermatogenic Failure 16,SUN5,Sun5<em1(IMPC)Mbp> hom late,21.1,HP:0012869,MP:0001146
+1298,OMIM:617201,Periventricular Nodular Heterotopia 7,NEDD4L,Nedd4l<tm1b(KOMP)Wtsi> hom early,29.9,"HP:0000407,HP:0000543,HP:0001251,HP:0002521","MP:0004738,MP:0001402,MP:0001325"
+1299,OMIM:617228,Combined Oxidative Phosphorylation Deficiency 31,MIPEP,Mipep<em1(IMPC)Mbp> het early,20.385,HP:0003348,MP:0002965
+1300,OMIM:617234,Oocyte/Zygote/Embryo Maturation Arrest 16,PADI6,Padi6<tm1b(KOMP)Wtsi> hom early,73.14,HP:0000789,MP:0001926
+1301,OMIM:617235,"Myoclonus, Intractable, Neonatal",KIF5A,Kif5a<tm1b(EUCOMM)Wtsi> het early,29.275,"HP:0000543,HP:0002305","MP:0004738,MP:0006243"
+1302,OMIM:617235,"Myoclonus, Intractable, Neonatal",KIF5A,Kif5a<tm1b(EUCOMM)Wtsi> hom embryo,26.51,HP:0002305,MP:0001491
+1303,OMIM:617237,"Immunodeficiency 49, Severe Combined",BCL11B,Bcl11b<tm1.1(KOMP)Vlcg> hom embryo,30.88,"HP:0000582,HP:0012745",MP:0009263
+1304,OMIM:617248,"3-Methylglutaconic Aciduria, Type Viii",HTRA2,Htra2<tm1.1(KOMP)Vlcg> hom early,19.52,HP:0003811,MP:0011110
+1305,OMIM:617253,Seckel Syndrome 10,NSMCE2,Nsmce2<em1(IMPC)Bay> het embryo,16.22,HP:0003510,MP:0003984
+1306,OMIM:617253,Seckel Syndrome 10,NSMCE2,Nsmce2<em1(IMPC)Bay> hom embryo,16.025,HP:0003510,MP:0003984
+1307,OMIM:617258,"Myopathy, Myofibrillar, 8",PYROXD1,Pyroxd1<tm1b(KOMP)Wtsi> het early,20.395,"HP:0002359,HP:0002015,HP:0000218","MP:0000745,MP:0000470"
+1308,OMIM:617260,"Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies",ZNF148,Zfp148<tm1b(EUCOMM)Hmgu> het early,19.21,HP:0000107,MP:0002135
+1309,OMIM:617271,Nephronophthisis 20,MAPKBP1,Mapkbp1<tm1b(EUCOMM)Hmgu> hom early,42.955,"HP:0000076,HP:0003774,HP:0000090,HP:0000083,HP:0000107",MP:0003917
+1310,OMIM:617282,"Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities",MECR,Mecr<tm1a(EUCOMM)Wtsi> het early,42.05,"HP:0001332,HP:0002505,HP:0012179,HP:0000643,HP:0001251,HP:0002305,HP:0001288","MP:0001406,MP:0005316"
+1311,OMIM:617303,Mucopolysaccharidosis-Plus Syndrome,VPS33A,Vps33a<em2(IMPC)Tcp> het early,44.545,"HP:0001631,HP:0001903,HP:0000105,HP:0001403,HP:0001639,HP:0005528,HP:0001744,HP:0001875,HP:0002240,HP:0001873,HP:0001882","MP:0010067,MP:0004952,MP:0002833,MP:0005016,MP:0000219"
+1312,OMIM:617303,Mucopolysaccharidosis-Plus Syndrome,VPS33A,Vps33a<em2(IMPC)Tcp> het late,54.63,"HP:0000105,HP:0008807,HP:0000093,HP:0001217,HP:0000123,HP:0000100,HP:0000092,HP:0003016,HP:0002869,HP:0000097,HP:0002240,HP:0001744","MP:0003068,MP:0000157,MP:0011874,MP:0002764"
+1313,OMIM:617308,"Bile Acid Synthesis Defect, Congenital, 6",ACOX2,Acox2<em1(IMPC)Bay> hom early,34.575,"HP:0002066,HP:0001310,HP:0001251",MP:0001392
+1314,OMIM:617333,Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis,BRPF1,Brpf1<tm1a(EUCOMM)Wtsi> het early,20.77,"HP:0012385,HP:0004602,HP:0001382",MP:0000063
+1315,OMIM:617370,Peroxisome Biogenesis Disorder 10B,PEX3,Pex3<tm1a(EUCOMM)Wtsi> hom early,30.785,HP:0000518,"MP:0001312,MP:0005542"
+1316,OMIM:617389,Developmental And Epileptic Encephalopathy 53,SYNJ1,Synj1<tm1b(EUCOMM)Wtsi> het early,35.055,"HP:0002510,HP:0001332",MP:0000745
+1317,OMIM:617392,"Ectodermal Dysplasia 13, Hair/Tooth Type",KREMEN1,Kremen1<em1(IMPC)Ccpcz> hom early,27.79,"HP:0000677,HP:0012471",MP:0002100
+1318,OMIM:617395,"Congenital Disorder Of Glycosylation, Type Iiq",COG2,Cog2<tm1a(KOMP)Wtsi> het early,32.725,"HP:0011967,HP:0010837","MP:0005632,MP:0001554"
+1319,OMIM:617425,Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities,EXTL3,Extl3<em1(IMPC)Mbp> het late,24.41,"HP:0010605,HP:0005562,HP:0001888,HP:0031545,HP:0001407,HP:0001880","MP:0002989,MP:0001146,MP:0002135,MP:0000598,MP:0000689,MP:0001147,MP:0001158,MP:0000599,MP:0000691"
+1320,OMIM:617433,Retinitis Pigmentosa 78,ARHGEF18,Arhgef18<tm1b(KOMP)Mbp> het early,36.72,"HP:0000543,HP:0011505",MP:0001325
+1321,OMIM:617441,"Thrombocytopenia, Anemia, And Myelofibrosis",MPIG6B,Mpig6b<tm1.1(KOMP)Vlcg> hom early,55.96,"HP:0004823,HP:0001903,HP:0001873,HP:0001744","MP:0002599,MP:0003179,MP:0004952,MP:0000689,MP:0000691"
+1322,OMIM:617468,"Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect",LGI4,Lgi4<tm1.1(KOMP)Vlcg> hom early,25.995,HP:0003826,MP:0011100
+1323,OMIM:617475,Specific Granule Deficiency 2,SMARCD2,Smarcd2<tm1.1(KOMP)Vlcg> het early,36.025,"HP:0001875,HP:0001903,HP:0001873,HP:0012551",MP:0002590
+1324,OMIM:617493,Neurodevelopmental Disorder With Involuntary Movements,GNAO1,Gnao1<tm1b(EUCOMM)Hmgu> het early,32.76,"HP:0002015,HP:0002305,HP:0100716,HP:0002072,HP:0001332","MP:0001364,MP:0001399,MP:0001523"
+1325,OMIM:617523,Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations,ARHGEF2,Arhgef2<em1(IMPC)Mbp> hom early,24.64,HP:0000543,MP:0001325
+1326,OMIM:617575,Reni Syndrome,SGPL1,Sgpl1<tm1.1(KOMP)Vlcg> het early,40.97,"HP:0000054,HP:0000135,HP:0000821,HP:0000846,HP:0000028","MP:0001147,MP:0001146,MP:0002631,MP:0004931"
+1327,OMIM:617593,Spermatogenic Failure 20,CFAP44,Cfap44<tm1a(EUCOMM)Wtsi> hom early,76.845,"HP:0032559,HP:0032560,HP:0032558,HP:0003251",MP:0001925
+1328,OMIM:617595,Birk-Landau-Perez Syndrome,SLC30A9,Slc30a9<em1(IMPC)Bay> het embryo,32.33,"HP:0001511,HP:0001510","MP:0003984,MP:0001697"
+1329,OMIM:617595,Birk-Landau-Perez Syndrome,SLC30A9,Slc30a9<em1(IMPC)Bay> hom embryo,31.505,"HP:0001511,HP:0001510","MP:0003984,MP:0001697"
+1330,OMIM:617598,Mosaic Variegated Aneuploidy Syndrome 3,TRIP13,Trip13<tm1.1(KOMP)Vlcg> het early,33.7,HP:0000510,MP:0001325
+1331,OMIM:617598,Mosaic Variegated Aneuploidy Syndrome 3,TRIP13,Trip13<tm1.1(KOMP)Vlcg> hom early,15.985,HP:0007429,MP:0005102
+1332,OMIM:617598,Mosaic Variegated Aneuploidy Syndrome 3,TRIP13,Trip13<tm1.1(KOMP)Vlcg> hom late,23.625,"HP:0007429,HP:0002804","MP:0002075,MP:0010024,MP:0000063"
+1333,OMIM:617598,Mosaic Variegated Aneuploidy Syndrome 3,TRIP13,Trip13<em1(IMPC)J> hom early,20.67,HP:0002804,MP:0000063
+1334,OMIM:617610,Polycystic Kidney Disease 5,DZIP1L,Dzip1l<em1(IMPC)J> hom embryo,23.92,HP:0000822,MP:0001914
+1335,OMIM:617635,"Intellectual Developmental Disorder, Autosomal Dominant 47",STAG1,Stag1<em1(IMPC)Mbp> het early,31.57,"HP:0000028,HP:0002558",MP:0002997
+1336,OMIM:617635,"Intellectual Developmental Disorder, Autosomal Dominant 47",STAG1,Stag1<em1(IMPC)Mbp> hom embryo,35.72,"HP:0001511,HP:0010880","MP:0003984,MP:0001785"
+1337,OMIM:617637,"Deafness, Autosomal Recessive 106",EPS8L2,Eps8l2<tm1b(EUCOMM)Wtsi> hom early,23.945,HP:0000365,MP:0002102
+1338,OMIM:617638,Immunodeficiency 11B With Atopic Dermatitis,CARD11,Card11<em1(IMPC)Ccpcz> hom early,33.98,HP:0001880,"MP:0013763,MP:0013771,MP:0004953,MP:0000692,MP:0000703,MP:0005015,MP:0008078,MP:0008074,MP:0000218,MP:0000689,MP:0005013,MP:0010169,MP:0010851,MP:0013436,MP:0000709"
+1339,OMIM:617642,"Polydactyly, Postaxial, Type A7",IQCE,Iqce<tm1b(EUCOMM)Hmgu> hom early,42.5,"HP:0005709,HP:0001162,HP:0004704,HP:0001830",MP:0002764
+1340,OMIM:617661,"Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2",KYNU,Kynu<em1(IMPC)J> hom early,26.935,HP:6000776,MP:0005344
+1341,OMIM:617662,"Joint Laxity, Short Stature, And Myopia",GZF1,Gzf1<em1(IMPC)Tcp> het early,28.48,HP:0000612,"MP:0001304,MP:0001303"
+1342,OMIM:617662,"Joint Laxity, Short Stature, And Myopia",GZF1,Gzf1<em1(IMPC)Tcp> hom early,24.17,"HP:0000023,HP:0000365,HP:0001537,HP:0001762","MP:0004738,MP:0002764,MP:0010024"
+1343,OMIM:617675,"Myopathy, Mitochondrial, And Ataxia",MSTO1,Msto1<em1(IMPC)Tcp> het early,18.265,"HP:0000870,HP:0003236","MP:0002059,MP:0001552"
+1344,OMIM:617698,"3-Methylglutaconic Aciduria, Type Ix",TIMM50,Timm50<tm1b(EUCOMM)Wtsi> het early,27.515,"HP:0000648,HP:0001508","MP:0003731,MP:0003960,MP:0011965"
+1345,OMIM:617718,Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia,ARPC1B,Arpc1b<tm1a(EUCOMM)Wtsi> hom early,60.29,"HP:0011227,HP:0100827,HP:0001873,HP:0005537","MP:0002599,MP:0010168,MP:0012768,MP:0010067,MP:0005568,MP:0013775,MP:0013672,MP:0013514,MP:0013430,MP:0013675,MP:0009926,MP:0013768,MP:0013157,MP:0005419,MP:0002966,MP:0005505,MP:0008075,MP:0013433,MP:0008097,MP:0013654,MP:0008045,MP:0005562,MP:0013427,MP:0000194,MP:0010835,MP:0003884,MP:0000218,MP:0013772,MP:0013667"
+1346,OMIM:617721,"Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 9",WARS1,Wars1<tm1b(EUCOMM)Hmgu> het late,53.665,HP:0001288,MP:0001406
+1347,OMIM:617744,"Immunodeficiency, Developmental Delay, And Hypohomocysteinemia",NFE2L2,Nfe2l2<em1(IMPC)Ccpcz> hom early,51.705,"HP:0020222,HP:0012101,HP:0500152,HP:0001508","MP:0005553,MP:0005344,MP:0002968,MP:0001262"
+1348,OMIM:617746,Sweeney-Cox Syndrome,TWIST1,Twist1<em1(IMPC)Rbrc> het early,34.875,"HP:0010709,HP:0000294,HP:0009882,HP:0000894,HP:0001776,HP:0100807,HP:0002230,HP:0000347,HP:0005650,HP:0000349,HP:0010715","MP:0000572,MP:0002110,MP:0004509,MP:0000579,MP:0005270"
+1349,OMIM:617746,Sweeney-Cox Syndrome,TWIST1,Twist1<em1(IMPC)Rbrc> het late,34.835,"HP:0010709,HP:0000294,HP:0009882,HP:0000894,HP:0001776,HP:0100807,HP:0002230,HP:0005650,HP:0000349,HP:0010715","MP:0000579,MP:0000572,MP:0002110"
+1350,OMIM:617751,"Intellectual Developmental Disorder, Autosomal Dominant 48",RAC1,Rac1<em1(IMPC)Mbp> het early,43.76,"HP:0000047,HP:0000752,HP:0000733","MP:0002989,MP:0001146,MP:0001399,MP:0001147"
+1351,OMIM:617757,Joubert Syndrome 32,SUFU,Sufu<tm1b(KOMP)Wtsi> hom embryo,11.025,"HP:0001830,HP:0001162",MP:0005650
+1352,OMIM:617767,Joubert Syndrome 33,PIBF1,Pibf1<tm1.1(KOMP)Vlcg> het early,22.12,HP:0001744,MP:0002833
+1353,OMIM:617780,Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia,MTHFD1,Mthfd1<tm2b(KOMP)Wtsi> het early,19.015,HP:0002160,MP:0005419
+1354,OMIM:617788,"Intellectual Developmental Disorder, Autosomal Dominant 51",KMT5B,Kmt5b<tm1a(KOMP)Wtsi> het early,32.005,HP:0001508,MP:0001262
+1355,OMIM:617788,"Intellectual Developmental Disorder, Autosomal Dominant 51",KMT5B,Kmt5b<tm1a(KOMP)Wtsi> hom early,32.085,HP:0001508,MP:0001262
+1356,OMIM:617796,"Intellectual Developmental Disorder, Autosomal Dominant 52",ASH1L,Ash1l<tm2b(EUCOMM)Hmgu> het early,15.625,"HP:0000294,HP:0000664",MP:0001510
+1357,OMIM:617799,"Intellectual Developmental Disorder, Autosomal Dominant 54",CAMK2B,Camk2b<tm1b(EUCOMM)Hmgu> het early,35.915,"HP:0000718,HP:0002540,HP:0000737,HP:0003763,HP:0001251","MP:0002757,MP:0001364,MP:0001399,MP:0020870"
+1358,OMIM:617800,"Microcephaly 19, Primary, Autosomal Recessive",COPB2,Copb2<em1(IMPC)Bay> het early,25.03,"HP:0001531,HP:0004325",MP:0003960
+1359,OMIM:617804,Neurodevelopmental Disorder With Variable Motor And Language Impairment,DHX30,Dhx30<tm1.1(KOMP)Vlcg> het early,26.805,"HP:0002540,HP:0001332,HP:0001251","MP:0001402,MP:0001488"
+1360,OMIM:617809,Geleophysic Dysplasia 3,LTBP3,Ltbp3<em1(IMPC)Ccpcz> het early,13.685,HP:0002240,MP:0000689
+1361,OMIM:617809,Geleophysic Dysplasia 3,LTBP3,Ltbp3<em1(IMPC)Ccpcz> hom early,33.92,"HP:0001773,HP:0000343,HP:0002656,HP:0009826,HP:0001156,HP:0012471","MP:0013129,MP:0002764,MP:0002100"
+1362,OMIM:617810,Glycosylphosphatidylinositol Biosynthesis Defect 15,GPAA1,Gpaa1<em1(IMPC)Bay> het early,24.91,HP:0000648,MP:0002792
+1363,OMIM:617821,"Ehlers-Danlos Syndrome, Arthrochalasia Type, 2",COL1A2,Col1a2<tm1b(EUCOMM)Wtsi> hom early,24.7,"HP:0001762,HP:0002827,HP:0001075,HP:0001187,HP:0001382,HP:0001822","MP:0010025,MP:0000558,MP:0000559,MP:0000062"
+1364,OMIM:617822,Alkuraya-Kucinskas Syndrome,BLTP1,Bltp1<tm1b(EUCOMM)Hmgu> het early,40.18,"HP:0000518,HP:0001698","MP:0001304,MP:0002833,MP:0001303"
+1365,OMIM:617836,Developmental Delay And Seizures With Or Without Movement Abnormalities,DHDDS,Dhdds<tm1b(KOMP)Wtsi> het early,52.76,"HP:0002067,HP:0001337,HP:0002063,HP:0001251,HP:0001332",MP:0000745
+1366,OMIM:617865,"Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features",ZSWIM6,Zswim6<em1(IMPC)J> het early,24.71,HP:0000752,MP:0005655
+1367,OMIM:617866,Short-Rib Thoracic Dysplasia 18 With Polydactyly,IFT43,Ift43<tm1b(EUCOMM)Hmgu> hom embryo,36.005,"HP:0000238,HP:0000476","MP:0003232,MP:0003720,MP:0002151,MP:0006108,MP:0002884,MP:0003864"
+1368,OMIM:617885,Body Mass Index Quantitative Trait Locus 19,ADCY3,Adcy3<tm1a(EUCOMM)Wtsi> het early,17.43,HP:0001513,MP:0003961
+1369,OMIM:617898,Multiple Synostoses Syndrome 4,GDF6,Gdf6<em1(IMPC)Ccpcz> het early,33.905,"HP:0008368,HP:0001845,HP:0001156",MP:0002110
+1370,OMIM:617913,"Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities",GEMIN4,Gemin4<em1(IMPC)Ics> het early,20.305,"HP:0002902,HP:0003761,HP:0002901,HP:0002900","MP:0005178,MP:0001556,MP:0002968,MP:0005568"
+1371,OMIM:617948,Elliptocytosis 3,SPTB,Sptb<em1(IMPC)J> het early,51.015,"HP:0025066,HP:0004870,HP:0004839,HP:0004445","MP:0003131,MP:0005562,MP:0002591"
+1372,OMIM:617952,"Osteogenesis Imperfecta, Type Xviii",TENT5A,Tent5a<em1(IMPC)Ccpcz> hom early,52.6,"HP:0006487,HP:0002753,HP:0002953,HP:0000164,HP:0004586,HP:0000347,HP:0002980,HP:0040160,HP:0000883,HP:0002645","MP:0000458,MP:0002764,MP:0000558,MP:0000161,MP:0000559,MP:0002100,MP:0004509,MP:0003795,MP:0005108,MP:0000552,MP:0004174,MP:0000150,MP:0005296,MP:0002187,MP:0000149,MP:0002932"
+1373,OMIM:617959,Spermatogenic Failure 24,CFAP69,Cfap69<tm1b(KOMP)Wtsi> hom early,42.365,"HP:0032561,HP:0032562,HP:0032559,HP:0032560,HP:0012207",MP:0001925
+1374,OMIM:617964,"Leukodystrophy, Hypomyelinating, 16",TMEM106B,Tmem106b<em1(IMPC)Bay> hom early,27.015,HP:0000543,"MP:0003733,MP:0011965"
+1375,OMIM:617965,Spermatogenic Failure 27,AK7,Ak7<em1(IMPC)Ccpcz> het early,28.42,"HP:0032558,HP:0033525,HP:0032559,HP:0032560,HP:0012207,HP:0003251","MP:0001147,MP:0001146,MP:0001126"
+1376,OMIM:617985,"Microcephaly 23, Primary, Autosomal Recessive",NCAPH,Ncaph<tm1a(EUCOMM)Wtsi> het early,30.73,HP:0001518,MP:0003960
+1377,OMIM:617988,Jaberi-Elahi Syndrome,GTPBP2,Gtpbp2<tm1b(KOMP)Mbp> hom early,21.345,HP:0000648,MP:0002792
+1378,OMIM:617991,Chung-Jansen Syndrome,PHIP,Phip<em1(IMPC)Tcp> het early,43.99,"HP:0000718,HP:0100710,HP:0007018,HP:0000028","MP:0002637,MP:0001399"
+1379,OMIM:617993,"Tumoral Calcinosis, Hyperphosphatemic, Familial, 2",FGF23,Fgf23<em1(IMPC)Ccpcz> het early,30.1,HP:0002150,"MP:0003020,MP:0005565,MP:0004151"
+1380,OMIM:618010,Glycosylphosphatidylinositol Biosynthesis Defect 17,PIGH,Pigh<tm1.1(KOMP)Vlcg> het early,28.785,HP:0002155,"MP:0005633,MP:0000186"
+1381,OMIM:618019,Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly,LBR,Lbr<em1(IMPC)Tcp> hom early,43.035,"HP:0006380,HP:0100255,HP:0010047,HP:0011447,HP:0100864,HP:0010044,HP:0001156,HP:0003026,HP:0003865,HP:0003015,HP:0008905,HP:0010055,HP:0001382,HP:0002857,HP:0012385,HP:0002986,HP:0003021,HP:0001377,HP:0002980,HP:0009826,HP:0003025","MP:0002764,MP:0000556,MP:0000220,MP:0005562,MP:0002110,MP:0000063,MP:0005016,MP:0000550,MP:0000219"
+1382,OMIM:618027,Coffin-Siris Syndrome 7,DPF2,Dpf2<tm1b(EUCOMM)Hmgu> hom embryo,33.63,"HP:0001562,HP:0001629,HP:0001561,HP:0001647,HP:0001655,HP:0004209,HP:0001156","MP:0002109,MP:0000266,MP:0001785"
+1383,OMIM:618036,"Charcot-Marie-Tooth Disease, Axonal, Type 2Dd",ATP1A1,Atp1a1<em1(IMPC)Ccpcz> het early,39.95,"HP:0003693,HP:0009027",MP:0000759
+1384,OMIM:618050,"Intellectual Developmental Disorder, Autosomal Dominant 57",TLK2,Tlk2<em1(IMPC)Bay> het early,18.89,HP:0001363,"MP:0010123,MP:0003795"
+1385,OMIM:618052,"Cardiomyopathy, Familial Hypertrophic, 27",ALPK3,Alpk3<tm1b(EUCOMM)Hmgu> hom early,63,"HP:0025168,HP:0001635,HP:0001639,HP:0001706,HP:0005157,HP:0005144,HP:0001657,HP:0005180,HP:0001640,HP:0006670,HP:0001653,HP:0001695,HP:0031319,HP:0001667","MP:0010579,MP:0002753,MP:0002833,MP:0000274,MP:0005140,MP:0002953"
+1386,OMIM:618060,Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia,RORA,Rora<tm1b(EUCOMM)Wtsi> het early,28.655,HP:0001337,MP:0001489
+1387,OMIM:618067,Developmental And Epileptic Encephalopathy 66,PACS2,Pacs2<tm1a(EUCOMM)Hmgu> hom early,35.21,"HP:0001875,HP:0001903,HP:0004209","MP:0002874,MP:0002764"
+1388,OMIM:618088,"Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures",IRF2BPL,Irf2bpl<em2(IMPC)Bay> het early,34.02,"HP:0001266,HP:0002505,HP:0001251,HP:0001310",MP:0001402
+1389,OMIM:618089,Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities,FBXO11,Fbxo11<Jf> het early,37.95,"HP:0002020,HP:0000752,HP:0000938,HP:0001513,HP:0002013,HP:0004442,HP:0002019,HP:0001382,HP:0005617","MP:0002896,MP:0001399,MP:0003866,MP:0003960"
+1390,OMIM:618089,Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities,FBXO11,Fbxo11<tm2b(EUCOMM)Wtsi> het early,42.045,"HP:0001763,HP:0000752,HP:0001769,HP:0001773,HP:0045075,HP:0001869,HP:0000347,HP:0003100,HP:0000527,HP:0000637,HP:0000286,HP:0011229,HP:0200055,HP:0002553,HP:0010749,HP:0045025,HP:0001852,HP:0001166,HP:0001182,HP:0004279,HP:0009836,HP:0001500,HP:0000494,HP:0030084,HP:0005617,HP:0001770","MP:0001399,MP:0002764,MP:0005287"
+1391,OMIM:618090,Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum,LNPK,Lnpk<em1(IMPC)Bay> hom early,55.62,"HP:0000752,HP:0002540,HP:0001310,HP:0002066,HP:0001288","MP:0002574,MP:0001399"
+1392,OMIM:618091,Spermatogenic Failure 29,SPINK2,Spink2<tm1.1(KOMP)Vlcg> hom early,67.54,"HP:0012208,HP:0011961,HP:0003251","MP:0001925,MP:0002631"
+1393,OMIM:618092,"Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities",BCL11B,Bcl11b<tm1.1(KOMP)Vlcg> het early,24.58,HP:0002317,MP:0002574
+1394,OMIM:618092,"Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities",BCL11B,Bcl11b<tm1.1(KOMP)Vlcg> hom embryo,37.655,"HP:0045074,HP:0012745,HP:0000286",MP:0009263
+1395,OMIM:618107,"Osteopetrosis, Autosomal Dominant 3",PLEKHM1,Plekhm1<tm1b(EUCOMM)Hmgu> hom early,38.655,"HP:0000938,HP:0002757","MP:0010123,MP:0000062"
+1396,OMIM:618116,Bone Marrow Failure Syndrome 4,MYSM1,Mysm1<tm1a(KOMP)Wtsi> het early,35.865,"HP:0001903,HP:0001873,HP:0001882",MP:0002590
+1397,OMIM:618116,Bone Marrow Failure Syndrome 4,MYSM1,Mysm1<tm1a(KOMP)Wtsi> hom early,47.69,"HP:0001903,HP:0008905,HP:0004313,HP:0005528,HP:0001873,HP:0001882","MP:0002590,MP:0002875,MP:0008501,MP:0000556,MP:0005015,MP:0005505,MP:0008074,MP:0002874,MP:0000572,MP:0008502,MP:0005564,MP:0000322,MP:0005641,MP:0000221,MP:0005017,MP:0008211,MP:0000208,MP:0002492"
+1398,OMIM:618145,"Deafness, Autosomal Recessive 111",MPZL2,Mpzl2<tm1b(EUCOMM)Hmgu> hom early,24.515,HP:0000408,MP:0002102
+1399,OMIM:618162,"Spondyloepimetaphyseal Dysplasia, Krakow Type",SIK3,Sik3<tm1a(EUCOMM)Hmgu> hom early,32.805,"HP:0000767,HP:0006380,HP:0008905,HP:0003025,HP:0010582,HP:0002694,HP:0003049,HP:0004691,HP:0003027,HP:0034391,HP:0004209,HP:0008788,HP:0001156","MP:0000558,MP:0000559,MP:0002187,MP:0003795,MP:0004509,MP:0005108,MP:0000552,MP:0000150,MP:0010025,MP:0005296,MP:0002932"
+1400,OMIM:618164,"Cardiac, Facial, And Digital Anomalies With Developmental Delay",TRAF7,Traf7<em1(IMPC)Tcp> het early,20.955,HP:0000648,MP:0001325
+1401,OMIM:618179,"Microcephaly 24, Primary, Autosomal Recessive",NUP37,Nup37<tm1.1(KOMP)Vlcg> hom late,37.855,HP:0004209,MP:0000572
+1402,OMIM:618182,Orthostatic Hypotension 2,CYB561,Cyb561<tm1a(EUCOMM)Wtsi> hom early,34.31,HP:0001903,"MP:0003131,MP:0002608,MP:0005564"
+1403,OMIM:618182,Orthostatic Hypotension 2,CYB561,Cyb561<tm1b(EUCOMM)Wtsi> hom early,39.805,HP:0001943,"MP:0013278,MP:0005560"
+1404,OMIM:618184,"Neuropathy, Congenital Hypomyelinating, 2",MPZ,Mpz<em1(IMPC)Tcp> hom early,42.355,HP:0002540,"MP:0001406,MP:0001402"
+1405,OMIM:618187,Ovarian Dysgenesis 8,ESR2,Esr2<em1(IMPC)Marc> hom early,39.625,"HP:0003782,HP:0000939","MP:0010124,MP:0003961,MP:0000063"
+1406,OMIM:618205,Snijders Blok-Campeau Syndrome,CHD3,Chd3<em1(IMPC)J> hom early,38.295,"HP:0007018,HP:0000733",MP:0001399
+1407,OMIM:618219,"Polydactyly, Postaxial, Type A9",CIBAR1,Cibar1<tm1b(KOMP)Wtsi> hom early,30.29,"HP:0001162,HP:0001830",MP:0005296
+1408,OMIM:618220,Retinitis Pigmentosa 84,DHX38,Dhx38<em1(IMPC)J> het early,17.335,HP:0007737,MP:0002075
+1409,OMIM:618221,"Intellectual Developmental Disorder, Autosomal Recessive 66",FERRY3,D6Wsu163e<tm1b(EUCOMM)Wtsi> hom early,35.055,"HP:0000718,HP:0001382,HP:0007018","MP:0000063,MP:0011939"
+1410,OMIM:618225,"Mitochondrial Complex I Deficiency, Nuclear Type 4",NDUFV1,Ndufv1<tm1.1(KOMP)Vlcg> het early,31.705,HP:0001254,MP:0001399
+1411,OMIM:618226,"Mitochondrial Complex I Deficiency, Nuclear Type 5",NDUFS1,Ndufs1<tm1b(EUCOMM)Hmgu> het early,38.09,"HP:0000648,HP:0001251,HP:0001254","MP:0002757,MP:0002699,MP:0001402,MP:0001325"
+1412,OMIM:618230,"Mitochondrial Complex I Deficiency, Nuclear Type 8",NDUFS3,Ndufs3<tm1a(EUCOMM)Wtsi> het early,28.98,"HP:0002530,HP:0001332",MP:0001488
+1413,OMIM:618232,"Mitochondrial Complex I Deficiency, Nuclear Type 9",NDUFS6,Ndufs6<em1(IMPC)Bay> hom early,25.46,HP:0003811,MP:0011100
+1414,OMIM:618232,"Mitochondrial Complex I Deficiency, Nuclear Type 9",NDUFS6,Ndufs6<em1(IMPC)Bay> hom embryo,25.46,HP:0003811,MP:0002080
+1415,OMIM:618238,"Mitochondrial Complex I Deficiency, Nuclear Type 16",NDUFAF5,Ndufaf5<em1(IMPC)Bay> het early,26.74,HP:0001266,MP:0001392
+1416,OMIM:618254,"Ciliary Dyskinesia, Primary, 39",LRRC56,Lrrc56<em1(IMPC)Tcp> hom early,55.855,"HP:0001651,HP:0001719,HP:0002110,HP:0002783","MP:0006065,MP:0001175"
+1417,OMIM:618265,"Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development",PPP3CA,Ppp3ca<tm2e(EUCOMM)Wtsi> hom early,24.46,HP:0004325,MP:0001260
+1418,OMIM:618272,"Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor",DICER1,Dicer1<tm1b(EUCOMM)Wtsi> het early,17.125,HP:0001520,MP:0003961
+1419,OMIM:618280,Cardiac-Urogenital Syndrome,MYRF,Myrf<em1(IMPC)Bay> het embryo,12.62,HP:0010479,"MP:0003984,MP:0001697"
+1420,OMIM:618280,Cardiac-Urogenital Syndrome,MYRF,Myrf<em1(IMPC)Bay> hom embryo,12.91,HP:0010479,"MP:0003984,MP:0001697,MP:0001700"
+1421,OMIM:618298,Developmental And Epileptic Encephalopathy 70,PHACTR1,Phactr1<em1(IMPC)Mbp> hom late,36.47,HP:0000028,MP:0002059
+1422,OMIM:618307,Immunodeficiency 129,RHOH,Rhoh<tm1b(EUCOMM)Hmgu> hom early,31.62,HP:0031514,MP:0000221
+1423,OMIM:618321,"Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2",NAXD,Naxd<em1(IMPC)Bay> het early,33.525,"HP:0000718,HP:0002066,HP:0001254,HP:0001251","MP:0001402,MP:0001410"
+1424,OMIM:618329,Combined Oxidative Phosphorylation Deficiency 37,MICOS13,Micos13<tm1.1(KOMP)Vlcg> het early,23.37,"HP:0003348,HP:0003073","MP:0005179,MP:0000198,MP:0005554,MP:0000186"
+1425,OMIM:618358,Cone-Rod Dystrophy And Hearing Loss 2,CEP250,Cep250<tm1a(EUCOMM)Wtsi> hom early,25.2,HP:0001757,MP:0004738
+1426,OMIM:618362,Coffin-Siris Syndrome 8,SMARCC2,Smarcc2<em1(IMPC)J> het early,33.07,"HP:0000718,HP:0000752,HP:0100716",MP:0020870
+1427,OMIM:618369,"Spinocerebellar Ataxia, Autosomal Recessive 27",GDAP2,Gdap2<em1(IMPC)Wtsi> hom early,23.225,HP:0000473,MP:0006358
+1428,OMIM:618371,Turnpenny-Fry Syndrome,PCGF2,Pcgf2<tm1b(KOMP)Mbp> het early,23.295,"HP:0002938,HP:0005659",MP:0003049
+1429,OMIM:618373,"Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma",SASH1,Sash1<em1(IMPC)Bay> het early,21.995,HP:0000524,MP:0002792
+1430,OMIM:618374,Developmental And Epileptic Encephalopathy 72,NEUROD2,Neurod2<em1(IMPC)Hmgu> het early,34.02,"HP:0002015,HP:0000483","MP:0001303,MP:0001399"
+1431,OMIM:618374,Developmental And Epileptic Encephalopathy 72,NEUROD2,Neurod2<em1(IMPC)Hmgu> hom early,49.2,"HP:0002015,HP:0002540,HP:0000483","MP:0001304,MP:0001314,MP:0001402,MP:0011940,MP:0002797,MP:0002757,MP:0001312,MP:0001303,MP:0001363,MP:0005544,MP:0001392,MP:0001399"
+1432,OMIM:618384,"Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate",SLC13A3,Slc13a3<tm1b(KOMP)Wtsi> hom early,24.775,HP:0034649,MP:0005553
+1433,OMIM:618394,Immunodeficiency 60 And Autoimmunity,BACH2,Bach2<tm1a(EUCOMM)Wtsi> hom early,55.58,"HP:0001876,HP:0030374,HP:0031808,HP:0001744","MP:0013435,MP:0013022,MP:0005425,MP:0010851,MP:0013514,MP:0013154,MP:0013430,MP:0013157,MP:0008174,MP:0005505,MP:0013433,MP:0013654,MP:0010850,MP:0008214,MP:0005017,MP:0008211,MP:0004974,MP:0005011,MP:0013025,MP:0012767,MP:0013427,MP:0013426,MP:0013651,MP:0008044,MP:0013424,MP:0000219,MP:0010835,MP:0000220,MP:0010838,MP:0013649,MP:0013772,MP:0013517"
+1434,OMIM:618394,Immunodeficiency 60 And Autoimmunity,BACH2,Bach2<tm1b(EUCOMM)Wtsi> hom early,49.58,"HP:0001876,HP:0030374,HP:0031808,HP:0001744","MP:0013435,MP:0013514,MP:0013675,MP:0013510,MP:0008174,MP:0008207,MP:0013669,MP:0010850,MP:0005017,MP:0008190,MP:0008040,MP:0005011,MP:0008045,MP:0008168,MP:0013513,MP:0008039,MP:0000220,MP:0013649,MP:0008182,MP:0000322"
+1435,OMIM:618397,Combined Oxidative Phosphorylation Deficiency 39,GFM2,Gfm2<em1(IMPC)Mbp> het early,15.495,HP:0100651,MP:0000639
+1436,OMIM:618398,"T-Cell Lymphoma, Subcutaneous Panniculitis-Like",HAVCR2,Havcr2<tm1b(KOMP)Wtsi> hom early,42.63,"HP:0001744,HP:0001903,HP:0001876,HP:0012156",MP:0004952
+1437,OMIM:618400,"Charcot-Marie-Tooth Disease, Axonal, Type 2Ee",MPV17,Mpv17<em1(IMPC)J> hom early,25.015,HP:0008180,MP:0005565
+1438,OMIM:618430,Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities,TCF20,Tcf20<em1(IMPC)Wtsi> hom early,16.655,HP:0001513,MP:0003961
+1439,OMIM:618431,"Hydatidiform Mole, Recurrent, 3",MEI1,Mei1<em1(IMPC)Bay> hom early,72.725,HP:0008222,"MP:0001925,MP:0001926"
+1440,OMIM:618438,"Spastic Ataxia 9, Autosomal Recessive",CHP1,Chp1<em1(IMPC)Tcp> het embryo,21.21,HP:0001510,MP:0003984
+1441,OMIM:618438,"Spastic Ataxia 9, Autosomal Recessive",CHP1,Chp1<em1(IMPC)Tcp> hom embryo,21.11,HP:0001510,MP:0003984
+1442,OMIM:618440,Oculoskeletodental Syndrome,PIK3C2A,Pik3c2a<tm1b(EUCOMM)Hmgu> het early,25.52,HP:0001744,"MP:0000219,MP:0000702,MP:0005016"
+1443,OMIM:618440,Oculoskeletodental Syndrome,PIK3C2A,Pik3c2a<tm1b(EUCOMM)Hmgu> hom embryo,17.695,HP:0004322,MP:0003984
+1444,OMIM:618449,"Ciliary Dyskinesia, Primary, 41",GAS2L2,Gas2l2<tm1a(KOMP)Wtsi> hom early,52.11,"HP:0012208,HP:0000789,HP:0000403","MP:0001925,MP:0001926,MP:0004738"
+1445,OMIM:618459,Immunodeficiency 62,ARHGEF1,Arhgef1<tm1a(EUCOMM)Wtsi> hom early,56.205,"HP:0001973,HP:0030381,HP:0010976,HP:0030374","MP:0005564,MP:0008079,MP:0013417,MP:0013666,MP:0013669,MP:0013433,MP:0008346,MP:0010850,MP:0013025,MP:0012767,MP:0008074,MP:0008127,MP:0010835,MP:0000220,MP:0010838,MP:0013673,MP:0013522,MP:0008182,MP:0003131,MP:0008524,MP:0013679,MP:0002608"
+1446,OMIM:618462,"Bleeding Disorder, Platelet-Type, 22",EPHB2,Ephb2<em1(IMPC)Mbp> hom early,15.585,HP:0001873,"MP:0000692,MP:0000691"
+1447,OMIM:618468,Developmental And Epileptic Encephalopathy 76,ACTL6B,Actl6b<em1(IMPC)J> het early,34.19,HP:0010841,MP:0004738
+1448,OMIM:618494,"Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies",ATN1,Atn1<tm1b(EUCOMM)Wtsi> hom early,37.54,"HP:0001629,HP:0001631,HP:0002540,HP:0001627,HP:0001655","MP:0001406,MP:0000266"
+1449,OMIM:618495,Immunodeficiency 63 With Lymphoproliferation And Autoimmunity,IL2RB,Il2rb<tm1b(EUCOMM)Hmgu> hom early,14.85,HP:0000403,MP:0002102
+1450,OMIM:618497,Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements,CACNA1B,Cacna1b<tm1b(KOMP)Wtsi> hom early,45.82,"HP:0001266,HP:0003763,HP:0002540,HP:0012171","MP:0001406,MP:0001364,MP:0020870,MP:0001392,MP:0001399"
+1451,OMIM:618501,Cerebellar Atrophy With Seizures And Variable Developmental Delay,CACNA2D2,Cacna2d2<em1(IMPC)Mbp> hom early,47.06,"HP:0002540,HP:0002066,HP:0001310,HP:0002072,HP:0001251","MP:0000745,MP:0001406"
+1452,OMIM:618504,"Intellectual Developmental Disorder, Autosomal Recessive 71",ALKBH8,Alkbh8<tm1b(EUCOMM)Hmgu> hom early,22.725,"HP:0000054,HP:0000122",MP:0002135
+1453,OMIM:618506,Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies,SOX4,Sox4<em1(IMPC)Mbp> hom embryo,26.025,HP:0001629,MP:0000266
+1454,OMIM:618523,"Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections",IL6ST,Il6st<tm1b(KOMP)Mbp> het early,16.345,HP:0001880,MP:0005641
+1455,OMIM:618529,"Robinow Syndrome, Autosomal Recessive 2",NXN,Nxn<tm1b(EUCOMM)Wtsi> het early,40.22,"HP:0003196,HP:0001852,HP:0000431,HP:0010055,HP:0000347,HP:0030084,HP:0000527,HP:0001212,HP:0012385,HP:0003027,HP:0001156,HP:0011304","MP:0001340,MP:0002764,MP:0000443,MP:0002110,MP:0000627"
+1456,OMIM:618529,"Robinow Syndrome, Autosomal Recessive 2",NXN,Nxn<tm1b(EUCOMM)Wtsi> hom embryo,41.24,"HP:0000207,HP:0010292,HP:0000185,HP:0000212,HP:0000164,HP:0000343,HP:0002007","MP:0000111,MP:0011495,MP:0008797"
+1457,OMIM:618529,"Robinow Syndrome, Autosomal Recessive 2",NXN,Nxn<em1(IMPC)J> hom embryo,40.31,"HP:0000207,HP:0000185,HP:0010292,HP:0000164,HP:0000212,HP:0000343","MP:0000111,MP:0008797"
+1458,OMIM:618529,"Robinow Syndrome, Autosomal Recessive 2",NXN,Nxn<em1(IMPC)Bay> hom embryo,30.575,"HP:0000185,HP:0002007","MP:0011495,MP:0008797"
+1459,OMIM:618535,"Ectodermal Dysplasia 15, Hypohidrotic/Hair Type",CST6,Cst6<em1(IMPC)Ccpcz> het early,13.025,HP:0000982,MP:0002110
+1460,OMIM:618548,Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4,PIGQ,Pigq<tm2b(EUCOMM)Wtsi> het early,22.47,HP:0000483,MP:0011960
+1461,OMIM:618548,Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4,PIGQ,Pigq<tm2b(EUCOMM)Wtsi> hom embryo,26.515,"HP:0001561,HP:0009909","MP:0009806,MP:0001785"
+1462,OMIM:618557,Developmental And Epileptic Encephalopathy 78,GABRA2,Gabra2<em1(IMPC)H> hom early,27.645,HP:0002540,MP:0001402
+1463,OMIM:618557,Developmental And Epileptic Encephalopathy 78,GABRA2,Gabra2<em1(IMPC)H> hom late,28.515,HP:0002540,MP:0001402
+1464,OMIM:618590,"Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis",PIGU,Pigu<tm1b(EUCOMM)Hmgu> het early,41.065,HP:0000238,MP:0001891
+1465,OMIM:618596,"Epilepsy, Idiopathic Generalized, Susceptibility To, 16",KCNMA1,Kcnma1<em1(IMPC)H> hom early,42.2,HP:0007166,MP:0000745
+1466,OMIM:618624,Noonan Syndrome 12,RRAS2,Rras2<em1(IMPC)Ccpcz> hom early,37.705,"HP:0000824,HP:0001873,HP:0001888","MP:0000703,MP:0000709,MP:0008044"
+1467,OMIM:618625,"Rothmund-Thomson Syndrome, Type 1",ANAPC1,Anapc1<em1(IMPC)J> het late,42.1,HP:0001118,MP:0001303
+1468,OMIM:618641,Infantile Liver Failure Syndrome 3,RINT1,Rint1<tm1b(KOMP)Wtsi> het early,27.99,HP:0001987,"MP:0005567,MP:0005419,MP:0005344,MP:0000195"
+1469,OMIM:618643,Spermatogenic Failure 39,DNAH17,Dnah17<tm1e(KOMP)Wtsi> hom early,70.84,"HP:0032558,HP:0032562,HP:0012207,HP:0032559,HP:0032560,HP:0000798,HP:0003251",MP:0001925
+1470,OMIM:618651,Halperin-Birk Syndrome,SEC31A,Sec31a<em3(IMPC)H> het early,25.42,HP:0002540,MP:0001392
+1471,OMIM:618653,Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies,DDX6,Ddx6<em1(IMPC)Mbp> het early,19.495,"HP:0000076,HP:0000054,HP:0000126,HP:0000125",MP:0002135
+1472,OMIM:618665,"Intellectual Developmental Disorder, Autosomal Recessive 72",METTL5,Mettl5<em1(IMPC)Hmgu> het early,14.085,"HP:0000358,HP:0000400,HP:0000369",MP:0004738
+1473,OMIM:618665,"Intellectual Developmental Disorder, Autosomal Recessive 72",METTL5,Mettl5<em1(IMPC)Hmgu> hom early,28.77,"HP:0000718,HP:0007018,HP:0000358,HP:0000369,HP:0000400","MP:0001364,MP:0004738,MP:0020870"
+1474,OMIM:618683,"Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6",ATP5MK,Atp5mk<tm1b(EUCOMM)Wtsi> hom early,29.61,HP:0001251,MP:0001406
+1475,OMIM:618688,"Leukodystrophy, Hypomyelinating, 19, Transient Infantile",TMEM63A,Tmem63a<tm1(KOMP)Vlcg> hom early,32.915,"HP:0001251,HP:0001310",MP:0001406
+1476,OMIM:618697,Retinitis Pigmentosa 87 With Choroidal Involvement,RPE65,Rpe65<tm1a(EUCOMM)Hmgu> hom early,47.09,"HP:0000533,HP:0030505,HP:0007737,HP:0000580","MP:0001317,MP:0006243,MP:0001325"
+1477,OMIM:618709,Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures,DLL1,Dll1<tm1Gos> het early,48.86,"HP:0001251,HP:0007018,HP:0000733","MP:0002757,MP:0001362,MP:0001399,MP:0002862"
+1478,OMIM:618721,Developmental And Epileptic Encephalopathy 82,GOT2,Got2<em1(IMPC)Mbp> het embryo,21.125,HP:0004322,MP:0003984
+1479,OMIM:618721,Developmental And Epileptic Encephalopathy 82,GOT2,Got2<em1(IMPC)Mbp> hom embryo,19.645,HP:0004322,MP:0003984
+1480,OMIM:618723,Premature Ovarian Failure 16,BNC1,Bnc1<em1(IMPC)H> hom early,42.58,"HP:0008209,HP:0033085",MP:0001926
+1481,OMIM:618723,Premature Ovarian Failure 16,BNC1,Bnc1<em1(IMPC)H> hom late,24.795,"HP:0008209,HP:0033085,HP:0008214,HP:0008232","MP:0001147,MP:0002059"
+1482,OMIM:618724,Heyn-Sproul-Jackson Syndrome,DNMT3A,Dnmt3a<tm1b(KOMP)Wtsi> het early,19.405,HP:0004325,MP:0003961
+1483,OMIM:618724,Heyn-Sproul-Jackson Syndrome,DNMT3A,Dnmt3a<tm1b(KOMP)Wtsi> hom embryo,23.76,HP:0001511,MP:0001697
+1484,OMIM:618729,Liang-Wang Syndrome,KCNMA1,Kcnma1<em1(IMPC)H> hom early,32.82,"HP:0001251,HP:0001332","MP:0000745,MP:0001406,MP:0001392"
+1485,OMIM:618733,Neuromuscular Oculoauditory Syndrome,DHX16,Dhx16<tm1b(EUCOMM)Wtsi> het early,26.19,"HP:0007858,HP:0007814",MP:0010097
+1486,OMIM:618748,Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities,CDK8,Cdk8<tm1b(EUCOMM)Hmgu> het early,21.58,HP:0007018,"MP:0001417,MP:0020420"
+1487,OMIM:618748,Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities,CDK8,Cdk8<tm1b(EUCOMM)Hmgu> hom embryo,25.895,"HP:0001655,HP:0001629,HP:0001636,HP:0004383",MP:0000266
+1488,OMIM:618776,"Mitochondrial Complex I Deficiency, Nuclear Type 34",NDUFAF8,Ndufaf8<em1(IMPC)Bay> het embryo,40.895,HP:0001511,"MP:0003984,MP:0001697"
+1489,OMIM:618776,"Mitochondrial Complex I Deficiency, Nuclear Type 34",NDUFAF8,Ndufaf8<em1(IMPC)Bay> hom embryo,39.035,HP:0001511,"MP:0003984,MP:0001697"
+1490,OMIM:618805,Triokinase And Fmn Cyclase Deficiency Syndrome,TKFC,Tkfc<em1(IMPC)Ccpcz> hom early,33.51,"HP:0001733,HP:0000568,HP:0001397,HP:0001644,HP:0002240,HP:0001935","MP:0000703,MP:0000689,MP:0001333,MP:0000274,MP:0000709,MP:0000691,MP:0000266"
+1491,OMIM:618806,"T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant",FOXN1,Foxn1<tm1.1(KOMP)Vlcg> hom early,22.685,"HP:0005403,HP:0031545","MP:0000703,MP:0000705"
+1492,OMIM:618808,Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia,ABCA2,Abca2<em1(IMPC)J> hom early,54.265,"HP:0000718,HP:0002286,HP:0003141","MP:0001399,MP:0000367,MP:0001415,MP:0001566"
+1493,OMIM:618811,Mitochondrial Dna Depletion Syndrome 18,SLC25A21,Slc25a21<tm1a(KOMP)Wtsi> hom early,34.715,"HP:0002650,HP:0001508","MP:0001262,MP:0004609"
+1494,OMIM:618811,Mitochondrial Dna Depletion Syndrome 18,SLC25A21,Slc25a21<tm1d(KOMP)Wtsi> hom early,37.115,"HP:0001935,HP:0001508","MP:0003961,MP:0005562,MP:0002591"
+1495,OMIM:618821,Rhizomelic Limb Shortening With Dysmorphic Features,PKDCC,Pkdcc<em1(IMPC)Mbp> het early,14.385,HP:0012623,"MP:0002989,MP:0002135"
+1496,OMIM:618821,Rhizomelic Limb Shortening With Dysmorphic Features,PKDCC,Pkdcc<em1(IMPC)Mbp> hom embryo,48.725,"HP:0001655,HP:0001357,HP:0008905","MP:0000288,MP:0003984,MP:0011495,MP:0000266"
+1497,OMIM:618828,"Nabais Sa-De Vries Syndrome, Type 1",SPOP,Spop<tm1b(KOMP)Wtsi> het early,27.69,HP:0100716,MP:0011940
+1498,OMIM:618829,"Nabais Sa-De Vries Syndrome, Type 2",SPOP,Spop<tm1b(KOMP)Wtsi> het early,18.395,HP:0000821,MP:0002768
+1499,OMIM:618835,Combined Oxidative Phosphorylation Deficiency 40,QRSL1,Qrsl1<em1(IMPC)J> hom early,23.195,HP:0003811,MP:0011100
+1500,OMIM:618846,Diets-Jongmans Syndrome,KDM3B,Kdm3b<em1(IMPC)Tcp> het early,22.71,"HP:0000718,HP:0007018,HP:0001385","MP:0000157,MP:0001417"
+1501,OMIM:618851,Combined Oxidative Phosphorylation Deficiency 43,TIMM22,Timm22<tm1b(KOMP)Wtsi> het early,22.935,HP:0003236,MP:0005633
+1502,OMIM:618856,"Diabetes Mellitus, Permanent Neonatal, 2",KCNJ11,Kcnj11<tm1b(EUCOMM)Wtsi> hom early,45.195,"HP:0003074,HP:0100651","MP:0013278,MP:0005293"
+1503,OMIM:618857,"Diabetes Mellitus, Permanent Neonatal, 3",ABCC8,Abcc8<em1(IMPC)J> hom early,45.815,"HP:0003074,HP:0003076,HP:0001518,HP:0100651","MP:0003960,MP:0005293"
+1504,OMIM:618863,Retinal Dystrophy With Leukodystrophy,ACBD5,Acbd5<tm1b(EUCOMM)Wtsi> hom early,37.835,"HP:0030147,HP:0002527,HP:0001310,HP:0002515","MP:0001406,MP:0001513"
+1505,OMIM:618868,"Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline",SLC44A1,Slc44a1<tm1b(EUCOMM)Hmgu> hom early,28.855,"HP:0000648,HP:0002015,HP:0002073","MP:0003731,MP:0010097,MP:0002574,MP:0001399,MP:0011965"
+1506,OMIM:618872,Nizon-Isidor Syndrome,MED12L,Med12l<em1(IMPC)J> hom early,36.29,"HP:0000612,HP:0045075","MP:0002075,MP:0001319"
+1507,OMIM:618873,Lissencephaly 10,CEP85L,Cep85l<em1(IMPC)Mbp> hom early,40.31,"HP:0000716,HP:0002353,HP:0000718,HP:0000473","MP:0001489,MP:0001364,MP:0001486,MP:0004738,MP:0020870"
+1508,OMIM:618880,"Glaucoma, Primary Closed-Angle",COL18A1,Col18a1<tm1.1(KOMP)Vlcg> hom early,52.045,"HP:0011483,HP:0012796","MP:0005102,MP:0010097,MP:0001325,MP:0001319,MP:0001303,MP:0008259,MP:0002792,MP:0006241"
+1509,OMIM:618890,Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity,PTPN23,Ptpn23<tm1b(EUCOMM)Hmgu> het early,22.675,HP:0000609,MP:0001325
+1510,OMIM:618906,"Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures",TANC2,Tanc2<em1(IMPC)Hmgu> hom early,47.9,"HP:0002497,HP:0001363,HP:0007018,HP:0000733","MP:0001392,MP:0001399,MP:0003795,MP:0001415"
+1511,OMIM:618912,"Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8",SORD,Sord<em1(IMPC)Ccpcz> hom early,32.31,HP:0033124,MP:0005565
+1512,OMIM:618922,"Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities",GRM7,Grm7<em1(IMPC)H> hom early,25.39,"HP:0000742,HP:0002015","MP:0001364,MP:0001399"
+1513,OMIM:618935,"Granulomatous Disease, Chronic, Autosomal Recessive, 5",CYBC1,Cybc1<tm1a(KOMP)Wtsi> hom early,22.245,"HP:0001433,HP:0001878,HP:0003203,HP:0001888,HP:0001744",MP:0005505
+1514,OMIM:618939,Treacher Collins Syndrome 4,POLR1B,Polr1b<em1(IMPC)Tcp> het early,33.505,"HP:0000175,HP:0000347,HP:0000272",MP:0002100
+1515,OMIM:618944,"Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections",IL6R,Il6ra<em1(IMPC)Wtsi> hom early,18.3,HP:0030388,MP:0010067
+1516,OMIM:618947,Arthrogryposis Multiplex Congenita 5,TOR1A,Tor1a<em1(IMPC)H> het early,28.61,HP:0001695,MP:0010506
+1517,OMIM:618960,Mitchell Syndrome,ACOX1,Acox1<em1(IMPC)Bay> hom early,23.275,HP:0002015,MP:0020870
+1518,OMIM:618963,Immunodeficiency 69,IFNG,Ifng<tm1.1(KOMP)Vlcg> het early,42.49,"HP:0012156,HP:0001903,HP:0001433,HP:0001876,HP:0001894,HP:0001974,HP:0001744",MP:0002608
+1519,OMIM:618974,Li-Ghorbani-Weisz-Hubshman Syndrome,KAT8,Kat8<em1(IMPC)Mbp> het early,24.59,HP:0007018,MP:0020870
+1520,OMIM:618986,Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia,RAC2,Rac2<em1(IMPC)Mbp> hom early,17.315,HP:0001433,MP:0000598
+1521,OMIM:619011,Oocyte/Zygote/Embryo Maturation Arrest 9,TRIP13,Trip13<tm1.1(KOMP)Vlcg> hom early,62.16,"HP:0008222,HP:0000140,HP:0031516","MP:0001925,MP:0001926"
+1522,OMIM:619011,Oocyte/Zygote/Embryo Maturation Arrest 9,TRIP13,Trip13<em1(IMPC)J> hom early,76.635,"HP:0008222,HP:0000140,HP:0031516","MP:0001925,MP:0001926"
+1523,OMIM:619013,Rajab Interstitial Lung Disease With Brain Calcifications 2,FARSA,Farsa<tm2a(EUCOMM)Wtsi> het early,28.04,"HP:0001433,HP:0040075,HP:0000821,HP:0002155,HP:0001382,HP:0003073,HP:0001935","MP:0003020,MP:0002079,MP:0005634,MP:0000063,MP:0000221"
+1524,OMIM:619027,"Spastic Paraplegia 83, Autosomal Recessive",HPDL,Hpdl<em1(IMPC)Mbp> het early,28.5,HP:0002015,"MP:0001364,MP:0020870"
+1525,OMIM:619042,"Spinal Muscular Atrophy, Infantile, James Type",GARS1,Gars1<em1(IMPC)Tcp> het early,19.44,HP:0003273,MP:0000157
+1526,OMIM:619046,"Mitochondrial Complex Iv Deficiency, Nuclear Type 3",COX10,Cox10<em1(IMPC)Bay> het early,22.11,"HP:0008358,HP:0003348","MP:0001556,MP:0005178"
+1527,OMIM:619051,"Mitochondrial Complex Iv Deficiency, Nuclear Type 7",COX6B1,Cox6b1<em1(IMPC)Tcp> het early,23.365,"HP:0005180,HP:0001640,HP:0002092,HP:0001639","MP:0004122,MP:0004952"
+1528,OMIM:619051,"Mitochondrial Complex Iv Deficiency, Nuclear Type 7",COX6B1,Cox6b1<em1(IMPC)Tcp> hom embryo,20.315,HP:0001511,MP:0001697
+1529,OMIM:619054,"Mitochondrial Complex Iv Deficiency, Nuclear Type 11",COX20,Cox20<em1(IMPC)Tcp> het early,31.965,"HP:0001266,HP:0002451,HP:0000473",MP:0001488
+1530,OMIM:619056,Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies,SETD1A,Setd1a<tm1a(EUCOMM)Wtsi> het early,24.725,"HP:0001513,HP:0001382,HP:0001363","MP:0010123,MP:0003960,MP:0000062"
+1531,OMIM:619057,Combined Oxidative Phosphorylation Deficiency 51,PTCD3,Ptcd3<tm1.1(KOMP)Vlcg> het early,27.78,HP:0000648,MP:0006243
+1532,OMIM:619059,"Mitochondrial Complex Iv Deficiency, Nuclear Type 15",COX8A,Cox8a<em1(IMPC)Marc> hom early,37.71,"HP:0003348,HP:0002154,HP:0000580","MP:0001325,MP:0000198,MP:0001552"
+1533,OMIM:619071,"Leukodystrophy, Hypomyelinating, 20",CNP,Cnp<tm1b(EUCOMM)Wtsi> hom early,35.09,HP:0000737,MP:0020870
+1534,OMIM:619094,Spermatogenic Failure 45,DNAH2,Dnah2<em1(IMPC)Tcp> hom early,60.18,"HP:0032558,HP:0032559,HP:0032560,HP:0012207,HP:0003251","MP:0001925,MP:0002059"
+1535,OMIM:619112,"Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13",BSCL2,Bscl2<tm1b(EUCOMM)Hmgu> hom early,47.16,"HP:0009053,HP:0001761,HP:0001288","MP:0001406,MP:0001402,MP:0002764"
+1536,OMIM:619120,Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2,COL1A2,Col1a2<tm1b(EUCOMM)Wtsi> hom early,19.235,"HP:0001382,HP:0002757",MP:0000062
+1537,OMIM:619122,Vertebral Hypersegmentation And Orofacial Anomalies,GDF11,Gdf11<tm2b(EUCOMM)Hmgu> hom embryo,40.32,"HP:0100334,HP:0000176,HP:0100333",MP:0000111
+1538,OMIM:619123,Cardiofacioneurodevelopmental Syndrome,CCDC32,Ccdc32<em1(IMPC)J> het early,14.74,HP:0001746,MP:0000221
+1539,OMIM:619127,Mandibuloacral Dysplasia Progeroid Syndrome,MTX2,Mtx2<em1(IMPC)J> het early,33.89,"HP:0001371,HP:0040217,HP:0009771,HP:0000938,HP:0001952,HP:0001387","MP:0000221,MP:0000062,MP:0005560"
+1540,OMIM:619130,Thrombocytopenia 7,IKZF5,Ikzf5<tm1(KOMP)Wtsi> hom early,23.57,"HP:0033536,HP:0033535,HP:0001873",MP:0012362
+1541,OMIM:619131,"Osteogenesis Imperfecta, Type Xxi",KDELR2,Kdelr2<em1(IMPC)Bay> het early,28.43,HP:0000939,MP:0003795
+1542,OMIM:619132,Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8,CYLD,Cyld<em2(IMPC)Marc> hom early,34.585,"HP:0000726,HP:0002354,HP:0002145",MP:0001417
+1543,OMIM:619151,"Amed Syndrome, Digenic",ADH5,Adh5<tm1b(EUCOMM)Wtsi> hom early,24.715,HP:0007018,MP:0001417
+1544,OMIM:619155,"Nephrotic Syndrome, Type 22",NOS1AP,Nos1ap<tm1b(KOMP)Wtsi> hom early,38.94,"HP:0000096,HP:0003774,HP:0003075,HP:0002907,HP:0000100,HP:0012593","MP:0002942,MP:0000538"
+1545,OMIM:619165,"Oculocutaneous Albinism, Type Viii",DCT,Dct<tm1b(KOMP)Mbp> hom early,55.575,"HP:0005599,HP:0001010,HP:0012805",MP:0002075
+1546,OMIM:619172,Hermansky-Pudlak Syndrome 11,BLOC1S5,Bloc1s5<em1(IMPC)Tcp> hom early,62.55,"HP:0002286,HP:0000995,HP:0001022,HP:0007750,HP:0012805,HP:0001107","MP:0005102,MP:0001322,MP:0010097,MP:0001325,MP:0011239,MP:0002075"
+1547,OMIM:619174,"Deafness, Autosomal Recessive 117",CLRN2,Clrn2<em1(IMPC)J> hom early,28.22,HP:0000407,MP:0004738
+1548,OMIM:619177,Spermatogenic Failure 51,CFAP91,Cfap91<em1(IMPC)Mbp> hom early,40.5,"HP:0032558,HP:0033525,HP:0032561,HP:0025437,HP:0012207,HP:0032559,HP:0032560,HP:0033393,HP:0000798","MP:0001147,MP:0001146,MP:0001925"
+1549,OMIM:619179,"Microcephaly 26, Primary, Autosomal Dominant",LMNB1,Lmnb1<tm1a(EUCOMM)Wtsi> het early,30.03,HP:0001508,MP:0001262
+1550,OMIM:619185,Joubert Syndrome 37,TOGARAM1,Togaram1<em1(IMPC)J> hom embryo,48.285,"HP:0000568,HP:0100259","MP:0001297,MP:0000562,MP:0001293,MP:0005650"
+1551,OMIM:619189,Li-Campeau Syndrome,UBR7,Ubr7<em1(IMPC)Tcp> hom early,32.765,HP:0003065,MP:0002764
+1552,OMIM:619202,Spermatogenic Failure 52,C14orf39,4930447C04Rik<em1(IMPC)Bay> hom early,60.395,"HP:0003251,HP:0000027","MP:0001925,MP:0001926"
+1553,OMIM:619203,Premature Ovarian Failure 18,C14orf39,4930447C04Rik<em1(IMPC)Bay> hom early,37.165,"HP:0008209,HP:0000858,HP:0000869,HP:0008724","MP:0001925,MP:0001926"
+1554,OMIM:619224,"Mitochondrial Complex Ii Deficiency, Nuclear Type 4",SDHB,Sdhb<tm1b(EUCOMM)Hmgu> het early,31.565,"HP:0012402,HP:0002527,HP:0001251","MP:0002135,MP:0001402"
+1555,OMIM:619228,Developmental Delay With Dysmorphic Facies And Dental Anomalies,SATB1,Satb1<tm1b(EUCOMM)Hmgu> het early,43.05,HP:0002353,MP:0004738
+1556,OMIM:619229,Den Hoed-De Boer-Voisin Syndrome,SATB1,Satb1<tm1b(EUCOMM)Hmgu> het early,32.245,"HP:0010841,HP:0011197,HP:0000736,HP:0000733,HP:0002015,HP:0000358,HP:0012171,HP:0002521,HP:0002353,HP:0000713","MP:0001399,MP:0004738,MP:0001415"
+1557,OMIM:619232,"Hypercholanemia, Familial 3",BAAT,Baat<em1(IMPC)Mbp> hom early,28.8,HP:0002908,"MP:0005179,MP:0002968,MP:0000186,MP:0001552"
+1558,OMIM:619234,"Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay",POLR3GL,Polr3gl<em1(IMPC)Bay> hom embryo,12.265,HP:0001537,MP:0001697
+1559,OMIM:619243,Global Developmental Delay With Speech And Behavioral Abnormalities,TNRC6B,Tnrc6b<em1(IMPC)Bay> hom early,25.43,"HP:0001382,HP:0007018","MP:0020870,MP:0000063"
+1560,OMIM:619244,Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism,TTC5,Ttc5<em1(IMPC)Rbrc> het early,29.375,HP:0002808,"MP:0004599,MP:0000137"
+1561,OMIM:619245,Premature Ovarian Failure 19,HSF2BP,Hsf2bp<tm1b(EUCOMM)Hmgu> hom early,34.715,"HP:0008209,HP:0000858,HP:0000869,HP:0008222",MP:0001147
+1562,OMIM:619248,Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia,COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,15.005,"HP:0001156,HP:0005920",MP:0002109
+1563,OMIM:619256,"Hypercholanemia, Familial, 2",SLC10A1,Slc10a1<em1(IMPC)Mbp> hom early,32.505,HP:0006579,"MP:0009342,MP:0005084,MP:0000598"
+1564,OMIM:619259,Neurodegeneration With Ataxia And Late-Onset Optic Atrophy,SDHA,Sdha<tm2b(KOMP)Wtsi> het early,28.48,HP:0000716,MP:0020870
+1565,OMIM:619273,Cimdag Syndrome,VPS4A,Vps4a<tm1b(EUCOMM)Hmgu> het early,39.785,"HP:0000519,HP:0002240,HP:0001414,HP:0001081","MP:0001304,MP:0001303,MP:0004952,MP:0000691"
+1566,OMIM:619273,Cimdag Syndrome,VPS4A,Vps4a<tm1b(EUCOMM)Hmgu> het embryo,23.405,HP:0001332,MP:0001491
+1567,OMIM:619273,Cimdag Syndrome,VPS4A,Vps4a<tm1b(EUCOMM)Hmgu> hom embryo,23.205,HP:0001332,MP:0001491
+1568,OMIM:619278,"Microcephaly, Epilepsy, And Diabetes Syndrome 2",YIPF5,Yipf5<tm1b(EUCOMM)Hmgu> het early,25.225,HP:0040217,MP:0002875
+1569,OMIM:619279,Parkinsonism With Polyneuropathy,UQCRC1,Uqcrc1<em1(IMPC)Bay> het early,36.57,HP:0000716,MP:0001417
+1570,OMIM:619290,Mahvash Disease,GCGR,Gcgr<tm1.1(KOMP)Vlcg> hom early,41.075,"HP:0100027,HP:0005978,HP:4000061,HP:0030688","MP:0002727,MP:0013278,MP:0002981,MP:0005292"
+1571,OMIM:619293,Blepharophimosis-Impaired Intellectual Development Syndrome,SMARCA2,Smarca2<em1(IMPC)J> hom early,38.975,"HP:0000744,HP:0100025,HP:0007018,HP:0000733",MP:0001399
+1572,OMIM:619297,Kinsship Syndrome,AFF3,Aff3<tm1a(EUCOMM)Wtsi> het early,26.55,"HP:0000470,HP:0002650,HP:0000960",MP:0004599
+1573,OMIM:619297,Kinsship Syndrome,AFF3,Aff3<tm1a(EUCOMM)Wtsi> hom early,33.54,"HP:0000219,HP:0000179,HP:0000938,HP:0002827,HP:0002714,HP:0000470,HP:0010296,HP:0000303,HP:0000154,HP:0000960,HP:0000212,HP:0000319,HP:0000322,HP:0003083,HP:0000347,HP:0002650,HP:0000687","MP:0004613,MP:0002100,MP:0003036,MP:0004599,MP:0005358"
+1574,OMIM:619301,"Pontocerebellar Hypoplasia, Type 14",PPIL1,Ppil1<em1(IMPC)Mbp> het early,15.575,"HP:0001873,HP:0410252",MP:0000692
+1575,OMIM:619313,Immunodeficiency 80 With Or Without Congenital Cardiomyopathy,MCM10,Mcm10<tm1(NCOM)Cmhd> het early,27.415,"HP:0002155,HP:0003281",MP:0002942
+1576,OMIM:619323,Neurodevelopmental Disorder With Seizures And Gingival Overgrowth,TBC1D2B,Tbc1d2b<tm1a(EUCOMM)Hmgu> hom early,30.22,"HP:0001350,HP:0002066",MP:0000745
+1577,OMIM:619325,Coffin-Siris Syndrome 12,BICRA,Bicra<em1(IMPC)J> hom embryo,27.31,HP:0030148,MP:0001914
+1578,OMIM:619326,Bdv Syndrome,CPE,Cpe<tm1b(EUCOMM)Hmgu> hom early,36.49,"HP:0000842,HP:0000786,HP:0000044,HP:0005978","MP:0001925,MP:0005559,MP:0005293,MP:0013279"
+1579,OMIM:619328,"Leukodystrophy, Hypomyelinating, 22",CLDN11,Cldn11<em1(IMPC)H> hom early,37.67,HP:0002540,MP:0001406
+1580,OMIM:619339,Bartsocas-Papas Syndrome 2,CHUK,Chuk<em1(IMPC)Ccpcz> het early,48.35,"HP:0000568,HP:0100337,HP:0000347,HP:0000191,HP:0100336","MP:0001297,MP:0013129,MP:0002100"
+1581,OMIM:619339,Bartsocas-Papas Syndrome 2,CHUK,Chuk<em1(IMPC)Ccpcz> hom embryo,14.14,"HP:0005650,HP:0005807,HP:0200055",MP:0002109
+1582,OMIM:619362,Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3,LMOD1,Lmod1<em1(IMPC)J> hom early,22.895,HP:0003811,MP:0011110
+1583,OMIM:619369,Lymphatic Malformation 10,ANGPT2,Angpt2<em1(IMPC)Mbp> hom early,37.065,HP:0000034,"MP:0001157,MP:0000703,MP:0000706"
+1584,OMIM:619379,Spermatogenic Failure 54,CATIP,Catip<tm1b(KOMP)Wtsi> hom early,70.44,"HP:0003251,HP:0032562,HP:0012207,HP:0033524,HP:0032559,HP:0032560,HP:0000798,HP:0030974",MP:0001925
+1585,OMIM:619380,Spermatogenic Failure 55,SPAG17,Spag17<tm1b(KOMP)Wtsi> hom early,77.39,"HP:0012207,HP:0003251",MP:0001925
+1586,OMIM:619381,Immunodeficiency 82 With Systemic Inflammation,SYK,Syk<tm1b(EUCOMM)Hmgu> het early,13.47,HP:0001824,MP:0003961
+1587,OMIM:619402,"Cardiomyopathy, Familial Hypertrophic, 28",FHOD3,Fhod3<em1(IMPC)Mbp> hom embryo,37.09,"HP:0001670,HP:4000004,HP:0031992,HP:0031295,HP:0005157",MP:0000266
+1588,OMIM:619406,Hypokalemic Tubulopathy And Deafness,KCNJ16,Kcnj16<tm1Sjtu> hom early,23.305,HP:0001251,MP:0000745
+1589,OMIM:619407,Whim Syndrome 2,CXCR2,Cxcr2<tm1a(EUCOMM)Wtsi> hom early,64.72,HP:0410252,"MP:0013022,MP:0010067,MP:0013523,MP:0013154,MP:0008079,MP:0013157,MP:0005505,MP:0008346,MP:0008209,MP:0013654,MP:0010850,MP:0005017,MP:0008215,MP:0008211,MP:0005011,MP:0013025,MP:0005562,MP:0013427,MP:0013418,MP:0000219,MP:0010835,MP:0000220,MP:0010838,MP:0000218,MP:0013772,MP:0005018,MP:0000322,MP:0011816"
+1590,OMIM:619422,"Spinocerebellar Ataxia, Autosomal Recessive 31",ATG7,Atg7<em1(IMPC)Ccpcz> het early,34.845,"HP:0000648,HP:0000488",MP:0001325
+1591,OMIM:619424,"Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy",MYL2,Myl2<tm1b(EUCOMM)Hmgu> het early,32.04,HP:0003236,MP:0002966
+1592,OMIM:619426,White-Kernohan Syndrome,DDB1,Ddb1<em1(IMPC)Ccpcz> het early,34.225,"HP:0007018,HP:0000072,HP:0000085,HP:0000126","MP:0011874,MP:0001399,MP:0000538"
+1593,OMIM:619437,Immunodeficiency 84,IKZF3,Ikzf3<tm1(KOMP)Vlcg> hom early,55.625,"HP:0010976,HP:0009789,HP:0001744","MP:0012361,MP:0003179,MP:0005016,MP:0000221,MP:0000219"
+1594,OMIM:619451,"Cutis Laxa, Autosomal Recessive, Type Iie",LTBP1,Ltbp1<tm1a(EUCOMM)Wtsi> hom early,45.375,"HP:0000179,HP:0001363,HP:0001159,HP:0002827,HP:0002553,HP:0000343,HP:0000431,HP:0003300,HP:0001382,HP:0002650,HP:0004209,HP:0000527,HP:0002938,HP:0006191,HP:0001156,HP:0000218,HP:0002970","MP:0000443,MP:0002100,MP:0004609,MP:0005108,MP:0000552,MP:0002075,MP:0005358"
+1595,OMIM:619464,Sick Sinus Syndrome 4,GNB2,Gnb2<em1(IMPC)J> hom early,55.54,"HP:0001279,HP:0031593,HP:0001678,HP:0033992,HP:0004757,HP:0012723,HP:0031547,HP:0001645,HP:0025074,HP:0001688","MP:0010571,MP:0010507,MP:0002626"
+1596,OMIM:619467,"Usmani-Riazuddin Syndrome, Autosomal Dominant",AP1G1,Ap1g1<tm1b(EUCOMM)Hmgu> het early,50.635,"HP:0000718,HP:0000752,HP:0000722,HP:0100716,HP:0000716","MP:0002574,MP:0001399"
+1597,OMIM:619470,Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities,TMEM222,Tmem222<tm1b(KOMP)Mbp> het early,30.775,"HP:0000648,HP:0001337",MP:0006243
+1598,OMIM:619471,Bardet-Biedl Syndrome 20,IFT172,Ift172<tm2b(EUCOMM)Hmgu> het early,37.235,"HP:0012841,HP:0100259,HP:0001085,HP:0004691,HP:0001162,HP:0000510,HP:0001841","MP:0010097,MP:0002110"
+1599,OMIM:619471,Bardet-Biedl Syndrome 20,IFT172,Ift172<tm2b(EUCOMM)Hmgu> hom embryo,20.93,HP:0001631,"MP:0000288,MP:0000266"
+1600,OMIM:619472,Viss Syndrome,IPO8,Ipo8<tm1.1(KOMP)Vlcg> het early,11.925,HP:0032061,MP:0005561
+1601,OMIM:619472,Viss Syndrome,IPO8,Ipo8<tm1.1(KOMP)Vlcg> hom early,24.885,HP:0000541,"MP:0008259,MP:0010097"
+1602,OMIM:619475,"Developmental Delay, Impaired Speech, And Behavioral Abnormalities",SPTBN1,Sptbn1<tm1a(EUCOMM)Wtsi> het early,28.9,"HP:0001513,HP:0001508,HP:0025502,HP:0002904,HP:0004325","MP:0005419,MP:0001262"
+1603,OMIM:619481,"Bile Acid Malabsorption, Primary, 2",SLC51B,Slc51b<em1(IMPC)Mbp> hom early,20.505,"HP:0025321,HP:0006579,HP:0001405,HP:0034048","MP:0002968,MP:0000691,MP:0000689"
+1604,OMIM:619482,"Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction",MYO1H,Myo1h<tm1b(KOMP)Wtsi> het early,16.84,HP:0000020,MP:0011436
+1605,OMIM:619493,"Congenital Disorder Of Glycosylation, Type 2V",EDEM3,Edem3<tm1b(EUCOMM)Hmgu> het early,21.24,HP:0002162,MP:0002075
+1606,OMIM:619503,Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies,GNB2,Gnb2<em1(IMPC)J> hom early,32.745,"HP:0002917,HP:0002527,HP:0030051,HP:0001433,HP:0002901,HP:0003763,HP:0001409,HP:0001878,HP:0002015,HP:0100710,HP:0012172,HP:0000744,HP:0002136,HP:0002140","MP:0010571,MP:0002626,MP:0005419,MP:0005561,MP:0000218,MP:0002574,MP:0010507,MP:0020870,MP:0005567,MP:0001399"
+1607,OMIM:619515,Spermatogenic Failure 56,DNAH10,Dnah10<em1(IMPC)Bay> hom early,75.09,"HP:0032558,HP:0034011,HP:0012207,HP:0032559,HP:0032560,HP:0033393,HP:0000798,HP:0003251",MP:0001925
+1608,OMIM:619518,"Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome",GGPS1,Ggps1<tm1b(EUCOMM)Wtsi> het early,18.115,HP:0003236,"MP:0005178,MP:0001556"
+1609,OMIM:619522,Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities,ZMYM2,Zmym2<em1(IMPC)J> het early,34.965,HP:0002267,MP:0001488
+1610,OMIM:619522,Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities,ZMYM2,Zmym2<em1(IMPC)J> hom embryo,26.835,"HP:0004322,HP:0001511,HP:0001510",MP:0003984
+1611,OMIM:619522,Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities,ZMYM2,Zmym2<em1(IMPC)Bay> hom embryo,19.41,"HP:0001629,HP:0001631","MP:0000288,MP:0000266"
+1612,OMIM:619528,Spermatogenic Failure 57,PNLDC1,Pnldc1<em1(IMPC)Bay> hom early,66.74,"HP:0011961,HP:0003251,HP:0031038",MP:0001925
+1613,OMIM:619531,Cone-Rod Dystrophy 22,TLCD3B,Tlcd3b<em1(IMPC)Bay> hom early,62.295,"HP:0007722,HP:0025159,HP:0007843,HP:0011504,HP:0030631,HP:0030825,HP:0030629","MP:0003731,MP:0011965,MP:0001325"
+1614,OMIM:619534,"Biliary, Renal, Neurologic, And Skeletal Syndrome",IFT56,Ift56<em1(IMPC)J> hom early,18.185,HP:0003811,MP:0011100
+1615,OMIM:619534,"Biliary, Renal, Neurologic, And Skeletal Syndrome",IFT56,Ift56<em1(IMPC)J> hom embryo,37.365,"HP:0100259,HP:0001159,HP:0010442,HP:0000232,HP:0010068,HP:0002040,HP:0000023,HP:0011304","MP:0000562,MP:0000111,MP:0003385"
+1616,OMIM:619548,"Usmani-Riazuddin Syndrome, Autosomal Recessive",AP1G1,Ap1g1<tm1b(EUCOMM)Hmgu> het early,45.62,"HP:0030953,HP:0000718","MP:0001304,MP:0001399,MP:0002574"
+1617,OMIM:619556,"Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies",TNPO2,Tnpo2<tm1b(EUCOMM)Hmgu> hom early,27.185,HP:0000483,MP:0011959
+1618,OMIM:619565,Dystonia 31,AOPEP,Aopep<tm1b(KOMP)Wtsi> hom early,39.73,"HP:0002015,HP:0000716",MP:0020421
+1619,OMIM:619575,Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities,TAOK1,Taok1<em1(IMPC)Tcp> het early,33.98,HP:0001134,"MP:0001304,MP:0001303"
+1620,OMIM:619585,Spermatogenic Failure 58,IFT74,Ift74<tm1b(EUCOMM)Hmgu> hom early,69.51,"HP:0012208,HP:0034011,HP:0032559,HP:0033393,HP:0000798,HP:0003251",MP:0001925
+1621,OMIM:619646,Spermatogenic Failure 60,TERB1,Terb1<tm1b(KOMP)Mbp> het early,28.29,"HP:0011961,HP:0031038",MP:0001126
+1622,OMIM:619652,Immunodeficiency 92,REL,Rel<tm1b(EUCOMM)Wtsi> hom early,28.84,"HP:0030388,HP:0100827,HP:0010976,HP:0001894,HP:0001974",MP:0000223
+1623,OMIM:619653,"Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus",TNR,Tnr<em1(IMPC)Rbrc> hom late,29.6,"HP:0001266,HP:0002540",MP:0003313
+1624,OMIM:619658,"Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss",USP53,Usp53<em1(IMPC)Tcp> hom early,38.08,"HP:0410053,HP:0002901,HP:0000365","MP:0005568,MP:0005344,MP:0004738,MP:0002968,MP:0005178"
+1625,OMIM:619665,Ovarian Dysgenesis 9,SPIDR,Spidr<tm1b(EUCOMM)Hmgu> hom early,33.44,"HP:0008209,HP:0000786,HP:0008724","MP:0001925,MP:0001926"
+1626,OMIM:619672,Spermatogenic Failure 61,STAG3,Stag3<tm1e.1(KOMP)Wtsi> hom early,62.12,"HP:0011961,HP:0031039,HP:0003251","MP:0001147,MP:0001926,MP:0001925"
+1627,OMIM:619681,"Dystonia, Early-Onset, And/Or Spastic Paraplegia",ATP5MC3,Atp5mc3<em1(IMPC)Bay> hom early,43.72,HP:0001288,MP:0001402
+1628,OMIM:619688,"Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy",RNF220,Rnf220<em1(IMPC)Bay> het early,26.485,HP:0001251,MP:0002574
+1629,OMIM:619690,Brunet-Wagner Neurodevelopmental Syndrome,RBL2,Rbl2<tm1b(EUCOMM)Hmgu> het early,30.27,HP:0000648,"MP:0001289,MP:0001325"
+1630,OMIM:619692,"Trichothiodystrophy 9, Nonphotosensitive",MARS1,Mars1<em1(IMPC)Bay> het early,31.665,HP:0001251,MP:0001392
+1631,OMIM:619696,Spermatogenic Failure 64,FBXO43,Fbxo43<em1(IMPC)Marc> hom early,59.91,"HP:0012865,HP:0000798,HP:0003251,HP:0034011","MP:0001925,MP:0001926"
+1632,OMIM:619697,Oocyte/Zygote/Embryo Maturation Arrest 12,FBXO43,Fbxo43<em1(IMPC)Marc> hom early,68.215,HP:0008222,"MP:0001925,MP:0001926"
+1633,OMIM:619698,"Mucopolysaccharidosis, Type X",ARSK,Arsk<tm1b(KOMP)Wtsi> het early,22.385,HP:0100832,MP:0001325
+1634,OMIM:619698,"Mucopolysaccharidosis, Type X",ARSK,Arsk<tm1b(KOMP)Wtsi> hom early,22.385,HP:0100832,MP:0001325
+1635,OMIM:619699,Ferguson-Bonni Neurodevelopmental Syndrome,ANAPC7,Anapc7<em1(IMPC)J> hom early,29.89,"HP:0008209,HP:0000776","MP:0001926,MP:0010024"
+1636,OMIM:619705,Immunodeficiency 93 And Hypertrophic Cardiomyopathy,FNIP1,Fnip1<em1(IMPC)Ccpcz> het early,30.825,"HP:0030388,HP:0005133,HP:0001639,HP:0030252,HP:0010976,HP:0001875","MP:0000703,MP:0000706,MP:0002953"
+1637,OMIM:619705,Immunodeficiency 93 And Hypertrophic Cardiomyopathy,FNIP1,Fnip1<em1(IMPC)Ccpcz> hom early,56.03,"HP:0001716,HP:0030388,HP:0005133,HP:0001639,HP:0030252,HP:0010976,HP:0100280,HP:0005180,HP:0002136,HP:0001875","MP:0010392,MP:0010068,MP:0011951,MP:0010851,MP:0000709,MP:0013763,MP:0010579,MP:0013771,MP:0000692,MP:0000703,MP:0005015,MP:0010850,MP:0000274,MP:0000494,MP:0000266,MP:0010570,MP:0008078,MP:0008074,MP:0001402,MP:0002833,MP:0003233,MP:0000219,MP:0010506,MP:0002953,MP:0004953,MP:0002753,MP:0000689,MP:0013522,MP:0005599,MP:0005016,MP:0005333,MP:0013519,MP:0009476"
+1638,OMIM:619707,"Agammaglobulinemia 10, Autosomal Dominant",SPI1,Spi1<tm2b(EUCOMM)Wtsi> het early,27.335,"HP:0030252,HP:0410255","MP:0002590,MP:0002875"
+1639,OMIM:619708,Gastrointestinal Defects And Immunodeficiency Syndrome 2,PI4KA,Pi4ka<tm1b(EUCOMM)Wtsi> het early,28.095,"HP:0002599,HP:0001332,HP:0002080,HP:0001888","MP:0000220,MP:0003131,MP:0001513,MP:0002608"
+1640,OMIM:619736,Teebi Hypertelorism Syndrome 2,CDH11,Cdh11<em1(IMPC)Mbp> hom early,42.3,"HP:0003196,HP:0000047,HP:0007018","MP:0001146,MP:0002135,MP:0001364,MP:0000443,MP:0003068,MP:0001147,MP:0020870,MP:0001399"
+1641,OMIM:619743,Combined Oxidative Phosphorylation Deficiency 55,POLRMT,Polrmt<em1(IMPC)Mbp> het early,28.725,HP:0002119,MP:0001891
+1642,OMIM:619745,Noonan Syndrome 14,SPRED2,Spred2<em1(IMPC)Mbp> hom early,16.98,"HP:0002705,HP:0001888","MP:0010067,MP:0003883,MP:0000691,MP:0002591"
+1643,OMIM:619750,Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies,IL6ST,Il6st<tm1b(KOMP)Mbp> het early,34.315,"HP:0033332,HP:0011227,HP:0001433,HP:0001935","MP:0005344,MP:0005641"
+1644,OMIM:619751,Stuve-Wiedemann Syndrome 2,IL6ST,Il6st<tm1b(KOMP)Mbp> het early,24.685,HP:0001873,MP:0005641
+1645,OMIM:619751,Stuve-Wiedemann Syndrome 2,IL6ST,Il6st<tm1b(KOMP)Mbp> hom early,29.045,"HP:0003811,HP:0003826",MP:0011100
+1646,OMIM:619751,Stuve-Wiedemann Syndrome 2,IL6ST,Il6st<tm1b(KOMP)Mbp> hom embryo,26.185,"HP:0003811,HP:0003826",MP:0013293
+1647,OMIM:619752,"Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections",IL6ST,Il6st<tm1b(KOMP)Mbp> het early,19.375,"HP:0001875,HP:0040218,HP:0001888",MP:0005641
+1648,OMIM:619755,Hypogonadotropic Hypogonadism 27 Without Anosmia,NHLH2,Nhlh2<tm1b(KOMP)Mbp> hom early,15.545,HP:0001513,MP:0003961
+1649,OMIM:619755,Hypogonadotropic Hypogonadism 27 Without Anosmia,NHLH2,Nhlh2<em1(IMPC)Mbp> hom early,17.31,HP:0001513,MP:0003961
+1650,OMIM:619762,Kury-Isidor Syndrome,BAP1,Bap1<tm1a(EUCOMM)Hmgu> het early,16.97,"HP:0000998,HP:0001596",MP:0002098
+1651,OMIM:619762,Kury-Isidor Syndrome,BAP1,Bap1<em2(IMPC)Marc> het early,12.69,"HP:0000403,HP:0000369",MP:0004738
+1652,OMIM:619767,"Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6",RPA1,Rpa1<tm1b(KOMP)Wtsi> het early,30.59,"HP:0001876,HP:0001888,HP:0031545","MP:0002875,MP:0002874,MP:0002590,MP:0000208"
+1653,OMIM:619777,Developmental And Epileptic Encephalopathy 100,FBXO28,Fbxo28<em1(IMPC)Mhzh> het early,22.11,"HP:0002015,HP:0000733",MP:0020870
+1654,OMIM:619790,Oculopharyngodistal Myopathy 4,RILPL1,Rilpl1<tm1b(EUCOMM)Hmgu> hom early,31.965,"HP:0001337,HP:0002174",MP:0001488
+1655,OMIM:619793,Restrictive Dermopathy 2,LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,23.285,"HP:0000894,HP:0006391,HP:0000308",MP:0002764
+1656,OMIM:619802,Immunodeficiency 97 With Autoinflammation,PIK3CG,Pik3cg<tm1a(EUCOMM)Wtsi> hom early,19.06,"HP:0002155,HP:0003281",MP:0005628
+1657,OMIM:619841,Chilton-Okur-Chung Neurodevelopmental Syndrome,CDC42BPB,Cdc42bpb<em1(IMPC)J> het embryo,16.665,HP:0001511,MP:0001697
+1658,OMIM:619841,Chilton-Okur-Chung Neurodevelopmental Syndrome,CDC42BPB,Cdc42bpb<em1(IMPC)J> hom embryo,16.655,HP:0001511,MP:0001697
+1659,OMIM:619851,"Leukodystrophy, Hypomyelinating, 24",ATP11A,Atp11a<tm1e(KOMP)Wtsi> het early,28.335,"HP:0010976,HP:0001371","MP:0000218,MP:0000062"
+1660,OMIM:619859,Phosphoribosylaminoimidazole Carboxylase Deficiency,PAICS,Paics<em1(IMPC)Mbp> het embryo,18.145,HP:0004322,MP:0003984
+1661,OMIM:619859,Phosphoribosylaminoimidazole Carboxylase Deficiency,PAICS,Paics<em1(IMPC)Mbp> hom early,22.325,HP:0003811,MP:0011100
+1662,OMIM:619859,Phosphoribosylaminoimidazole Carboxylase Deficiency,PAICS,Paics<em1(IMPC)Mbp> hom embryo,21.565,HP:0003811,MP:0013294
+1663,OMIM:619884,"Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay",COPB2,Copb2<em1(IMPC)Bay> het early,34.87,"HP:0002136,HP:0002540",MP:0001402
+1664,OMIM:619908,Neurodevelopmental Disorder With Language Delay And Seizures,TIAM1,Tiam1<tm1b(EUCOMM)Hmgu> hom early,24.92,HP:0007018,MP:0001417
+1665,OMIM:619910,"Intellectual Developmental Disorder, Autosomal Dominant 66",ATP2B1,Atp2b1<tm1b(KOMP)Wtsi> het early,18.165,"HP:0008070,HP:0000369","MP:0002098,MP:0001284,MP:0004738"
+1666,OMIM:619927,"Intellectual Developmental Disorder, Autosomal Dominant 67",GRIA1,Gria1<em1(IMPC)H> hom early,51.365,"HP:0100034,HP:0000722,HP:0000752,HP:0007018",MP:0001399
+1667,OMIM:619927,"Intellectual Developmental Disorder, Autosomal Dominant 67",GRIA1,Gria1<em1(IMPC)H> hom late,57.805,"HP:0100034,HP:0000722,HP:0000752,HP:0007018","MP:0001417,MP:0020422,MP:0009454,MP:0009456,MP:0020420,MP:0001399"
+1668,OMIM:619927,"Intellectual Developmental Disorder, Autosomal Dominant 67",GRIA1,Gria1<em1(IMPC)H> hom middle,30.365,"HP:0000752,HP:0007018",MP:0001417
+1669,OMIM:619927,"Intellectual Developmental Disorder, Autosomal Dominant 67",GRIA1,Gria1<em1(IMPC)Hmgu> hom early,51.365,"HP:0100034,HP:0000722,HP:0000752,HP:0007018",MP:0001399
+1670,OMIM:619931,"Intellectual Developmental Disorder, Autosomal Recessive 76",GRIA1,Gria1<em1(IMPC)H> hom early,27.865,HP:0100716,MP:0001399
+1671,OMIM:619931,"Intellectual Developmental Disorder, Autosomal Recessive 76",GRIA1,Gria1<em1(IMPC)H> hom late,33.61,HP:0100716,"MP:0020422,MP:0001399,MP:0020420"
+1672,OMIM:619931,"Intellectual Developmental Disorder, Autosomal Recessive 76",GRIA1,Gria1<em1(IMPC)Hmgu> hom early,27.865,HP:0100716,MP:0001399
+1673,OMIM:619934,"Intellectual Developmental Disorder, Autosomal Dominant 68",KMT2B,Kmt2b<tm1.2(IMPC)Wtsi> het early,26.495,HP:0008070,MP:0002075
+1674,OMIM:619967,Congenital Myopathy 11,HACD1,Hacd1<em1(IMPC)Mbp> het embryo,32.895,HP:0001561,MP:0001785
+1675,OMIM:619967,Congenital Myopathy 11,HACD1,Hacd1<em1(IMPC)Mbp> hom embryo,31.905,HP:0001561,MP:0001785
+1676,OMIM:619971,Neurodevelopmental Disorder With Epilepsy And Brain Atrophy,ATP6V0A1,Atp6v0a1<tm1b(EUCOMM)Hmgu> het early,31.365,HP:0000939,MP:0010123
+1677,OMIM:619991,"Liver Disease, Severe Congenital",FOCAD,Focad<em1(IMPC)Bay> het late,30.265,"HP:0033193,HP:0000737,HP:0012465,HP:0001744,HP:0033196,HP:0006560,HP:0002240,HP:0000736,HP:0001903,HP:0100827,HP:0000952,HP:0031142,HP:0001738,HP:0001397,HP:0001882,HP:0002594,HP:0002586,HP:0006568,HP:0001406,HP:0001873","MP:0004953,MP:0001415"
+1678,OMIM:619991,"Liver Disease, Severe Congenital",FOCAD,Focad<em1(IMPC)Bay> hom embryo,16.225,"HP:0005231,HP:0002243,HP:0001537,HP:0002014","MP:0000111,MP:0004258"
+1679,OMIM:620010,"Cholestasis, Progressive Familial Intrahepatic, 12",VPS33B,Vps33b<tm1a(EUCOMM)Wtsi> het early,27.675,"HP:0002904,HP:0012202,HP:0002908",MP:0001556
+1680,OMIM:620021,Intellectual Developmental Disorder With Autism And Dysmorphic Facies,PDZD8,Pdzd8<tm1b(EUCOMM)Wtsi> hom early,45.18,"HP:0100023,HP:0001845,HP:0000722,HP:0007018","MP:0001399,MP:0002764"
+1681,OMIM:620022,"Stickler Syndrome, Type Vi",COL9A3,Col9a3<em1(IMPC)Tcp> hom early,20.285,HP:0000407,MP:0004738
+1682,OMIM:620024,"Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities",PPFIBP1,Ppfibp1<em1(IMPC)J> hom early,21.405,HP:0003811,"MP:0011110,MP:0011100"
+1683,OMIM:620029,"Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures",CACNA1C,Cacna1c<em1(IMPC)Mbp> het early,22.095,"HP:0002015,HP:0007018",MP:0020421
+1684,OMIM:620033,Developmental And Epileptic Encephalopathy 107,NAPB,Napb<tm1b(EUCOMM)Hmgu> het early,37.015,HP:0000733,"MP:0001364,MP:0001399,MP:0020870"
+1685,OMIM:620047,"Microcephaly 29, Primary, Autosomal Recessive",PDCD6IP,Pdcd6ip<em1(IMPC)Mbp> hom late,25.535,"HP:0005565,HP:0004719","MP:0002989,MP:0002135,MP:0008528"
+1686,OMIM:620047,"Microcephaly 29, Primary, Autosomal Recessive",PDCD6IP,Pdcd6ip<em1(IMPC)Hmgu> hom early,36,"HP:0000712,HP:0000752,HP:0001251","MP:0001364,MP:0001402,MP:0001415,MP:0020870"
+1687,OMIM:620047,"Microcephaly 29, Primary, Autosomal Recessive",PDCD6IP,Pdcd6ip<em1(IMPC)Hmgu> hom late,21.075,HP:0000752,MP:0011940
+1688,OMIM:620073,Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities,HNRNPR,Hnrnpr<em1(IMPC)Marc> hom early,23.545,HP:0007018,MP:0001417
+1689,OMIM:620075,"Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly",TMEM147,Tmem147<em1(IMPC)J> het early,18.07,"HP:0002212,HP:0045075,HP:0008070,HP:0000664",MP:0000579
+1690,OMIM:620076,Bent Bone Dysplasia Syndrome 2,LAMA5,Lama5<tm1b(KOMP)Wtsi> het early,18.89,"HP:0001631,HP:0002240",MP:0000274
+1691,OMIM:620084,Spermatogenic Failure 76,CCDC34,Ccdc34<em1(IMPC)J> hom early,72.515,"HP:0032558,HP:0012207,HP:0032559,HP:0033393,HP:0000798,HP:0003251",MP:0001925
+1692,OMIM:620085,Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2,ATP5F1B,Atp5f1b<em1(IMPC)Ccpcz> het early,55.28,"HP:0010910,HP:0010911,HP:0010913,HP:0001987,HP:0003138","MP:0005344,MP:0005553,MP:0000186"
+1693,OMIM:620089,"Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction",LETM1,Letm1<em1(IMPC)Hmgu> het early,35.14,"HP:0410309,HP:0033407,HP:0003487,HP:0003535,HP:0002066,HP:0002487,HP:0001257,HP:0001251","MP:0000745,MP:0002135"
+1694,OMIM:620094,Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia,FRMD5,Frmd5<tm1a(EUCOMM)Hmgu> hom early,28.035,HP:0001332,MP:0001488
+1695,OMIM:620114,Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures,CACNA1I,Cacna1i<tm1b(KOMP)Wtsi> hom early,25.7,HP:0002540,MP:0001402
+1696,OMIM:620121,"Iron Overload, Susceptibility To",BMP6,Bmp6<em1(IMPC)Ccpcz> hom early,45.76,"HP:0031877,HP:0012463,HP:0003281,HP:0012465","MP:0002941,MP:0005343,MP:0001944,MP:0008810"
+1697,OMIM:620145,Developmental And Epileptic Encephalopathy 109,FZR1,Fzr1<tm1.1(KOMP)Vlcg> hom embryo,22.02,HP:0001511,MP:0001697
+1698,OMIM:620149,Developmental And Epileptic Encephalopathy 110,CACNA2D1,Cacna2d1<em1(IMPC)Mbp> hom early,25.75,HP:0003763,"MP:0020421,MP:0020420"
+1699,OMIM:620155,Rabin-Pappas Syndrome,SETD2,Setd2<tm1b(NCOM)Mfgc> hom early,15.37,"HP:0007763,HP:0000347","MP:0010392,MP:0002764"
+1700,OMIM:620157,"Intellectual Developmental Disorder, Autosomal Dominant 70",SETD2,Setd2<tm1b(NCOM)Mfgc> hom early,16.505,"HP:0007763,HP:0000347","MP:0010392,MP:0002764"
+1701,OMIM:620166,"Muscular Dystrophy, Congenital, With Or Without Seizures",GOSR2,Gosr2<tm1b(EUCOMM)Hmgu> het early,38.53,"HP:0002505,HP:0001251,HP:0003236","MP:0001406,MP:0008806"
+1702,OMIM:620167,Combined Oxidative Phosphorylation Deficiency 57,CRLS1,Crls1<tm1a(EUCOMM)Wtsi> hom early,22.93,HP:0003811,MP:0011100
+1703,OMIM:620185,Atelis Syndrome 2,SMC5,Smc5<tm1b(KOMP)Wtsi> het early,45.31,"HP:0000842,HP:0001903,HP:0001873,HP:0001310","MP:0002875,MP:0000745,MP:0005011,MP:0003179,MP:0005016,MP:0005560,MP:0000219,MP:0000208"
+1704,OMIM:620186,"Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome",KMT2D,Kmt2d<tm1.2(IMPC)Wtsi> het early,18.38,"HP:0008282,HP:0005359","MP:0003020,MP:0002875,MP:0005634,MP:0005561,MP:0002968,MP:0008806,MP:0000221"
+1705,OMIM:620193,Lacrimoauriculodentodigital Syndrome 3,FGF10,Fgf10<tm1b(EUCOMM)Wtsi> het early,34.02,"HP:0007925,HP:0000561,HP:0006297,HP:0001092,HP:0000286","MP:0010024,MP:0005287"
+1706,OMIM:620210,Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia,NAE1,Nae1<tm1b(EUCOMM)Wtsi> het early,26.86,"HP:0001882,HP:0001888,HP:0001744","MP:0002875,MP:0002590"
+1707,OMIM:620221,"Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia",UCHL1,Uchl1<tm1b(EUCOMM)Hmgu> het early,34.465,"HP:0002015,HP:0002080","MP:0001399,MP:0001488"
+1708,OMIM:620221,"Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia",UCHL1,Uchl1<tm1b(EUCOMM)Hmgu> het late,23.015,HP:0002015,MP:0001399
+1709,OMIM:620222,Spermatogenic Failure 80,DRC1,Drc1<em1(IMPC)Bay> hom early,76.445,"HP:0032558,HP:0034011,HP:0032559,HP:0032560,HP:0000798,HP:0003251",MP:0001925
+1710,OMIM:620238,"Deafness, Autosomal Recessive 120",MINAR2,Minar2<tm1b(KOMP)Wtsi> hom early,27.43,HP:0000407,MP:0004738
+1711,OMIM:620242,Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities,ATP9A,Atp9a<tm1b(EUCOMM)Hmgu> hom early,49.66,"HP:0000718,HP:0000752,HP:0007018,HP:0033838,HP:0000733,HP:0000716,HP:0000736","MP:0001399,MP:0001415"
+1712,OMIM:620270,Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities,UBE3C,Ube3c<tm1b(EUCOMM)Hmgu> hom early,37.77,"HP:0000718,HP:0000752,HP:0001639,HP:0010665,HP:0001251","MP:0001406,MP:0002764,MP:0002834,MP:0001417,MP:0002757"
+1713,OMIM:620270,Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities,UBE3C,Ube3c<tm1b(EUCOMM)Hmgu> hom late,31.505,HP:0001639,"MP:0003921,MP:0005599,MP:0002626"
+1714,OMIM:620300,Mitochondrial Trifunctional Protein Deficiency 2,HADHB,Hadhb<em1(IMPC)Bay> het early,36.495,HP:0001943,MP:0013278
+1715,OMIM:620300,Mitochondrial Trifunctional Protein Deficiency 2,HADHB,Hadhb<em1(IMPC)Bay> hom early,22.445,HP:0003811,MP:0011110
+1716,OMIM:620317,"Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities",WARS1,Wars1<tm1b(EUCOMM)Hmgu> het late,45.775,"HP:0002317,HP:0002540,HP:0001251","MP:0001406,MP:0001523"
+1717,OMIM:620320,"Hematuria, Benign Familial, 2",COL4A3,Col4a3<tm1b(EUCOMM)Wtsi> hom early,29.785,"HP:0002907,HP:0033282,HP:0000093",MP:0003917
+1718,OMIM:620330,"Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities",RFX7,Rfx7<tm2b(EUCOMM)Hmgu> het early,22.24,"HP:0002136,HP:0000609","MP:0001402,MP:0001325"
+1719,OMIM:620331,Hatipoglu Immunodeficiency Syndrome,DPP9,Dpp9<em1(IMPC)Ccpcz> het early,22.76,"HP:0001903,HP:0001350,HP:0001876,HP:0001508","MP:0000745,MP:0003961,MP:0000689"
+1720,OMIM:620343,Basal Cell Nevus Syndrome 2,SUFU,Sufu<tm1b(KOMP)Wtsi> hom embryo,35.485,HP:0000238,"MP:0003864,MP:0003232,MP:0003720,MP:0006108"
+1721,OMIM:620351,"Congenital Myopathy 22A, Classic",SCN4A,Scn4a<tm2b(KOMP)Wtsi> het early,32.695,HP:0008180,"MP:0002966,MP:0008806"
+1722,OMIM:620351,"Congenital Myopathy 22A, Classic",SCN4A,Scn4a<tm2b(KOMP)Wtsi> hom early,22.585,HP:0003811,MP:0011100
+1723,OMIM:620357,Diarrhea 13,ACSL5,Acsl5<tm1.1(KOMP)Vlcg> hom early,55.225,"HP:0002910,HP:0001988,HP:0003073,HP:0001397","MP:0005179,MP:0004952,MP:0005344,MP:0005560,MP:0005567,MP:0003402,MP:0000186"
+1724,OMIM:620358,"Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A",ATP5F1A,Atp5f1a<tm1a(EUCOMM)Wtsi> het early,32.355,"HP:0001903,HP:0001508","MP:0005505,MP:0001262,MP:0005562"
+1725,OMIM:620376,"Autoinflammatory Disease, Systemic, With Vasculitis",LYN,Lyn<tm1b(EUCOMM)Hmgu> hom early,49.3,"HP:0001903,HP:0001433,HP:0006559,HP:0011227,HP:0000952,HP:0100828,HP:0002908,HP:0001396,HP:0001640,HP:0005404,HP:0001974,HP:0001395,HP:0002240,HP:0001873,HP:0001744","MP:0002875,MP:0002599,MP:0005011,MP:0000220,MP:0010067,MP:0002874,MP:0003179,MP:0004952,MP:0000208,MP:0005016,MP:0000221,MP:0000219,MP:0005565"
+1726,OMIM:620376,"Autoinflammatory Disease, Systemic, With Vasculitis",LYN,Lyn<tm1b(EUCOMM)Hmgu> hom late,51.365,"HP:0001369,HP:0001903,HP:0001433,HP:0006559,HP:0000952,HP:0011227,HP:0100828,HP:0011850,HP:0002908,HP:0001396,HP:0001640,HP:4000037,HP:0005404,HP:0001974,HP:0001395,HP:0002240,HP:0001873,HP:0001744","MP:0002875,MP:0005179,MP:0002599,MP:0010067,MP:0003179,MP:0002874,MP:0012362,MP:0004952,MP:0000063,MP:0005343,MP:0000706,MP:0000208,MP:0005016,MP:0000219,MP:0005565,MP:0000691,MP:0000186"
+1727,OMIM:620379,"Spastic Paraplegia 89, Autosomal Recessive",AMFR,Amfr<tm1a(KOMP)Wtsi> het early,30.27,HP:0001251,MP:0001402
+1728,OMIM:620409,Spermatogenic Failure 84,CFAP61,Cfap61<tm2a(EUCOMM)Wtsi> hom early,69.665,"HP:0032558,HP:0034011,HP:0012207,HP:0034811,HP:0032559,HP:0032560,HP:0033393,HP:0000798,HP:0003251",MP:0001925
+1729,OMIM:620415,Woolly Hair-Skin Fragility Syndrome,TUFT1,Tuft1<tm1a(KOMP)Wtsi> hom early,27.245,HP:0002224,"MP:0001510,MP:0002098"
+1730,OMIM:620422,Retinitis Pigmentosa 97,VWA8,Vwa8<tm1b(EUCOMM)Wtsi> hom early,45.555,"HP:0000608,HP:0000510","MP:0002699,MP:0002792,MP:0010097,MP:0001325"
+1731,OMIM:620423,Multiple Mitochondrial Dysfunctions Syndrome 7,GCSH,Gcsh<em1(IMPC)H> het early,20.695,HP:0001873,"MP:0002590,MP:0005561,MP:0002606"
+1732,OMIM:620427,"Dystonia 37, Early-Onset, With Striatal Lesions",NUP54,Nup54<em1(IMPC)Bay> het early,36.39,"HP:0001266,HP:0002505,HP:0001251,HP:0002015","MP:0001402,MP:0020870"
+1733,OMIM:620438,"Ciliary Dyskinesia, Primary, 51",BRWD1,Brwd1<em1(IMPC)Tcp> hom early,51.75,"HP:0032558,HP:0034011,HP:0012207,HP:0032559,HP:0033393,HP:0000798,HP:0003251","MP:0001147,MP:0002059,MP:0001926,MP:0001925"
+1734,OMIM:620445,Neurodevelopmental Disorder With Microcephaly And Movement Abnormalities,TTI1,Tti1<em1(IMPC)J> het early,13.185,HP:0000369,MP:0004738
+1735,OMIM:620455,"Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures",EIF4A2,Eif4a2<em1(IMPC)J> hom early,33.505,"HP:0100710,HP:0002015,HP:0012168,HP:0007018","MP:0002797,MP:0001363,MP:0001399,MP:0001415"
+1736,OMIM:620458,Auriculocondylar Syndrome 2B,PLCB4,Plcb4<tm1b(EUCOMM)Wtsi> hom early,23.335,"HP:0011261,HP:0000040,HP:0001508,HP:0001539,HP:0030022","MP:0003960,MP:0001120,MP:0004738,MP:0010025,MP:0009709"
+1737,OMIM:620459,Birt-Hogg-Dube Syndrome 2,PRDM10,Prdm10<tm1b(EUCOMM)Hmgu> het early,52.31,HP:0001012,MP:0010025
+1738,OMIM:620478,Thrombocytopenia 9,THPO,Thpo<tm1.1(KOMP)Vlcg> hom early,58.04,"HP:0001873,HP:0030402","MP:0003179,MP:0002599"
+1739,OMIM:620481,"Amegakaryocytic Thrombocytopenia, Congenital, 2",THPO,Thpo<tm1.1(KOMP)Vlcg> hom early,52.97,"HP:0001915,HP:0001903,HP:0001876,HP:0001875,HP:0001873","MP:0003179,MP:0002599"
+1740,OMIM:620483,"Variegate Porphyria, Childhood-Onset",PPOX,Ppox<em1(IMPC)J> het early,20.765,HP:0012187,"MP:0002941,MP:0001566"
+1741,OMIM:620494,"Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies",UBAP2L,Ubap2l<em1(IMPC)Bay> het early,37.81,"HP:0034681,HP:0001831,HP:0001763,HP:0001840,HP:0012427,HP:0010055,HP:0030084,HP:0003097,HP:0009656,HP:0001156",MP:0002764
+1742,OMIM:620494,"Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies",UBAP2L,Ubap2l<em1(IMPC)Bay> hom embryo,18.865,HP:0001511,MP:0001697
+1743,OMIM:620501,Ziegler-Huang Syndrome,SLC30A7,Slc30a7<em1(IMPC)Bay> hom early,22.875,HP:0000135,"MP:0001925,MP:0001926"
+1744,OMIM:620504,Developmental And Epileptic Encephalopathy 111,DEPDC5,Depdc5<tm1b(EUCOMM)Hmgu> het early,17.675,"HP:0000023,HP:0001537",MP:0010024
+1745,OMIM:620510,Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome,DBR1,Dbr1<tm1.1(KOMP)Vlcg> het early,33.325,"HP:0001134,HP:0010946","MP:0001303,MP:0011436"
+1746,OMIM:620535,"Developmental Delay, Dysmorphic Facies, And Brain Anomalies",U2AF2,U2af2<em1(IMPC)J> het early,13.63,"HP:0008551,HP:0000369",MP:0004738
+1747,OMIM:620536,"Alport Syndrome 3B, Autosomal Recessive",COL4A3,Col4a3<tm1b(EUCOMM)Wtsi> hom early,30.65,"HP:0003774,HP:0012577,HP:0000093,HP:0002907,HP:0000100,HP:0000083,HP:0012592",MP:0003917
+1748,OMIM:620538,"Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia",SPTAN1,Sptan1<em1(IMPC)Mbp> het early,22.21,HP:0001138,"MP:0002699,MP:0001289,MP:0002792"
+1749,OMIM:620538,"Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia",SPTAN1,Sptan1<em1(IMPC)Mbp> hom embryo,33.58,HP:0000252,MP:0000433
+1750,OMIM:620540,Developmental Delay With Or Without Epilepsy,SPTAN1,Sptan1<em1(IMPC)Mbp> hom embryo,38.32,HP:0000252,MP:0000433
+1751,OMIM:620542,"Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10",VRK1,Vrk1<em1(IMPC)Mbp> het early,42.19,HP:0003236,"MP:0002941,MP:0005343"
+1752,OMIM:620545,"Arthrogryposis, Distal, Type 12",ADAMTS15,Adamts15<tm1.1(KOMP)Vlcg> hom early,28.065,"HP:0000034,HP:0000028,HP:0000369","MP:0004738,MP:0004931"
+1753,OMIM:620547,Spermatogenic Failure 88,KASH5,Kash5<em1(IMPC)J> hom early,59.11,"HP:0011961,HP:0031039,HP:0003251","MP:0001925,MP:0001926"
+1754,OMIM:620548,Premature Ovarian Failure 22,KASH5,Kash5<em1(IMPC)J> hom early,57.72,"HP:0008209,HP:0000869,HP:0008222","MP:0001925,MP:0001926"
+1755,OMIM:620568,Cornelia De Lange Syndrome 6,BRD4,Brd4<tm1b(EUCOMM)Wtsi> het early,24.975,"HP:0001385,HP:0200021,HP:0001166,HP:0004209,HP:0010034,HP:0004279",MP:0002764
+1756,OMIM:620632,Immunodeficiency 115 With Autoinflammation,RNF31,Rnf31<tm1b(KOMP)Wtsi> het early,20.815,HP:0001744,MP:0002833
+1757,OMIM:620632,Immunodeficiency 115 With Autoinflammation,RNF31,Rnf31<tm1b(KOMP)Wtsi> het embryo,21.16,HP:0008897,MP:0003984
+1758,OMIM:620632,Immunodeficiency 115 With Autoinflammation,RNF31,Rnf31<tm1b(KOMP)Wtsi> hom embryo,21.045,HP:0008897,MP:0003984
+1759,OMIM:620639,"Osteogenesis Imperfecta, Type Xxiii",PHLDB1,Phldb1<em1(IMPC)J> hom early,45.785,"HP:0000938,HP:0004349,HP:0002757","MP:0010124,MP:0000063"
+1760,OMIM:620641,Tan-Almurshedi Syndrome,DRG1,Drg1<em1(IMPC)Tcp> het early,25.49,"HP:0001890,HP:0000687,HP:0000232","MP:0010067,MP:0000613"
+1761,OMIM:620646,Combined Oxidative Phosphorylation Deficiency 59,MRPL39,Mrpl39<em1(IMPC)J> het early,37.83,"HP:0001635,HP:0001639,HP:0012666,HP:0012734,HP:0003348","MP:0005559,MP:0005554,MP:0003896"
+1762,OMIM:620653,"Intellectual Developmental Disorder, Autosomal Recessive 80, With Variant Lissencephaly",CASP2,Casp2<em1(IMPC)Mbp> hom early,31.755,HP:0000648,"MP:0002699,MP:0001289,MP:0001325"
+1763,OMIM:620659,"Amyloidosis, Hereditary Systemic 6",B2M,B2m<tm1b(EUCOMM)Wtsi> het early,20.645,HP:0001278,MP:0001102
+1764,OMIM:620675,"Leukodystrophy, Hypomyelinating, 27",POLR1A,Polr1a<tm1b(EUCOMM)Hmgu> het early,23.99,HP:0000648,MP:0003731
+1765,OMIM:620679,"Lipodystrophy, Familial Partial, Type 8",ADRA2A,Adra2a<tm1.1(KOMP)Vlcg> hom early,42.315,"HP:0003074,HP:0000819","MP:0001147,MP:0013278,MP:0005292"
+1766,OMIM:620683,"Lipodystrophy, Familial Partial, Type 9",PLAAT3,Plaat3<em1(IMPC)Tcp> hom early,35.575,"HP:0003074,HP:0040217,HP:0000831,HP:0000842,HP:0001397,HP:0002240","MP:0002833,MP:0005293,MP:0000689,MP:0005561"
+1767,OMIM:620700,"Intellectual Developmental Disorder, Autosomal Recessive 81",ASCC3,Ascc3<tm1a(EUCOMM)Hmgu> het early,34.5,"HP:0001831,HP:0009882,HP:0001773,HP:0030084,HP:0003025,HP:0001238",MP:0004357
+1768,OMIM:620703,Yuksel-Vogel-Bauer Syndrome,DLG5,Dlg5<tm1b(EUCOMM)Wtsi> het early,45.06,"HP:0010953,HP:0001334",MP:0001891
+1769,OMIM:620703,Yuksel-Vogel-Bauer Syndrome,DLG5,Dlg5<tm1b(EUCOMM)Wtsi> het embryo,23.005,"HP:0010953,HP:0001334",MP:0003054
+1770,OMIM:620703,Yuksel-Vogel-Bauer Syndrome,DLG5,Dlg5<tm1b(EUCOMM)Wtsi> hom embryo,22.175,"HP:0010953,HP:0001334",MP:0003054
+1771,OMIM:620704,"Encephalopathy, Porphyria-Related",HMBS,Hmbs<tm1b(EUCOMM)Hmgu> het early,40.58,"HP:0002080,HP:0000609,HP:0000518","MP:0002699,MP:0001303,MP:0001488"
+1772,OMIM:620711,"Leukoencephalopathy, Porphyria-Related",HMBS,Hmbs<tm1b(EUCOMM)Hmgu> het early,27.525,HP:0000648,MP:0002699
+1773,OMIM:620714,"Deafness, Autosomal Recessive 122",TMTC4,Tmtc4<tm1.1(KOMP)Vlcg> hom early,30.945,HP:0000407,MP:0004738
+1774,OMIM:620718,Orofaciodigital Syndrome Xx,RAB34,Rab34<tm1b(EUCOMM)Hmgu> het early,24.54,"HP:0001629,HP:0006695,HP:0001660",MP:0002833
+1775,OMIM:620718,Orofaciodigital Syndrome Xx,RAB34,Rab34<tm1b(EUCOMM)Hmgu> hom embryo,55.365,"HP:0410030,HP:0010112,HP:0006159,HP:0002023,HP:0000180,HP:0010880,HP:0001561,HP:0001162,HP:0003097,HP:0001830,HP:0001177,HP:0000175,HP:0001841","MP:0001785,MP:0002109,MP:0008797,MP:0000562,MP:0005650,MP:0000111"
+1776,OMIM:620728,Ullrich Congenital Muscular Dystrophy 1C,COL6A3,Col6a3<em1(IMPC)Kmpc> hom early,19.51,HP:0003236,MP:0000182
+1777,OMIM:620746,Neurodevelopmental Disorder With Hypotonia And Characteristic Brain Abnormalities,SLC4A10,Slc4a10<tm1b(KOMP)Wtsi> hom early,47.165,"HP:0000718,HP:0100023,HP:0000752,HP:0004443,HP:0000358,HP:0000369,HP:0000400,HP:0000411,HP:0000365,HP:0001251","MP:0001406,MP:0001402,MP:0010124,MP:0004738,MP:0001399"
+1778,OMIM:620762,Macular Dystrophy With Or Without Cone Dysfunction,SAMD7,Samd7<tm1b(EUCOMM)Hmgu> hom early,66.355,"HP:0007722,HP:0007754,HP:0025159,HP:0012511,HP:0007401",MP:0001325
+1779,OMIM:620762,Macular Dystrophy With Or Without Cone Dysfunction,SAMD7,Samd7<tm1b(EUCOMM)Hmgu> hom late,69.635,"HP:0007722,HP:0007754,HP:0025159,HP:0012511,HP:0007401",MP:0001325
+1780,OMIM:620767,Seckel Syndrome 11,CEP295,Cep295<em1(IMPC)Bay> hom embryo,19.4,HP:0001511,MP:0001697
+1781,OMIM:620780,"Cutis Laxa, Autosomal Recessive, Type Id",EFEMP1,Efemp1<tm1.1(KOMP)Vlcg> hom early,38.87,"HP:0002253,HP:0005214,HP:0100808,HP:0010811,HP:0000189,HP:0002580,HP:0002035,HP:0000218,HP:0100822",MP:0000494
+1782,OMIM:620790,Neurodevelopmental Disorder With Hypotonia And Seizures,OTUD7A,Otud7a<em1(IMPC)Bay> het late,30.2,HP:0002540,MP:0001402
+1783,OMIM:620817,Mhc Class Ii Deficiency 4,RFXAP,Rfxap<em1(IMPC)J> hom early,12.38,HP:0000403,MP:0004738
+1784,OMIM:620848,Spermatogenic Failure 92,LRRC23,Lrrc23<tm1a(EUCOMM)Wtsi> hom early,72.08,"HP:0032558,HP:0034011,HP:0012207,HP:0034811,HP:0032559,HP:0032560,HP:0000798,HP:0003251",MP:0001925
+1785,OMIM:620849,Spermatogenic Failure 93,STK33,Stk33<em1(IMPC)J> hom early,69.665,"HP:0032558,HP:0034011,HP:0012207,HP:0034811,HP:0032559,HP:0032560,HP:0033393,HP:0000798,HP:0003251",MP:0001925
+1786,OMIM:620865,"Ehlers-Danlos Syndrome, Classic-Like, 3",THBS2,Thbs2<em1(IMPC)Mbp> hom early,14.06,HP:0011873,"MP:0000691,MP:0000689"
+1787,OMIM:620869,Immunodeficiency 122,POLD3,Pold3<tm1b(EUCOMM)Wtsi> het early,11.015,HP:0005359,MP:0002079
+1788,OMIM:620894,"Cardiomyopathy, Dilated, 2K",MYZAP,Myzap<em1(IMPC)J> hom early,36.265,HP:0031185,"MP:0005567,MP:0005179,MP:0005419,MP:0000186"
+1789,OMIM:620988,"Intellectual Developmental Disorder, Autosomal Dominant 75",DHX9,Dhx9<tm1b(EUCOMM)Hmgu> hom early,20.895,HP:0012817,MP:0005333
+1790,OMIM:621001,Spermatogenic Failure 96,SPATA22,Spata22<tm1b(KOMP)Wtsi> hom early,63.41,"HP:0011961,HP:0031039,HP:0030338,HP:0030087,HP:0003251,HP:0000028","MP:0001146,MP:0001944,MP:0001147,MP:0001925,MP:0001926,MP:0004931"
+1791,OMIM:621002,Premature Ovarian Failure 25,SPATA22,Spata22<tm1b(KOMP)Wtsi> hom early,61.26,"HP:0031103,HP:0008209,HP:0000858,HP:0008222,HP:0008232","MP:0001146,MP:0001944,MP:0001147,MP:0001925,MP:0001926"
+1792,OMIM:621018,"Basal Ganglia Calcification, Idiopathic, 10, Autosomal Recessive",CMPK2,Cmpk2<tm1b(KOMP)Wtsi> hom early,22.09,"HP:0100529,HP:0004363",MP:0005178
+1793,OMIM:621018,"Basal Ganglia Calcification, Idiopathic, 10, Autosomal Recessive",CMPK2,Cmpk2<tm1b(KOMP)Wtsi> hom late,28.89,HP:0001251,MP:0001402
+1794,ORPHA:100050,Hereditary Angioedema Type 1,SERPING1,Serping1<em1(IMPC)Mbp> hom early,25.38,HP:0025349,MP:0001304
+1795,ORPHA:100069,Semantic Dementia,MAPT,Mapt<tm1b(EUCOMM)Hmgu> hom early,44.315,"HP:0012671,HP:0000726",MP:0001417
+1796,ORPHA:100069,Semantic Dementia,CHMP2B,Chmp2b<em1(IMPC)Mbp> het early,42.85,HP:0012671,MP:0020420
+1797,ORPHA:100070,Progressive Non-Fluent Aphasia,MAPT,Mapt<tm1b(EUCOMM)Hmgu> hom early,37.855,"HP:0002354,HP:0002145,HP:0000711,HP:0001268,HP:0000716",MP:0001417
+1798,ORPHA:100070,Progressive Non-Fluent Aphasia,CHMP2B,Chmp2b<em1(IMPC)Mbp> het early,36.98,"HP:0000711,HP:0000716",MP:0020420
+1799,ORPHA:100924,Porphyria Due To Ala Dehydratase Deficiency,ALAD,Alad<em1(IMPC)Tcp> het early,26.82,"HP:0010472,HP:0030272,HP:0012217,HP:0040322,HP:0005547,HP:0002902,HP:0012187","MP:0011874,MP:0000709,MP:0001552"
+1800,ORPHA:100924,Porphyria Due To Ala Dehydratase Deficiency,ALAD,Alad<em1(IMPC)Tcp> het late,32.26,"HP:0030272,HP:0012217,HP:0040322,HP:0005547","MP:0011874,MP:0010068"
+1801,ORPHA:100991,Autosomal Dominant Spastic Paraplegia Type 10,KIF5A,Kif5a<tm1b(EUCOMM)Wtsi> het early,21.97,"HP:0000510,HP:0000365","MP:0004738,MP:0006243"
+1802,ORPHA:100996,Autosomal Recessive Spastic Paraplegia Type 15,ZFYVE26,Zfyve26<em1(IMPC)J> hom early,40.38,"HP:0100543,HP:0002145,HP:0007024,HP:0000726,HP:0001288","MP:0002574,MP:0002804"
+1803,ORPHA:100998,Autosomal Dominant Spastic Paraplegia Type 17,BSCL2,Bscl2<tm1b(EUCOMM)Hmgu> hom early,32.9,"HP:0001436,HP:0001763,HP:0002064,HP:0001171","MP:0001406,MP:0001402,MP:0002764"
+1804,ORPHA:101,Dentatorubral Pallidoluysian Atrophy,ATN1,Atn1<tm1b(EUCOMM)Wtsi> hom early,41.085,"HP:0001266,HP:0100543,HP:0002354,HP:0002075,HP:0012048,HP:0002070,HP:0001310,HP:0002066,HP:0002073,HP:0002078,HP:0001138,HP:0002345,HP:0000726,HP:0000643,HP:0001251,HP:0010867","MP:0001406,MP:0001289,MP:0001513,MP:0001417"
+1805,ORPHA:1010,Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia,GJA1,Gja1<em1(IMPC)Ccpcz> hom embryo,13.065,HP:0002435,MP:0001697
+1806,ORPHA:101000,Autosomal Recessive Spastic Paraplegia Type 20,SPART,Spart<tm2b(EUCOMM)Hmgu> hom early,28.58,"HP:0100543,HP:0000712",MP:0001417
+1807,ORPHA:101016,Romano-Ward Syndrome,AKAP9,Akap9<tm1a(KOMP)Wtsi> het early,21.15,HP:0002900,"MP:0005179,MP:0005419,MP:0000183,MP:0002968,MP:0008806,MP:0000186"
+1808,ORPHA:101016,Romano-Ward Syndrome,KCNE2,Kcne2<tm1a(EUCOMM)Wtsi> hom early,36.765,HP:0002900,"MP:0005567,MP:0005419,MP:0010092,MP:0004151"
+1809,ORPHA:101016,Romano-Ward Syndrome,NOS1AP,Nos1ap<tm1b(KOMP)Wtsi> hom early,19.405,"HP:0012332,HP:0002900","MP:0008259,MP:0002942"
+1810,ORPHA:101016,Romano-Ward Syndrome,KCNE1,Kcne1<tm1b(EUCOMM)Hmgu> hom early,21.175,"HP:0012332,HP:0002900","MP:0002941,MP:0004738,MP:0002968"
+1811,ORPHA:101111,Spinocerebellar Ataxia Type 25,PNPT1,Pnpt1<tm1a(KOMP)Wtsi> het early,39.025,"HP:0002066,HP:0002073",MP:0001406
+1812,ORPHA:101150,Autosomal Recessive Dopa-Responsive Dystonia,TH,Th<em1(IMPC)H> het early,34.28,"HP:0002066,HP:0001251",MP:0001406
+1813,ORPHA:1018,X-Linked Alport Syndrome-Diffuse Leiomyomatosis,COL4A5,Col4a5<tm1b(EUCOMM)Wtsi> hem early,36.99,"HP:0003774,HP:0000093,HP:0000518,HP:0000112,HP:0000491,HP:0011501,HP:0000790,HP:0012622","MP:0002135,MP:0001303,MP:0001289"
+1814,ORPHA:1018,X-Linked Alport Syndrome-Diffuse Leiomyomatosis,COL4A5,Col4a5<tm1b(EUCOMM)Wtsi> hom early,13.075,"HP:0003774,HP:0000093,HP:0000112,HP:0000790,HP:0012622",MP:0002135
+1815,ORPHA:1020,Early-Onset Autosomal Dominant Alzheimer Disease,SORL1,Sorl1<tm1b(EUCOMM)Wtsi> hom early,25.96,HP:0001251,MP:0001406
+1816,ORPHA:1020,Early-Onset Autosomal Dominant Alzheimer Disease,TOMM40,Tomm40<em1(IMPC)J> het early,35.365,"HP:0000734,HP:0000713",MP:0001399
+1817,ORPHA:1031,Enamel-Renal Syndrome,FAM20A,Fam20a<tm1b(KOMP)Wtsi> hom early,48.235,"HP:0011073,HP:0004727,HP:0012365,HP:0000705,HP:0003127,HP:0000112,HP:0000212,HP:0000083,HP:0000805,HP:0000682,HP:0000684,HP:0006286,HP:0000121","MP:0002135,MP:0010025,MP:0002100"
+1818,ORPHA:1040,Metaphyseal Anadysplasia,MMP9,Mmp9<tm1b(EUCOMM)Wtsi> hom early,54.305,"HP:0006487,HP:0004039,HP:0002814,HP:0000944,HP:0005930,HP:0006501,HP:0040071",MP:0002764
+1819,ORPHA:1040,Metaphyseal Anadysplasia,MMP13,Mmp13<em1(IMPC)Ccpcz> hom early,42.145,"HP:0006487,HP:0004039,HP:0002814,HP:0000944,HP:0005930,HP:0006501,HP:0040071",MP:0002764
+1820,ORPHA:1052,Mosaic Variegated Aneuploidy Syndrome,TRIP13,Trip13<tm1.1(KOMP)Vlcg> hom early,31.29,"HP:0007565,HP:0002817,HP:0000518,HP:0002797,HP:0007957,HP:0004209,HP:0006721,HP:0001000","MP:0002875,MP:0005102,MP:0002874,MP:0005561,MP:0002110,MP:0010124,MP:0003795,MP:0000208"
+1821,ORPHA:1052,Mosaic Variegated Aneuploidy Syndrome,TRIP13,Trip13<tm1.1(KOMP)Vlcg> hom late,38.17,"HP:0001659,HP:0007565,HP:0000518,HP:0002797,HP:0007957,HP:0006721,HP:0001000","MP:0000218,MP:0000063,MP:0010124,MP:0001303,MP:0003795,MP:0010506,MP:0002075"
+1822,ORPHA:1052,Mosaic Variegated Aneuploidy Syndrome,TRIP13,Trip13<em1(IMPC)J> hom early,25.92,HP:0002797,"MP:0010124,MP:0000063"
+1823,ORPHA:1065,Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome,PAX6,Pax6<em1(IMPC)Mbp> het early,29.615,HP:0000526,"MP:0001297,MP:0001314,MP:0001293,MP:0005542"
+1824,ORPHA:1065,Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome,PAX6,Pax6<em1(IMPC)Mbp> het embryo,29.235,HP:0000526,MP:0001297
+1825,ORPHA:1065,Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome,PAX6,Pax6<em1(IMPC)Mbp> hom embryo,26.75,HP:0000526,MP:0001293
+1826,ORPHA:107,Bor Syndrome,SIX1,Six1<em1(IMPC)Mbp> het early,12.055,HP:0000175,MP:0009476
+1827,ORPHA:107,Bor Syndrome,SIX1,Six1<em1(IMPC)Mbp> het embryo,16.31,"HP:0100272,HP:0009796,HP:0009794","MP:0001711,MP:0003231"
+1828,ORPHA:107,Bor Syndrome,SIX1,Six1<em1(IMPC)Mbp> het late,30.965,"HP:0000076,HP:0008678,HP:0000126,HP:0000083,HP:0100581,HP:0000074,HP:0000003","MP:0002989,MP:0002135,MP:0003068"
+1829,ORPHA:107,Bor Syndrome,SIX1,Six1<em1(IMPC)Mbp> hom embryo,15.895,"HP:0100272,HP:0009796,HP:0009794","MP:0001711,MP:0003984"
+1830,ORPHA:110,Bardet-Biedl Syndrome,MKS1,Mks1<tm1a(EUCOMM)Wtsi> het early,14.855,"HP:0002155,HP:0003233,HP:0002230,HP:0010747","MP:0010090,MP:0000579"
+1831,ORPHA:110,Bardet-Biedl Syndrome,BBS10,Bbs10<tm1.1(KOMP)Vlcg> het early,13.815,"HP:0002155,HP:0003233",MP:0005633
+1832,ORPHA:110,Bardet-Biedl Syndrome,BBS5,Bbs5<tm1b(EUCOMM)Wtsi> hom early,42.975,"HP:0001762,HP:0001156,HP:0025691,HP:0008915,HP:0001627,HP:0000548,HP:0001159,HP:0001513,HP:0000556,HP:0001397,HP:0000855,HP:0005978,HP:0001382,HP:0003233,HP:0001395,HP:0001251,HP:0100259,HP:0005769,HP:0001638,HP:0002155,HP:0006101,HP:0001257","MP:0000745,MP:0001406,MP:0002644,MP:0004953,MP:0002764,MP:0002941,MP:0002834,MP:0005343,MP:0003961,MP:0005559,MP:0000063,MP:0001325,MP:0002968,MP:0013279,MP:0005293"
+1833,ORPHA:110,Bardet-Biedl Syndrome,BBS4,Bbs4<tm1b(EUCOMM)Hmgu> het early,27.535,"HP:0100543,HP:0000712,HP:0000736,HP:0000716","MP:0001399,MP:0020870,MP:0001417"
+1834,ORPHA:110,Bardet-Biedl Syndrome,BBS7,Bbs7<tm1b(EUCOMM)Wtsi> het early,32.465,"HP:0002155,HP:0003233,HP:0000518,HP:0000483","MP:0002941,MP:0001303,MP:0005633"
+1835,ORPHA:110,Bardet-Biedl Syndrome,IFT74,Ift74<tm1b(EUCOMM)Hmgu> hom early,29.41,"HP:0000789,HP:0000858,HP:0008724,HP:0000135",MP:0001925
+1836,ORPHA:110,Bardet-Biedl Syndrome,IFT172,Ift172<tm2b(EUCOMM)Hmgu> het early,29.425,"HP:0000548,HP:0100259,HP:0005769,HP:0001762,HP:0001159,HP:0000556,HP:0006101,HP:0001156","MP:0010097,MP:0002110"
+1837,ORPHA:110,Bardet-Biedl Syndrome,IFT172,Ift172<tm2b(EUCOMM)Hmgu> hom embryo,28.25,"HP:0000822,HP:0000470,HP:0001638,HP:0001627,HP:0004322","MP:0000288,MP:0001914,MP:0003984,MP:0002884,MP:0000266"
+1838,ORPHA:110,Bardet-Biedl Syndrome,NPHP1,Nphp1<tm1.1(KOMP)Vlcg> hom early,38.93,"HP:0008736,HP:0100543,HP:0000147,HP:0000135,HP:0000821,HP:0000818,HP:0011026,HP:0000789,HP:0008734,HP:0000858,HP:0005978,HP:0008724,HP:0030010,HP:0000716,HP:0000712,HP:0000736,HP:0000028","MP:0001146,MP:0001120,MP:0001417,MP:0001147,MP:0001925,MP:0009709,MP:0004906"
+1839,ORPHA:110,Bardet-Biedl Syndrome,CEP19,Cep19<tm1b(EUCOMM)Hmgu> hom early,36.2,"HP:0000548,HP:0010747,HP:0008915,HP:0000556,HP:0001513,HP:0000135,HP:0001638,HP:0001627,HP:0000789,HP:0002155,HP:0000858,HP:0002230,HP:0000855,HP:0008724,HP:0001382,HP:0005978,HP:0003233,HP:0025691","MP:0002834,MP:0005419,MP:0003731,MP:0002966,MP:0003961,MP:0000063,MP:0001510,MP:0001925,MP:0001926,MP:0005567,MP:0011965,MP:0005292"
+1840,ORPHA:110,Bardet-Biedl Syndrome,SCAPER,Scaper<tm1b(EUCOMM)Hmgu> hom early,29.39,"HP:0000789,HP:0000858,HP:0008724,HP:0000135",MP:0001925
+1841,ORPHA:110,Bardet-Biedl Syndrome,BBS2,Bbs2<em2(IMPC)Wtsi> het early,13.78,"HP:0001513,HP:0008915",MP:0003961
+1842,ORPHA:110,Bardet-Biedl Syndrome,SCLT1,Sclt1<em1(IMPC)Tcp> het early,39.765,"HP:0002155,HP:0003233",MP:0001552
+1843,ORPHA:110,Bardet-Biedl Syndrome,SCLT1,Sclt1<em1(IMPC)Tcp> hom embryo,37.42,"HP:0100259,HP:0005769,HP:0001159,HP:0001762,HP:0006101,HP:0001156",MP:0000562
+1844,ORPHA:110,Bardet-Biedl Syndrome,CEP290,Cep290<em1(IMPC)Mbp> hom embryo,18.03,"HP:0000822,HP:0001638",MP:0001914
+1845,ORPHA:110,Bardet-Biedl Syndrome,CFAP418,Cfap418<em1(IMPC)J> hom early,26.145,"HP:0100543,HP:0000712,HP:0000736,HP:0000716",MP:0001417
+1846,ORPHA:110,Bardet-Biedl Syndrome,BBIP1,Bbip1<em1(IMPC)Ccpcz> het early,20.635,"HP:0000147,HP:0000470,HP:0008734,HP:0001397,HP:0008724,HP:0001395,HP:0000028","MP:0000160,MP:0001944"
+1847,ORPHA:110,Bardet-Biedl Syndrome,BBS12,Bbs12<em1(IMPC)Ccpcz> het early,28.67,"HP:0000147,HP:0001638,HP:0001627,HP:0008734,HP:0001397,HP:0008724,HP:0001395,HP:0000028","MP:0000703,MP:0000689,MP:0000274,MP:0000709,MP:0000691,MP:0000266"
+1848,ORPHA:110,Bardet-Biedl Syndrome,BBS9,Bbs9<em1(IMPC)Bay> het early,24.395,"HP:0002155,HP:0003233",MP:0001556
+1849,ORPHA:1106,Microphthalmia With Limb Anomalies,SMOC1,Smoc1<tm1a(EUCOMM)Wtsi> het early,16.225,HP:0000534,MP:0002075
+1850,ORPHA:1106,Microphthalmia With Limb Anomalies,SMOC1,Smoc1<tm1b(EUCOMM)Wtsi> het early,38.815,"HP:0000347,HP:0000327,HP:0010650",MP:0000455
+1851,ORPHA:1106,Microphthalmia With Limb Anomalies,SMOC1,Smoc1<tm1b(EUCOMM)Wtsi> hom early,63.36,"HP:0002817,HP:0001762,HP:0000347,HP:0005916,HP:0002814,HP:0003038,HP:0000534,HP:0010650,HP:0003026,HP:0001215,HP:0007598,HP:0011304,HP:0001162,HP:0008368,HP:0000581,HP:0005736,HP:0001849,HP:0001852,HP:0000327,HP:0001830,HP:0004209,HP:0009380,HP:0003042,HP:0000648,HP:0006487,HP:0002982,HP:0002827,HP:0005048,HP:0006101,HP:0001770,HP:0001172","MP:0006243,MP:0002764,MP:0005287,MP:0010097,MP:0001325,MP:0002110,MP:0000564,MP:0004509,MP:0008259,MP:0002792,MP:0000455"
+1852,ORPHA:1146,Distal Arthrogryposis Type 1,TNNI2,Tnni2<tm1.1(KOMP)Vlcg> het early,14.38,HP:0100490,MP:0010025
+1853,ORPHA:1149,Kuskokwim Syndrome,FKBP10,Fkbp10<tm2a(EUCOMM)Wtsi> het early,21.63,HP:0001387,MP:0002896
+1854,ORPHA:115,Congenital Contractural Arachnodactyly,FBN2,Fbn2<em1(IMPC)Rbrc> hom early,39.205,"HP:0001371,HP:0100490,HP:0002803,HP:0002804,HP:0008453,HP:0001166,HP:0001634,HP:0002650,HP:0001083,HP:0001387","MP:0002932,MP:0000558,MP:0001314,MP:0000559,MP:0004609,MP:0000572,MP:0005298,MP:0002110,MP:0000564,MP:0004509,MP:0005108,MP:0000274,MP:0000552,MP:0005296,MP:0004599,MP:0002187,MP:0005542,MP:0000266"
+1855,ORPHA:115,Congenital Contractural Arachnodactyly,FBN2,Fbn2<em1(IMPC)Rbrc> hom late,23.58,HP:0001634,"MP:0004857,MP:0000274,MP:0000266"
+1856,ORPHA:117,Behçet Disease,IL23R,Il23r<tm2a(EUCOMM)Wtsi> hom early,22.44,HP:0011227,MP:0002941
+1857,ORPHA:117,Behçet Disease,IL12A,Il12a<tm1b(EUCOMM)Hmgu> hom early,18.75,"HP:0001369,HP:0011227,HP:0010885","MP:0001556,MP:0004609"
+1858,ORPHA:117,Behçet Disease,TLR4,Tlr4<tm1.1(KOMP)Vlcg> hom early,21.31,"HP:0000031,HP:0002239,HP:0100796,HP:0002014,HP:0003249","MP:0009476,MP:0001120,MP:0004906,MP:0000494"
+1859,ORPHA:117,Behçet Disease,ERAP1,Erap1<tm2b(EUCOMM)Wtsi> hom early,20.8,"HP:0100584,HP:0012819,HP:0001701,HP:0001637,HP:0001744","MP:0002833,MP:0005505"
+1860,ORPHA:117,Behçet Disease,ERAP1,Erap1<tm2b(EUCOMM)Wtsi> hom late,27.425,"HP:0002039,HP:0001733,HP:0011227,HP:0000737,HP:0001824,HP:0001744","MP:0005419,MP:0003960,MP:0000598,MP:0001399"
+1861,ORPHA:117,Behçet Disease,UBAC2,Ubac2<tm1e.1(EUCOMM)Hmgu> hom early,14.87,"HP:0002239,HP:0002014",MP:0009476
+1862,ORPHA:117,Behçet Disease,IFNGR1,Ifngr1<em1(IMPC)Mbp> hom early,33.995,"HP:0000518,HP:0001097",MP:0001304
+1863,ORPHA:117,Behçet Disease,STAT4,Stat4<em1(IMPC)Mbp> hom early,35.43,"HP:0000083,HP:0000099,HP:0000518,HP:0001097","MP:0002989,MP:0002135,MP:0001304,MP:0001314"
+1864,ORPHA:1171,Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome,ATP1A3,Atp1a3<tm1b(EUCOMM)Hmgu> het early,44.535,"HP:0100543,HP:0002015,HP:0001251","MP:0001392,MP:0001364,MP:0001399,MP:0001415"
+1865,ORPHA:1173,Cerebellar Ataxia-Hypogonadism Syndrome,RNF216,Rnf216<tm1b(EUCOMM)Wtsi> hom early,33.78,"HP:0000144,HP:0000044,HP:0000135",MP:0001925
+1866,ORPHA:1190,Atelosteogenesis Type I,FLNB,Flnb<tm1b(KOMP)Wtsi> het early,28.08,"HP:0009107,HP:0004599","MP:0010124,MP:0000063"
+1867,ORPHA:1194,Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy,TMEM70,Tmem70<em2(IMPC)Bay> het embryo,34.305,"HP:0001511,HP:0001510","MP:0003984,MP:0001697"
+1868,ORPHA:1194,Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy,TMEM70,Tmem70<em2(IMPC)Bay> hom embryo,33.725,"HP:0001511,HP:0001510","MP:0003984,MP:0001697"
+1869,ORPHA:1195,Congenital Atransferrinemia,TF,Trf<em1(IMPC)J> het early,45.545,HP:0001903,MP:0005561
+1870,ORPHA:1195,Congenital Atransferrinemia,TF,Trf<em1(IMPC)J> het late,45.03,HP:0001903,"MP:0002590,MP:0005561"
+1871,ORPHA:1195,Congenital Atransferrinemia,TF,Trf<em1(IMPC)Rbrc> het late,22.96,HP:0001903,MP:0012362
+1872,ORPHA:1215,Autosomal Dominant Optic Atrophy Plus Syndrome,OPA1,Opa1<em1(IMPC)Bay> hom embryo,23.34,HP:0001638,MP:0000266
+1873,ORPHA:122,Birt-Hogg-Dubé Syndrome,PRDM10,Prdm10<tm1b(EUCOMM)Hmgu> het early,31.405,HP:0001012,MP:0010025
+1874,ORPHA:1231,Barber-Say Syndrome,TWIST2,Twist2<tm1.1(KOMP)Vlcg> het early,24.71,"HP:0000049,HP:0002557,HP:0100783","MP:0001147,MP:0001146"
+1875,ORPHA:124,Diamond-Blackfan Anemia,RPS20,Rps20<em1(IMPC)Bay> het early,19.04,HP:0001254,MP:0001417
+1876,ORPHA:1263,Boomerang Dysplasia,FLNB,Flnb<tm1b(KOMP)Wtsi> het early,41.645,"HP:0100569,HP:0100856,HP:0001539,HP:0011849","MP:0010124,MP:0010024,MP:0000063"
+1877,ORPHA:127,Borjeson-Forssman-Lehmann Syndrome,PHF6,Phf6<tm1b(EUCOMM)Wtsi> het early,19.97,"HP:0000365,HP:0009748",MP:0004738
+1878,ORPHA:1272,Aymé-Gripp Syndrome,MAF,Maf<em1(IMPC)Mbp> het late,40.605,"HP:0000519,HP:0000093,HP:0000518,HP:0001701,HP:0000485,HP:0001698,HP:0003187,HP:0000028","MP:0002989,MP:0002135,MP:0001304,MP:0003068,MP:0009552,MP:0004832,MP:0001126,MP:0000274,MP:0000266"
+1879,ORPHA:1272,Aymé-Gripp Syndrome,MAF,Maf<em1(IMPC)Mbp> hom embryo,22.81,"HP:0004322,HP:0008897,HP:0001698","MP:0003984,MP:0001785"
+1880,ORPHA:1275,Brachydactyly-Elbow Wrist Dysplasia Syndrome,PITX1,Pitx1<em1(IMPC)Wtsi> het early,54.675,"HP:0031095,HP:0005048,HP:0006501,HP:0040071,HP:0004209,HP:0009832,HP:0003042,HP:0001156","MP:0008730,MP:0000559,MP:0000572,MP:0002110,MP:0004083,MP:0000558,MP:0002932"
+1881,ORPHA:1299,Branchioskeletogenital Syndrome,CDH11,Cdh11<em1(IMPC)Mbp> hom early,23.44,"HP:0002836,HP:0000054,HP:0000252,HP:0002561,HP:0000808,HP:0000042,HP:0000071","MP:0001146,MP:0002135,MP:0003068,MP:0011496,MP:0001147"
+1882,ORPHA:1300,Autosomal Dominant Popliteal Pterygium Syndrome,IRF6,Irf6<em1(IMPC)Wtsi> hom early,21.1,HP:0008288,"MP:0005343,MP:0010090,MP:0005553"
+1883,ORPHA:1333,Familial Pancreatic Carcinoma,PALB2,Palb2<tm1.1(KOMP)Vlcg> het early,22.855,HP:0000819,MP:0002079
+1884,ORPHA:1334,Chronic Mucocutaneous Candidiasis,IL17RA,Il17ra<em1(IMPC)Mbp> hom early,39.11,"HP:0000142,HP:0012115","MP:0001120,MP:0000601,MP:0000598,MP:0001126"
+1885,ORPHA:1334,Chronic Mucocutaneous Candidiasis,IL17RC,Il17rc<em1(IMPC)Mbp> hom early,34.855,"HP:0000142,HP:0012115,HP:0000790","MP:0002989,MP:0002135,MP:0000689,MP:0001126,MP:0000691"
+1886,ORPHA:134,Beta-Ketothiolase Deficiency,ACAT1,Acat1<em1(IMPC)J> hom early,31.09,"HP:0012523,HP:0002039,HP:0000741,HP:0000713","MP:0001364,MP:0001399"
+1887,ORPHA:1340,Cardiofaciocutaneous Syndrome,MAP2K2,Map2k2<tm1a(EUCOMM)Wtsi> hom early,27.395,HP:0001531,MP:0001262
+1888,ORPHA:1359,Carney Complex,PDE11A,Pde11a<em1(IMPC)Mbp> hom early,43.12,"HP:0000138,HP:0011760,HP:0100619,HP:0025318,HP:0000845,HP:0006731,HP:0003118,HP:0100618,HP:0000870,HP:0000008,HP:0012206,HP:0000053,HP:0000798,HP:0025451,HP:0002894,HP:0001580,HP:0012041,HP:0012887,HP:0030269,HP:0002895,HP:0030075,HP:0000866,HP:0002890,HP:0025274,HP:0010788,HP:0000826","MP:0001146,MP:0001120,MP:0001126,MP:0001147,MP:0009709"
+1889,ORPHA:136,Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy,NOTCH3,Notch3<tm1.1(KOMP)Vlcg> hom early,38.31,"HP:0010992,HP:0000819","MP:0003068,MP:0002135,MP:0003917,MP:0005292"
+1890,ORPHA:1366,Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia,LSS,Lss<tm1b(KOMP)Wtsi> het early,40.91,HP:0000518,MP:0001303
+1891,ORPHA:1369,Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome,SLC25A4,Slc25a4<tm1a(EUCOMM)Wtsi> hom early,21.875,HP:0001639,MP:0002833
+1892,ORPHA:1369,Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome,TKFC,Tkfc<em1(IMPC)Ccpcz> hom early,27.035,HP:0001639,"MP:0000274,MP:0000266"
+1893,ORPHA:137605,Legius Syndrome,SPRED1,Spred1<em1(IMPC)Ccpcz> hom early,42.74,"HP:0007565,HP:0000752,HP:0007018,HP:0002667,HP:0100615,HP:0030052,HP:0001642,HP:0000787,HP:0000997,HP:0004845,HP:0032077,HP:0001634,HP:0002650,HP:0001332","MP:0013520,MP:0010168,MP:0001157,MP:0004952,MP:0004609,MP:0001126,MP:0013523,MP:0000709,MP:0011239,MP:0000691,MP:0000137,MP:0020421,MP:0001486,MP:0000703,MP:0002059,MP:0002797,MP:0010850,MP:0000274,MP:0004599,MP:0000266,MP:0004613,MP:0003917,MP:0000219,MP:0000745,MP:0008039,MP:0013772,MP:0000689,MP:0005016"
+1894,ORPHA:137634,Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome,RNF135,Rnf135<em1(IMPC)Tcp> hom late,22.81,HP:0012741,"MP:0002637,MP:0001127"
+1895,ORPHA:137667,Capillary Malformation-Arteriovenous Malformation,RASA1,Rasa1<tm1b(EUCOMM)Hmgu> het early,20.93,HP:0001627,MP:0002833
+1896,ORPHA:1377,Cataract-Microcornea Syndrome,MAF,Maf<em1(IMPC)Mbp> het late,50.6,"HP:0001131,HP:0000612,HP:0000518,HP:0007957,HP:0000482",MP:0001304
+1897,ORPHA:137888,Auriculocondylar Syndrome,PLCB4,Plcb4<tm1b(EUCOMM)Wtsi> hom early,19.87,"HP:0009895,HP:0008772,HP:0000358,HP:0000377,HP:0000365,HP:0030022,HP:0009902",MP:0004738
+1898,ORPHA:138,Charge Syndrome,SEMA3E,Sema3e<em1(IMPC)H> hom early,33.175,"HP:0000648,HP:0000612,HP:0000567,HP:0000589","MP:0006243,MP:0010097,MP:0001325,MP:0001319,MP:0001289,MP:0006241"
+1899,ORPHA:1387,Cataract-Intellectual Disability-Hypogonadism Syndrome,RAB3GAP2,Rab3gap2<tm1b(KOMP)Wtsi> hom early,42.55,HP:0000518,MP:0001304
+1900,ORPHA:1388,Catel-Manzke Syndrome,TGDS,Tgds<em1(IMPC)Mbp> hom embryo,29.23,"HP:0001629,HP:0001631","MP:0000266,MP:0000269"
+1901,ORPHA:139396,X-Linked Cerebral Adrenoleukodystrophy,ABCD1,Abcd1<tm1a(EUCOMM)Wtsi> hem early,23.685,HP:0004359,MP:0008821
+1902,ORPHA:139399,Adrenomyeloneuropathy,ABCD1,Abcd1<tm1a(EUCOMM)Wtsi> hem early,22.995,HP:0004359,MP:0008821
+1903,ORPHA:139471,Microphthalmia With Brain And Digit Anomalies,BMP4,Bmp4<tm1b(EUCOMM)Hmgu> het early,47.875,"HP:0000647,HP:0000556,HP:0000612,HP:0000518,HP:0000482,HP:0000567","MP:0001322,MP:0003731,MP:0001325,MP:0003733,MP:0008259,MP:0011960,MP:0011965"
+1904,ORPHA:139471,Microphthalmia With Brain And Digit Anomalies,BMP4,Bmp4<tm1b(EUCOMM)Hmgu> het embryo,44.55,"HP:0000568,HP:0000528",MP:0001297
+1905,ORPHA:139536,Distal Hereditary Motor Neuropathy Type 5,BSCL2,Bscl2<tm1b(EUCOMM)Hmgu> hom early,42.855,"HP:0001761,HP:0002317,HP:0001765,HP:0009053,HP:0008081","MP:0001406,MP:0001402,MP:0002764"
+1906,ORPHA:139536,Distal Hereditary Motor Neuropathy Type 5,GARS1,Gars1<em1(IMPC)Tcp> het early,21.93,HP:0001765,MP:0000157
+1907,ORPHA:140952,Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome,CCNQ,Ccnq<tm1.1(KOMP)Vlcg> het embryo,16.6,HP:0004322,MP:0003984
+1908,ORPHA:1412,Tarsal-Carpal Coalition Syndrome,NOG,Nog<em1(IMPC)Mbp> hom embryo,19.895,HP:0004322,MP:0003984
+1909,ORPHA:141291,Cleft Lip And Alveolus,MSX1,Msx1<tm1b(KOMP)Wtsi> het early,21.795,HP:0002015,MP:0020870
+1910,ORPHA:141291,Cleft Lip And Alveolus,MSX1,Msx1<tm1b(KOMP)Wtsi> hom embryo,25.965,"HP:0100267,HP:0000668",MP:0000111
+1911,ORPHA:1416,Familial Calcium Pyrophosphate Deposition,TNFRSF11B,Tnfrsf11b<em1(IMPC)Mbp> hom early,40.78,"HP:0001369,HP:0002758,HP:0004349,HP:0100769,HP:0031013,HP:0001376,HP:0001387","MP:0010124,MP:0003795,MP:0000063"
+1912,ORPHA:1422,Chondrodysplasia-Difference Of Sex Development Syndrome,HHAT,Hhat<em1(IMPC)Ccpcz> hom embryo,37.895,"HP:0007676,HP:0010049,HP:0003043,HP:0005622,HP:0009803,HP:0000252,HP:0002983,HP:0000400,HP:0002644","MP:0002177,MP:0011496,MP:0002102,MP:0000564,MP:0001293"
+1913,ORPHA:1425,Desbuquois Syndrome,XYLT1,Xylt1<em1(IMPC)J> het early,32.755,"HP:0000499,HP:0008070",MP:0002075
+1914,ORPHA:1425,Desbuquois Syndrome,XYLT1,Xylt1<em1(IMPC)J> hom embryo,19.185,"HP:0002812,HP:0200055,HP:0003366,HP:0000944,HP:0100490,HP:0002974,HP:0004209,HP:0002673",MP:0002109
+1915,ORPHA:1426,Greenberg Dysplasia,LBR,Lbr<em1(IMPC)Tcp> hom early,47.175,"HP:0008905,HP:0006619,HP:0009106,HP:0002983,HP:0100569,HP:0000347,HP:0011849,HP:0001881,HP:0004331,HP:0001156","MP:0002764,MP:0000556,MP:0000220,MP:0005562,MP:0002110,MP:0000063,MP:0010124,MP:0003795,MP:0005016,MP:0000550,MP:0000219"
+1916,ORPHA:144,Lynch Syndrome,MLH1,Mlh1<tm1b(EUCOMM)Hmgu> hom early,18.09,"HP:0006725,HP:0012114,HP:0100615,HP:0001402,HP:0009720,HP:0002893,HP:0100684,HP:0002896,HP:0100031,HP:0002894","MP:0001147,MP:0004952"
+1917,ORPHA:144,Lynch Syndrome,TGFBR2,Tgfbr2<em1(IMPC)Rbrc> het early,28.5,"HP:0006725,HP:0009726,HP:0001402,HP:0002896,HP:0100571,HP:0002894","MP:0000601,MP:0003068,MP:0000598,MP:0000274,MP:0000266"
+1918,ORPHA:1452,Cleidocranial Dysplasia,RUNX2,Runx2<em1(IMPC)Rbrc> het early,57.47,"HP:0000670,HP:0011069,HP:0000347,HP:0005107,HP:0000684,HP:0001156,HP:0005916,HP:0003298,HP:0000303,HP:0000939,HP:0000682,HP:0002857,HP:0004209,HP:0004331,HP:0001182,HP:0002812,HP:0000894,HP:0000882,HP:0005930,HP:0010669,HP:0002644,HP:0002650,HP:0008821,HP:0200021,HP:0001172","MP:0005298,MP:0010124,MP:0003795,MP:0004509,MP:0005270,MP:0004599,MP:0005296,MP:0000137"
+1919,ORPHA:1454,Joubert Syndrome With Hepatic Defect,INPP5E,Inpp5e<tm1.1(KOMP)Vlcg> het early,12.66,HP:0001409,MP:0006203
+1920,ORPHA:1454,Joubert Syndrome With Hepatic Defect,INPP5E,Inpp5e<tm1.1(KOMP)Vlcg> hom embryo,37.84,"HP:0007360,HP:0001320,HP:0002085,HP:0000238,HP:0001162","MP:0002109,MP:0003720,MP:0000562,MP:0000841,MP:0001697"
+1921,ORPHA:1458,Codas Syndrome,LONP1,Lonp1<tm1b(EUCOMM)Hmgu> het early,37.95,HP:0000518,MP:0001303
+1922,ORPHA:1465,Coffin-Siris Syndrome,DPF2,Dpf2<tm1b(EUCOMM)Hmgu> het early,28.665,"HP:0000047,HP:0000028,HP:0000085","MP:0002135,MP:0002059"
+1923,ORPHA:1465,Coffin-Siris Syndrome,DPF2,Dpf2<tm1b(EUCOMM)Hmgu> hom embryo,30.225,"HP:0001629,HP:0001631,HP:0001627,HP:0030084,HP:0001636,HP:0009237,HP:0001511","MP:0002109,MP:0001697,MP:0000266"
+1924,ORPHA:1465,Coffin-Siris Syndrome,SMARCB1,Smarcb1<tm1b(EUCOMM)Hmgu> het early,21.25,"HP:0002209,HP:0000294,HP:0000574,HP:0000998,HP:0001007,HP:0011231",MP:0001510
+1925,ORPHA:1465,Coffin-Siris Syndrome,ARID1B,Arid1b<em1(IMPC)Tcp> het early,26.195,"HP:0000718,HP:0012523,HP:0000752,HP:0002884","MP:0020421,MP:0020420,MP:0000689,MP:0001417"
+1926,ORPHA:1465,Coffin-Siris Syndrome,SMARCC2,Smarcc2<em1(IMPC)J> het early,24.455,"HP:0000718,HP:0012523,HP:0000752,HP:0000365","MP:0004738,MP:0020870"
+1927,ORPHA:1465,Coffin-Siris Syndrome,SOX4,Sox4<em1(IMPC)Mbp> het early,26.31,"HP:0000718,HP:0000752,HP:0000047,HP:0002884,HP:0012523,HP:0000028","MP:0020421,MP:0001120,MP:0009342,MP:0005084,MP:0004906"
+1928,ORPHA:1465,Coffin-Siris Syndrome,SOX4,Sox4<em1(IMPC)Mbp> hom embryo,28.815,"HP:0001629,HP:0001631,HP:0001627,HP:0001636",MP:0000266
+1929,ORPHA:147,Carbamoyl-Phosphate Synthetase 1 Deficiency,CPS1,Cps1<em1(IMPC)H> het early,33.215,"HP:0005961,HP:0001951,HP:0001987","MP:0005178,MP:0001556,MP:0005628"
+1930,ORPHA:1493,Vici Syndrome,EPG5,Epg5<em1(IMPC)H> hom early,18.17,"HP:0001638,HP:0001387","MP:0002626,MP:0000062"
+1931,ORPHA:1501,Adrenocortical Carcinoma,TP53,Trp53<tm1b(EUCOMM)Hmgu> het early,15.195,HP:0002900,MP:0010091
+1932,ORPHA:1507,Autosomal Recessive Robinow Syndrome,NXN,Nxn<tm1b(EUCOMM)Wtsi> het early,39.085,"HP:0009882,HP:0000347,HP:0000527,HP:0000637,HP:0001156,HP:0001171,HP:0000286,HP:0000582,HP:0003272,HP:0100490,HP:0000508,HP:0007598,HP:0011304,HP:0003196,HP:0001852,HP:0000431,HP:0004209,HP:0003042,HP:0000028,HP:0000494,HP:0001596,HP:0005048,HP:0010059,HP:0006101,HP:0001770,HP:0003027","MP:0001340,MP:0002764,MP:0002768,MP:0000443,MP:0002110,MP:0000627"
+1933,ORPHA:1507,Autosomal Recessive Robinow Syndrome,NXN,Nxn<tm1b(EUCOMM)Wtsi> hom embryo,36.065,"HP:0010807,HP:0001537,HP:0002714,HP:0000174,HP:0011069,HP:0000154,HP:0000164,HP:0000212,HP:0004397,HP:0000343,HP:0000322,HP:0010296,HP:0010804,HP:0002007,HP:0000202,HP:0002263,HP:0000668,HP:0010297","MP:0000111,MP:0011495,MP:0008797,MP:0001697"
+1934,ORPHA:1507,Autosomal Recessive Robinow Syndrome,NXN,Nxn<em1(IMPC)J> hom embryo,35.595,"HP:0010807,HP:0001537,HP:0002714,HP:0000174,HP:0011069,HP:0000154,HP:0000164,HP:0000212,HP:0004397,HP:0000343,HP:0000322,HP:0010296,HP:0010804,HP:0002263,HP:0000202,HP:0000668,HP:0010297","MP:0000111,MP:0008797,MP:0001697"
+1935,ORPHA:1507,Autosomal Recessive Robinow Syndrome,NXN,Nxn<em1(IMPC)Mbp> het embryo,12.43,HP:0001537,MP:0003054
+1936,ORPHA:1507,Autosomal Recessive Robinow Syndrome,NXN,Nxn<em1(IMPC)Mbp> hom embryo,12.43,HP:0001537,MP:0003054
+1937,ORPHA:1507,Autosomal Recessive Robinow Syndrome,NXN,Nxn<em1(IMPC)Bay> hom embryo,30.39,"HP:0001537,HP:0002007,HP:0000202","MP:0011495,MP:0008797,MP:0001697"
+1938,ORPHA:1507,Autosomal Recessive Robinow Syndrome,ROR2,Ror2<em1(IMPC)Mbp> hom embryo,41.76,"HP:0009882,HP:0002714,HP:0000174,HP:0011069,HP:0010296,HP:0008873,HP:0000668,HP:0001156,HP:0001171,HP:0001537,HP:0003272,HP:0100490,HP:0004397,HP:0007598,HP:0011304,HP:0010297,HP:0010807,HP:0001852,HP:0010804,HP:0000202,HP:0004209,HP:0003042,HP:0000154,HP:0000164,HP:0005048,HP:0010059,HP:0006101,HP:0000212,HP:0000343,HP:0000322,HP:0002263,HP:0001770,HP:0003027","MP:0002109,MP:0003231,MP:0003984,MP:0000562,MP:0001711,MP:0000111"
+1939,ORPHA:1513,Craniodiaphyseal Dysplasia,SP7,Sp7<em1(IMPC)Ccpcz> hom embryo,39.89,"HP:0002007,HP:0004493",MP:0011495
+1940,ORPHA:1515,Cranioectodermal Dysplasia,IFT122,Ift122<tm1a(EUCOMM)Wtsi> het early,36.72,"HP:0000940,HP:0008905,HP:0009882,HP:0000944,HP:0006101,HP:0004209,HP:0001156",MP:0004357
+1941,ORPHA:1515,Cranioectodermal Dysplasia,IFT52,Ift52<em1(IMPC)Bay> het embryo,15.355,HP:0008905,MP:0003984
+1942,ORPHA:1522,Craniometaphyseal Dysplasia,GJA1,Gja1<em1(IMPC)Ccpcz> het early,32.08,"HP:0011002,HP:0004493",MP:0003795
+1943,ORPHA:1522,Craniometaphyseal Dysplasia,GJA1,Gja1<em1(IMPC)Ccpcz> hom embryo,30.515,HP:0004493,MP:0011495
+1944,ORPHA:154,Familial Isolated Dilated Cardiomyopathy,MYBPC3,Mybpc3<tm1a(EUCOMM)Hmgu> hom early,26.425,HP:0001644,"MP:0002833,MP:0000266"
+1945,ORPHA:154,Familial Isolated Dilated Cardiomyopathy,TPM1,Tpm1<tm1a(EUCOMM)Wtsi> het early,21.09,HP:0001644,MP:0002833
+1946,ORPHA:154,Familial Isolated Dilated Cardiomyopathy,PSEN1,Psen1<tm1.1(KOMP)Vlcg> het embryo,47.33,HP:0000969,MP:0001785
+1947,ORPHA:154,Familial Isolated Dilated Cardiomyopathy,PSEN1,Psen1<tm1.1(KOMP)Vlcg> hom embryo,53.165,"HP:0025169,HP:0001635,HP:0011675,HP:0000969,HP:0001644","MP:0001914,MP:0001785"
+1948,ORPHA:154,Familial Isolated Dilated Cardiomyopathy,LDB3,Ldb3<tm2b(EUCOMM)Hmgu> het early,34.755,"HP:0011675,HP:0025169,HP:0001635,HP:0001644",MP:0010392
+1949,ORPHA:154,Familial Isolated Dilated Cardiomyopathy,LAMA4,Lama4<tm1.1(KOMP)Vlcg> hom early,21.22,HP:0001644,MP:0002833
+1950,ORPHA:154,Familial Isolated Dilated Cardiomyopathy,DSG2,Dsg2<tm1b(EUCOMM)Wtsi> hom early,39.69,"HP:0011675,HP:0025169,HP:0001635,HP:0001644","MP:0002833,MP:0002753,MP:0005140"
+1951,ORPHA:154,Familial Isolated Dilated Cardiomyopathy,MYBPC3,Mybpc3<tm1b(EUCOMM)Hmgu> hom early,44.535,"HP:0011675,HP:0025169,HP:0001635,HP:0001644","MP:0010392,MP:0010511,MP:0003233"
+1952,ORPHA:154,Familial Isolated Dilated Cardiomyopathy,DSP,Dsp<em1(IMPC)Mbp> hom embryo,24.85,HP:0001644,MP:0000266
+1953,ORPHA:154,Familial Isolated Dilated Cardiomyopathy,DMD,Dmd<em1(IMPC)Hmgu> hem early,37.26,HP:0100578,MP:0010025
+1954,ORPHA:154,Familial Isolated Dilated Cardiomyopathy,DMD,Dmd<em1(IMPC)Hmgu> hom early,36.18,HP:0100578,MP:0010025
+1955,ORPHA:154,Familial Isolated Dilated Cardiomyopathy,RBM20,Rbm20<em1(IMPC)Mbp> hom early,23.985,HP:0001644,MP:0000277
+1956,ORPHA:154,Familial Isolated Dilated Cardiomyopathy,PSEN2,Psen2<em1(IMPC)Ccpcz> hom early,24.395,HP:0001644,MP:0000266
+1957,ORPHA:1545,Crisponi Syndrome,CLCF1,Clcf1<tm1.1(KOMP)Vlcg> het early,31.055,"HP:0001376,HP:0001371,HP:0100490,HP:0001645","MP:0003233,MP:0000062"
+1958,ORPHA:1556,Cutis Marmorata Telangiectatica Congenita,GNA11,Gna11<tm1a(EUCOMM)Wtsi> hom early,32.175,HP:0004349,MP:0000063
+1959,ORPHA:1556,Cutis Marmorata Telangiectatica Congenita,GNA11,Gna11<tm1b(EUCOMM)Wtsi> hom early,20.885,"HP:0004349,HP:0002650",MP:0004609
+1960,ORPHA:1556,Cutis Marmorata Telangiectatica Congenita,ARL6IP6,Arl6ip6<em1(IMPC)Bay> hom early,31.28,HP:0000541,"MP:0003733,MP:0003731"
+1961,ORPHA:1571,Knobloch Syndrome,COL18A1,Col18a1<tm1.1(KOMP)Vlcg> hom early,43.085,"HP:0007773,HP:0000518,HP:0000541,HP:0000608,HP:0001083,HP:0004327","MP:0005102,MP:0010097,MP:0001325,MP:0001319,MP:0001303,MP:0008259,MP:0002792,MP:0006241"
+1962,ORPHA:1572,Common Variable Immunodeficiency,NFKB1,Nfkb1<tm1a(KOMP)Wtsi> hom early,28.805,"HP:0001973,HP:0001888,HP:0001744,HP:0001878","MP:0000218,MP:0005562"
+1963,ORPHA:1572,Common Variable Immunodeficiency,CD19,Cd19<em2(IMPC)Ics> hom early,39.905,"HP:0001973,HP:0001888,HP:0001744,HP:0001878","MP:0000220,MP:0005016"
+1964,ORPHA:157798,Serrated Polyposis Syndrome,RNF43,Rnf43<em1(IMPC)Tcp> hom early,13.565,"HP:0006725,HP:0100574",MP:0000691
+1965,ORPHA:157846,Neuroferritinopathy,FTL,Ftl1<em1(IMPC)Rbrc> hom early,35.955,"HP:0002067,HP:0001288","MP:0001406,MP:0001402"
+1966,ORPHA:157846,Neuroferritinopathy,FTL,Ftl1<em1(IMPC)Rbrc> hom late,19.035,HP:0012343,MP:0004152
+1967,ORPHA:157973,Congenital Muscular Dystrophy Due To Lmna Mutation,LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,13.47,HP:0001883,MP:0002764
+1968,ORPHA:158684,Epidermolysis Bullosa Simplex With Pyloric Atresia,PLEC,Plec<em1(IMPC)Bay> hom embryo,25.995,HP:0001561,MP:0001785
+1969,ORPHA:158687,Lethal Acantholytic Erosive Disorder,JUP,Jup<tm1.1(KOMP)Vlcg> hom embryo,29.075,"HP:0001562,HP:0001511","MP:0001697,MP:0001785"
+1970,ORPHA:158687,Lethal Acantholytic Erosive Disorder,DSP,Dsp<em1(IMPC)Mbp> hom embryo,26.28,"HP:0001638,HP:0001640,HP:0000695","MP:0002884,MP:0000266"
+1971,ORPHA:1606,1P36 Deletion Syndrome,PDPN,Pdpn<tm1b(EUCOMM)Wtsi> het early,13.805,"HP:0000534,HP:0002230,HP:0011228",MP:0001284
+1972,ORPHA:1606,1P36 Deletion Syndrome,CASZ1,Casz1<tm1b(EUCOMM)Hmgu> het early,17.62,"HP:0000648,HP:0001644,HP:0001009","MP:0001289,MP:0003900"
+1973,ORPHA:1606,1P36 Deletion Syndrome,KCNAB2,Kcnab2<em1(IMPC)Mbp> hom early,27.5,"HP:0001743,HP:0000733,HP:0001513,HP:0002015,HP:0002591,HP:0100490,HP:0001508,HP:0100716","MP:0002339,MP:0000702,MP:0003961,MP:0010024,MP:0001399"
+1974,ORPHA:1606,1P36 Deletion Syndrome,SKI,Ski<em1(IMPC)Bay> het early,22.495,HP:0001288,MP:0001402
+1975,ORPHA:163681,Cntnap2-Related Developmental And Epileptic Encephalopathy,CNTNAP2,Cntnap2<em1(IMPC)H> hom early,32.625,"HP:0000718,HP:0000752,HP:0001268,HP:0000744,HP:0007064",MP:0001415
+1976,ORPHA:163690,Hypotonia-Cystinuria Syndrome,SLC3A1,Slc3a1<tm1.1(KOMP)Vlcg> hom early,35.3,"HP:0001508,HP:0003131,HP:0000787","MP:0002989,MP:0002135,MP:0011874,MP:0003917,MP:0003068,MP:0003960,MP:0011625,MP:0009552,MP:0008528,MP:0000538"
+1977,ORPHA:163693,2P21 Microdeletion Syndrome,CAMKMT,Camkmt<tm1b(EUCOMM)Wtsi> hom early,35.71,"HP:0003131,HP:0002901","MP:0005565,MP:0005633,MP:0005553"
+1978,ORPHA:163693,2P21 Microdeletion Syndrome,SLC3A1,Slc3a1<tm1.1(KOMP)Vlcg> hom early,36.995,"HP:0001508,HP:0003131,HP:0002901,HP:0000787","MP:0002989,MP:0002135,MP:0011874,MP:0003917,MP:0001556,MP:0003068,MP:0003960,MP:0011625,MP:0009552,MP:0008528,MP:0002968,MP:0000538,MP:0005178,MP:0005565"
+1979,ORPHA:163956,"X-Linked Intellectual Disability, Nascimento Type",UBE2A,Ube2a<tm1.1(KOMP)Vlcg> hem early,31.735,"HP:0000718,HP:0000722",MP:0001399
+1980,ORPHA:163956,"X-Linked Intellectual Disability, Nascimento Type",UBE2A,Ube2a<tm1.1(KOMP)Vlcg> hom early,20.675,"HP:0001629,HP:0001655,HP:0001718,HP:0001636,HP:0003265,HP:0001719","MP:0002833,MP:0005419"
+1981,ORPHA:166002,Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly,COL9A2,Col9a2<tm1b(EUCOMM)Wtsi> hom early,65.785,"HP:0003999,HP:0003045,HP:0010631,HP:0006190,HP:0012770,HP:0003946,HP:0002758,HP:0003365,HP:0010665,HP:0003028,HP:0002515,HP:0002857,HP:0002970,HP:0002815,HP:0002812,HP:0006055,HP:0005930,HP:0009826,HP:0009189","MP:0002764,MP:0001402,MP:0000559,MP:0004509,MP:0005108,MP:0000552,MP:0005296,MP:0000558,MP:0002932"
+1982,ORPHA:166100,Autosomal Dominant Otospondylomegaepiphyseal Dysplasia,COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,35.865,"HP:0000347,HP:0000272","MP:0005270,MP:0000455"
+1983,ORPHA:166100,Autosomal Dominant Otospondylomegaepiphyseal Dysplasia,COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,49.935,"HP:0000162,HP:0000175,HP:0005916,HP:0000343","MP:0002109,MP:0009908,MP:0000111"
+1984,ORPHA:166119,Isolated Osteopoikilosis,LEMD3,Lemd3<em1(IMPC)Bay> het early,29.28,"HP:0001627,HP:0030955","MP:0001364,MP:0001399,MP:0002953,MP:0020870"
+1985,ORPHA:1662,Restrictive Dermopathy,LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,15.33,"HP:0010219,HP:0000347,HP:0006710,HP:0100490",MP:0002764
+1986,ORPHA:167,Chédiak-Higashi Syndrome,LYST,Lyst<tm1b(EUCOMM)Wtsi> hom early,46.82,"HP:0004527,HP:0031408,HP:0001922,HP:0001288,HP:0001744,HP:0001010,HP:0001875,HP:0001903,HP:0001433,HP:0007730,HP:0002540,HP:0007703,HP:0005585,HP:0012156,HP:0001881,HP:0001251,HP:0005599,HP:0001876,HP:0012176,HP:0001873,HP:0011990","MP:0002590,MP:0001322,MP:0001402,MP:0005561,MP:0001325,MP:0002075"
+1987,ORPHA:1675,Dihydropyrimidine Dehydrogenase Deficiency,DPYD,Dpyd<tm1b(KOMP)Wtsi> hom early,33.715,"HP:0000718,HP:0000218,HP:0002540,HP:0000737","MP:0002574,MP:0000470,MP:0001399"
+1988,ORPHA:168569,H Syndrome,SLC29A3,Slc29a3<em1(IMPC)Wtsi> hom early,43.075,"HP:0000819,HP:0001433,HP:0100790,HP:0002155,HP:0009125,HP:0100727,HP:0012385,HP:0001935","MP:0002599,MP:0010067,MP:0003179,MP:0005560,MP:0005179,MP:0002644,MP:0002941,MP:0005419,MP:0000183,MP:0005642,MP:0008806,MP:0000208,MP:0002875,MP:0005562,MP:0003019,MP:0010025,MP:0005567,MP:0002874,MP:0005633,MP:0000218,MP:0005344,MP:0004151,MP:0005343,MP:0000186"
+1989,ORPHA:168569,H Syndrome,SLC29A3,Slc29a3<em1(IMPC)Mbp> hom early,49.195,"HP:0000054,HP:0000105,HP:0001433,HP:0007380,HP:0000135,HP:0100776,HP:0008734,HP:0000027,HP:0002110,HP:0100727,HP:0011025,HP:0002716,HP:0001935","MP:0002135,MP:0001175,MP:0000702,MP:0002637,MP:0001157,MP:0001120,MP:0000598,MP:0004952,MP:0000691,MP:0002989,MP:0000703,MP:0002059,MP:0000706,MP:0002981,MP:0010506,MP:0002339,MP:0000689,MP:0005333,MP:0000599"
+1990,ORPHA:168796,"Heart-Hand Syndrome, Slovenian Type",LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,25.375,"HP:0001156,HP:0001760",MP:0002764
+1991,ORPHA:169095,Severe Combined Immunodeficiency Due To Foxn1 Deficiency,FOXN1,Foxn1<tm1.1(KOMP)Vlcg> hom early,23.765,HP:0005403,"MP:0000703,MP:0000705"
+1992,ORPHA:169186,Autosomal Recessive Centronuclear Myopathy,RYR1,Ryr1<tm1b(EUCOMM)Hmgu> het early,15.645,HP:0001712,MP:0004952
+1993,ORPHA:169189,Autosomal Dominant Centronuclear Myopathy,MTMR14,Mtmr14<tm1a(KOMP)Wtsi> hom early,35.655,HP:0008180,"MP:0002941,MP:0005343,MP:0008806,MP:0002944"
+1994,ORPHA:169189,Autosomal Dominant Centronuclear Myopathy,DNM2,Dnm2<tm1.1(KOMP)Vlcg> het early,34.435,"HP:0000028,HP:0008180","MP:0009709,MP:0002968,MP:0004906"
+1995,ORPHA:170,Woolly Hair,KRT71,Krt71<em1(IMPC)Bay> hom early,65.78,"HP:0005599,HP:0002217,HP:0005338,HP:0002231,HP:0002299,HP:0010719,HP:0002224,HP:0002213","MP:0001510,MP:0000367,MP:0002075"
+1996,ORPHA:171,Primary Sclerosing Cholangitis,SEMA4D,Sema4d<tm1b(EUCOMM)Wtsi> hom early,42.35,"HP:0001733,HP:0000938,HP:0001402,HP:0100575,HP:0003073,HP:0030153,HP:0001744,HP:0002240,HP:0001433,HP:0000952,HP:0001541,HP:0000939,HP:0012440,HP:0001396,HP:0001395,HP:0001081,HP:0001394,HP:0001409,HP:0012115","MP:0010124,MP:0002968,MP:0000691,MP:0000274"
+1997,ORPHA:171430,Severe Congenital Nemaline Myopathy,LMOD3,Lmod3<em1(IMPC)Mbp> het early,18.57,"HP:0000047,HP:0000054","MP:0003068,MP:0002135"
+1998,ORPHA:171430,Severe Congenital Nemaline Myopathy,LMOD3,Lmod3<em1(IMPC)Mbp> het late,18.55,"HP:0000047,HP:0000054","MP:0002989,MP:0002135,MP:0009709"
+1999,ORPHA:171430,Severe Congenital Nemaline Myopathy,LMOD3,Lmod3<em1(IMPC)Mbp> hom early,35.74,"HP:0009025,HP:0001371,HP:0000054,HP:0003202,HP:0000047,HP:0002804,HP:0000775,HP:0003803,HP:0005855,HP:0010628,HP:0001349,HP:0003798","MP:0011874,MP:0000759,MP:0000063,MP:0010024,MP:0010025,MP:0000538"
+2000,ORPHA:171436,Typical Nemaline Myopathy,LMOD3,Lmod3<em1(IMPC)Mbp> het late,19.935,HP:0003236,MP:0005565
+2001,ORPHA:171436,Typical Nemaline Myopathy,LMOD3,Lmod3<em1(IMPC)Mbp> hom early,38.125,"HP:0001371,HP:0003198,HP:0003236,HP:0002515,HP:0003325,HP:0002804,HP:0003803,HP:0030196,HP:0030198,HP:0009027,HP:0030200,HP:0010628,HP:0003557,HP:0001349,HP:0003798,HP:0001288","MP:0000759,MP:0001402,MP:0000063,MP:0009142,MP:0010024,MP:0010025,MP:0000186"
+2002,ORPHA:171445,Muscle Filaminopathy,FLNC,Flnc<em1(IMPC)Bay> hom embryo,27.5,"HP:0001712,HP:0001638","MP:0000266,MP:0000269"
+2003,ORPHA:171629,Autosomal Recessive Spastic Paraplegia Type 35,FA2H,Fa2h<em1(IMPC)Mbp> hom early,23.825,"HP:0100515,HP:0000648,HP:0010677,HP:0000020","MP:0003068,MP:0002135,MP:0002699,MP:0001325"
+2004,ORPHA:171695,Parkinsonian-Pyramidal Syndrome,SNCA,Snca<em1(IMPC)H> hom early,25.735,HP:0002362,MP:0001392
+2005,ORPHA:171706,Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency,SECISBP2,Secisbp2<tm1a(EUCOMM)Wtsi> het early,21.43,HP:0031903,MP:0005634
+2006,ORPHA:1727,22Q11.2 Duplication Syndrome,TBX1,Tbx1<em1(IMPC)Mbp> hom embryo,18.285,HP:0001510,MP:0003984
+2007,ORPHA:1766,Dysequilibrium Syndrome,CA8,Car8<em1(IMPC)Bay> hom early,54.575,"HP:0001251,HP:0001288",MP:0001406
+2008,ORPHA:1775,Dyskeratosis Congenita,NHP2,Nhp2<tm1a(KOMP)Wtsi> het early,29.475,"HP:0001903,HP:0001873,HP:0001874,HP:0001744",MP:0002599
+2009,ORPHA:1775,Dyskeratosis Congenita,WRAP53,Wrap53<tm1b(EUCOMM)Wtsi> het early,17.545,"HP:0002240,HP:0001744",MP:0002833
+2010,ORPHA:1782,Dysosteosclerosis,SLC29A3,Slc29a3<em1(IMPC)Wtsi> hom early,12.185,HP:0000682,MP:0010025
+2011,ORPHA:1782,Dysosteosclerosis,SLC29A3,Slc29a3<em1(IMPC)Mbp> hom early,31.39,"HP:0008479,HP:0000926,HP:0003301",MP:0002759
+2012,ORPHA:1782,Dysosteosclerosis,TCIRG1,Tcirg1<em1(IMPC)Ccpcz> het early,25.8,"HP:0000648,HP:0001629","MP:0002792,MP:0000274,MP:0000266"
+2013,ORPHA:178333,Åland Islands Eye Disease,CACNA1F,Cacna1f<tm1.1(KOMP)Vlcg> hom early,37.375,"HP:0007894,HP:0007750",MP:0001333
+2014,ORPHA:179494,Obesity Due To Leptin Receptor Gene Deficiency,LEPR,Lepr<tm1b(EUCOMM)Wtsi> hom early,48.02,"HP:0000831,HP:0001513,HP:0000842,HP:0002591,HP:0008734,HP:0002155,HP:0008724,HP:0000815,HP:0005407,HP:0000786,HP:0000712,HP:0008245","MP:0002965,MP:0002599,MP:0001157,MP:0010067,MP:0003179,MP:0003961,MP:0005568,MP:0001566,MP:0005564,MP:0002590,MP:0002644,MP:0002941,MP:0005561,MP:0001925,MP:0001926,MP:0001363,MP:0008806,MP:0000221,MP:0001556,MP:0005178,MP:0005011,MP:0005627,MP:0008810,MP:0001417,MP:0000219,MP:0003020,MP:0004953,MP:0000194,MP:0000220,MP:0005559,MP:0002968,MP:0005016,MP:0005343,MP:0002608"
+2015,ORPHA:181,X-Linked Hypohidrotic Ectodermal Dysplasia,EDA,Eda<em1(IMPC)Tcp> hem early,14.525,HP:0000830,MP:0001944
+2016,ORPHA:181,X-Linked Hypohidrotic Ectodermal Dysplasia,EDA,Eda<em1(IMPC)Tcp> hom early,16.035,HP:0009882,MP:0000157
+2017,ORPHA:1826,Frontometaphyseal Dysplasia,MAP3K7,Map3k7<tm1b(EUCOMM)Wtsi> het early,28.615,"HP:0000481,HP:0000483",MP:0001303
+2018,ORPHA:1830,Schimke Immuno-Osseous Dysplasia,SMARCAL1,Smarcal1<tm1a(EUCOMM)Wtsi> hom early,32.325,"HP:0410373,HP:0001903,HP:0001888,HP:0410377,HP:0001875,HP:0001873",MP:0005564
+2019,ORPHA:1848,"Renal Agenesis, Bilateral",ITGA8,Itga8<tm1b(KOMP)Wtsi> het early,34.42,HP:0001958,MP:0005560
+2020,ORPHA:1848,"Renal Agenesis, Bilateral",GREB1L,Greb1l<em1(IMPC)J> hom embryo,24.51,HP:0010497,"MP:0003984,MP:0003720,MP:0001700"
+2021,ORPHA:1848,"Renal Agenesis, Bilateral",FGF20,Fgf20<em1(IMPC)Ccpcz> hom early,42.675,"HP:0002242,HP:0010497,HP:0100335,HP:0002575,HP:0005107,HP:0000008,HP:0000175","MP:0004613,MP:0000556,MP:0002059,MP:0001120,MP:0000572,MP:0002100,MP:0004609,MP:0003883,MP:0002110,MP:0000470,MP:0004599,MP:0000137"
+2022,ORPHA:1856,Spondyloperipheral Dysplasia-Short Ulna Syndrome,COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,30.605,"HP:0005106,HP:0000926,HP:0003300",MP:0000160
+2023,ORPHA:1856,Spondyloperipheral Dysplasia-Short Ulna Syndrome,COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,44,"HP:0003022,HP:0008812,HP:0045060,HP:0010743,HP:0010055,HP:0000175,HP:0005863","MP:0002109,MP:0009908,MP:0000111"
+2024,ORPHA:186,Primary Biliary Cholangitis,IRF5,Irf5<tm1e(EUCOMM)Wtsi> hom early,13.055,HP:0001744,"MP:0000221,MP:0010836"
+2025,ORPHA:186,Primary Biliary Cholangitis,IL12RB1,Il12rb1<tm1b(KOMP)Wtsi> hom early,31.915,"HP:0000953,HP:0001744","MP:0002874,MP:0011239"
+2026,ORPHA:186,Primary Biliary Cholangitis,IL12A,Il12a<tm1b(EUCOMM)Hmgu> hom early,42.3,"HP:0001114,HP:0003124,HP:0003119,HP:0000939,HP:0002908,HP:0002570,HP:0003073","MP:0001556,MP:0004609"
+2027,ORPHA:186,Primary Biliary Cholangitis,POU2AF1,Pou2af1<tm1b(KOMP)Wtsi> hom early,32.325,"HP:0001394,HP:0001409,HP:0000952,HP:0001402,HP:0012115,HP:0011040,HP:0001395,HP:0002240,HP:0002613,HP:0001744","MP:0000219,MP:0004953,MP:0005016"
+2028,ORPHA:1872,Cone Rod Dystrophy,CACNA1F,Cacna1f<tm1.1(KOMP)Vlcg> hom early,43.785,"HP:0007843,HP:0007703,HP:0001105,HP:0000543,HP:0007737",MP:0001333
+2029,ORPHA:1872,Cone Rod Dystrophy,DRAM2,Dram2<tm1b(EUCOMM)Wtsi> hom early,19.49,"HP:0007737,HP:0007703",MP:0002075
+2030,ORPHA:1872,Cone Rod Dystrophy,CACNA2D4,Cacna2d4<em1(IMPC)J> hom early,52.045,"HP:0007843,HP:0007703,HP:0001105,HP:0000543,HP:0007737","MP:0010097,MP:0001325"
+2031,ORPHA:1872,Cone Rod Dystrophy,RAB28,Rab28<em1(IMPC)J> hom early,18.175,"HP:0007737,HP:0007703",MP:0002075
+2032,ORPHA:1872,Cone Rod Dystrophy,TLCD3B,Tlcd3b<em1(IMPC)Bay> hom early,52.345,"HP:0007843,HP:0007703,HP:0001105,HP:0000543,HP:0007737","MP:0003731,MP:0011965,MP:0001325"
+2033,ORPHA:1872,Cone Rod Dystrophy,CRX,Crx<em1(IMPC)Ccpcz> hom early,44.555,"HP:0007843,HP:0007703,HP:0001105,HP:0000543,HP:0007737",MP:0001325
+2034,ORPHA:1885,Isolated Ectopia Lentis,ADAMTSL4,Adamtsl4<em1(IMPC)J> hom late,68.42,"HP:0009918,HP:0000518,HP:0001083","MP:0001304,MP:0006241,MP:0001319"
+2035,ORPHA:189427,Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease,KDM1A,Kdm1a<tm1(NCOM)Mfgc> het early,22.805,"HP:0012030,HP:0001397,HP:0000787","MP:0002989,MP:0000692,MP:0000601"
+2036,ORPHA:1899,Arthrochalasia Ehlers-Danlos Syndrome,COL1A2,Col1a2<tm1b(EUCOMM)Wtsi> hom early,38.07,"HP:0100541,HP:0002812,HP:0100699,HP:0002827,HP:0000023,HP:0001001,HP:0001382,HP:0001387,HP:0001385,HP:0002673,HP:0005743","MP:0010025,MP:0000558,MP:0000559,MP:0000062"
+2037,ORPHA:193,Cohen Syndrome,VPS13B,Vps13b<em1(IMPC)Tcp> hom early,30.485,"HP:0001629,HP:0001531,HP:0001513,HP:0000612,HP:0001634,HP:0001875","MP:0002590,MP:0000692,MP:0001304,MP:0003961,MP:0002188,MP:0001303,MP:0005016,MP:0000221"
+2038,ORPHA:1934,Early Infantile Epileptic Encephalopathy,DMXL2,Dmxl2<tm1a(EUCOMM)Wtsi> het early,15.695,"HP:0001537,HP:0001508","MP:0003961,MP:0010024"
+2039,ORPHA:1934,Early Infantile Epileptic Encephalopathy,SIK1,Sik1<tm1.1(KOMP)Vlcg> hom early,22.83,"HP:0001629,HP:0000054,HP:0001537,HP:0000110,HP:0001508,HP:0000070","MP:0002833,MP:0003960,MP:0003917,MP:0010025"
+2040,ORPHA:1934,Early Infantile Epileptic Encephalopathy,GNAO1,Gnao1<tm1b(EUCOMM)Hmgu> het early,38.095,"HP:0001266,HP:0000752,HP:0002015,HP:0001337,HP:0100716,HP:0002131,HP:0001254,HP:0001332","MP:0001364,MP:0001399,MP:0001523"
+2041,ORPHA:1934,Early Infantile Epileptic Encephalopathy,PIGQ,Pigq<tm2b(EUCOMM)Wtsi> hom embryo,24.64,"HP:0001629,HP:0001537,HP:0009381,HP:0001500,HP:0010174","MP:0003984,MP:0001722,MP:0003720,MP:0001726,MP:0001691,MP:0001700,MP:0001706,MP:0001697,MP:0005650,MP:0000266,MP:0000288,MP:0001718,MP:0002151,MP:0002861,MP:0000269,MP:0002884,MP:0001672,MP:0003229,MP:0002824"
+2042,ORPHA:1934,Early Infantile Epileptic Encephalopathy,GRM7,Grm7<em1(IMPC)H> hom early,39.755,"HP:0001266,HP:0000752,HP:0002015,HP:0001337,HP:0100716,HP:0002131,HP:0001254,HP:0001332","MP:0001364,MP:0001399,MP:0001513,MP:0001523"
+2043,ORPHA:1934,Early Infantile Epileptic Encephalopathy,NEUROD2,Neurod2<em1(IMPC)Hmgu> het early,36.395,"HP:0002015,HP:0000752,HP:0001254,HP:0100716","MP:0001399,MP:0001415"
+2044,ORPHA:1934,Early Infantile Epileptic Encephalopathy,NEUROD2,Neurod2<em1(IMPC)Hmgu> hom early,42.365,"HP:0001266,HP:0000752,HP:0002015,HP:0001337,HP:0009381,HP:0100716,HP:0001500,HP:0002131,HP:0010174,HP:0001254,HP:0001332","MP:0001489,MP:0002764,MP:0001402,MP:0011940,MP:0002797,MP:0002757,MP:0001363,MP:0001415,MP:0001392,MP:0001399"
+2045,ORPHA:1934,Early Infantile Epileptic Encephalopathy,PNKP,Pnkp<em1(IMPC)Mbp> het early,23.53,"HP:0000110,HP:0000054,HP:0000070","MP:0003068,MP:0002135,MP:0003604"
+2046,ORPHA:1942,Myoclonic-Astatic Epilepsy,CHD2,Chd2<tm1b(EUCOMM)Hmgu> hom early,19.895,HP:0001159,MP:0002764
+2047,ORPHA:1942,Myoclonic-Astatic Epilepsy,NEXMIF,Nexmif<em1(IMPC)Tcp> hem early,43.39,"HP:0100851,HP:0000752,HP:0007018,HP:0001159","MP:0009454,MP:0000157,MP:0001399"
+2048,ORPHA:1942,Myoclonic-Astatic Epilepsy,NEXMIF,Nexmif<em1(IMPC)Tcp> het early,44.145,"HP:0100851,HP:0000752,HP:0007018,HP:0001159","MP:0000157,MP:0001399"
+2049,ORPHA:1947,"Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type",CLN8,Cln8<em1(IMPC)Mbp> hom early,25.81,HP:0000543,"MP:0002699,MP:0001325"
+2050,ORPHA:198,Occipital Horn Syndrome,ATP7A,Atp7a<em1(IMPC)J> hem early,27.03,"HP:0002208,HP:0100874",MP:0002075
+2051,ORPHA:198,Occipital Horn Syndrome,ATP7A,Atp7a<em1(IMPC)J> hem late,18.135,"HP:0002208,HP:0100874",MP:0000367
+2052,ORPHA:198,Occipital Horn Syndrome,ATP7A,Atp7a<em1(IMPC)J> hom early,27.03,"HP:0002208,HP:0100874",MP:0002075
+2053,ORPHA:1980,Bilateral Striopallidodentate Calcinosis,SLC20A2,Slc20a2<tm1a(EUCOMM)Wtsi> hom early,39.52,HP:0007957,"MP:0001304,MP:0001303,MP:0001322,MP:0001319"
+2054,ORPHA:1980,Bilateral Striopallidodentate Calcinosis,JAM2,Jam2<tm1.1(KOMP)Mbp> hom early,22.39,HP:0002240,MP:0002833
+2055,ORPHA:1980,Bilateral Striopallidodentate Calcinosis,SLC20A2,Slc20a2<tm1b(EUCOMM)Wtsi> het early,38.285,HP:0007957,MP:0001303
+2056,ORPHA:1980,Bilateral Striopallidodentate Calcinosis,SLC20A2,Slc20a2<tm1b(EUCOMM)Wtsi> hom early,41.68,HP:0007957,"MP:0001304,MP:0001303"
+2057,ORPHA:1980,Bilateral Striopallidodentate Calcinosis,PDGFRB,Pdgfrb<tm1b(EUCOMM)Hmgu> het early,23.385,HP:0002240,MP:0000274
+2058,ORPHA:199,Cornelia De Lange Syndrome,HDAC8,Hdac8<tm1a(EUCOMM)Wtsi> hem early,15.12,"HP:0002974,HP:0001387",MP:0000063
+2059,ORPHA:199,Cornelia De Lange Syndrome,HDAC8,Hdac8<tm1a(EUCOMM)Wtsi> hom early,15.15,"HP:0002974,HP:0001387",MP:0000063
+2060,ORPHA:199,Cornelia De Lange Syndrome,SMC3,Smc3<tm1a(EUCOMM)Wtsi> het early,29.015,"HP:0003196,HP:0002162,HP:0000664,HP:0000294,HP:0002553,HP:0000574,HP:0001508,HP:0002557,HP:0002230,HP:0000527,HP:0001956,HP:0007665","MP:0000443,MP:0002075,MP:0001262"
+2061,ORPHA:199,Cornelia De Lange Syndrome,BRD4,Brd4<tm1b(EUCOMM)Wtsi> het early,31.24,"HP:0200055,HP:0012165,HP:0001385,HP:0002827,HP:0001773,HP:0000518,HP:0002983,HP:0009623,HP:0000347,HP:0001883,HP:0002974,HP:0040071,HP:0004209,HP:0001770,HP:0010034,HP:0000482","MP:0011959,MP:0002764"
+2062,ORPHA:199302,Isolated Cleft Lip,MSX1,Msx1<tm1b(KOMP)Wtsi> het early,18.56,HP:0001696,MP:0002833
+2063,ORPHA:199302,Isolated Cleft Lip,MSX1,Msx1<tm1b(KOMP)Wtsi> hom embryo,35.895,"HP:0100335,HP:0000220,HP:0001572,HP:0006332,HP:0000668,HP:0100336",MP:0000111
+2064,ORPHA:199306,Cleft Lip/Palate,MSX1,Msx1<tm1b(KOMP)Wtsi> het early,19.775,HP:0200136,MP:0020870
+2065,ORPHA:199306,Cleft Lip/Palate,MSX1,Msx1<tm1b(KOMP)Wtsi> hom embryo,54.405,"HP:0100334,HP:0200153,HP:0000220,HP:0000689,HP:0100337,HP:0006342,HP:0011044,HP:0000202,HP:0000175,HP:0006292,HP:0010294",MP:0000111
+2066,ORPHA:199306,Cleft Lip/Palate,BMP4,Bmp4<tm1b(EUCOMM)Hmgu> het early,20.3,HP:0200136,"MP:0001364,MP:0001399"
+2067,ORPHA:199306,Cleft Lip/Palate,ARHGAP29,Arhgap29<em1(IMPC)J> het early,18.35,"HP:0000403,HP:0000405",MP:0004738
+2068,ORPHA:199306,Cleft Lip/Palate,COBLL1,Cobll1<em1(IMPC)Ccpcz> hom early,47.225,"HP:0100334,HP:0200153,HP:0000220,HP:0000689,HP:0100337,HP:0006342,HP:0000327,HP:0000202,HP:0011044,HP:0000175,HP:0006292,HP:0010294",MP:0013129
+2069,ORPHA:199343,East Syndrome,KCNJ10,Kcnj10<tm1b(KOMP)Wtsi> het early,39.93,"HP:0002345,HP:0001251","MP:0000745,MP:0001488"
+2070,ORPHA:201,Cowden Syndrome,SDHC,Sdhc<tm1a(EUCOMM)Wtsi> het early,20.16,HP:0001508,MP:0001260
+2071,ORPHA:201,Cowden Syndrome,SDHB,Sdhb<tm1b(EUCOMM)Hmgu> het early,21.735,"HP:0000036,HP:0001251","MP:0002135,MP:0001402"
+2072,ORPHA:2020,Congenital Fiber-Type Disproportion Myopathy,SELENON,Selenon<tm1a(KOMP)Wtsi> hom early,25.575,"HP:0006380,HP:0001371,HP:0012785,HP:0002987,HP:0006466,HP:0003273,HP:0001374,HP:0002650,HP:0003307,HP:0002751",MP:0004609
+2073,ORPHA:2020,Congenital Fiber-Type Disproportion Myopathy,HACD1,Hacd1<em1(IMPC)Mbp> het embryo,24.925,HP:0001561,MP:0001785
+2074,ORPHA:2020,Congenital Fiber-Type Disproportion Myopathy,HACD1,Hacd1<em1(IMPC)Mbp> hom embryo,28.855,"HP:0001561,HP:0000218,HP:0000678","MP:0000111,MP:0001785"
+2075,ORPHA:2021,Fibrochondrogenesis,COL11A1,Col11a1<em1(IMPC)Bay> hom embryo,41.77,"HP:0000940,HP:0000160,HP:0000944,HP:0100490,HP:0002983,HP:0000175,HP:0001156","MP:0002109,MP:0009908,MP:0000111"
+2076,ORPHA:2036,Scalp-Ear-Nipple Syndrome,KCTD1,Kctd1<em1(IMPC)J> hom early,35.745,"HP:0000822,HP:0000518","MP:0001304,MP:0006203,MP:0005542,MP:0012121"
+2077,ORPHA:2050,Cole-Carpenter Syndrome,P4HB,P4hb<tm1b(KOMP)Wtsi> hom embryo,31.98,"HP:0004322,HP:0001511",MP:0003984
+2078,ORPHA:2052,Fraser Syndrome,FRAS1,Fras1<em1(IMPC)Ccpcz> het early,30.775,HP:0003422,MP:0000137
+2079,ORPHA:2059,Fryns Syndrome,PIGN,Pign<em1(IMPC)Mbp> het early,35.725,"HP:0000076,HP:0000047,HP:0000126,HP:0000813,HP:0000003,HP:0000028","MP:0002989,MP:0001146,MP:0002135,MP:0001148"
+2080,ORPHA:2059,Fryns Syndrome,PIGN,Pign<em1(IMPC)Mbp> hom embryo,36.785,"HP:0001561,HP:0000175,HP:0100335,HP:0000568","MP:0008797,MP:0001293,MP:0001785"
+2081,ORPHA:2065,Galloway-Mowat Syndrome,LAGE3,Lage3<em1(IMPC)Tcp> hem early,18.43,"HP:0001181,HP:0100490",MP:0000157
+2082,ORPHA:206546,Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers,DMD,Dmd<em1(IMPC)Hmgu> hem early,41.91,"HP:0002987,HP:0003236","MP:0002941,MP:0005343,MP:0010025,MP:0000063"
+2083,ORPHA:206546,Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers,DMD,Dmd<em1(IMPC)Hmgu> hom early,43.485,"HP:0002987,HP:0003236","MP:0002965,MP:0002941,MP:0005568,MP:0002968,MP:0010025,MP:0005343"
+2084,ORPHA:207,Crouzon Syndrome,ERF,Erf<tm1.1(KOMP)Mbp> het early,28.42,"HP:0000327,HP:0000189",MP:0002100
+2085,ORPHA:2072,Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome,GBA1,Gba1<em1(IMPC)H> het early,12.885,"HP:0002092,HP:0004406",MP:0010392
+2086,ORPHA:2072,Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome,GBA1,Gba1<em1(IMPC)H> hom embryo,27.56,"HP:0005619,HP:0002650",MP:0004174
+2087,ORPHA:2073,Narcolepsy Type 1,HCRT,Hcrt<tm1.1(KOMP)Vlcg> hom early,25.28,"HP:0000822,HP:0001279","MP:0005333,MP:0010506"
+2088,ORPHA:2088,Fanconi-Bickel Syndrome,SLC2A2,Slc2a2<tm1b(KOMP)Wtsi> het early,43.055,"HP:0002148,HP:0000819,HP:0011998,HP:0002150,HP:0002155,HP:0040270,HP:0003076,HP:0003162","MP:0006353,MP:0013279"
+2089,ORPHA:2089,Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency,GYS2,Gys2<tm1a(KOMP)Wtsi> hom early,48.4,"HP:0011998,HP:0001508,HP:0012734,HP:0003077,HP:0003076","MP:0000194,MP:0003442,MP:0005633,MP:0003960,MP:0005568,MP:0003019,MP:0001262,MP:0005560"
+2090,ORPHA:2098,"Acromesomelic Dysplasia, Grebe Type",GDF5,Gdf5<em1(IMPC)H> hom early,45.16,"HP:0006487,HP:0008368,HP:0001831,HP:0005914,HP:0003038,HP:0001773,HP:0005736,HP:0100387,HP:0005048,HP:0002983,HP:0009601,HP:0001156,HP:0001387,HP:0001162","MP:0000556,MP:0000572,MP:0000062,MP:0002110,MP:0000550"
+2091,ORPHA:2098,"Acromesomelic Dysplasia, Grebe Type",BMPR1B,Bmpr1b<em1(IMPC)Mbp> hom early,27.99,"HP:0006487,HP:0008368,HP:0001831,HP:0005914,HP:0003038,HP:0001773,HP:0005736,HP:0100387,HP:0005048,HP:0002983,HP:0009601,HP:0001156,HP:0001162",MP:0000572
+2092,ORPHA:209902,Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency,CYP7A1,Cyp7a1<tm1b(EUCOMM)Wtsi> hom early,49.26,"HP:0002155,HP:0003124,HP:0003141","MP:0011896,MP:0001556,MP:0005419,MP:0005344,MP:0002968,MP:0004151,MP:0005178"
+2093,ORPHA:209967,Episodic Ataxia Type 6,SLC1A3,Slc1a3<tm1.1(KOMP)Mbp> het early,25.055,HP:0001251,MP:0002574
+2094,ORPHA:209981,Irida Syndrome,TMPRSS6,Tmprss6<tm1b(EUCOMM)Wtsi> hom early,47.325,"HP:0025066,HP:0040303,HP:0031877,HP:0001596,HP:0012464,HP:0001598,HP:0001891,HP:0004840","MP:0000194,MP:0000367,MP:0008045,MP:0002591,MP:0002874,MP:0005562,MP:0001510,MP:0013648,MP:0005642,MP:0010850,MP:0008079,MP:0000208,MP:0002075,MP:0013676"
+2095,ORPHA:210110,Intermediate Osteopetrosis,PLEKHM1,Plekhm1<tm1b(EUCOMM)Hmgu> hom early,64.995,"HP:0002659,HP:0005746,HP:0003418,HP:0001293,HP:0004618,HP:0007958,HP:0004348,HP:0002757,HP:0002754,HP:0004975,HP:0005652,HP:0005789","MP:0002764,MP:0000062,MP:0010123,MP:0008259,MP:0000137"
+2096,ORPHA:210110,Intermediate Osteopetrosis,TCIRG1,Tcirg1<em1(IMPC)Ccpcz> het early,24.455,"HP:0001433,HP:0007958","MP:0002792,MP:0003917,MP:0000274"
+2097,ORPHA:210571,Dystonia 16,PRKRA,Prkra<em1(IMPC)H> hom early,23.98,HP:0002015,MP:0020421
+2098,ORPHA:2117,Hartsfield Syndrome,FGFR1,Fgfr1<tm1.1(KOMP)Vlcg> hom embryo,36.775,"HP:0001511,HP:0002084","MP:0003984,MP:0001697"
+2099,ORPHA:2126,Solitary Fibrous Tumor,NAB2,Nab2<tm1b(EUCOMM)Hmgu> hom early,27.08,"HP:0004912,HP:0030795,HP:0002896,HP:0002585","MP:0005179,MP:0000598,MP:0000186"
+2100,ORPHA:2131,Alternating Hemiplegia Of Childhood,SLC1A3,Slc1a3<tm1.1(KOMP)Mbp> het early,32.63,"HP:0000718,HP:0002039,HP:0200136,HP:0001266,HP:0002015,HP:0100710,HP:0001251,HP:0000712",MP:0002574
+2101,ORPHA:2131,Alternating Hemiplegia Of Childhood,ATP1A3,Atp1a3<tm1b(EUCOMM)Hmgu> het early,37.535,"HP:0000718,HP:0002039,HP:0200136,HP:0001266,HP:0002015,HP:0100710,HP:0001251,HP:0002344,HP:0000712","MP:0001392,MP:0001364,MP:0001399,MP:0001415"
+2102,ORPHA:2131,Alternating Hemiplegia Of Childhood,CACNA1A,Cacna1a<em1(IMPC)H> het early,31.39,"HP:0000718,HP:0002039,HP:0200136,HP:0002015,HP:0100710,HP:0000712",MP:0020421
+2103,ORPHA:2136,Hennekam Syndrome,CCBE1,Ccbe1<em1(IMPC)Mbp> het early,12.91,HP:0001744,"MP:0000601,MP:0000598"
+2104,ORPHA:2136,Hennekam Syndrome,CCBE1,Ccbe1<em1(IMPC)Mbp> hom embryo,35.38,"HP:0001541,HP:0001698,HP:0010310,HP:0001789,HP:0001004,HP:0001744","MP:0000603,MP:0001785"
+2105,ORPHA:215,Congenital Stationary Night Blindness,GRM6,Grm6<tm1b(EUCOMM)Wtsi> hom early,26.47,"HP:0030329,HP:0030638,HP:0030639,HP:0007703",MP:0006243
+2106,ORPHA:215,Congenital Stationary Night Blindness,TRPM1,Trpm1<tm1b(KOMP)Wtsi> hom early,26.74,"HP:0030329,HP:0030638,HP:0030639,HP:0007703",MP:0006243
+2107,ORPHA:215,Congenital Stationary Night Blindness,CACNA1F,Cacna1f<tm1.1(KOMP)Vlcg> hom early,26.715,"HP:0030329,HP:0030638,HP:0030639,HP:0007703",MP:0001333
+2108,ORPHA:215,Congenital Stationary Night Blindness,CACNA2D4,Cacna2d4<em1(IMPC)J> hom early,45.02,"HP:0030329,HP:0030638,HP:0030639,HP:0007703","MP:0010097,MP:0001325"
+2109,ORPHA:216866,Classic Pantothenate Kinase-Associated Neurodegeneration,PANK2,Pank2<em1(IMPC)Ccpcz> hom early,30.705,"HP:0100543,HP:0002015,HP:0007018","MP:0020421,MP:0001417"
+2110,ORPHA:216873,Atypical Pantothenate Kinase-Associated Neurodegeneration,PANK2,Pank2<em1(IMPC)Ccpcz> hom early,45.445,"HP:0100543,HP:0030216,HP:0002015,HP:0000722,HP:0000737,HP:0100710,HP:0008760,HP:0000716,HP:0000712","MP:0020421,MP:0001417"
+2111,ORPHA:217012,Spinocerebellar Ataxia Type 31,BEAN1,Bean1<em1(IMPC)H> hom early,45.315,HP:0002066,MP:0001406
+2112,ORPHA:217335,Rin2 Syndrome,RIN2,Rin2<em1(IMPC)Bay> hom early,28.58,HP:0100543,MP:0001417
+2113,ORPHA:2189,Hydrolethalus,HYLS1,Hyls1<em1(IMPC)Tcp> het early,20.305,"HP:0002983,HP:0001162",MP:0004357
+2114,ORPHA:2189,Hydrolethalus,HYLS1,Hyls1<em1(IMPC)Tcp> hom embryo,14.885,HP:0002323,"MP:0003984,MP:0001697,MP:0001700"
+2115,ORPHA:2198,Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome,RHBDF2,Rhbdf2<Rhbdf2> hom early,19.485,HP:0002240,MP:0002833
+2116,ORPHA:2203,Hyperlysinemia,AASS,Aass<em1(IMPC)Tcp> hom early,11.225,"HP:0003268,HP:0003131,HP:0003297,HP:0012403",MP:0011874
+2117,ORPHA:220386,Semilobar Holoprosencephaly,SHH,Shh<tm1Chg> het early,21.865,HP:0002451,"MP:0001513,MP:0001488"
+2118,ORPHA:220386,Semilobar Holoprosencephaly,DLL1,Dll1<tm1Gos> het early,37.825,"HP:0002020,HP:0002451,HP:0007018,HP:0005968,HP:0002015,HP:0002013,HP:0002540,HP:0000737,HP:0001508,HP:0000716,HP:0002019,HP:0000741,HP:0001254","MP:0001362,MP:0002862,MP:0002757,MP:0001262,MP:0012311,MP:0001399,MP:0005534"
+2119,ORPHA:220386,Semilobar Holoprosencephaly,NODAL,Nodal<tm1Rob> het early,21.365,HP:0002451,MP:0001486
+2120,ORPHA:220386,Semilobar Holoprosencephaly,FGFR1,Fgfr1<tm1.1(KOMP)Vlcg> hom embryo,16.58,"HP:0004322,HP:0045005,HP:0001510","MP:0003984,MP:0001697"
+2121,ORPHA:220386,Semilobar Holoprosencephaly,SHH,Shh<tm1b(EUCOMM)Wtsi> het early,14.3,"HP:0001371,HP:0001508","MP:0003961,MP:0010024"
+2122,ORPHA:220386,Semilobar Holoprosencephaly,NODAL,Nodal<tm1b(EUCOMM)Wtsi> het early,28.145,"HP:0031860,HP:0002540,HP:0001254","MP:0001402,MP:0005542"
+2123,ORPHA:220393,Diffuse Cutaneous Systemic Sclerosis,CCR6,Ccr6<tm1.1(KOMP)Vlcg> hom early,25.76,"HP:0001635,HP:0100585,HP:0002015,HP:0100735,HP:0002092","MP:0005333,MP:0001399,MP:0010506"
+2124,ORPHA:220393,Diffuse Cutaneous Systemic Sclerosis,CAV1,Cav1<em2(IMPC)Ics> hom early,23.73,"HP:0100735,HP:0001635,HP:0100585,HP:0002092","MP:0002626,MP:0005140"
+2125,ORPHA:220402,Limited Cutaneous Systemic Sclerosis,CCR6,Ccr6<tm1.1(KOMP)Vlcg> hom early,26.49,"HP:0002015,HP:0100579,HP:0100585,HP:0002092","MP:0005333,MP:0001399,MP:0010506"
+2126,ORPHA:220402,Limited Cutaneous Systemic Sclerosis,KIAA0319L,AU040320<em1(IMPC)J> hom early,24.385,"HP:0009473,HP:0008366,HP:0002015","MP:0001399,MP:0000063"
+2127,ORPHA:220402,Limited Cutaneous Systemic Sclerosis,KIAA0319L,AU040320<em1(IMPC)J> hom late,28.875,"HP:0001053,HP:0009473,HP:0002015,HP:0008366,HP:0001000","MP:0001399,MP:0002075,MP:0010024"
+2128,ORPHA:220402,Limited Cutaneous Systemic Sclerosis,CAV1,Cav1<em2(IMPC)Ics> hom early,22.475,"HP:0100579,HP:0100585,HP:0002092","MP:0002626,MP:0005140"
+2129,ORPHA:220493,Joubert Syndrome With Ocular Defect,MKS1,Mks1<tm1a(EUCOMM)Wtsi> het early,10.485,HP:0002553,MP:0000579
+2130,ORPHA:220493,Joubert Syndrome With Ocular Defect,INPP5E,Inpp5e<tm1.1(KOMP)Vlcg> hom embryo,50.885,"HP:0001829,HP:0001161,HP:0002084,HP:0000238,HP:0002419,HP:0001320","MP:0002109,MP:0003720,MP:0000562,MP:0000841,MP:0001697,MP:0000897"
+2131,ORPHA:220497,Joubert Syndrome With Renal Defect,NPHP1,Nphp1<tm1.1(KOMP)Vlcg> hom early,11.715,HP:0000864,MP:0001147
+2132,ORPHA:220497,Joubert Syndrome With Renal Defect,TMEM237,Tmem237<tm1b(EUCOMM)Hmgu> het early,21.49,"HP:0000864,HP:0002553,HP:0001161","MP:0000639,MP:0002768,MP:0001147,MP:0004357,MP:0000627"
+2133,ORPHA:2209,Maternal Phenylketonuria,PAH,Pah<em1(IMPC)Tcp> het early,23.06,"HP:0000752,HP:0030084,HP:0001156,HP:0009611","MP:0000157,MP:0001417"
+2134,ORPHA:2209,Maternal Phenylketonuria,PAH,Pah<em1(IMPC)Tcp> hom early,17.945,"HP:0030084,HP:0001156,HP:0009611",MP:0000157
+2135,ORPHA:221008,Rothmund-Thomson Syndrome Type 1,ANAPC1,Anapc1<em1(IMPC)J> het early,15.6,HP:0003761,MP:0002968
+2136,ORPHA:221008,Rothmund-Thomson Syndrome Type 1,ANAPC1,Anapc1<em1(IMPC)J> het late,32.36,"HP:0000519,HP:0001118",MP:0001303
+2137,ORPHA:221016,Rothmund-Thomson Syndrome Type 2,RECQL4,Recql4<tm1.1(KOMP)Vlcg> het early,17.7,"HP:0100840,HP:0007418,HP:0008070,HP:0200102",MP:0000367
+2138,ORPHA:221061,Familial Cerebral Cavernous Malformation,KRIT1,Krit1<tm1.1(KOMP)Vlcg> het early,20.385,"HP:0007872,HP:0009588,HP:0030430,HP:0011513",MP:0001333
+2139,ORPHA:221139,Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies,KNSTRN,Knstrn<tm1b(KOMP)Wtsi> hom early,37.705,"HP:0010976,HP:0002080,HP:0040218,HP:0025540,HP:0005407,HP:0001251","MP:0002875,MP:0002590,MP:0000745,MP:0003179,MP:0005561,MP:0000208"
+2140,ORPHA:2228,Hypodontia-Dysplasia Of Nails Syndrome,MSX1,Msx1<tm1b(KOMP)Wtsi> hom embryo,35.615,"HP:0006482,HP:0000232,HP:0000164,HP:0006349,HP:0000698,HP:0000668,HP:0000684",MP:0000111
+2141,ORPHA:2229,Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome,LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,31,HP:0100362,MP:0002764
+2142,ORPHA:2250,Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome,SMCHD1,Smchd1<em1(IMPC)Tcp> hom early,12.96,"HP:0000175,HP:0000193,HP:0000176",MP:0000470
+2143,ORPHA:225154,Familial Infantile Bilateral Striatal Necrosis,NUP62,Nup62<tm1b(KOMP)Wtsi> het early,25.34,HP:0000648,"MP:0003733,MP:0011965"
+2144,ORPHA:225154,Familial Infantile Bilateral Striatal Necrosis,NUP54,Nup54<em1(IMPC)Bay> het early,33.7,"HP:0001266,HP:0002015,HP:0002066,HP:0002505,HP:0001251,HP:0001288","MP:0001402,MP:0020870"
+2145,ORPHA:2253,Foveal Hypoplasia-Presenile Cataract Syndrome,PAX6,Pax6<em1(IMPC)Mbp> het early,42.29,HP:0000518,"MP:0001314,MP:0005542"
+2146,ORPHA:226307,Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function,HESX1,Hesx1<em1(IMPC)J> hom embryo,19.77,"HP:0000609,HP:0000158","MP:0000111,MP:0001293"
+2147,ORPHA:226316,Genetic Transient Congenital Hypothyroidism,DUOX2,Duox2<em1(IMPC)Mbp> hom early,33.685,"HP:0025484,HP:0006579,HP:0001254","MP:0002965,MP:0000194,MP:0020421,MP:0000601,MP:0000692,MP:0005568,MP:0000598,MP:0001417,MP:0005178,MP:0000689,MP:0005553,MP:0001556,MP:0000691"
+2148,ORPHA:2268,Icf Syndrome,HELLS,Hells<tm1a(EUCOMM)Wtsi> hom early,31.31,"HP:0001874,HP:0001903,HP:0001888","MP:0000223,MP:0008078"
+2149,ORPHA:2268,Icf Syndrome,UHRF1,Uhrf1<tm1a(EUCOMM)Wtsi> het early,35.375,"HP:0001874,HP:0001903,HP:0001888","MP:0008044,MP:0002591"
+2150,ORPHA:2268,Icf Syndrome,ZBTB24,Zbtb24<tm1b(EUCOMM)Hmgu> het early,33,"HP:0001874,HP:0001903,HP:0001888",MP:0010068
+2151,ORPHA:2268,Icf Syndrome,DNMT3B,Dnmt3b<em1(IMPC)Mbp> hom embryo,30.835,"HP:0001537,HP:0010808,HP:0000256,HP:0004322,HP:0000158","MP:0000433,MP:0003231,MP:0003984,MP:0001711,MP:0000111"
+2152,ORPHA:228302,"Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form",CPT2,Cpt2<tm1b(KOMP)Wtsi> het early,20.545,"HP:0045045,HP:0003236,HP:0003455",MP:0001566
+2153,ORPHA:228305,"Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form",CPT2,Cpt2<tm1b(KOMP)Wtsi> het early,20.29,"HP:0045045,HP:0008315,HP:0011936,HP:0003236",MP:0001566
+2154,ORPHA:228308,"Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form",CPT2,Cpt2<tm1b(KOMP)Wtsi> het early,19.045,"HP:0045045,HP:0003077,HP:0001987,HP:0008315,HP:0011936,HP:0003236",MP:0001566
+2155,ORPHA:228402,2Q23.1 Microdeletion Syndrome,MBD5,Mbd5<tm1b(EUCOMM)Wtsi> het early,42.815,"HP:0000752,HP:0001385,HP:0000749,HP:0000232,HP:0001852,HP:0010804,HP:0004209,HP:0004279,HP:0001251","MP:0003769,MP:0001402,MP:0002764,MP:0001417"
+2156,ORPHA:228423,Gata2 Deficiency Spectrum,GATA2,Gata2<tm1b(KOMP)Wtsi> het early,19.105,"HP:0000407,HP:0000389",MP:0004738
+2157,ORPHA:228426,Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency,ITCH,Itch<tm1(NCOM)Cmhd> het early,19.875,"HP:0001876,HP:0001971,HP:0001433,HP:0001904",MP:0002590
+2158,ORPHA:228426,Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency,ITCH,Itch<tm1b(EUCOMM)Hmgu> hom early,45.855,"HP:0002242,HP:0001394,HP:0001433,HP:0001409,HP:0001531,HP:0006554,HP:0012115,HP:0001876,HP:0030151,HP:0100651,HP:0012385,HP:0001971,HP:0001904","MP:0013278,MP:0002591,MP:0010067,MP:0004952,MP:0005560,MP:0000691,MP:0002606,MP:0005013,MP:0000467,MP:0000208,MP:0005011,MP:0005562,MP:0002833,MP:0010025,MP:0000219,MP:0003068,MP:0002874,MP:0012362,MP:0003960,MP:0000218,MP:0000063,MP:0009342,MP:0005016"
+2159,ORPHA:230839,Classical-Like Ehlers-Danlos Syndrome Type 1,TNXB,Tnxb<tm1b(EUCOMM)Hmgu> hom early,20.7,HP:0001634,MP:0000274
+2160,ORPHA:230851,Cardiac-Valvular Ehlers-Danlos Syndrome,COL1A2,Col1a2<tm1b(EUCOMM)Wtsi> hom early,35.82,"HP:0001712,HP:0001631,HP:0001848,HP:0000023,HP:0001654,HP:0006109,HP:0001852,HP:0100807,HP:0001075,HP:0001382,HP:0001634,HP:0002857,HP:0001822,HP:0006201,HP:0031610","MP:0002753,MP:0000559,MP:0000062,MP:0002833,MP:0010025,MP:0000274,MP:0000558,MP:0000691"
+2161,ORPHA:231160,Familial Cerebral Saccular Aneurysm,TGFBR3,Tgfbr3<em1(IMPC)Mbp> hom embryo,28.75,"HP:0000822,HP:0002170,HP:0002326,HP:0002138",MP:0001914
+2162,ORPHA:231169,Usher Syndrome Type 1,MYO7A,Myo7a<Hdb> hom early,28.255,HP:0001251,MP:0003313
+2163,ORPHA:231169,Usher Syndrome Type 1,USH1C,Ush1c<tm1a(KOMP)Wtsi> hom early,27.8,"HP:0000682,HP:0001251","MP:0001523,MP:0010025"
+2164,ORPHA:231169,Usher Syndrome Type 1,MYO7A,Myo7a<tm1a(EUCOMM)Wtsi> hom early,27.505,HP:0001251,MP:0001523
+2165,ORPHA:231169,Usher Syndrome Type 1,CIB2,Cib2<tm1b(EUCOMM)Wtsi> hom early,27.77,"HP:0000407,HP:0001251,HP:0000375","MP:0000745,MP:0002102,MP:0004738"
+2166,ORPHA:231169,Usher Syndrome Type 1,CDH23,Cdh23<tm2b(EUCOMM)Wtsi> hom early,30.805,"HP:0000682,HP:0001251","MP:0001406,MP:0001523,MP:0010025"
+2167,ORPHA:231178,Usher Syndrome Type 2,MYO7A,Myo7a<Hdb> hom early,25.155,HP:0001251,MP:0003313
+2168,ORPHA:231178,Usher Syndrome Type 2,MYO7A,Myo7a<tm1a(EUCOMM)Wtsi> hom early,24.495,HP:0001251,MP:0001523
+2169,ORPHA:231178,Usher Syndrome Type 2,ADGRV1,Adgrv1<tm1.1(KOMP)Vlcg> hom early,28.93,"HP:0000407,HP:0000716","MP:0001399,MP:0004738"
+2170,ORPHA:231183,Usher Syndrome Type 3,CLRN1,Clrn1<tm1.1(KOMP)Vlcg> hom early,21.535,"HP:0000407,HP:0000375",MP:0004738
+2171,ORPHA:2318,Joubert Syndrome With Oculorenal Defect,TMEM237,Tmem237<tm1b(EUCOMM)Hmgu> het early,33.185,"HP:0001829,HP:0000556,HP:0002553,HP:0001161,HP:0000864,HP:0000567","MP:0000639,MP:0002768,MP:0001325,MP:0001147,MP:0004357,MP:0000627"
+2172,ORPHA:2318,Joubert Syndrome With Oculorenal Defect,CEP290,Cep290<em1(IMPC)Mbp> hom embryo,32.125,"HP:0004422,HP:0002084","MP:0001711,MP:0011495"
+2173,ORPHA:2318,Joubert Syndrome With Oculorenal Defect,ZNF423,Zfp423<em1(IMPC)J> het early,29.725,"HP:0000612,HP:0000567,HP:0001251","MP:0001289,MP:0001402"
+2174,ORPHA:2323,Sanjad-Sakati Syndrome,TBCE,Tbce<tm2b(EUCOMM)Hmgu> het early,31.065,"HP:0007957,HP:0000483","MP:0001304,MP:0001303"
+2175,ORPHA:233,Duane Retraction Syndrome,CHN1,Chn1<tm1.1(KOMP)Vlcg> hom early,15.02,"HP:0000643,HP:0012385","MP:0001523,MP:0010025"
+2176,ORPHA:2332,Kbg Syndrome,ANKRD11,Ankrd11<Yod> het early,19.72,HP:0002948,MP:0000063
+2177,ORPHA:2332,Kbg Syndrome,ANKRD11,Ankrd11<tm1b(EUCOMM)Wtsi> het early,29.79,"HP:0000400,HP:0008513,HP:0002353",MP:0004738
+2178,ORPHA:2334,Autosomal Dominant Keratitis,PAX6,Pax6<em1(IMPC)Mbp> het early,72.135,"HP:0000526,HP:0011496,HP:0001104,HP:0007633,HP:0007990,HP:0000518,HP:0000491,HP:0007759,HP:0007750,HP:0000482,HP:0032107,HP:0025348","MP:0001297,MP:0001314,MP:0001293,MP:0005542"
+2179,ORPHA:2334,Autosomal Dominant Keratitis,PAX6,Pax6<em1(IMPC)Mbp> het embryo,47.48,"HP:0000526,HP:0007633,HP:0001104,HP:0007990,HP:0007750",MP:0001297
+2180,ORPHA:2334,Autosomal Dominant Keratitis,PAX6,Pax6<em1(IMPC)Mbp> hom embryo,39.425,"HP:0000526,HP:0007633,HP:0001104,HP:0007990,HP:0007750",MP:0001293
+2181,ORPHA:234,Dubin-Johnson Syndrome,ABCC2,Abcc2<tm2b(KOMP)Wtsi> hom early,54.365,"HP:0012086,HP:0002908,HP:0002240","MP:0003917,MP:0002941,MP:0001556,MP:0005344,MP:0005178,MP:0005343"
+2182,ORPHA:2345,Isolated Klippel-Feil Syndrome,GDF6,Gdf6<em1(IMPC)Ccpcz> het early,31.105,"HP:0003043,HP:0001291,HP:0002414,HP:0003298","MP:0001891,MP:0008259,MP:0002110"
+2183,ORPHA:2348,"Familial Partial Lipodystrophy, Dunnigan Type",LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,36.37,"HP:0000855,HP:0000819",MP:0005292
+2184,ORPHA:235,Dubowitz Syndrome,NSUN2,Nsun2<tm1a(EUCOMM)Wtsi> het early,25.775,"HP:0000736,HP:0007018",MP:0001413
+2185,ORPHA:235,Dubowitz Syndrome,NSUN2,Nsun2<tm1a(EUCOMM)Wtsi> hom early,42.65,"HP:0001363,HP:0000568,HP:0001773,HP:0001508,HP:0000347,HP:0000176,HP:0001156,HP:0200055,HP:0009602,HP:0011304,HP:0000612,HP:0000518,HP:0001852,HP:0000485,HP:0004209,HP:0001840,HP:0000260,HP:0000154,HP:0000678,HP:0000164,HP:0009601,HP:0001770,HP:0000684,HP:0000218,HP:0000270","MP:0002100,MP:0001312,MP:0001262,MP:0005296,MP:0002697,MP:0002932"
+2186,ORPHA:235,Dubowitz Syndrome,LIG4,Lig4<em1(IMPC)Ccpcz> het early,30.905,"HP:0001903,HP:0000028,HP:0000055,HP:0000047,HP:0000829,HP:0000126,HP:0006721,HP:0000824,HP:0001873,HP:0001874","MP:0003917,MP:0000703,MP:0001120,MP:0000689,MP:0000709,MP:0000691,MP:0004906"
+2187,ORPHA:2363,Lacrimoauriculodentodigital Syndrome,FGF10,Fgf10<tm1b(EUCOMM)Wtsi> het early,38.355,"HP:0011481,HP:0007892,HP:0011496,HP:0007925,HP:0012804,HP:0002015,HP:0011482,HP:0001096,HP:0000682,HP:0000508,HP:0000495,HP:0001097,HP:0032107,HP:0006297,HP:0001092,HP:0007656,HP:0011487","MP:0005287,MP:0001314,MP:0001312,MP:0010024,MP:0020870"
+2188,ORPHA:2379,Early-Onset Parkinsonism-Intellectual Disability Syndrome,RAB39B,Rab39b<em1(IMPC)Tcp> hom late,32.835,"HP:0002063,HP:0002396",MP:0000745
+2189,ORPHA:2380,Legg-Calvé-Perthes Disease,COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,33.185,HP:0000164,"MP:0000111,MP:0009908"
+2190,ORPHA:2382,Lennox-Gastaut Syndrome,CACNA1A,Cacna1a<em1(IMPC)H> het early,43.965,"HP:0000718,HP:0000741,HP:0000752,HP:0000737",MP:0020421
+2191,ORPHA:238446,15Q11Q13 Microduplication Syndrome,UBE3A,Ube3a<em1(IMPC)Hmgu> het early,43.04,"HP:0000722,HP:0001251,HP:0007018","MP:0001402,MP:0011940"
+2192,ORPHA:238446,15Q11Q13 Microduplication Syndrome,UBE3A,Ube3a<em1(IMPC)Hmgu> hom early,59.41,"HP:0000722,HP:0001251,HP:0007018","MP:0001402,MP:0001417,MP:0002757,MP:0011940,MP:0001399"
+2193,ORPHA:238455,Infantile Dystonia-Parkinsonism,SLC6A3,Slc6a3<tm1b(KOMP)Wtsi> het early,29.8,"HP:0004354,HP:0000737","MP:0001399,MP:0005633"
+2194,ORPHA:238722,Familial Congenital Mirror Movements,DNAL4,Dnal4<tm1b(EUCOMM)Wtsi> het early,36.69,"HP:0007010,HP:0002312,HP:0100021",MP:0000745
+2195,ORPHA:2388,Choreoacanthocytosis,VPS13A,Vps13a<tm1b(EUCOMM)Wtsi> hom early,13.9,"HP:0001927,HP:0030272,HP:0001744","MP:0013764,MP:0008124"
+2196,ORPHA:239,Dyggve-Melchior-Clausen Disease,DYM,Dym<em1(IMPC)Tcp> hom early,37.085,"HP:0003183,HP:0100255,HP:0006429,HP:0003368,HP:0003090,HP:0003272,HP:0003028,HP:0003026,HP:0002656,HP:0003066,HP:0000946,HP:0008905,HP:0003274,HP:0040163,HP:0002857,HP:0008786,HP:0002812,HP:0004242,HP:0006633,HP:0001377,HP:0003311","MP:0002764,MP:0002932"
+2197,ORPHA:2398,Multiple Symmetric Lipomatosis,MFN2,Mfn2<tm1b(EUCOMM)Wtsi> het early,47.51,HP:0001288,MP:0001406
+2198,ORPHA:240071,Classic Progressive Supranuclear Palsy Syndrome,MAPT,Mapt<tm1b(EUCOMM)Hmgu> hom early,30.045,"HP:0007086,HP:0002068,HP:0001268,HP:0100710","MP:0011941,MP:0001417"
+2199,ORPHA:240085,Progressive Supranuclear Palsy-Predominant Parkinsonism Syndrome,MAPT,Mapt<tm1b(EUCOMM)Hmgu> hom early,39.755,"HP:0002354,HP:0001268,HP:0000716,HP:0002068,HP:0000741","MP:0011941,MP:0001417"
+2200,ORPHA:240094,Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome,MAPT,Mapt<tm1b(EUCOMM)Hmgu> hom early,26.7,HP:0000726,MP:0001417
+2201,ORPHA:240103,Progressive Supranuclear Palsy-Corticobasal Syndrome,MAPT,Mapt<tm1b(EUCOMM)Hmgu> hom early,33.09,"HP:0002015,HP:0001268,HP:0002354","MP:0011941,MP:0001417"
+2202,ORPHA:240112,Progressive Supranuclear Palsy-Progressive Non-Fluent Aphasia Syndrome,MAPT,Mapt<tm1b(EUCOMM)Hmgu> hom early,44.145,"HP:0002549,HP:0000741,HP:0001268,HP:0002015","MP:0011941,MP:0001417"
+2203,ORPHA:242,"46,Xy Complete Gonadal Dysgenesis",NR0B1,Nr0b1<em2(IMPC)Wtsi> hem early,30.41,"HP:0000044,HP:0008715,HP:0000037,HP:0000147",MP:0002160
+2204,ORPHA:243,"46,Xx Gonadal Dysgenesis",FSHR,Fshr<tm1(KOMP)Vlcg> hom early,40.475,"HP:0000938,HP:0004349,HP:0005625","MP:0010124,MP:0000063"
+2205,ORPHA:243,"46,Xx Gonadal Dysgenesis",SPIDR,Spidr<tm1b(EUCOMM)Hmgu> hom early,47.205,"HP:0000144,HP:0000938,HP:0004349,HP:0008209,HP:0005625,HP:0010464,HP:0000786,HP:0000869","MP:0010124,MP:0001926,MP:0000063,MP:0001925"
+2206,ORPHA:243,"46,Xx Gonadal Dysgenesis",MRPS22,Mrps22<tm1.1(KOMP)Vlcg> het early,40.25,"HP:0000938,HP:0004349,HP:0005625","MP:0010124,MP:0000063"
+2207,ORPHA:243,"46,Xx Gonadal Dysgenesis",BNC1,Bnc1<em1(IMPC)H> hom early,40.58,"HP:0000144,HP:0008209,HP:0000938,HP:0004349,HP:0005625,HP:0010464,HP:0000786,HP:0000869","MP:0001926,MP:0010123"
+2208,ORPHA:243,"46,Xx Gonadal Dysgenesis",BNC1,Bnc1<em1(IMPC)H> hom late,39.61,"HP:0000144,HP:0000823,HP:0008209,HP:0008684,HP:0002225,HP:0010464,HP:0000133,HP:0009888,HP:0000837,HP:0008214,HP:0000786,HP:0000869","MP:0001147,MP:0002059,MP:0000367,MP:0002075"
+2209,ORPHA:244,Primary Ciliary Dyskinesia,GAS2L2,Gas2l2<tm1a(KOMP)Wtsi> hom early,49.2,"HP:0003251,HP:0000403,HP:0012206,HP:0000405,HP:0000365,HP:0008222,HP:0000389","MP:0001925,MP:0001926,MP:0004738"
+2210,ORPHA:244,Primary Ciliary Dyskinesia,DNAAF4,Dnaaf4<tm1b(EUCOMM)Hmgu> het early,19.185,HP:0000510,MP:0006243
+2211,ORPHA:244,Primary Ciliary Dyskinesia,DNAL1,Dnal1<tm1.1(KOMP)Vlcg> het early,40.295,"HP:0011947,HP:0001748,HP:0001746,HP:0025177,HP:0100750,HP:0005425,HP:0002110,HP:0010772,HP:0011617,HP:0002566","MP:0005012,MP:0001175,MP:0002581"
+2212,ORPHA:244,Primary Ciliary Dyskinesia,DRC2,Ccdc65<em1(IMPC)Mbp> het early,28.56,HP:0000510,MP:0001325
+2213,ORPHA:244,Primary Ciliary Dyskinesia,MCIDAS,Mcidas<em2(IMPC)Tcp> hom early,49.61,"HP:0001748,HP:0003251,HP:0001746,HP:0000403,HP:0012206,HP:0000405,HP:0000365,HP:0008222,HP:0000389","MP:0000218,MP:0000689,MP:0001925,MP:0001926,MP:0004738"
+2214,ORPHA:244,Primary Ciliary Dyskinesia,LRRC56,Lrrc56<em1(IMPC)Tcp> hom early,51.56,"HP:0011947,HP:0001748,HP:0011539,HP:0001746,HP:0025177,HP:0100750,HP:0011535,HP:0005425,HP:0008222,HP:0001627,HP:0001696,HP:0002110,HP:0010772,HP:0011617,HP:0012206,HP:0003251,HP:0001719,HP:0001669","MP:0001925,MP:0006065,MP:0001175,MP:0000702"
+2215,ORPHA:244,Primary Ciliary Dyskinesia,ODAD2,Odad2<em1(IMPC)Mbp> hom early,43.305,"HP:0001748,HP:0003251,HP:0001746,HP:0012206,HP:0008222","MP:0000692,MP:0001925"
+2216,ORPHA:244,Primary Ciliary Dyskinesia,DRC1,Drc1<em1(IMPC)Bay> hom early,40.895,"HP:0008222,HP:0012206,HP:0003251",MP:0001925
+2217,ORPHA:244,Primary Ciliary Dyskinesia,CCDC40,Ccdc40<em1(IMPC)J> hom early,42.03,"HP:0001748,HP:0003251,HP:0001746,HP:0012206,HP:0008222","MP:0001925,MP:0000218"
+2218,ORPHA:244,Primary Ciliary Dyskinesia,DNAI2,Dnai2<em1(IMPC)Tcp> het early,25.265,"HP:0001748,HP:0001746","MP:0000702,MP:0002591"
+2219,ORPHA:2440,Isolated Split Hand-Split Foot Malformation,EPS15L1,Eps15l1<em1(IMPC)J> hom early,33.545,HP:0000526,MP:0001319
+2220,ORPHA:244242,Hellp Syndrome,CFH,Cfh<tm1a(EUCOMM)Wtsi> hom early,31.79,"HP:0025547,HP:0001937,HP:0001873,HP:0001878",MP:0005561
+2221,ORPHA:244242,Hellp Syndrome,CFI,Cfi<tm1b(EUCOMM)Hmgu> hom early,41.59,"HP:0025547,HP:0001937,HP:0001873,HP:0001878",MP:0003179
+2222,ORPHA:2461,Marden-Walker Syndrome,PIEZO2,Piezo2<em2(IMPC)J> het early,29.995,HP:0007018,MP:0002574
+2223,ORPHA:2461,Marden-Walker Syndrome,PIEZO2,Piezo2<em2(IMPC)J> hom embryo,17.11,HP:0001511,MP:0001697
+2224,ORPHA:2470,Matthew-Wood Syndrome,RARB,Rarb<em1(IMPC)Kmpc> hom early,16.875,HP:0000776,MP:0010025
+2225,ORPHA:247262,Hyperphosphatasia-Intellectual Disability Syndrome,PIGL,Pigl<tm1b(KOMP)Wtsi> het early,15.14,"HP:0002553,HP:0002558",MP:0002098
+2226,ORPHA:247262,Hyperphosphatasia-Intellectual Disability Syndrome,PIGO,Pigo<tm1b(EUCOMM)Wtsi> het early,14.545,HP:0001009,MP:0003928
+2227,ORPHA:247353,Generalized Pustular Psoriasis,AP1S3,Ap1s3<em1(IMPC)Bay> hom early,20.255,HP:0001635,MP:0003233
+2228,ORPHA:247353,Generalized Pustular Psoriasis,IL36RN,Il36rn<em1(IMPC)Mbp> hom early,13.14,HP:0000083,"MP:0002989,MP:0002135"
+2229,ORPHA:247691,Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations,TREX1,Trex1<em1(IMPC)Ccpcz> het early,27.845,"HP:0000096,HP:0000093,HP:0006707,HP:0001638,HP:0000112,HP:0001895,HP:0011954,HP:0001897","MP:0002135,MP:0003068,MP:0000689,MP:0000274,MP:0000691,MP:0000266"
+2230,ORPHA:247691,Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations,TREX1,Trex1<em1(IMPC)Ccpcz> hom early,39.01,"HP:0000096,HP:0000093,HP:0006707,HP:0001638,HP:0000112,HP:0001895,HP:0001897,HP:0011954,HP:0005743","MP:0002599,MP:0002764,MP:0010067,MP:0003179,MP:0000598,MP:0004952,MP:0000709,MP:0000691,MP:0000703,MP:0000274,MP:0000266,MP:0003917,MP:0008045,MP:0002833,MP:0000219,MP:0000220,MP:0013772,MP:0000689,MP:0005016,MP:0000599"
+2231,ORPHA:248,Autosomal Recessive Hypohidrotic Ectodermal Dysplasia,WNT10A,Wnt10a<tm1.1(KOMP)Vlcg> hom early,44.27,"HP:0008388,HP:0001596,HP:0001231,HP:0001595,HP:0002213","MP:0000367,MP:0002075"
+2232,ORPHA:2495,Meningioma,SUFU,Sufu<tm1b(KOMP)Wtsi> het early,11.365,HP:0100648,MP:0000470
+2233,ORPHA:2495,Meningioma,SUFU,Sufu<tm1b(KOMP)Wtsi> hom embryo,29.605,HP:0000238,"MP:0003864,MP:0003232,MP:0003720,MP:0006108"
+2234,ORPHA:2495,Meningioma,SMO,Smo<tm1b(KOMP)Wtsi> het early,20.93,"HP:0001342,HP:0001279","MP:0005333,MP:0010506,MP:0003928"
+2235,ORPHA:2495,Meningioma,SMARCE1,Smarce1<em1(IMPC)J> het early,23.385,"HP:0001251,HP:0001288",MP:0001402
+2236,ORPHA:2495,Meningioma,TRAF7,Traf7<em1(IMPC)Tcp> het early,20.995,HP:0001085,MP:0001325
+2237,ORPHA:2495,Meningioma,BAP1,Bap1<em2(IMPC)Marc> het early,17.225,"HP:0010628,HP:0000360,HP:0001085",MP:0004738
+2238,ORPHA:25,Glutaryl-Coa Dehydrogenase Deficiency,GCDH,Gcdh<tm2b(EUCOMM)Hmgu> hom early,35.6,HP:0003162,MP:0005560
+2239,ORPHA:2501,"Metaphyseal Chondrodysplasia, Spahr Type",MMP13,Mmp13<em1(IMPC)Ccpcz> hom early,47.93,"HP:0006487,HP:0006409,HP:0005871,HP:0100255,HP:0000944,HP:0005930,HP:0001385,HP:0006385,HP:0002970",MP:0002764
+2240,ORPHA:250923,Isolated Aniridia,PAX6,Pax6<em1(IMPC)Mbp> het early,68.1,"HP:0007676,HP:0100719,HP:0000526,HP:0011496,HP:0000659,HP:0000568,HP:0000518,HP:0000609,HP:0001083,HP:0008059,HP:0007957,HP:0007750,HP:0001097,HP:0032107,HP:0030961","MP:0001297,MP:0001314,MP:0001293,MP:0005542"
+2241,ORPHA:250923,Isolated Aniridia,PAX6,Pax6<em1(IMPC)Mbp> het embryo,48.145,"HP:0007676,HP:0100719,HP:0000526,HP:0000568,HP:0000609,HP:0008059,HP:0007750,HP:0030961",MP:0001297
+2242,ORPHA:250923,Isolated Aniridia,PAX6,Pax6<em1(IMPC)Mbp> hom embryo,40.765,"HP:0007676,HP:0100719,HP:0000526,HP:0000568,HP:0000609,HP:0008059,HP:0007750,HP:0030961",MP:0001293
+2243,ORPHA:250984,Autosomal Recessive Stickler Syndrome,COL9A2,Col9a2<tm1b(EUCOMM)Wtsi> hom early,43.365,"HP:0005930,HP:0000407,HP:0002656,HP:0000347,HP:0002857","MP:0002764,MP:0000559,MP:0002102,MP:0004738,MP:0004509,MP:0005108,MP:0000552,MP:0005296,MP:0000558,MP:0002932"
+2244,ORPHA:250984,Autosomal Recessive Stickler Syndrome,COL9A3,Col9a3<em1(IMPC)Tcp> hom early,20.04,HP:0000407,MP:0004738
+2245,ORPHA:2510,Micro Syndrome,RAB18,Rab18<Gt(EUCE0233a03)Hmgu> het early,24.135,"HP:0000648,HP:0000480,HP:0007703",MP:0006243
+2246,ORPHA:2510,Micro Syndrome,RAB3GAP2,Rab3gap2<tm1b(KOMP)Wtsi> hom early,45.165,"HP:0003196,HP:0000480,HP:0000518,HP:0007703,HP:0000431,HP:0000482,HP:0000648","MP:0001304,MP:0001289,MP:0008259,MP:0000443"
+2247,ORPHA:251019,2Q32Q33 Microdeletion Syndrome,SATB2,Satb2<tm1b(KOMP)Wtsi> het early,20.91,HP:0008734,MP:0001120
+2248,ORPHA:251028,Satb2-Associated Syndrome Due To A Chromosomal Rearrangement,SATB2,Satb2<tm1b(KOMP)Wtsi> het early,22.03,"HP:0003241,HP:0000054,HP:0008734,HP:0000028",MP:0001120
+2249,ORPHA:2512,Autosomal Recessive Primary Microcephaly,PYCR2,Pycr2<tm1a(EUCOMM)Wtsi> hom early,31.9,HP:0003103,MP:0000063
+2250,ORPHA:2512,Autosomal Recessive Primary Microcephaly,WARS1,Wars1<tm1b(EUCOMM)Hmgu> het late,33.42,"HP:0000076,HP:0000122","MP:0002135,MP:0008528"
+2251,ORPHA:2512,Autosomal Recessive Primary Microcephaly,TRAPPC10,Trappc10<tm1b(KOMP)Wtsi> hom early,34.265,HP:0003103,MP:0010124
+2252,ORPHA:2512,Autosomal Recessive Primary Microcephaly,CEP135,Cep135<em1(IMPC)J> het early,33.31,HP:0003103,MP:0000063
+2253,ORPHA:2512,Autosomal Recessive Primary Microcephaly,WDR62,Wdr62<em1(IMPC)Tcp> hom early,21.555,"HP:0000076,HP:0000122",MP:0002989
+2254,ORPHA:2512,Autosomal Recessive Primary Microcephaly,SASS6,Sass6<em1(IMPC)Bay> hom embryo,20.24,"HP:0004322,HP:0001510",MP:0003984
+2255,ORPHA:251510,"46,Xy Partial Gonadal Dysgenesis",MAP3K1,Map3k1<tm1a(KOMP)Wtsi> het early,22.065,HP:0000939,MP:0010123
+2256,ORPHA:251510,"46,Xy Partial Gonadal Dysgenesis",NR0B1,Nr0b1<em2(IMPC)Wtsi> hem early,37.055,"HP:0000054,HP:0100779,HP:0000812,HP:0000047,HP:0012870,HP:0000027,HP:0000142,HP:0008734,HP:0012244,HP:0000149,HP:0008726,HP:0000133,HP:0000150,HP:0008665,HP:0000045,HP:0000939,HP:0010464,HP:0000815,HP:0000062,HP:0000028,HP:0008730,HP:0008736,HP:0000030,HP:0000058","MP:0010123,MP:0002160"
+2257,ORPHA:2518,Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome,TUBGCP4,Tubgcp4<em1(IMPC)J> het early,11.64,HP:0000499,"MP:0002098,MP:0001284"
+2258,ORPHA:254343,Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome,MTPAP,Mtpap<tm1.1(KOMP)Vlcg> het early,34.87,"HP:0007240,HP:0000712,HP:0002073","MP:0001392,MP:0001399"
+2259,ORPHA:254525,Temple Syndrome Due To Paternal 14Q32.2 Microdeletion,DLK1,Dlk1<em1(IMPC)Wtsi> hom early,17.81,HP:0001513,MP:0003961
+2260,ORPHA:254528,Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion,DLK1,Dlk1<em1(IMPC)Wtsi> hom early,19.395,"HP:0001239,HP:0001371,HP:0012785,HP:0001537,HP:0001539,HP:0000023,HP:0012385",MP:0010024
+2261,ORPHA:254531,Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation,DLK1,Dlk1<em1(IMPC)Wtsi> hom early,30.645,"HP:0001513,HP:0004904","MP:0003961,MP:0005560"
+2262,ORPHA:254534,Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation,DLK1,Dlk1<em1(IMPC)Wtsi> hom early,21.715,"HP:0001520,HP:0001518,HP:0001539,HP:0001537","MP:0003961,MP:0010024"
+2263,ORPHA:254704,Genetic Hyperferritinemia Without Iron Overload,FTL,Ftl1<em1(IMPC)Rbrc> hom late,28.945,HP:0003281,MP:0004152
+2264,ORPHA:254892,Autosomal Dominant Progressive External Ophthalmoplegia,SLC25A4,Slc25a4<tm1a(EUCOMM)Wtsi> hom early,41.25,"HP:0000853,HP:0001712,HP:0000819,HP:0000821,HP:0000939,HP:0000836,HP:0001952,HP:0003236,HP:0001644","MP:0003020,MP:0004613,MP:0000194,MP:0002079,MP:0002833,MP:0002968,MP:0005565,MP:0005292"
+2265,ORPHA:254913,Isolated Atp Synthase Deficiency,ATPAF2,Atpaf2<tm1a(KOMP)Wtsi> het early,33.885,"HP:0001251,HP:0001254",MP:0001402
+2266,ORPHA:254913,Isolated Atp Synthase Deficiency,ATP5MK,Atp5mk<tm1b(EUCOMM)Wtsi> hom early,42.13,"HP:0003348,HP:0001251,HP:0001987","MP:0001406,MP:0002941,MP:0005419,MP:0001566,MP:0008806,MP:0005567,MP:0005565,MP:0005343"
+2267,ORPHA:255138,Pyruvate Dehydrogenase E1-Beta Deficiency,PDHB,Pdhb<em1(IMPC)Bay> hom embryo,32.465,HP:0001511,"MP:0003984,MP:0001697"
+2268,ORPHA:2554,Ear-Patella-Short Stature Syndrome,ORC1,Orc1<tm1a(KOMP)Wtsi> het early,21.23,"HP:0100490,HP:0001382,HP:0001363,HP:0001508","MP:0010123,MP:0003960,MP:0010025,MP:0000062"
+2269,ORPHA:2576,Mulibrey Nanism,TRIM37,Trim37<em1(IMPC)Marc> hom early,17.565,HP:0004326,MP:0003961
+2270,ORPHA:2584,Classic Mycosis Fungoides,TNFRSF1B,Tnfrsf1b<tm1a(EUCOMM)Wtsi> hom early,30.095,"HP:0004332,HP:0001744","MP:0005014,MP:0005018"
+2271,ORPHA:2584,Classic Mycosis Fungoides,CD28,Cd28<tm1a(EUCOMM)Hmgu> hom early,31.575,"HP:0004332,HP:0001744","MP:0005018,MP:0008074,MP:0000218"
+2272,ORPHA:2591,Infantile Myofibromatosis,PDGFRB,Pdgfrb<tm1b(EUCOMM)Hmgu> het early,17.3,"HP:0003072,HP:0002894","MP:0002059,MP:0001552"
+2273,ORPHA:2591,Infantile Myofibromatosis,NOTCH3,Notch3<tm1.1(KOMP)Vlcg> hom early,24.42,"HP:0000077,HP:0002894","MP:0003068,MP:0003917,MP:0003402,MP:0004952"
+2274,ORPHA:2598,Mitochondrial Myopathy And Sideroblastic Anemia,PUS1,Pus1<em1(IMPC)J> hom early,20.66,HP:0009743,MP:0002075
+2275,ORPHA:2609,Isolated Complex I Deficiency,NDUFS3,Ndufs3<tm1a(EUCOMM)Wtsi> het early,38.01,"HP:0000819,HP:0001639,HP:0001508,HP:0003542,HP:0002240,HP:0001943","MP:0005179,MP:0000194,MP:0005419,MP:0005633,MP:0003960,MP:0005559,MP:0001566,MP:0002833,MP:0000186"
+2276,ORPHA:2609,Isolated Complex I Deficiency,NDUFS1,Ndufs1<tm1b(EUCOMM)Hmgu> het early,36.56,"HP:0001138,HP:0003542,HP:0000543,HP:0001251,HP:0001254","MP:0000194,MP:0005633,MP:0001402,MP:0001325,MP:0002757,MP:0002699,MP:0001566,MP:0011886,MP:0005553"
+2277,ORPHA:2609,Isolated Complex I Deficiency,NDUFS7,Ndufs7<tm1b(EUCOMM)Hmgu> het early,22.15,"HP:0001138,HP:0000543",MP:0011965
+2278,ORPHA:2609,Isolated Complex I Deficiency,NDUFS7,Ndufs7<tm1b(EUCOMM)Hmgu> het embryo,29.485,HP:0001511,MP:0003984
+2279,ORPHA:2609,Isolated Complex I Deficiency,NDUFS7,Ndufs7<tm1b(EUCOMM)Hmgu> hom embryo,30.03,HP:0001511,"MP:0003984,MP:0001697"
+2280,ORPHA:2609,Isolated Complex I Deficiency,NDUFB9,Ndufb9<tm1b(EUCOMM)Hmgu> het early,26.255,"HP:0000114,HP:0003542,HP:0000819,HP:0001943","MP:0002079,MP:0002135,MP:0002966"
+2281,ORPHA:2609,Isolated Complex I Deficiency,TIMMDC1,Timmdc1<tm1b(EUCOMM)Wtsi> het early,16.26,HP:0003542,MP:0002941
+2282,ORPHA:2609,Isolated Complex I Deficiency,NDUFV1,Ndufv1<tm1.1(KOMP)Vlcg> het early,26.065,HP:0001254,MP:0001399
+2283,ORPHA:2609,Isolated Complex I Deficiency,NDUFS2,Ndufs2<em1(IMPC)Tcp> het embryo,17.945,HP:0001511,MP:0001697
+2284,ORPHA:2609,Isolated Complex I Deficiency,FOXRED1,Foxred1<em1(IMPC)Bay> het early,19.125,HP:0002240,MP:0004952
+2285,ORPHA:2609,Isolated Complex I Deficiency,NDUFA6,Ndufa6<em1(IMPC)Bay> het early,19.415,HP:0001639,"MP:0005333,MP:0010506,MP:0002953"
+2286,ORPHA:2609,Isolated Complex I Deficiency,NDUFAF8,Ndufaf8<em1(IMPC)Bay> het embryo,30.185,HP:0001511,"MP:0003984,MP:0001697"
+2287,ORPHA:2609,Isolated Complex I Deficiency,NDUFAF8,Ndufaf8<em1(IMPC)Bay> hom embryo,31.325,"HP:0001511,HP:0001639","MP:0003984,MP:0001697,MP:0000266"
+2288,ORPHA:2609,Isolated Complex I Deficiency,NDUFAF5,Ndufaf5<em1(IMPC)Bay> het early,25.45,"HP:0001251,HP:0001254","MP:0001392,MP:0001417"
+2289,ORPHA:261183,15Q11.2 Microdeletion Syndrome,TUBG1,Tubg1<tm1dIcs> het early,24.055,HP:0001251,MP:0001402
+2290,ORPHA:2612,Linear Nevus Sebaceus Syndrome,NRAS,Nras<tm1b(EUCOMM)Hmgu> het early,15.38,HP:0002816,MP:0002764
+2291,ORPHA:261250,16Q24.3 Microdeletion Syndrome,ANKRD11,Ankrd11<Yod> het early,17.925,HP:0000609,MP:0002792
+2292,ORPHA:261250,16Q24.3 Microdeletion Syndrome,ANKRD11,Ankrd11<tm1b(EUCOMM)Wtsi> het early,19.835,"HP:0000365,HP:0000411,HP:0000609,HP:0000389","MP:0002699,MP:0004738"
+2293,ORPHA:261279,17Q23.1Q23.2 Microdeletion Syndrome,TBX4,Tbx4<tm4b(EUCOMM)Wtsi> hom embryo,18.77,HP:0001511,MP:0001697
+2294,ORPHA:2616,3M Syndrome,CCDC8,Ccdc8<em1(IMPC)Tcp> het early,12.645,HP:0000682,MP:0010024
+2295,ORPHA:261652,Kleefstra Syndrome Due To A Point Mutation,EHMT1,Ehmt1<tm1b(EUCOMM)Hmgu> het early,29.37,"HP:0000519,HP:0001520,HP:0100716,HP:0001508","MP:0002797,MP:0001363,MP:0001314,MP:0003960"
+2296,ORPHA:263455,Congenital Hyperinsulinism Due To Hnf4A Deficiency,HNF4A,Hnf4a<tm1b(EUCOMM)Hmgu> het early,26.38,"HP:0004912,HP:0004359","MP:0005178,MP:0001556,MP:0005344"
+2297,ORPHA:263455,Congenital Hyperinsulinism Due To Hnf4A Deficiency,HNF4A,Hnf4a<tm1b(EUCOMM)Hmgu> het late,28.87,"HP:0000842,HP:0004510,HP:0004359,HP:0004912,HP:0000825","MP:0005355,MP:0005178,MP:0000194,MP:0005554"
+2298,ORPHA:263455,Congenital Hyperinsulinism Due To Hnf4A Deficiency,HNF4A,Hnf4a<tm1b(EUCOMM)Hmgu> het middle,24.935,"HP:0001520,HP:0004324",MP:0001262
+2299,ORPHA:263487,Cog5-Cdg,COG5,Cog5<em1(IMPC)Ccpcz> het early,39.04,"HP:0001433,HP:0009473,HP:0100490,HP:0002857,HP:0002240,HP:0040019","MP:0000274,MP:0000691,MP:0000689,MP:0002110"
+2300,ORPHA:263501,Cog4-Cdg,COG4,Cog4<em1(IMPC)Bay> het late,26.755,HP:0000737,MP:0001399
+2301,ORPHA:2637,Microcephalic Osteodysplastic Primordial Dwarfism Type Ii,PCNT,Pcnt<em1(IMPC)Mbp> het early,23.46,"HP:0000055,HP:0000826","MP:0001147,MP:0001146"
+2302,ORPHA:2637,Microcephalic Osteodysplastic Primordial Dwarfism Type Ii,PCNT,Pcnt<em1(IMPC)Mbp> hom embryo,30.595,"HP:0003498,HP:0001511",MP:0003984
+2303,ORPHA:2639,Fibular Aplasia-Complex Brachydactyly Syndrome,GDF5,Gdf5<em1(IMPC)H> hom early,46.78,"HP:0008368,HP:0002818,HP:0003272,HP:0005930,HP:0005048,HP:0002983,HP:0040071,HP:0006492,HP:0001376,HP:0001156,HP:0002992,HP:0007598,HP:0001172","MP:0000556,MP:0000572,MP:0000062,MP:0002110,MP:0000550"
+2304,ORPHA:2639,Fibular Aplasia-Complex Brachydactyly Syndrome,BMPR1B,Bmpr1b<em1(IMPC)Mbp> hom early,27.52,"HP:0008368,HP:0002818,HP:0001172,HP:0005048,HP:0002983,HP:0040071,HP:0006492,HP:0001156,HP:0002992,HP:0007598",MP:0000572
+2305,ORPHA:2645,Osteoglosphonic Dysplasia,FGFR1,Fgfr1<tm1.1(KOMP)Vlcg> hom embryo,18.64,"HP:0003510,HP:0008905",MP:0003984
+2306,ORPHA:264580,Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency,PHKG2,Phkg2<tm1.1(KOMP)Vlcg> het early,32.195,"HP:0001903,HP:0030272,HP:0001744","MP:0003131,MP:0002608,MP:0005564"
+2307,ORPHA:26792,Short Chain Acyl-Coa Dehydrogenase Deficiency,ACADS,Acads<em1(IMPC)Hmgu> hom early,39.07,"HP:0000648,HP:0001254","MP:0002757,MP:0011965"
+2308,ORPHA:26793,Very Long Chain Acyl-Coa Dehydrogenase Deficiency,ACADVL,Acadvl<em1(IMPC)H> hom early,34.66,HP:0001985,"MP:0013278,MP:0005293"
+2309,ORPHA:269,Facioscapulohumeral Dystrophy,DNMT3B,Dnmt3b<em1(IMPC)Mbp> het embryo,23.18,"HP:0011712,HP:0005115",MP:0001914
+2310,ORPHA:269,Facioscapulohumeral Dystrophy,DNMT3B,Dnmt3b<em1(IMPC)Mbp> hom embryo,22.665,"HP:0011712,HP:0005115",MP:0001914
+2311,ORPHA:2704,Urofacial Syndrome,HPSE2,Hpse2<em1(IMPC)J> het early,23.39,HP:0001959,MP:0001399
+2312,ORPHA:2707,"Oculocerebrofacial Syndrome, Kaufman Type",UBE3B,Ube3b<Gt(RRJ142)Byg> hom early,29.805,HP:0001508,MP:0001262
+2313,ORPHA:2707,"Oculocerebrofacial Syndrome, Kaufman Type",UBE3B,Ube3b<em1(IMPC)Bay> het early,44.43,"HP:0000587,HP:0001139,HP:0000482,HP:0001135,HP:0000648","MP:0011962,MP:0004222,MP:0001322,MP:0001312,MP:0003733,MP:0001303,MP:0011960,MP:0002792,MP:0001307"
+2314,ORPHA:2710,Oculodentodigital Dysplasia,GJA1,Gja1<em1(IMPC)Ccpcz> het early,32.55,"HP:0004437,HP:0100774,HP:0003103",MP:0003795
+2315,ORPHA:2710,Oculodentodigital Dysplasia,GJA1,Gja1<em1(IMPC)Ccpcz> hom embryo,29.595,"HP:0004437,HP:0001537","MP:0011495,MP:0001697"
+2316,ORPHA:274,Bernard-Soulier Syndrome,GP9,Gp9<tm1.1(KOMP)Vlcg> hom early,55.725,"HP:0040185,HP:0001902,HP:0011879,HP:0011871","MP:0002599,MP:0002606"
+2317,ORPHA:274,Bernard-Soulier Syndrome,GP1BB,Gp1bb<tm1.1(KOMP)Vlcg> hom early,57.02,"HP:0040185,HP:0000132,HP:0011871,HP:0011879,HP:0001902","MP:0002590,MP:0003179,MP:0002599,MP:0001147"
+2318,ORPHA:2745,Opitz Gbbb Syndrome,MID1,Mid1<em1(IMPC)Mbp> hem early,27.725,"HP:0000079,HP:0000076,HP:0000047,HP:0000126,HP:0100879","MP:0003068,MP:0002135,MP:0003604"
+2319,ORPHA:2745,Opitz Gbbb Syndrome,MID1,Mid1<em1(IMPC)Mbp> het early,25.925,"HP:0000076,HP:0001631,HP:0001629,HP:0001537,HP:0000047,HP:0002015,HP:0001627,HP:0000126,HP:0001655,HP:0100879,HP:0000776,HP:0001539,HP:0000023","MP:0002989,MP:0002135,MP:0020421,MP:0002833,MP:0010025"
+2320,ORPHA:2751,Orofaciodigital Syndrome Type 2,NEK1,Nek1<em1(IMPC)Bay> hom early,50.775,"HP:0006042,HP:0005736,HP:0001161,HP:0004987,HP:0006101,HP:0010055,HP:0000347,HP:0001162,HP:0005873,HP:0010230,HP:0010068,HP:0009826,HP:0009776,HP:0007768,HP:0010100,HP:0001841,HP:0040019","MP:0003731,MP:0004509,MP:0011965,MP:0002764"
+2321,ORPHA:2753,Orofaciodigital Syndrome Type 4,TCTN3,Tctn3<em1(IMPC)J> hom embryo,35.15,"HP:0100490,HP:0001171,HP:0002983,HP:0006101,HP:0005772,HP:0001177,HP:0001511,HP:0001162,HP:0002970","MP:0000562,MP:0001697"
+2322,ORPHA:2754,Orofaciodigital Syndrome Type 6,TCTN3,Tctn3<em1(IMPC)J> hom embryo,44.655,"HP:0001829,HP:0006145,HP:0001159,HP:0100258,HP:0001161,HP:0001156,HP:0100260,HP:0040019",MP:0000562
+2323,ORPHA:2754,Orofaciodigital Syndrome Type 6,TOPORS,Topors<em1(IMPC)J> hom early,25.935,"HP:0000358,HP:0001627,HP:0001508,HP:0000405,HP:0001251,HP:0001288","MP:0002834,MP:0004738,MP:0003961,MP:0002574"
+2324,ORPHA:275864,Behavioral Variant Of Frontotemporal Dementia,MAPT,Mapt<tm1b(EUCOMM)Hmgu> hom early,47.3,"HP:0000718,HP:0000719,HP:0002354,HP:0002145,HP:0012671,HP:0000733,HP:0000711,HP:0001268,HP:0000737,HP:0000723,HP:0030212,HP:0000734,HP:0030213,HP:0000741","MP:0011941,MP:0001417"
+2325,ORPHA:275864,Behavioral Variant Of Frontotemporal Dementia,CHMP2B,Chmp2b<em1(IMPC)Mbp> het early,48.795,"HP:0000718,HP:0000719,HP:0000733,HP:0012671,HP:0000711,HP:0000723,HP:0000737,HP:0030212,HP:0000734,HP:0030213,HP:0000741",MP:0020420
+2326,ORPHA:276152,Multiple Endocrine Neoplasia Type 4,CDKN1B,Cdkn1b<em2(IMPC)H> hom early,28.05,"HP:0003118,HP:0012197,HP:0100522,HP:0100634,HP:0012091,HP:0030688,HP:0012334,HP:0030445,HP:0100570,HP:0003072,HP:0000825,HP:0008283","MP:0002644,MP:0004952,MP:0002968,MP:0008259,MP:0013279"
+2327,ORPHA:276432,Ogden Syndrome,NAA10,Naa10<em1(IMPC)Mbp> hem early,37.465,"HP:0100840,HP:0002213,HP:0000028","MP:0001147,MP:0001146,MP:0002075"
+2328,ORPHA:276432,Ogden Syndrome,NAA10,Naa10<em1(IMPC)Mbp> hem late,36.36,"HP:0001629,HP:0002119,HP:0100840,HP:0002213,HP:0000028","MP:0000639,MP:0002834,MP:0002059,MP:0001891,MP:0004931,MP:0002075"
+2329,ORPHA:276432,Ogden Syndrome,NAA10,Naa10<em1(IMPC)Mbp> hem middle,31.225,"HP:0100840,HP:0002213",MP:0002075
+2330,ORPHA:276432,Ogden Syndrome,NAA10,Naa10<em1(IMPC)Mbp> hom early,33.17,"HP:0000023,HP:0100840,HP:0002213,HP:0000028","MP:0001120,MP:0002075,MP:0010025"
+2331,ORPHA:276432,Ogden Syndrome,NAA10,Naa10<em1(IMPC)Mbp> hom late,26.03,"HP:0001629,HP:0000028","MP:0009709,MP:0000266,MP:0000274,MP:0001126"
+2332,ORPHA:276432,Ogden Syndrome,NAA10,Naa10<em1(IMPC)Mbp> hom middle,31.225,"HP:0100840,HP:0002213",MP:0002075
+2333,ORPHA:276435,Lower Motor Neuron Syndrome With Late-Adult Onset,CHCHD10,Chchd10<em1(IMPC)Mbp> hom early,22.155,HP:0003236,MP:0001566
+2334,ORPHA:276435,Lower Motor Neuron Syndrome With Late-Adult Onset,CHCHD10,Chchd10<em1(IMPC)H> hom early,26.965,HP:0003236,"MP:0005627,MP:0005565,MP:0005553"
+2335,ORPHA:276575,Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency,ABCC8,Abcc8<em1(IMPC)J> hom early,43.465,"HP:0003162,HP:0001520,HP:0000842,HP:0002173,HP:0100651,HP:0001985,HP:0000825","MP:0003960,MP:0005293"
+2336,ORPHA:276580,Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency,KCNJ11,Kcnj11<tm1b(EUCOMM)Wtsi> hom early,47.12,"HP:0003162,HP:0000842,HP:0002173,HP:0100651,HP:0004924,HP:0001985,HP:0000825","MP:0013278,MP:0005293"
+2337,ORPHA:276621,Sporadic Pheochromocytoma/Secreting Paraganglioma,DNMT3A,Dnmt3a<tm1b(KOMP)Wtsi> het early,16.62,"HP:0003072,HP:0001824","MP:0005179,MP:0003961,MP:0000186"
+2338,ORPHA:276621,Sporadic Pheochromocytoma/Secreting Paraganglioma,SDHB,Sdhb<tm1b(EUCOMM)Hmgu> het early,17.98,"HP:0003345,HP:0000096,HP:0000093,HP:0003639,HP:0000790,HP:0011979",MP:0002135
+2339,ORPHA:2771,Bruck Syndrome,FKBP10,Fkbp10<tm2a(EUCOMM)Wtsi> het early,35.745,"HP:0000939,HP:0002757,HP:0001387,HP:0002804",MP:0002896
+2340,ORPHA:2789,Lateral Meningocele Syndrome,NOTCH3,Notch3<tm1.1(KOMP)Vlcg> hom early,17.88,HP:0001629,MP:0002833
+2341,ORPHA:280,Wolf-Hirschhorn Syndrome,NELFA,Nelfa<em1(IMPC)Tcp> het early,33.18,"HP:0005264,HP:0000079,HP:0001631,HP:0000902,HP:0006655,HP:0001671,HP:0000047,HP:0008830,HP:0001654,HP:0000077,HP:0009778,HP:0001166,HP:0010109,HP:0001177,HP:0003363,HP:0001171","MP:0011874,MP:0000157,MP:0004952,MP:0002833,MP:0008528"
+2342,ORPHA:280,Wolf-Hirschhorn Syndrome,PIGG,Pigg<em1(IMPC)Bay> hom early,35.45,"HP:0005264,HP:0010464,HP:0001251,HP:0003363,HP:0000028","MP:0001406,MP:0005675"
+2343,ORPHA:280,Wolf-Hirschhorn Syndrome,LETM1,Letm1<em1(IMPC)Hmgu> het early,19.795,"HP:0000047,HP:0001251","MP:0000745,MP:0002135"
+2344,ORPHA:2801,Juvenile Paget Disease,TNFRSF11B,Tnfrsf11b<em1(IMPC)Mbp> hom early,42.41,"HP:0004437,HP:0000939,HP:0007703,HP:0002149,HP:0100670,HP:0000365,HP:0002757,HP:0000648","MP:0000063,MP:0001566,MP:0010124,MP:0002699,MP:0003795,MP:0004738,MP:0002968"
+2345,ORPHA:280195,Septopreoptic Holoprosencephaly,DLL1,Dll1<tm1Gos> het early,37.345,"HP:0002015,HP:0100710","MP:0001362,MP:0001399,MP:0012311"
+2346,ORPHA:280200,Microform Holoprosencephaly,SUFU,Sufu<tm1b(KOMP)Wtsi> het early,26.31,"HP:0000175,HP:0002247",MP:0000470
+2347,ORPHA:280200,Microform Holoprosencephaly,SUFU,Sufu<tm1b(KOMP)Wtsi> hom embryo,39.155,"HP:0001360,HP:0004322,HP:0001511","MP:0003232,MP:0003720,MP:0003984,MP:0006108,MP:0001697,MP:0003864"
+2348,ORPHA:280200,Microform Holoprosencephaly,FGFR1,Fgfr1<tm1.1(KOMP)Vlcg> hom embryo,31.52,"HP:0004322,HP:0001511","MP:0003984,MP:0001697"
+2349,ORPHA:280200,Microform Holoprosencephaly,NODAL,Nodal<tm1b(EUCOMM)Wtsi> het early,19.72,HP:0000612,MP:0005542
+2350,ORPHA:280365,Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy,LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,35.795,"HP:0000819,HP:0009771,HP:0000347,HP:0001870,HP:0000855,HP:0008968","MP:0005292,MP:0002764"
+2351,ORPHA:280633,Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome,PIGN,Pign<em1(IMPC)Mbp> het early,33.63,"HP:0000034,HP:0000072,HP:0002015,HP:0000126,HP:0008676","MP:0002989,MP:0001146,MP:0002135,MP:0001148,MP:0001399"
+2352,ORPHA:280633,Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome,PIGN,Pign<em1(IMPC)Mbp> hom embryo,28.935,"HP:0000269,HP:0010880","MP:0011495,MP:0001785"
+2353,ORPHA:280763,Severe Intellectual Disability And Progressive Spastic Paraplegia,AP4E1,Ap4e1<tm1a(KOMP)Wtsi> hom early,32.455,"HP:0025502,HP:0002761,HP:0002515,HP:0001288","MP:0003960,MP:0000062,MP:0001402"
+2354,ORPHA:280763,Severe Intellectual Disability And Progressive Spastic Paraplegia,AP4E1,Ap4e1<tm1b(KOMP)Wtsi> hom early,32.275,"HP:0000733,HP:0002515,HP:0025502,HP:0001332,HP:0001288","MP:0001364,MP:0001488,MP:0003960,MP:0002757,MP:0001513,MP:0020870,MP:0020420,MP:0001399"
+2355,ORPHA:280763,Severe Intellectual Disability And Progressive Spastic Paraplegia,AP4E1,Ap4e1<em1(IMPC)J> hom early,32.2,"HP:0002515,HP:0001332,HP:0001288","MP:0002757,MP:0001513"
+2356,ORPHA:280763,Severe Intellectual Disability And Progressive Spastic Paraplegia,AP4E1,Ap4e1<em1(IMPC)Bay> het embryo,27.72,HP:0001332,MP:0001491
+2357,ORPHA:280763,Severe Intellectual Disability And Progressive Spastic Paraplegia,AP4E1,Ap4e1<em1(IMPC)Bay> hom embryo,27.72,HP:0001332,MP:0001491
+2358,ORPHA:2822,Autosomal Recessive Spastic Paraplegia Type 11,SPG11,Spg11<em1(IMPC)J> hom early,31.72,"HP:0002354,HP:0001268,HP:0001278,HP:0000726,HP:0000712,HP:0000736","MP:0005333,MP:0010506,MP:0001417"
+2359,ORPHA:2828,Young-Onset Parkinson Disease,VPS13C,Vps13c<tm1b(EUCOMM)Hmgu> hom late,39.025,"HP:0012452,HP:0002067,HP:0002141,HP:0100710,HP:0000716,HP:0000741,HP:0000713","MP:0001402,MP:0020870"
+2360,ORPHA:2828,Young-Onset Parkinson Disease,SYNJ1,Synj1<tm1b(EUCOMM)Wtsi> het early,43.04,"HP:0012452,HP:0002067,HP:0001337,HP:0002063,HP:0001257,HP:0001332",MP:0000745
+2361,ORPHA:2828,Young-Onset Parkinson Disease,UCHL1,Uchl1<tm1b(EUCOMM)Hmgu> het early,40.635,"HP:0001332,HP:0012452,HP:0001337,HP:0100710,HP:0000716,HP:0000741,HP:0000713","MP:0001399,MP:0001488"
+2362,ORPHA:2828,Young-Onset Parkinson Disease,UCHL1,Uchl1<tm1b(EUCOMM)Hmgu> het late,36.64,"HP:0012452,HP:0100710,HP:0000716,HP:0000741,HP:0000713",MP:0001399
+2363,ORPHA:2828,Young-Onset Parkinson Disease,SNCA,Snca<em1(IMPC)H> hom early,26.35,HP:0002141,MP:0001392
+2364,ORPHA:284271,Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome,SYT14,Syt14<em1(IMPC)J> hom early,31.965,"HP:0001251,HP:0002070,HP:0002078",MP:0000745
+2365,ORPHA:284339,Pontocerebellar Hypoplasia Type 7,TOE1,Toe1<tm1.1(KOMP)Vlcg> het early,12.71,"HP:0030260,HP:0000054,HP:0030261",MP:0011436
+2366,ORPHA:284417,"Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form",PSAT1,Psat1<tm1a(KOMP)Wtsi> het early,18.285,"HP:0012279,HP:0002154",MP:0005632
+2367,ORPHA:2848,Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome,PRG4,Prg4<em1(IMPC)Ccpcz> hom early,32.815,"HP:0100490,HP:0005195,HP:0003940,HP:0005086,HP:0001225",MP:0002932
+2368,ORPHA:2849,Perlman Syndrome,DIS3L2,Dis3l2<em1(IMPC)Bay> het early,30.22,HP:0000098,MP:0001257
+2369,ORPHA:2850,Alopecia-Intellectual Disability Syndrome,AHSG,Ahsg<tm1.1(KOMP)Vlcg> hom early,36.94,"HP:0001371,HP:0000400,HP:0000365,HP:0001156,HP:0002353,HP:0001171","MP:0004738,MP:0002764,MP:0000062"
+2370,ORPHA:2850,Alopecia-Intellectual Disability Syndrome,ITGB6,Itgb6<em1(IMPC)Ccpcz> hom early,33.92,"HP:0001156,HP:0001171",MP:0002110
+2371,ORPHA:287,Classical Ehlers-Danlos Syndrome,COL5A2,Col5a2<em1(IMPC)Ccpcz> het early,31.575,HP:0000481,MP:0001314
+2372,ORPHA:288,Hereditary Elliptocytosis,EPB41,Epb41<tm1b(KOMP)Mbp> het early,42.635,"HP:0001877,HP:0001878,HP:0004446,HP:0004445,HP:0004447,HP:0001923,HP:0004804,HP:0001744","MP:0005562,MP:0002591"
+2373,ORPHA:288,Hereditary Elliptocytosis,GYPC,Gypc<em1(IMPC)Rbrc> hom early,33.79,"HP:0001877,HP:0001878,HP:0004446,HP:0004445,HP:0004447,HP:0002904,HP:0001923,HP:0003265,HP:0004804,HP:0001744",MP:0006352
+2374,ORPHA:288,Hereditary Elliptocytosis,SPTB,Sptb<em1(IMPC)J> het early,48.35,"HP:0001877,HP:0001878,HP:0004446,HP:0004445,HP:0004447,HP:0001923,HP:0004804,HP:0001744","MP:0003131,MP:0005562,MP:0002591"
+2375,ORPHA:2882,Sitosterolemia,ABCG8,Abcg8<tm1b(KOMP)Wtsi> hom early,68.19,"HP:0040185,HP:0003124,HP:0004446,HP:0001878,HP:0001650,HP:0002910,HP:0033341,HP:0001902,HP:0001744","MP:0002599,MP:0002591,MP:0010067,MP:0000598,MP:0008079,MP:0000691,MP:0013510,MP:0002941,MP:0005419,MP:0008207,MP:0008075,MP:0001552,MP:0005642,MP:0005178,MP:0000208,MP:0008040,MP:0005278,MP:0005627,MP:0005562,MP:0005553,MP:0013513,MP:0002874,MP:0005634,MP:0000689,MP:0005018,MP:0002968,MP:0005599,MP:0004151,MP:0003921,MP:0000599,MP:0005343"
+2376,ORPHA:2884,Piebaldism,SNAI2,Snai2<tm1.1(KOMP)Vlcg> hom early,53.45,"HP:0007544,HP:0005599,HP:0001053,HP:0002211,HP:0001100,HP:0000664,HP:0002227,HP:0002226","MP:0000367,MP:0002075"
+2377,ORPHA:2886,Tarp Syndrome,RBM10,Rbm10<em1(IMPC)Mbp> hem early,27.465,HP:0000028,"MP:0001157,MP:0001147"
+2378,ORPHA:2886,Tarp Syndrome,RBM10,Rbm10<em1(IMPC)Mbp> het early,21.73,"HP:0000648,HP:0001978,HP:0000085,HP:0000126","MP:0002989,MP:0002135,MP:0000689,MP:0002699,MP:0000691"
+2379,ORPHA:289,Ellis Van Creveld Syndrome,EVC2,Evc2<em1(IMPC)Mbp> hom early,41.99,"HP:0000691,HP:0011830,HP:0002488,HP:0000047,HP:0000164,HP:0000190,HP:0000039,HP:0000008,HP:0011065,HP:0000668,HP:0000684,HP:0000233,HP:0000028","MP:0000692,MP:0001120,MP:0000689,MP:0009709,MP:0030610,MP:0005084"
+2380,ORPHA:289157,Hypocalcemic Vitamin D-Dependent Rickets,CYP27B1,Cyp27b1<tm1b(EUCOMM)Hmgu> hom early,71.125,"HP:0002753,HP:0000886,HP:0000737,HP:0002748,HP:0001288,HP:0001744,HP:0002749,HP:0002199,HP:0001931,HP:0010537,HP:0003029,HP:0002752,HP:0003106,HP:0000897,HP:0002148,HP:0002901,HP:0000920,HP:0002663,HP:0005042,HP:0002970,HP:0002982,HP:0003020,HP:0002980,HP:0006297,HP:0001974,HP:0002659","MP:0002764,MP:0000559,MP:0005296,MP:0004509,MP:0005108,MP:0000221,MP:0000149,MP:0002932,MP:0001402,MP:0000198,MP:0005298,MP:0001417,MP:0003795,MP:0010025,MP:0000558,MP:0000063,MP:0000195,MP:0010124,MP:0005344,MP:0002968,MP:0005016,MP:0000552,MP:0000150,MP:0002187,MP:0005343"
+2381,ORPHA:289176,Autosomal Recessive Hypophosphatemic Rickets,DMP1,Dmp1<tm1.1(KOMP)Vlcg> hom early,54.34,"HP:0011001,HP:0011036,HP:0002749,HP:0100686,HP:0001363,HP:0008732,HP:0003109,HP:0100036,HP:0000117,HP:0100671,HP:0004912,HP:0006463","MP:0002135,MP:0003068,MP:0000198,MP:0000063,MP:0010124,MP:0003795,MP:0002968,MP:0010024"
+2382,ORPHA:289176,Autosomal Recessive Hypophosphatemic Rickets,ENPP1,Enpp1<em1(IMPC)Ccpcz> hom early,42.34,"HP:0011001,HP:0002749,HP:0005096,HP:0100686,HP:0005764,HP:0001363,HP:0002982,HP:0002812,HP:0008732,HP:0004576,HP:0002653,HP:0003416,HP:0003020,HP:0100781,HP:0004912,HP:0006463,HP:0002970","MP:0000137,MP:0004609,MP:0000162,MP:0002968,MP:0004357,MP:0004174,MP:0000149,MP:0002932"
+2383,ORPHA:289504,Combined Malonic And Methylmalonic Acidemia,ACSF3,Acsf3<em1(IMPC)Hmgu> hom early,19.55,"HP:0002912,HP:0040145",MP:0008810
+2384,ORPHA:29072,Hereditary Pheochromocytoma-Paraganglioma,TMEM127,Tmem127<tm1(KOMP)Wtsi> hom early,38.33,"HP:0003072,HP:0001605,HP:0001337","MP:0000745,MP:0005344,MP:0002968,MP:0005553,MP:0008806"
+2385,ORPHA:29072,Hereditary Pheochromocytoma-Paraganglioma,SDHC,Sdhc<tm1a(EUCOMM)Wtsi> het early,21.84,HP:0001824,MP:0001260
+2386,ORPHA:29072,Hereditary Pheochromocytoma-Paraganglioma,SDHA,Sdha<tm2b(KOMP)Wtsi> het early,33.065,HP:0003072,"MP:0005633,MP:0001554"
+2387,ORPHA:29072,Hereditary Pheochromocytoma-Paraganglioma,KIF1B,Kif1b<tm1b(KOMP)Wtsi> het early,34.435,"HP:0003072,HP:0001337","MP:0003019,MP:0005633,MP:0001488"
+2388,ORPHA:29072,Hereditary Pheochromocytoma-Paraganglioma,KIF1B,Kif1b<tm1b(KOMP)Wtsi> hom embryo,29.31,"HP:0001635,HP:0008629,HP:0003574,HP:0001337,HP:0002640,HP:0001342,HP:0000405,HP:0001962,HP:0011703","MP:0002177,MP:0001914,MP:0001491"
+2389,ORPHA:29072,Hereditary Pheochromocytoma-Paraganglioma,SDHB,Sdhb<tm1b(EUCOMM)Hmgu> het early,17.39,"HP:0003345,HP:0000096,HP:0000093,HP:0003639,HP:0000790,HP:0011979",MP:0002135
+2390,ORPHA:2924,Isolated Polycystic Liver Disease,SEC63,Sec63<tm1b(EUCOMM)Hmgu> het early,20.935,HP:0003573,MP:0002941
+2391,ORPHA:293181,Epilepsy Of Infancy With Migrating Focal Seizures,KCNT1,Kcnt1<em1(IMPC)Mbp> hom early,27.32,HP:0002540,MP:0001402
+2392,ORPHA:293181,Epilepsy Of Infancy With Migrating Focal Seizures,PLCB1,Plcb1<em1(IMPC)Mbp> het early,27.47,HP:0002540,MP:0001402
+2393,ORPHA:293181,Epilepsy Of Infancy With Migrating Focal Seizures,PLCB1,Plcb1<em1(IMPC)Mbp> het late,18.605,HP:0000826,MP:0001126
+2394,ORPHA:293843,3Mc Syndrome,MASP1,Masp1<tm1.1(KOMP)Vlcg> hom early,22.205,HP:0000593,MP:0001319
+2395,ORPHA:293843,3Mc Syndrome,COLEC10,Colec10<em2(IMPC)Tcp> hom early,32.9,"HP:0040016,HP:0008689,HP:0003298,HP:0002827,HP:0002974,HP:0002825,HP:0002650,HP:0003307","MP:0001120,MP:0002764,MP:0000137"
+2396,ORPHA:293948,1P21.3 Microdeletion Syndrome,DPYD,Dpyd<tm1b(KOMP)Wtsi> hom early,36.595,"HP:0000718,HP:0000742,HP:0100738,HP:0100716","MP:0002574,MP:0001399"
+2397,ORPHA:293964,Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy,AKT2,Akt2<tm1Wcs> het early,35.8,"HP:0001520,HP:0001956","MP:0003960,MP:0001262"
+2398,ORPHA:293964,Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy,AKT2,Akt2<tm1Wcs> hom early,54.695,"HP:0001520,HP:0002173,HP:0001958,HP:0001998,HP:0001956,HP:0001985","MP:0002078,MP:0003960,MP:0005559,MP:0001262"
+2399,ORPHA:294023,Neonatal Inflammatory Skin And Bowel Disease,ADAM17,Adam17<tm1a(EUCOMM)Wtsi> het early,12.535,"HP:0011228,HP:0100038",MP:0002098
+2400,ORPHA:296,Ollier Disease,PTH1R,Pth1r<tm1a(EUCOMM)Hmgu> het early,30.105,HP:0002797,MP:0010124
+2401,ORPHA:2965,Prolactinoma,CDH23,Cdh23<tm2b(EUCOMM)Wtsi> hom early,25.2,"HP:0000938,HP:0000939",MP:0010123
+2402,ORPHA:2971,Peroxisomal Acyl-Coa Oxidase Deficiency,ACOX1,Acox1<em1(IMPC)Bay> hom early,26.02,HP:0002240,MP:0000598
+2403,ORPHA:2995,Baraitser-Winter Cerebrofrontofacial Syndrome,ACTG1,Actg1<tm1.1(KOMP)Vlcg> het embryo,15.19,HP:0002326,MP:0001914
+2404,ORPHA:2995,Baraitser-Winter Cerebrofrontofacial Syndrome,ACTG1,Actg1<tm1.1(KOMP)Vlcg> hom embryo,19.31,"HP:0002326,HP:0100540,HP:0001510","MP:0003984,MP:0001914,MP:0001785"
+2405,ORPHA:3000,Familial Peripheral Male-Limited Precocious Puberty,LHCGR,Lhcgr<tm1(KOMP)Vlcg> hom early,14.24,HP:0000053,MP:0000706
+2406,ORPHA:300298,Severe Congenital Hypochromic Anemia With Ringed Sideroblasts,STEAP3,Steap3<tm1b(EUCOMM)Hmgu> het early,40.575,"HP:0025066,HP:0001903,HP:0001433,HP:0001896,HP:0012134,HP:0004823","MP:0002874,MP:0000208"
+2407,ORPHA:300298,Severe Congenital Hypochromic Anemia With Ringed Sideroblasts,STEAP3,Steap3<tm1b(EUCOMM)Hmgu> hom early,44.545,"HP:0025066,HP:0001903,HP:0001433,HP:0001896,HP:0012134,HP:0004823","MP:0002591,MP:0002874,MP:0005505,MP:0005562,MP:0003131,MP:0005642,MP:0000208"
+2408,ORPHA:300536,Ddost-Cdg,DDOST,Ddost<tm1.1(KOMP)Vlcg> het early,20.07,"HP:0000832,HP:0001397","MP:0000692,MP:0002768"
+2409,ORPHA:300605,Juvenile Amyotrophic Lateral Sclerosis,SIGMAR1,Sigmar1<tm1.1(KOMP)Wtsi> hom early,19.7,HP:0002015,MP:0001399
+2410,ORPHA:300605,Juvenile Amyotrophic Lateral Sclerosis,SPG11,Spg11<em1(IMPC)J> hom early,34.175,"HP:0100543,HP:0002179,HP:0002544,HP:0012048,HP:0002599,HP:0100360,HP:0031960,HP:0005750,HP:0002530,HP:0001332","MP:0010024,MP:0001417,MP:0001488"
+2411,ORPHA:3027,Caudal Regression Syndrome,FUZ,Fuz<em1(IMPC)Mbp> hom embryo,36.34,"HP:0000822,HP:0002023,HP:0001762,HP:0000202,HP:0002644,HP:0011867","MP:0002109,MP:0001914,MP:0008797,MP:0000562,MP:0000564,MP:0000111"
+2412,ORPHA:3063,"X-Linked Intellectual Disability, Snyder Type",SMS,Sms<tm1a(EUCOMM)Wtsi> hem early,31.7,"HP:0012385,HP:0000939,HP:0002757",MP:0000063
+2413,ORPHA:3063,"X-Linked Intellectual Disability, Snyder Type",SMS,Sms<tm1a(EUCOMM)Wtsi> hom early,14.665,HP:0000029,MP:0001925
+2414,ORPHA:307,Juvenile Myoclonic Epilepsy,KCNQ3,Kcnq3<em1(IMPC)H> hom early,43.335,HP:0000718,"MP:0001399,MP:0001415"
+2415,ORPHA:308,Progressive Myoclonic Epilepsy Type 1,CSTB,Cstb<tm1b(EUCOMM)Wtsi> hom early,34.72,"HP:0002392,HP:0002070,HP:0001251","MP:0002574,MP:0004738"
+2416,ORPHA:309155,"Sandhoff Disease, Infantile Form",HEXB,Hexb<tm1b(EUCOMM)Hmgu> hom early,30.475,"HP:0001257,HP:0001433,HP:0001336,HP:0002267","MP:0000745,MP:0005505,MP:0000220"
+2417,ORPHA:309162,"Sandhoff Disease, Juvenile Form",HEXB,Hexb<tm1b(EUCOMM)Hmgu> hom early,47.975,"HP:0002380,HP:0100543,HP:0002071,HP:0007256,HP:0002311,HP:0001251,HP:0001288","MP:0000745,MP:0001406,MP:0001392,MP:0001417"
+2418,ORPHA:309169,"Sandhoff Disease, Adult Form",HEXB,Hexb<tm1b(EUCOMM)Hmgu> hom early,71.735,"HP:0002380,HP:0001337,HP:0002066,HP:0001268,HP:0001257,HP:0003236,HP:0004373,HP:0001332","MP:0000745,MP:0001406,MP:0008810,MP:0001417,MP:0002968,MP:0001392,MP:0005343"
+2419,ORPHA:309282,"Alpha-Mannosidosis, Infantile Form",MAN2B1,Man2b1<em1(IMPC)H> hom early,22.245,HP:0001251,MP:0001402
+2420,ORPHA:309288,"Alpha-Mannosidosis, Adult Form",MAN2B1,Man2b1<em1(IMPC)H> hom early,24.4,HP:0001251,MP:0001402
+2421,ORPHA:3115,Roussy-Lévy Syndrome,MPZ,Mpz<em1(IMPC)Tcp> hom early,53.405,"HP:0002359,HP:0003487,HP:0002174,HP:0002070,HP:0002066,HP:0002317,HP:0002312,HP:0001288","MP:0000745,MP:0001406,MP:0001402"
+2422,ORPHA:3124,Saccharopinuria,AASS,Aass<em1(IMPC)Tcp> hom early,12.505,"HP:0003131,HP:0003297,HP:0032397",MP:0011874
+2423,ORPHA:313,Lamellar Ichthyosis,ALOXE3,Aloxe3<em1(IMPC)Mbp> het embryo,18.625,HP:0004322,MP:0003984
+2424,ORPHA:313,Lamellar Ichthyosis,ALOXE3,Aloxe3<em1(IMPC)Mbp> hom embryo,18.785,HP:0004322,MP:0003984
+2425,ORPHA:313,Lamellar Ichthyosis,ABCA12,Abca12<em1(IMPC)J> hom embryo,45.245,"HP:0100679,HP:0001944,HP:0000958,HP:0000389,HP:0011039","MP:0002177,MP:0009931,MP:0001785"
+2426,ORPHA:313,Lamellar Ichthyosis,SDR9C7,Sdr9c7<em1(IMPC)Mbp> het embryo,18.785,HP:0004322,MP:0003984
+2427,ORPHA:3138,Ulnar-Mammary Syndrome,TBX3,Tbx3<em1(IMPC)Mbp> het early,16.52,HP:0011675,MP:0006203
+2428,ORPHA:3144,Schneckenbecken Dysplasia,SLC35D1,Slc35d1<tm2b(EUCOMM)Hmgu> hom embryo,43.82,"HP:0000268,HP:0008108,HP:0001561,HP:0003038,HP:0000947,HP:0000944,HP:0002983,HP:0000175,HP:0005019,HP:0001004,HP:0012107","MP:0002109,MP:0011495,MP:0009908,MP:0001785,MP:0000111"
+2429,ORPHA:314603,Autosomal Recessive Spastic Ataxia With Leukoencephalopathy,MARS2,Mars2<tm1.1(KOMP)Vlcg> het early,24.655,HP:0000012,MP:0011436
+2430,ORPHA:314652,Variant Abeta2M Amyloidosis,B2M,B2m<tm1b(EUCOMM)Wtsi> het early,23.365,HP:0012332,MP:0001102
+2431,ORPHA:314911,Severe Canavan Disease,ASPA,Aspa<tm1b(EUCOMM)Wtsi> hom early,46.72,"HP:0200136,HP:0000737,HP:0002540,HP:0001254","MP:0001406,MP:0001402,MP:0011940,MP:0002757,MP:0001417,MP:0001399"
+2432,ORPHA:314978,X-Linked Non Progressive Cerebellar Ataxia,ATP2B3,Atp2b3<em1(IMPC)J> hem late,38.32,"HP:0002317,HP:0002470,HP:0002078","MP:0001392,MP:0001402"
+2433,ORPHA:314978,X-Linked Non Progressive Cerebellar Ataxia,ATP2B3,Atp2b3<em1(IMPC)J> hom late,38.465,"HP:0002317,HP:0002470,HP:0002078","MP:0002757,MP:0001392,MP:0001402"
+2434,ORPHA:3156,Senior-Loken Syndrome,NPHP1,Nphp1<tm1.1(KOMP)Vlcg> hom early,25.925,HP:0008209,"MP:0001147,MP:0001925"
+2435,ORPHA:3156,Senior-Loken Syndrome,IQCB1,Iqcb1<em1(IMPC)Bay> het early,30.67,HP:0000518,MP:0011962
+2436,ORPHA:3156,Senior-Loken Syndrome,CEP290,Cep290<em1(IMPC)Mbp> hom embryo,24.025,HP:0000822,MP:0001914
+2437,ORPHA:3156,Senior-Loken Syndrome,TRAF3IP1,Traf3ip1<em1(IMPC)Bay> het early,31.525,HP:0000518,MP:0011962
+2438,ORPHA:3156,Senior-Loken Syndrome,TRAF3IP1,Traf3ip1<em1(IMPC)Bay> hom embryo,20.56,HP:0004322,MP:0003984
+2439,ORPHA:3156,Senior-Loken Syndrome,INVS,Invs<em1(IMPC)Bay> hom embryo,24.63,HP:0000822,MP:0001914
+2440,ORPHA:3156,Senior-Loken Syndrome,NPHP4,Nphp4<em1(IMPC)Bay> hom early,26.045,HP:0008209,MP:0001925
+2441,ORPHA:3157,Septo-Optic Dysplasia Spectrum,FGFR1,Fgfr1<tm1.1(KOMP)Vlcg> hom embryo,17.775,HP:0004322,MP:0003984
+2442,ORPHA:3157,Septo-Optic Dysplasia Spectrum,HESX1,Hesx1<em1(IMPC)J> hom embryo,42.135,"HP:0100842,HP:0002032,HP:0002575,HP:0000175,HP:0000609","MP:0000111,MP:0008797,MP:0001293"
+2443,ORPHA:3157,Septo-Optic Dysplasia Spectrum,SOX2,Sox2<em1(IMPC)Mbp> het early,34.23,"HP:0000609,HP:0100842","MP:0002792,MP:0008259,MP:0010097,MP:0001325"
+2444,ORPHA:3157,Septo-Optic Dysplasia Spectrum,SOX2,Sox2<em1(IMPC)Mbp> het embryo,17.88,HP:0004322,MP:0003984
+2445,ORPHA:3162,Sézary Syndrome,TNFRSF1B,Tnfrsf1b<tm1a(EUCOMM)Wtsi> hom early,39.985,"HP:0002843,HP:0004332,HP:0033221,HP:0001744","MP:0005014,MP:0005018"
+2446,ORPHA:3162,Sézary Syndrome,CD28,Cd28<tm1a(EUCOMM)Hmgu> hom early,42.025,"HP:0002843,HP:0004332,HP:0033221,HP:0001744","MP:0005018,MP:0008074,MP:0000218"
+2447,ORPHA:317,Erythrokeratodermia Variabilis,GJB4,Gjb4<tm1.1(KOMP)Vlcg> hom early,25.395,HP:0000035,"MP:0009709,MP:0001120,MP:0004906"
+2448,ORPHA:317,Erythrokeratodermia Variabilis,GJB3,Gjb3<tm1.1(KOMP)Vlcg> het early,22.025,"HP:0000365,HP:0000411",MP:0004738
+2449,ORPHA:317,Erythrokeratodermia Variabilis,GJB3,Gjb3<tm1.1(KOMP)Vlcg> hom embryo,46.915,"HP:0001034,HP:0000958,HP:0004322,HP:0010783,HP:0007400","MP:0003717,MP:0009931,MP:0003984,MP:0011239"
+2450,ORPHA:317,Erythrokeratodermia Variabilis,GJA1,Gja1<em1(IMPC)Ccpcz> hom embryo,20.02,HP:0000252,MP:0011496
+2451,ORPHA:31709,Infantile Convulsions And Choreoathetosis,PRRT2,Prrt2<tm1b(KOMP)Wtsi> hom early,32.74,"HP:0001266,HP:0002305,HP:0001332",MP:0001489
+2452,ORPHA:319182,Wiedemann-Steiner Syndrome,KMT2A,Kmt2a<em1(IMPC)Marc> het early,16.56,"HP:0010485,HP:0001508","MP:0003960,MP:0000063"
+2453,ORPHA:319514,Combined Oxidative Phosphorylation Defect Type 13,PNPT1,Pnpt1<tm1a(KOMP)Wtsi> het early,27.465,HP:0001266,MP:0001406
+2454,ORPHA:319675,"Microcephalic Primordial Dwarfism, Dauber Type",NIN,Nin<tm1b(EUCOMM)Hmgu> hom early,11.18,HP:0008551,MP:0004738
+2455,ORPHA:3202,Dehydrated Hereditary Stomatocytosis,PIEZO1,Piezo1<tm1b(KOMP)Wtsi> het early,26.685,"HP:0003573,HP:0003265,HP:0011042,HP:0003281",MP:0002941
+2456,ORPHA:3202,Dehydrated Hereditary Stomatocytosis,KCNN4,Kcnn4<em1(IMPC)Ccpcz> hom early,54.15,"HP:0001878,HP:0032231,HP:0001923,HP:0001744,HP:0001930,HP:0005518,HP:0010972,HP:0001900,HP:0025548,HP:0011042,HP:0001981,HP:0001081,HP:0001901,HP:0001046,HP:0030242,HP:0003281,HP:0003573,HP:0003265,HP:0004804,HP:0001972","MP:0002875,MP:0001146,MP:0000601,MP:0001157,MP:0010067,MP:0000703,MP:0002059,MP:0010090,MP:0000598,MP:0004952,MP:0002874,MP:0000689,MP:0000706,MP:0001148,MP:0000709,MP:0000691"
+2457,ORPHA:3203,Overhydrated Hereditary Stomatocytosis,RHAG,Rhag<em1(IMPC)Ccpcz> hom early,46.205,"HP:0001878,HP:0004446,HP:0011273,HP:0025065,HP:0025547,HP:0001923,HP:0001744","MP:0002339,MP:0000702,MP:0000703,MP:0005562,MP:0000274,MP:0000709"
+2458,ORPHA:320385,Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation,TECPR2,Tecpr2<em1(IMPC)J> hom early,25.54,"HP:0002066,HP:0001310",MP:0002574
+2459,ORPHA:320385,Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation,TECPR2,Tecpr2<em1(IMPC)J> hom late,15.09,HP:0000294,MP:0002098
+2460,ORPHA:3204,Stormorken-Sjaastad-Langslet Syndrome,STIM1,Stim1<em1(IMPC)Mbp> het early,35.935,"HP:0001903,HP:0001746","MP:0002339,MP:0000702,MP:0000218,MP:0005013,MP:0000219"
+2461,ORPHA:3204,Stormorken-Sjaastad-Langslet Syndrome,STIM1,Stim1<em1(IMPC)Mbp> het embryo,20.45,HP:0004322,MP:0003984
+2462,ORPHA:3204,Stormorken-Sjaastad-Langslet Syndrome,STIM1,Stim1<em1(IMPC)Mbp> het late,39.635,"HP:0001903,HP:0001746","MP:0000691,MP:0000689"
+2463,ORPHA:320406,Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome,KLC2,Klc2<tm1e(EUCOMM)Wtsi> hom early,39.145,"HP:0000648,HP:0000543,HP:0002267","MP:0006358,MP:0004738"
+2464,ORPHA:320411,Autosomal Recessive Spastic Paraplegia Type 56,CYP2U1,Cyp2u1<tm1b(EUCOMM)Wtsi> hom early,36.06,HP:0001332,MP:0001513
+2465,ORPHA:3208,Isolated Succinate-Coq Reductase Deficiency,SDHA,Sdha<tm2b(KOMP)Wtsi> het early,32.93,HP:0000737,MP:0020870
+2466,ORPHA:3208,Isolated Succinate-Coq Reductase Deficiency,SDHB,Sdhb<tm1b(EUCOMM)Hmgu> het early,27.91,"HP:0000076,HP:0002505,HP:0001251","MP:0002135,MP:0001402"
+2467,ORPHA:3220,Deafness-Enamel Hypoplasia-Nail Defects Syndrome,PEX1,Pex1<tm1e.1(EUCOMM)Hmgu> het early,36.2,HP:0011675,"MP:0005333,MP:0005140"
+2468,ORPHA:3237,Multiple Synostoses Syndrome,GDF5,Gdf5<em1(IMPC)H> hom early,50.675,"HP:0010579,HP:0009773,HP:0001387,HP:0007598,HP:0004279,HP:0001156,HP:0011304","MP:0000556,MP:0000572,MP:0000062,MP:0002110,MP:0000550"
+2469,ORPHA:324290,Early-Onset Lafora Body Disease,PRDM8,Prdm8<em1(IMPC)Wtsi> hom early,21.53,HP:0001251,MP:0001402
+2470,ORPHA:324422,Alg13-Cdg,ALG13,Alg13<tm1a(KOMP)Wtsi> hom early,20.165,HP:0004325,MP:0003961
+2471,ORPHA:324442,Autosomal Recessive Axonal Neuropathy With Neuromyotonia,HINT1,Hint1<tm1a(EUCOMM)Wtsi> hom early,31.1,"HP:0002359,HP:0007289,HP:0002356,HP:0002273","MP:0000745,MP:0001488"
+2472,ORPHA:324604,Classic Multiminicore Myopathy,SELENON,Selenon<tm1a(KOMP)Wtsi> hom early,26.36,"HP:0003306,HP:0002828,HP:0002650",MP:0004609
+2473,ORPHA:324737,Srd5A3-Cdg,SRD5A3,Srd5a3<tm1b(EUCOMM)Wtsi> het early,16.185,HP:0000648,MP:0004738
+2474,ORPHA:325,Congenital Factor Ii Deficiency,F2,F2<tm1b(EUCOMM)Hmgu> het early,31.365,HP:0001903,MP:0002591
+2475,ORPHA:3250,Proximal Symphalangism,GDF5,Gdf5<em1(IMPC)H> hom early,46.81,"HP:0100264,HP:0008368,HP:0100490,HP:0005048,HP:0006101,HP:0003019,HP:0004209,HP:0003070,HP:0003042,HP:0001156,HP:0005916,HP:0005880,HP:0040019","MP:0000556,MP:0000572,MP:0000062,MP:0002110,MP:0000550"
+2476,ORPHA:328,Congenital Factor X Deficiency,F10,F10<tm1b(EUCOMM)Hmgu> het early,17.9,HP:0000790,MP:0003917
+2477,ORPHA:3286,Catecholaminergic Polymorphic Ventricular Tachycardia,CASQ2,Casq2<tm1b(KOMP)Wtsi> het early,63.69,"HP:0001663,HP:0001279,HP:0031677,HP:0004756,HP:0004755,HP:0005110,HP:0001645,HP:0001962,HP:0001695","MP:0004122,MP:0003929"
+2478,ORPHA:3287,Takayasu Arteritis,MLX,Mlx<tm1.1(KOMP)Vlcg> hom early,16.275,"HP:0011227,HP:0001920","MP:0005633,MP:0001759"
+2479,ORPHA:3287,Takayasu Arteritis,MLX,Mlx<tm1.1(KOMP)Vlcg> hom late,29.69,"HP:0001903,HP:0001824","MP:0003960,MP:0005562,MP:0002591"
+2480,ORPHA:329178,Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy,DPM2,Dpm2<tm1b(EUCOMM)Hmgu> het early,29.6,"HP:0002240,HP:0003236","MP:0005568,MP:0000274"
+2481,ORPHA:329224,Schuurs-Hoeijmakers Syndrome,PACS1,Pacs1<em1(IMPC)Hmgu> het early,32.265,HP:0000028,MP:0002059
+2482,ORPHA:329249,Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency,SH2B1,Sh2b1<em1(IMPC)Ics> het early,31.575,HP:0000842,MP:0005293
+2483,ORPHA:329284,Beta-Propeller Protein-Associated Neurodegeneration,WDR45,Wdr45<em1(IMPC)J> hem early,46.73,"HP:0000718,HP:0001337,HP:0012332,HP:0000648,HP:0001332","MP:0001399,MP:0004738,MP:0001486"
+2484,ORPHA:329284,Beta-Propeller Protein-Associated Neurodegeneration,WDR45,Wdr45<em1(IMPC)J> hem late,44.225,"HP:0000718,HP:0001337,HP:0001332","MP:0001399,MP:0001513"
+2485,ORPHA:329284,Beta-Propeller Protein-Associated Neurodegeneration,WDR45,Wdr45<em1(IMPC)J> hom late,42.81,"HP:0000718,HP:0000726","MP:0001399,MP:0001415"
+2486,ORPHA:329308,Fatty Acid Hydroxylase-Associated Neurodegeneration,FA2H,Fa2h<em1(IMPC)Mbp> hom early,31.055,"HP:0000648,HP:0002015,HP:0000716","MP:0002699,MP:0020421,MP:0001325"
+2487,ORPHA:329314,Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency,DGUOK,Dguok<em1(IMPC)J> hom early,40.625,"HP:0000726,HP:0100543,HP:0001251,HP:0000716","MP:0001392,MP:0001402,MP:0001417"
+2488,ORPHA:32960,Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome,TNFRSF1A,Tnfrsf1a<tm2b(EUCOMM)Wtsi> hom early,38.765,"HP:0001974,HP:0001744","MP:0005011,MP:0012362,MP:0000218,MP:0005013,MP:0002606"
+2489,ORPHA:32960,Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome,TNFRSF1A,Tnfrsf1a<tm2b(EUCOMM)Wtsi> hom late,40.02,"HP:0011227,HP:0001974,HP:0001744","MP:0012362,MP:0000218,MP:0000195,MP:0005013,MP:0000222,MP:0000223,MP:0002606"
+2490,ORPHA:32960,Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome,TNFRSF1A,Tnfrsf1a<em1(IMPC)Ccpcz> hom early,35.12,"HP:0011227,HP:0001701,HP:0001637,HP:0001974,HP:0001744","MP:0010850,MP:0000274,MP:0008044,MP:0000219,MP:0005343,MP:0000266"
+2491,ORPHA:329971,Generalized Juvenile Polyposis/Juvenile Polyposis Coli,ENG,Eng<em1(IMPC)Mbp> het early,17.2,HP:0001903,MP:0000219
+2492,ORPHA:329971,Generalized Juvenile Polyposis/Juvenile Polyposis Coli,ENG,Eng<em1(IMPC)Mbp> hom embryo,16.92,HP:0001510,MP:0003984
+2493,ORPHA:330050,Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect,DNM1L,Dnm1l<tm1b(KOMP)Wtsi> het early,49.465,HP:0000648,"MP:0002699,MP:0001289,MP:0008259"
+2494,ORPHA:3303,Tetralogy Of Fallot,TBX1,Tbx1<em1(IMPC)Mbp> het early,19.715,HP:0000028,MP:0001944
+2495,ORPHA:3303,Tetralogy Of Fallot,TBX1,Tbx1<em1(IMPC)Mbp> hom embryo,40.15,HP:0001511,MP:0003984
+2496,ORPHA:33069,Dravet Syndrome,GABRG2,Gabrg2<em1(IMPC)Mbp> het early,19.255,HP:0003066,MP:0000063
+2497,ORPHA:33110,Autosomal Agammaglobulinemia,SPI1,Spi1<tm2b(EUCOMM)Wtsi> het early,22.025,HP:0001875,"MP:0002590,MP:0002875"
+2498,ORPHA:33110,Autosomal Agammaglobulinemia,LRRC8A,Lrrc8a<tm1.1(KOMP)Vlcg> het early,27.3,"HP:0002205,HP:0002110","MP:0004882,MP:0001175"
+2499,ORPHA:33110,Autosomal Agammaglobulinemia,LRRC8A,Lrrc8a<tm1.1(KOMP)Vlcg> hom embryo,32.295,HP:0001944,MP:0001785
+2500,ORPHA:33110,Autosomal Agammaglobulinemia,BLNK,Blnk<em1(IMPC)H> hom early,45.25,"HP:0001875,HP:0012115","MP:0002607,MP:0004953,MP:0005011,MP:0000692,MP:0005016,MP:0000221,MP:0000219"
+2501,ORPHA:3318,Essential Thrombocythemia,MPL,Mpl<em1(IMPC)Ccpcz> het early,42.055,"HP:0002488,HP:0011875,HP:0001894,HP:0001974,HP:0001744","MP:0000691,MP:0000689"
+2502,ORPHA:3318,Essential Thrombocythemia,MPL,Mpl<em1(IMPC)Ccpcz> hom early,51.085,"HP:0002488,HP:0011875,HP:0011974,HP:0001894,HP:0001974,HP:0001744","MP:0002397,MP:0000703,MP:0000709,MP:0000689"
+2503,ORPHA:3319,Congenital Amegakaryocytic Thrombocytopenia,THPO,Thpo<tm1.1(KOMP)Vlcg> hom early,58.44,"HP:0011902,HP:0001903,HP:0001873","MP:0003179,MP:0002599"
+2504,ORPHA:3319,Congenital Amegakaryocytic Thrombocytopenia,MPL,Mpl<em1(IMPC)Ccpcz> het early,39.42,"HP:0001671,HP:0011902,HP:0001903,HP:0001873","MP:0003921,MP:0000691,MP:0000689"
+2505,ORPHA:3319,Congenital Amegakaryocytic Thrombocytopenia,MPL,Mpl<em1(IMPC)Ccpcz> hom early,37.335,"HP:0004331,HP:0011902,HP:0001903,HP:0001873","MP:0002397,MP:0000703,MP:0000709,MP:0000689"
+2506,ORPHA:33364,Trichothiodystrophy,GTF2E2,Gtf2e2<tm1b(EUCOMM)Wtsi> het early,23.69,"HP:0001875,HP:0001903,HP:0025548",MP:0002599
+2507,ORPHA:33364,Trichothiodystrophy,ERCC3,Ercc3<tm1b(NCOM)Mfgc> het early,30.145,"HP:0001875,HP:0001903,HP:0025548",MP:0005562
+2508,ORPHA:33364,Trichothiodystrophy,AARS1,Aars1<em1(IMPC)Bay> het early,29.645,"HP:0006297,HP:0002828,HP:0001537,HP:0007485",MP:0010025
+2509,ORPHA:3337,Primary Fanconi Renotubular Syndrome,NDUFAF6,Ndufaf6<tm1a(EUCOMM)Wtsi> het early,20.02,HP:0001824,MP:0001260
+2510,ORPHA:3337,Primary Fanconi Renotubular Syndrome,GATM,Gatm<tm1b(KOMP)Wtsi> hom early,37.505,"HP:0002148,HP:0003234,HP:0002150,HP:0003646,HP:0003537,HP:0004912,HP:0002900","MP:0005179,MP:0005627,MP:0002966,MP:0008806,MP:0005343"
+2511,ORPHA:3337,Primary Fanconi Renotubular Syndrome,EHHADH,Ehhadh<tm1b(KOMP)Wtsi> hom early,37.48,"HP:0002148,HP:0003234,HP:0002150,HP:0003646,HP:0003537,HP:0004912,HP:0002900",MP:0005627
+2512,ORPHA:33445,Neuroectodermal Melanolysosomal Disease,MYO5A,Myo5a<tm1a(KOMP)Wtsi> hom early,54.045,"HP:0007440,HP:0002216,HP:0005599,HP:0001010",MP:0002075
+2513,ORPHA:3377,Trismus-Pseudocamptodactyly Syndrome,MYH8,Myh8<em1(IMPC)Tcp> het early,29.035,"HP:0002827,HP:0009773",MP:0000157
+2514,ORPHA:3384,Common Arterial Trunk,TBX1,Tbx1<em1(IMPC)Mbp> het early,11.11,HP:0000778,MP:0001944
+2515,ORPHA:3384,Common Arterial Trunk,TBX1,Tbx1<em1(IMPC)Mbp> hom embryo,27.375,"HP:0001511,HP:0100598","MP:0003984,MP:0001785"
+2516,ORPHA:3447,Weaver Syndrome,EZH2,Ezh2<tm1a(EUCOMM)Wtsi> het early,26.52,HP:0002650,MP:0004650
+2517,ORPHA:3451,Infantile Epileptic Spasms Syndrome,WDR45,Wdr45<em1(IMPC)J> hem early,36.785,HP:0002521,MP:0004738
+2518,ORPHA:3452,Whipple Disease,IRF4,Irf4<em1(IMPC)Mbp> hom early,45.175,"HP:0001903,HP:0100721,HP:0002240,HP:0001744","MP:0002339,MP:0000702,MP:0000709,MP:0000703,MP:0004952,MP:0000689,MP:0005016,MP:0000219,MP:0000691"
+2519,ORPHA:3453,Autoimmune Polyendocrinopathy Type 1,AIRE,Aire<tm1.1(NCOM)Mfgc> het early,22.155,HP:0003118,MP:0005278
+2520,ORPHA:3455,Wiedemann-Rautenstrauch Syndrome,POLR3A,Polr3a<em2(IMPC)Tcp> het early,23.425,"HP:0000076,HP:0030265,HP:0000938,HP:0000047,HP:0000126,HP:0100581","MP:0011874,MP:0010123"
+2521,ORPHA:3463,Wolfram Syndrome,CISD2,Cisd2<tm1a(EUCOMM)Wtsi> hom early,30.19,"HP:0002239,HP:0000819,HP:0001638,HP:0001251","MP:0002078,MP:0001402,MP:0005542"
+2522,ORPHA:3473,Zimmermann-Laband Syndrome,ATP6V1B2,Atp6v1b2<tm1b(KOMP)Wtsi> het early,26.405,HP:0001744,"MP:0002217,MP:0002591,MP:0002874,MP:0005562,MP:0005642"
+2523,ORPHA:3474,Chime Syndrome,PIGL,Pigl<tm1b(KOMP)Wtsi> het early,14.89,"HP:0002213,HP:0008070",MP:0002098
+2524,ORPHA:349,Fucosidosis,FUCA1,Fuca1<em1(IMPC)J> hom early,18.815,HP:0000365,MP:0004738
+2525,ORPHA:35,Propionic Acidemia,PCCB,Pccb<tm1.1(KOMP)Vlcg> het early,20.82,HP:0001992,"MP:0002135,MP:0008528"
+2526,ORPHA:35,Propionic Acidemia,PCCB,Pccb<tm1.1(KOMP)Vlcg> het embryo,29.9,"HP:0011675,HP:0001638",MP:0001914
+2527,ORPHA:35,Propionic Acidemia,PCCB,Pccb<tm1.1(KOMP)Vlcg> hom embryo,28.145,"HP:0011675,HP:0001638",MP:0001914
+2528,ORPHA:35078,T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency,JAK3,Jak3<em1(IMPC)Mbp> het early,20.39,HP:0001433,"MP:0002339,MP:0000702"
+2529,ORPHA:35099,Non-Syndromic Bicoronal Craniosynostosis,TWIST1,Twist1<em1(IMPC)Rbrc> het early,40.355,"HP:0009701,HP:0001156","MP:0004509,MP:0000572,MP:0002110"
+2530,ORPHA:35099,Non-Syndromic Bicoronal Craniosynostosis,TWIST1,Twist1<em1(IMPC)Rbrc> het late,45.055,"HP:0009701,HP:0001156","MP:0000572,MP:0002110"
+2531,ORPHA:352490,Autism Spectrum Disorder Due To Auts2 Deficiency,AUTS2,Auts2<em1(IMPC)Wtsi> het early,18.18,HP:0001518,MP:0003960
+2532,ORPHA:352530,Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome,TRAPPC9,Trappc9<tm1a(EUCOMM)Wtsi> hom early,19.46,"HP:0001513,HP:0011228,HP:0000851,HP:0000664","MP:0002079,MP:0003961,MP:0002098"
+2533,ORPHA:352723,Attenuated Chédiak-Higashi Syndrome,LYST,Lyst<tm1b(EUCOMM)Wtsi> hom early,35.91,"HP:0001107,HP:0007513","MP:0002075,MP:0001322,MP:0001325"
+2534,ORPHA:353327,Congenital Myasthenic Syndromes With Glycosylation Defect,ALG2,Alg2<tm1.1(KOMP)Vlcg> het early,19.255,HP:0003691,MP:0002110
+2535,ORPHA:353327,Congenital Myasthenic Syndromes With Glycosylation Defect,GFPT1,Gfpt1<tm1b(EUCOMM)Wtsi> het early,18.975,HP:0003236,"MP:0005178,MP:0001556"
+2536,ORPHA:35612,Nanophthalmos,ALDH1A3,Aldh1a3<tm1b(KOMP)Wtsi> hom embryo,62.04,HP:0000568,MP:0001297
+2537,ORPHA:35612,Nanophthalmos,PRSS56,Prss56<em2(IMPC)J> hom early,21.625,HP:0007703,MP:0002075
+2538,ORPHA:35612,Nanophthalmos,SOX2,Sox2<em1(IMPC)Mbp> het early,51.075,"HP:0000610,HP:0007703","MP:0010097,MP:0001325,MP:0001319,MP:0008259,MP:0002792"
+2539,ORPHA:35737,Morning Glory Disc Anomaly,PAX6,Pax6<em1(IMPC)Mbp> het early,30.775,HP:0000518,"MP:0001314,MP:0005542"
+2540,ORPHA:35858,Imerslund-Gräsbeck Syndrome,CUBN,Cubn<tm1b(EUCOMM)Hmgu> het early,39.615,"HP:0032566,HP:0001889,HP:0020061,HP:0001876,HP:0004821,HP:0001875,HP:0004823,HP:0001923,HP:0001873,HP:0001972",MP:0005642
+2541,ORPHA:361,Familial Glucocorticoid Deficiency,NNT,Nnt<em1(IMPC)H> hom early,34.915,"HP:0008163,HP:0002173,HP:0012734,HP:0002902,HP:0002153","MP:0005178,MP:0005559"
+2542,ORPHA:363400,Severe Neurodegenerative Syndrome With Lipodystrophy,BSCL2,Bscl2<tm1b(EUCOMM)Hmgu> hom early,45.12,"HP:0009064,HP:0000752,HP:0025128,HP:0003758,HP:0000842,HP:0002066,HP:0002155,HP:0000855,HP:0001251","MP:0001406,MP:0002965,MP:0000194,MP:0002941,MP:0005343,MP:0001402,MP:0005568,MP:0005559,MP:0001566,MP:0005178,MP:0002968,MP:0011941,MP:0011939,MP:0010025,MP:0013279,MP:0001556,MP:0005292"
+2543,ORPHA:363417,Temtamy Preaxial Brachydactyly Syndrome,CHSY1,Chsy1<em1(IMPC)Mbp> hom early,41.455,"HP:0000517,HP:0008368,HP:0100266,HP:0006152,HP:0000369,HP:0005037,HP:0000648,HP:0001090,HP:0008625,HP:0012795","MP:0001304,MP:0001314,MP:0000063,MP:0001325,MP:0001297,MP:0002699,MP:0004738"
+2544,ORPHA:363444,Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome,THOC6,Thoc6<em5(IMPC)Tcp> het early,28.225,"HP:0000047,HP:0000054,HP:0012382,HP:0030127","MP:0010393,MP:0004832"
+2545,ORPHA:363523,Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome,COG6,Cog6<tm1a(EUCOMM)Wtsi> hom early,18.215,"HP:0012115,HP:0005338","MP:0008182,MP:0002075"
+2546,ORPHA:363618,Lmna-Related Cardiocutaneous Progeria Syndrome,LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,16.405,HP:0030445,MP:0008259
+2547,ORPHA:36387,Genetic Epilepsy With Febrile Seizure Plus,ADGRV1,Adgrv1<tm1.1(KOMP)Vlcg> hom early,48.865,"HP:0004684,HP:0100694,HP:0001763,HP:0010850,HP:0001337,HP:0008770,HP:0003066","MP:0001489,MP:0001486,MP:0002764,MP:0004738,MP:0001399"
+2548,ORPHA:36387,Genetic Epilepsy With Febrile Seizure Plus,PRRT2,Prrt2<tm1b(KOMP)Wtsi> hom early,47.55,"HP:0100543,HP:0004684,HP:0100694,HP:0001763,HP:0001337,HP:0003066","MP:0001489,MP:0001454,MP:0002764"
+2549,ORPHA:36387,Genetic Epilepsy With Febrile Seizure Plus,HCN1,Hcn1<em1(IMPC)H> hom early,55.605,"HP:0100543,HP:0002067,HP:0010850,HP:0001337,HP:0002311,HP:0001251,HP:0007010","MP:0000745,MP:0001406,MP:0001402,MP:0001417,MP:0004738,MP:0001392"
+2550,ORPHA:36387,Genetic Epilepsy With Febrile Seizure Plus,GABRG2,Gabrg2<em1(IMPC)Mbp> het early,19.8,HP:0003066,MP:0000063
+2551,ORPHA:364055,Severe Early-Childhood-Onset Retinal Dystrophy,RPE65,Rpe65<tm1a(EUCOMM)Hmgu> hom early,49.93,"HP:0007722,HP:0000546,HP:0001103,HP:0012230,HP:0007843,HP:0012426,HP:0001116,HP:0000541,HP:0011488,HP:0000533,HP:0007814,HP:0007787,HP:0011484,HP:0007737,HP:0007793,HP:0007703,HP:0000543","MP:0001317,MP:0006243,MP:0001325"
+2552,ORPHA:364055,Severe Early-Childhood-Onset Retinal Dystrophy,SPATA7,Spata7<tm1.1(KOMP)Vlcg> hom early,46.605,"HP:0007722,HP:0000546,HP:0001103,HP:0012230,HP:0007843,HP:0012426,HP:0001116,HP:0000541,HP:0007814,HP:0007703,HP:0000533,HP:0000543,HP:0007737,HP:0007793",MP:0001325
+2553,ORPHA:36412,Hypocomplementemic Urticarial Vasculitis,DNASE1L3,Dnase1l3<em1(IMPC)Mbp> hom early,45.365,"HP:0000509,HP:0001541,HP:0002716,HP:0002240,HP:0001744","MP:0000601,MP:0001304,MP:0010067,MP:0004952,MP:0000598,MP:0000689,MP:0000691"
+2554,ORPHA:366,Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency,AGL,Agl<tm1b(EUCOMM)Wtsi> hom early,58.51,"HP:0002155,HP:0001943","MP:0002941,MP:0005343,MP:0010090,MP:0008810,MP:0005344,MP:0002968,MP:0008806,MP:0005560,MP:0013279,MP:0005178,MP:0005293"
+2555,ORPHA:368,Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency,PYGM,Pygm<em1(IMPC)J> hom early,42.565,"HP:0001649,HP:0001639,HP:0003236,HP:0030234","MP:0010506,MP:0002968,MP:0005343,MP:0000195"
+2556,ORPHA:369891,Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency,MED13L,Med13l<em1(IMPC)Mbp> hom embryo,43.985,"HP:0004322,HP:0001537,HP:0007633","MP:0001297,MP:0003984"
+2557,ORPHA:369942,Cadds,ABCD1,Abcd1<tm1a(EUCOMM)Wtsi> hem early,46.01,"HP:0033643,HP:0000518","MP:0001304,MP:0001303,MP:0008821"
+2558,ORPHA:370022,Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome,LAMA1,Lama1<tm2b(EUCOMM)Hmgu> het early,50.775,"HP:0100543,HP:0000556,HP:0002599,HP:0001105,HP:0003236","MP:0001488,MP:0002941,MP:0010097,MP:0001325,MP:0001417,MP:0001289,MP:0002792"
+2559,ORPHA:370097,Oculocutaneous Albinism Type 6,SLC24A5,Slc24a5<tm1b(KOMP)Mbp> hom early,53.115,"HP:0008059,HP:0030613,HP:0001098,HP:0008034","MP:0012122,MP:0002075,MP:0001325"
+2560,ORPHA:370924,Stt3B-Cdg,STT3B,Stt3b<em1(IMPC)J> het early,22.6,HP:0001873,MP:0005562
+2561,ORPHA:370924,Stt3B-Cdg,STT3B,Stt3b<em1(IMPC)J> hom embryo,34.695,HP:0001511,MP:0003984
+2562,ORPHA:370930,Xylt1-Cdg,XYLT1,Xylt1<em1(IMPC)J> het early,27.335,"HP:0001007,HP:0000664",MP:0002075
+2563,ORPHA:370930,Xylt1-Cdg,XYLT1,Xylt1<em1(IMPC)J> hom embryo,15.225,"HP:0003015,HP:0030084,HP:0002673,HP:0100864,HP:0011304",MP:0002109
+2564,ORPHA:371428,Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum,MMP2,Mmp2<em1(IMPC)Mbp> hom early,35.92,"HP:0006234,HP:0001085,HP:0000938,HP:0045039,HP:0000612,HP:0001059,HP:0001495,HP:0000939,HP:0002797,HP:0009139","MP:0001304,MP:0002699,MP:0003795,MP:0001325"
+2565,ORPHA:371428,Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum,MMP2,Mmp2<em1(IMPC)Mbp> hom late,33.545,"HP:0000822,HP:0000147,HP:0005994,HP:0006234,HP:0000938,HP:0010314,HP:0045039,HP:0000939,HP:0001495,HP:0001678,HP:0002797,HP:0009139","MP:0010124,MP:0002059,MP:0002626"
+2566,ORPHA:373,Simpson-Golabi-Behmel Syndrome,GPC4,Gpc4<tm2b(EUCOMM)Wtsi> hem early,32.615,"HP:0001744,HP:0001748,HP:0001943","MP:0013278,MP:0005561,MP:0005641"
+2567,ORPHA:373,Simpson-Golabi-Behmel Syndrome,GPC4,Gpc4<tm2b(EUCOMM)Wtsi> hom early,24.17,"HP:0000431,HP:0003196",MP:0000443
+2568,ORPHA:377,Gorlin Syndrome,SUFU,Sufu<tm1b(KOMP)Wtsi> hom embryo,32.035,"HP:0000238,HP:0001166,HP:0001156","MP:0003232,MP:0003720,MP:0006108,MP:0005650,MP:0003864"
+2569,ORPHA:379,Chronic Granulomatous Disease,CYBC1,Cybc1<tm1a(KOMP)Wtsi> hom early,19.125,"HP:0001874,HP:0001744",MP:0005505
+2570,ORPHA:379,Chronic Granulomatous Disease,CYBA,Cyba<tm1a(EUCOMM)Wtsi> hom early,25.41,"HP:0100523,HP:0001874,HP:0001744","MP:0002599,MP:0000218"
+2571,ORPHA:379,Chronic Granulomatous Disease,NCF2,Ncf2<tm1a(EUCOMM)Wtsi> hom early,29.75,"HP:0100523,HP:0001874,HP:0001744","MP:0002599,MP:0008045,MP:0012767,MP:0005018,MP:0000221,MP:0012765,MP:0008040,MP:0004974"
+2572,ORPHA:379,Chronic Granulomatous Disease,CYBB,Cybb<tm2b(KOMP)Wtsi> hom early,41.885,"HP:0100523,HP:0100721,HP:0002240,HP:0001874,HP:0001744","MP:0004952,MP:0002591"
+2573,ORPHA:379,Chronic Granulomatous Disease,NCF1,Ncf1<em1(IMPC)Mbp> hom early,38.875,"HP:0100721,HP:0002240,HP:0001744","MP:0003068,MP:0002339,MP:0000702"
+2574,ORPHA:379,Chronic Granulomatous Disease,NCF1,Ncf1<em1(IMPC)Mbp> hom late,43.21,"HP:0002205,HP:0100523,HP:0100721,HP:0002240,HP:0001874,HP:0001744","MP:0001175,MP:0000691,MP:0000689"
+2575,ORPHA:389,Langerhans Cell Histiocytosis,NRAS,Nras<tm1b(EUCOMM)Hmgu> het early,16.425,HP:0003073,MP:0001556
+2576,ORPHA:39041,Omenn Syndrome,CHD7,Chd7<Whi> het early,30.215,HP:0001508,MP:0001262
+2577,ORPHA:39041,Omenn Syndrome,LIG4,Lig4<em1(IMPC)Ccpcz> het early,47.61,"HP:0001903,HP:0000100,HP:0004332,HP:0001744,HP:0002716,HP:0001974,HP:0002240,HP:0001880","MP:0003917,MP:0000703,MP:0000689,MP:0000709,MP:0000691"
+2578,ORPHA:391307,Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome,TTI2,Tti2<tm1b(KOMP)Wtsi> het early,48.295,"HP:0000718,HP:0000752,HP:0000737,HP:0001888","MP:0000219,MP:0005016,MP:0001417"
+2579,ORPHA:391372,Foxp1 Syndrome,FOXP1,Foxp1<tm1b(KOMP)Wtsi> het early,40.945,"HP:0025502,HP:0008762,HP:0007018,HP:0001508","MP:0001399,MP:0003960"
+2580,ORPHA:391408,Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome,TRMT10A,Trmt10a<tm1a(EUCOMM)Wtsi> hom early,33.615,"HP:0004325,HP:0001518,HP:0001382","MP:0001262,MP:0000062"
+2581,ORPHA:391411,Atypical Juvenile Parkinsonism,SYNJ1,Synj1<tm1b(EUCOMM)Wtsi> het early,49.615,"HP:0002322,HP:0002067,HP:0002066,HP:0001336,HP:0007164,HP:0002063,HP:0004305,HP:0007256,HP:0001332",MP:0000745
+2582,ORPHA:391487,Stat1-Related Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome,STAT1,Stat1<tm2b(EUCOMM)Wtsi> hom early,45.5,"HP:0001973,HP:0001433,HP:0001890,HP:0000938,HP:0010976,HP:0001888,HP:0040160,HP:0001873,HP:0001904","MP:0005011,MP:0000702,MP:0002591,MP:0000220,MP:0012362,MP:0000218,MP:0005562,MP:0010124,MP:0005013,MP:0005016,MP:0000219,MP:0002606"
+2583,ORPHA:391665,Homozygous Familial Hypercholesterolemia,PCSK9,Pcsk9<tm2b(EUCOMM)Hmgu> hom early,33.005,"HP:0003124,HP:0003077,HP:0003141","MP:0005179,MP:0011886,MP:0002968,MP:0008806,MP:0000186"
+2584,ORPHA:391665,Homozygous Familial Hypercholesterolemia,LDLR,Ldlr<tm1b(EUCOMM)Wtsi> hom early,41.19,"HP:0001138,HP:0003124,HP:0003077,HP:0003141","MP:0001556,MP:0008810,MP:0004738,MP:0005178,MP:0011897"
+2585,ORPHA:391665,Homozygous Familial Hypercholesterolemia,ABCG8,Abcg8<tm1b(KOMP)Wtsi> hom early,44.95,"HP:0000822,HP:0003124,HP:0005162,HP:0001681,HP:0004381,HP:0001397,HP:0001138,HP:0006693,HP:0003077,HP:0001658,HP:0003141,HP:0001645,HP:0001653,HP:0030148","MP:0002941,MP:0005627,MP:0005419,MP:0005343,MP:0005634,MP:0000598,MP:0010097,MP:0001552,MP:0000689,MP:0002968,MP:0005553,MP:0005599,MP:0005278,MP:0004151,MP:0003921,MP:0005178,MP:0000599,MP:0000691"
+2586,ORPHA:393,"46,Xx Testicular Difference Of Sex Development",NR0B1,Nr0b1<em2(IMPC)Wtsi> hem early,38.775,"HP:0000026,HP:0000147,HP:0000062,HP:0008734",MP:0002160
+2587,ORPHA:397590,Silver-Russell Syndrome Due To A Point Mutation,CDKN1C,Cdkn1c<tm1.1(KOMP)Vlcg> het embryo,28.73,HP:0001562,MP:0001785
+2588,ORPHA:397590,Silver-Russell Syndrome Due To A Point Mutation,CDKN1C,Cdkn1c<tm1.1(KOMP)Vlcg> hom embryo,28.73,HP:0001562,MP:0001785
+2589,ORPHA:397590,Silver-Russell Syndrome Due To A Point Mutation,PLAG1,Plag1<em1(IMPC)Hmgu> hom early,27.175,"HP:0001159,HP:0010442,HP:0100257,HP:0000369,HP:0000347,HP:0009237,HP:0004209","MP:0004738,MP:0002764"
+2590,ORPHA:397612,Macrocephaly-Developmental Delay Syndrome,KPTN,Kptn<tm1a(EUCOMM)Wtsi> hom early,24.14,"HP:0001433,HP:0001363","MP:0010124,MP:0002874,MP:0000063"
+2591,ORPHA:397709,Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome,SNX14,Snx14<em1(IMPC)H> het early,11.095,HP:0001433,MP:0002599
+2592,ORPHA:397715,Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy,CSPP1,Cspp1<em1(IMPC)J> hom early,17.895,"HP:0002558,HP:0008797","MP:0010124,MP:0002075"
+2593,ORPHA:397973,Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome,TBC1D2B,Tbc1d2b<tm1a(EUCOMM)Hmgu> hom early,17.78,HP:0001513,MP:0003960
+2594,ORPHA:399081,Klhl9-Related Early-Onset Distal Myopathy,KLHL9,Klhl9<em1(IMPC)J> hom early,21.18,HP:0006466,MP:0000063
+2595,ORPHA:399805,Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation,STAG3,Stag3<tm1e.1(KOMP)Wtsi> hom early,48.455,"HP:0011962,HP:0008734,HP:0000027,HP:0011961,HP:0008669,HP:0000837","MP:0001147,MP:0001926,MP:0001925"
+2596,ORPHA:399805,Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation,TERB1,Terb1<tm1b(KOMP)Mbp> het early,39.9,"HP:0011962,HP:0008734,HP:0000027,HP:0011961,HP:0008669,HP:0000837","MP:0000703,MP:0000709,MP:0001126"
+2597,ORPHA:399805,Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation,SYCE1,Syce1<tm1b(KOMP)Wtsi> hom early,37.625,"HP:0011962,HP:0011961,HP:0008669,HP:0000027","MP:0001925,MP:0001926"
+2598,ORPHA:399805,Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation,SPAG17,Spag17<tm1b(KOMP)Wtsi> hom early,41.965,"HP:0011962,HP:0011961,HP:0008669,HP:0000027",MP:0001925
+2599,ORPHA:399805,Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation,CATIP,Catip<tm1b(KOMP)Wtsi> hom early,41.965,"HP:0011962,HP:0011961,HP:0008669,HP:0000027",MP:0001925
+2600,ORPHA:399805,Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation,KLHL10,Klhl10<tm1b(KOMP)Wtsi> hom early,44.26,"HP:0011962,HP:0011961,HP:0008669,HP:0000027",MP:0001925
+2601,ORPHA:399805,Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation,C14orf39,4930447C04Rik<em1(IMPC)Bay> hom early,37.625,"HP:0011962,HP:0011961,HP:0008669,HP:0000027","MP:0001925,MP:0001926"
+2602,ORPHA:399805,Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation,DNAH10,Dnah10<em1(IMPC)Bay> hom early,44.26,"HP:0011962,HP:0011961,HP:0008669,HP:0000027",MP:0001925
+2603,ORPHA:399805,Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation,PNLDC1,Pnldc1<em1(IMPC)Bay> hom early,40.175,"HP:0011962,HP:0011961,HP:0008669,HP:0000027",MP:0001925
+2604,ORPHA:399805,Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation,CCDC34,Ccdc34<em1(IMPC)J> hom early,41.965,"HP:0011962,HP:0011961,HP:0008669,HP:0000027",MP:0001925
+2605,ORPHA:399805,Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation,FBXO43,Fbxo43<em1(IMPC)Marc> hom early,36.79,"HP:0011962,HP:0011961,HP:0008669,HP:0000027","MP:0001925,MP:0001926"
+2606,ORPHA:40,"Acromesomelic Dysplasia, Maroteaux Type",NPR2,Npr2<em1(IMPC)H> hom early,18.56,"HP:0006487,HP:0003086,HP:0001156","MP:0000550,MP:0000556"
+2607,ORPHA:401768,Proximal Myopathy With Extrapyramidal Signs,MICU1,Micu1<tm1bNarl> hom early,41.49,"HP:0001251,HP:0001288","MP:0001406,MP:0001392"
+2608,ORPHA:401777,Optic Atrophy-Intellectual Disability Syndrome,NR2F1,Nr2f1<tm1.1(KOMP)Mbp> het early,23.475,"HP:0000365,HP:0000411,HP:0000648,HP:0000609,HP:0011039","MP:0001289,MP:0004738"
+2609,ORPHA:401777,Optic Atrophy-Intellectual Disability Syndrome,NR2F1,Nr2f1<tm1.1(KOMP)Mbp> hom embryo,19.085,HP:0004322,MP:0003984
+2610,ORPHA:401780,Autosomal Recessive Spastic Paraplegia Type 61,ARL6IP1,Arl6ip1<tm1b(EUCOMM)Hmgu> hom early,62.285,"HP:0012407,HP:0001288",MP:0001406
+2611,ORPHA:401785,Autosomal Recessive Spastic Paraplegia Type 62,ERLIN1,Erlin1<em1(IMPC)Tcp> hom late,22.335,HP:0006380,MP:0000063
+2612,ORPHA:401810,Autosomal Recessive Spastic Paraplegia Type 64,ENTPD1,Entpd1<tm1a(EUCOMM)Wtsi> hom early,33.345,HP:0001257,MP:0000745
+2613,ORPHA:401830,Autosomal Recessive Spastic Paraplegia Type 69,RAB3GAP2,Rab3gap2<tm1b(KOMP)Wtsi> hom early,48.8,HP:0000518,MP:0001304
+2614,ORPHA:401911,Axin2-Related Attenuated Familial Adenomatous Polyposis,AXIN2,Axin2<tm1b(KOMP)Wtsi> hom embryo,18.09,"HP:0005227,HP:0200063,HP:0100743,HP:0003003",MP:0009908
+2615,ORPHA:404440,Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency,SETD5,Setd5<tm1a(EUCOMM)Wtsi> het early,38.035,"HP:0000219,HP:0000193,HP:0000294,HP:0002714,HP:0002553,HP:0000319,HP:0000369,HP:0000343,HP:0000431,HP:0000190,HP:0000347,HP:0002002,HP:0002808,HP:0002650,HP:0000175","MP:0000443,MP:0002075,MP:0002100,MP:0004609,MP:0004738,MP:0000455,MP:0005358"
+2616,ORPHA:404443,Tatton-Brown-Rahman Syndrome,DNMT3A,Dnmt3a<tm1b(KOMP)Wtsi> het early,33.235,"HP:0001513,HP:0001537,HP:0001250,HP:0000718","MP:0003961,MP:0000947,MP:0010024,MP:0001417"
+2617,ORPHA:404443,Tatton-Brown-Rahman Syndrome,DNMT3A,Dnmt3a<tm1b(KOMP)Wtsi> hom embryo,12.405,HP:0001537,MP:0001697
+2618,ORPHA:411511,Angelman Syndrome Due To A Point Mutation,UBE3A,Ube3a<em1(IMPC)Hmgu> het early,43.92,"HP:0100023,HP:0000748,HP:0002015,HP:0002141,HP:0100738,HP:0100703,HP:0002136,HP:0001251","MP:0001402,MP:0011940"
+2619,ORPHA:411511,Angelman Syndrome Due To A Point Mutation,UBE3A,Ube3a<em1(IMPC)Hmgu> hom early,45.875,"HP:0100023,HP:0000748,HP:0002015,HP:0002141,HP:0100738,HP:0100703,HP:0002136,HP:0001251","MP:0001402,MP:0001417,MP:0002757,MP:0011940,MP:0001399"
+2620,ORPHA:411515,Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13,UBE3A,Ube3a<em1(IMPC)Hmgu> het early,45.335,"HP:0000748,HP:0000752,HP:0002591,HP:0002136,HP:0001251","MP:0001402,MP:0011940"
+2621,ORPHA:411515,Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13,UBE3A,Ube3a<em1(IMPC)Hmgu> hom early,54.88,"HP:0000748,HP:0000752,HP:0002591,HP:0002136,HP:0001251,HP:0000736","MP:0001402,MP:0001417,MP:0002757,MP:0011940,MP:0001399"
+2622,ORPHA:411602,Hereditary Late-Onset Parkinson Disease,GIGYF2,Gigyf2<tm1b(EUCOMM)Wtsi> hom early,49.38,"HP:0002359,HP:0002322,HP:0002067,HP:0000713,HP:0002362,HP:0000726,HP:0001268,HP:0002304,HP:0000744,HP:0100710,HP:0002063,HP:0000716,HP:0002548,HP:0001300,HP:0000741,HP:0001332","MP:0000745,MP:0001392,MP:0001402,MP:0001417"
+2623,ORPHA:411602,Hereditary Late-Onset Parkinson Disease,SNCA,Snca<em1(IMPC)H> hom early,26.17,"HP:0002362,HP:0002304",MP:0001392
+2624,ORPHA:411602,Hereditary Late-Onset Parkinson Disease,SNCA,Snca<em1(IMPC)H> hom late,13.26,HP:0004926,MP:0003896
+2625,ORPHA:411602,Hereditary Late-Onset Parkinson Disease,VPS35,Vps35<em1(IMPC)H> het early,32.67,"HP:0002362,HP:0002304",MP:0001406
+2626,ORPHA:411602,Hereditary Late-Onset Parkinson Disease,GBA1,Gba1<em1(IMPC)H> het early,13.845,HP:0004926,MP:0010392
+2627,ORPHA:411602,Hereditary Late-Onset Parkinson Disease,EIF4G1,Eif4g1<em1(IMPC)Hmgu> het early,14.605,HP:0001824,MP:0003961
+2628,ORPHA:412,Dysbetalipoproteinemia,APOE,Apoe<tm1Unc> hom early,54.38,"HP:0003124,HP:0001114,HP:0000819,HP:0002155,HP:0003141,HP:0003233","MP:0002078,MP:0005419,MP:0000182,MP:0001552,MP:0005344,MP:0002968,MP:0005560,MP:0005178"
+2629,ORPHA:412069,Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome,AHDC1,Ahdc1<em1Xgs> het early,22.885,"HP:0002779,HP:0001382,HP:0001363,HP:0001508","MP:0010124,MP:0003961,MP:0000063"
+2630,ORPHA:415,Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome,SLC25A15,Slc25a15<tm1b(EUCOMM)Hmgu> het early,27.485,"HP:0003218,HP:0100543,HP:0001254,HP:0001289","MP:0002135,MP:0001417"
+2631,ORPHA:417,Neonatal Severe Primary Hyperparathyroidism,CASR,Casr<tm1b(KOMP)Mbp> het early,21.775,"HP:0002240,HP:0001744",MP:0001944
+2632,ORPHA:420741,Riddle Syndrome,RNF168,Rnf168<em1(IMPC)H> hom early,26.26,"HP:0006254,HP:0000524","MP:0002941,MP:0010090,MP:0001314,MP:0005287"
+2633,ORPHA:420741,Riddle Syndrome,RNF168,Rnf168<tm2b(EUCOMM)Hmgu> hom early,32.47,"HP:0001369,HP:0000524,HP:0006254,HP:0001824,HP:0008940","MP:0002941,MP:0000703,MP:0010090,MP:0004609,MP:0001566,MP:0011971,MP:0000689,MP:0001312,MP:0001262,MP:0000709,MP:0001307,MP:0005343"
+2634,ORPHA:423,Malignant Hyperthermia Of Anesthesia,CACNA1S,Cacna1s<tm1.1(KOMP)Vlcg> hom embryo,26.59,"HP:0004756,HP:0004755,HP:0012416,HP:0001722,HP:0006682","MP:0001575,MP:0001914"
+2635,ORPHA:423296,Spinocerebellar Ataxia Type 38,ELOVL5,Elovl5<em1(IMPC)Tcp> hom early,37.275,"HP:0001288,HP:0001337,HP:0002066","MP:0002757,MP:0001402,MP:0006243"
+2636,ORPHA:423461,Mucolipidosis Type Iii Alpha/Beta,GNPTAB,Gnptab<em1(IMPC)Mbp> het early,30.92,"HP:0001667,HP:0007957,HP:0012069,HP:0010471","MP:0001304,MP:0002135,MP:0003068"
+2637,ORPHA:423461,Mucolipidosis Type Iii Alpha/Beta,GNPTAB,Gnptab<em1(IMPC)Mbp> het late,28.835,"HP:0001667,HP:0012069,HP:0010471","MP:0002989,MP:0002135,MP:0009552,MP:0004832,MP:0000274,MP:0000691,MP:0000266"
+2638,ORPHA:423461,Mucolipidosis Type Iii Alpha/Beta,GNPTAB,Gnptab<em1(IMPC)Mbp> hom embryo,21.76,HP:0001537,"MP:0001711,MP:0003231,MP:0004258"
+2639,ORPHA:428,Autosomal Dominant Hypocalcemia,GNA11,Gna11<tm1a(EUCOMM)Wtsi> hom early,45.795,"HP:0002917,HP:0002901,HP:0004349,HP:0002356,HP:0002150,HP:0002905","MP:0000194,MP:0001488,MP:0002941,MP:0000198,MP:0000063,MP:0008805"
+2640,ORPHA:428,Autosomal Dominant Hypocalcemia,CASR,Casr<tm1b(KOMP)Mbp> het early,56.705,"HP:0002917,HP:0002901,HP:0002150,HP:0002905,HP:0000648","MP:0000194,MP:0001102,MP:0001566"
+2641,ORPHA:428,Autosomal Dominant Hypocalcemia,GNA11,Gna11<tm1b(EUCOMM)Wtsi> hom early,16.78,HP:0004349,MP:0004609
+2642,ORPHA:432,Normosmic Congenital Hypogonadotropic Hypogonadism,CHD7,Chd7<Whi> het early,28.25,HP:0003782,MP:0001262
+2643,ORPHA:432,Normosmic Congenital Hypogonadotropic Hypogonadism,FGFR1,Fgfr1<tm1.1(KOMP)Vlcg> hom embryo,15.33,HP:0000823,MP:0003984
+2644,ORPHA:432,Normosmic Congenital Hypogonadotropic Hypogonadism,NHLH2,Nhlh2<tm1b(KOMP)Mbp> hom early,63.91,"HP:0000054,HP:0000938,HP:0000027,HP:0000026,HP:0008724,HP:0003187,HP:0000786,HP:0000869,HP:0003782,HP:0008734,HP:0000013,HP:0000044,HP:0000939,HP:0030019,HP:0011961,HP:0000802,HP:0012385,HP:0000028,HP:0002761,HP:0000134","MP:0001146,MP:0002637,MP:0002059,MP:0003961,MP:0001120,MP:0003578,MP:0000063,MP:0001126,MP:0001925,MP:0010124,MP:0001926,MP:0003795,MP:0006415,MP:0010024,MP:0002631,MP:0003918,MP:0004727,MP:0003642"
+2645,ORPHA:432,Normosmic Congenital Hypogonadotropic Hypogonadism,KISS1R,Kiss1r<tm1.1(KOMP)Vlcg> hom early,64.31,"HP:0000054,HP:0000938,HP:0000027,HP:0000026,HP:0008724,HP:0003187,HP:0000786,HP:0000869,HP:0003782,HP:0008734,HP:0000013,HP:0000044,HP:0000939,HP:0030019,HP:0011961,HP:0000802,HP:0012385,HP:0000028,HP:0002761,HP:0000134","MP:0002135,MP:0003558,MP:0003961,MP:0001120,MP:0001126,MP:0001262,MP:0002631,MP:0010024,MP:0002989,MP:0002059,MP:0001925,MP:0001926,MP:0001146,MP:0003795,MP:0006415,MP:0003918,MP:0003642,MP:0004955,MP:0000063,MP:0010124,MP:0003578,MP:0004727"
+2646,ORPHA:432,Normosmic Congenital Hypogonadotropic Hypogonadism,WDR11,Wdr11<em1(IMPC)Mbp> het early,27.005,HP:0000716,MP:0001417
+2647,ORPHA:432,Normosmic Congenital Hypogonadotropic Hypogonadism,WDR11,Wdr11<em1(IMPC)Mbp> het late,16.195,HP:0000054,"MP:0003068,MP:0002135"
+2648,ORPHA:432,Normosmic Congenital Hypogonadotropic Hypogonadism,WDR11,Wdr11<em1(IMPC)Mbp> hom early,30.345,"HP:0000027,HP:0000134,HP:0030019,HP:0000026,HP:0011961,HP:0008724,HP:0000044,HP:0000802,HP:0000786,HP:0000869",MP:0001925
+2649,ORPHA:432,Normosmic Congenital Hypogonadotropic Hypogonadism,WDR11,Wdr11<em1(IMPC)Mbp> hom late,19.965,"HP:0008197,HP:0000823,HP:0040171,HP:0008734,HP:0000134,HP:0000026,HP:0008724,HP:0008187,HP:0003187,HP:0000044,HP:0000028",MP:0005313
+2650,ORPHA:432,Normosmic Congenital Hypogonadotropic Hypogonadism,NHLH2,Nhlh2<em1(IMPC)Mbp> hom early,46.615,"HP:0003782,HP:0000054,HP:0000938,HP:0000939,HP:0000027,HP:0000134,HP:0030019,HP:0000026,HP:0002761,HP:0008724,HP:0000044,HP:0011961,HP:0000802,HP:0012385,HP:0000786,HP:0000869","MP:0003961,MP:0000063,MP:0010124,MP:0001925,MP:0001926,MP:0000538"
+2651,ORPHA:432,Normosmic Congenital Hypogonadotropic Hypogonadism,TACR3,Tacr3<em1(IMPC)J> hom early,44.065,"HP:0000938,HP:0000939,HP:0000027,HP:0000134,HP:0030019,HP:0000026,HP:0002761,HP:0008724,HP:0000044,HP:0011961,HP:0000802,HP:0012385,HP:0000786,HP:0000869","MP:0010124,MP:0001926,MP:0010024,MP:0000063"
+2652,ORPHA:432,Normosmic Congenital Hypogonadotropic Hypogonadism,SPRY4,Spry4<tm1b(KOMP)Mbp> hom early,27.92,"HP:0012385,HP:0000716","MP:0001399,MP:0002544,MP:0002764,MP:0002110"
+2653,ORPHA:432,Normosmic Congenital Hypogonadotropic Hypogonadism,GNRH1,Gnrh1<em1(IMPC)Bay> hom early,33.095,"HP:0000027,HP:0000134,HP:0030019,HP:0000026,HP:0011961,HP:0008724,HP:0000044,HP:0000802,HP:0000786,HP:0000869","MP:0001925,MP:0001926"
+2654,ORPHA:434179,Orofaciodigital Syndrome Type 14,C2CD3,C2cd3<em1(IMPC)Tcp> het early,17.815,"HP:0000039,HP:0008689","MP:0011874,MP:0001120"
+2655,ORPHA:435628,Keppen-Lubinsky Syndrome,KCNJ6,Kcnj6<em1(IMPC)H> hom early,18.455,HP:0002179,MP:0001523
+2656,ORPHA:435651,Cidec-Related Familial Partial Lipodystrophy,CIDEC,Cidec<tm1b(EUCOMM)Wtsi> hom early,42.405,"HP:0009017,HP:0000831,HP:0002155,HP:0009125,HP:0003635","MP:0013279,MP:0005178,MP:0002966,MP:0010025"
+2657,ORPHA:435660,Lipe-Related Familial Partial Lipodystrophy,LIPE,Lipe<tm1b(KOMP)Wtsi> hom early,35.205,"HP:0000876,HP:0000831,HP:0030685,HP:0003292,HP:0000855,HP:0002240","MP:0002079,MP:0003917,MP:0001925"
+2658,ORPHA:435934,Cog2-Cdg,COG2,Cog2<tm1a(KOMP)Wtsi> het early,32.435,"HP:0011967,HP:0010837","MP:0005632,MP:0001554"
+2659,ORPHA:436182,Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome,NSMCE2,Nsmce2<em1(IMPC)Bay> het embryo,20.545,HP:0008890,MP:0003984
+2660,ORPHA:436182,Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome,NSMCE2,Nsmce2<em1(IMPC)Bay> hom embryo,19.485,HP:0008890,MP:0003984
+2661,ORPHA:436252,Combined Immunodeficiency-Enteropathy Spectrum,PI4KA,Pi4ka<tm1b(EUCOMM)Wtsi> het early,24.73,"HP:0001890,HP:0000778,HP:0005224,HP:0100592","MP:0000220,MP:0003131,MP:0002608"
+2662,ORPHA:436252,Combined Immunodeficiency-Enteropathy Spectrum,TTC7A,Ttc7<em1(IMPC)J> het early,29.825,"HP:0002293,HP:0002223,HP:0008404,HP:0001539,HP:0008070","MP:0002075,MP:0000367,MP:0010024"
+2663,ORPHA:438274,Gcgr-Related Hyperglucagonemia,GCGR,Gcgr<tm1.1(KOMP)Vlcg> hom early,36.29,"HP:0030688,HP:0012440,HP:0030404,HP:0001081,HP:0002894","MP:0002727,MP:0013278,MP:0002981,MP:0005292"
+2664,ORPHA:44,Neonatal Adrenoleukodystrophy,PEX3,Pex3<tm1a(EUCOMM)Wtsi> hom early,31.815,HP:0000518,"MP:0001312,MP:0005542"
+2665,ORPHA:44,Neonatal Adrenoleukodystrophy,PEX26,Pex26<tm1.1(KOMP)Vlcg> het early,15.505,HP:0001392,MP:0000691
+2666,ORPHA:44,Neonatal Adrenoleukodystrophy,PEX6,Pex6<em1(IMPC)Tcp> het early,36.725,"HP:0000648,HP:0000518,HP:0007703","MP:0001312,MP:0006243,MP:0001322"
+2667,ORPHA:44,Neonatal Adrenoleukodystrophy,PEX19,Pex19<em1(IMPC)Bay> het early,30.265,HP:0000518,"MP:0011962,MP:0011959"
+2668,ORPHA:44,Neonatal Adrenoleukodystrophy,PEX1,Pex1<tm1e.1(EUCOMM)Hmgu> het early,35.925,HP:0001392,MP:0000598
+2669,ORPHA:440354,Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome,COL11A1,Col11a1<em1(IMPC)Bay> hom embryo,51.25,"HP:0000162,HP:0008905,HP:0000947,HP:0003016,HP:0002983,HP:0002980,HP:0003097,HP:0000175,HP:0001156","MP:0002109,MP:0009908,MP:0000111"
+2670,ORPHA:440437,Familial Colorectal Cancer Type X,CHEK2,Chek2<tm1b(EUCOMM)Hmgu> hom early,15.71,HP:0012113,MP:0005633
+2671,ORPHA:440437,Familial Colorectal Cancer Type X,RPS20,Rps20<em1(IMPC)Bay> het early,31.27,"HP:0002354,HP:0000737,HP:0007018,HP:0000716",MP:0001417
+2672,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,PPP3CA,Ppp3ca<tm2e(EUCOMM)Wtsi> hom early,24.22,HP:0001508,MP:0001260
+2673,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,GRIN2D,Grin2d<tm1a(EUCOMM)Wtsi> hom early,27.99,HP:0001337,MP:0001488
+2674,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,PACS2,Pacs2<tm1a(EUCOMM)Hmgu> hom early,27.915,HP:0001337,MP:0001488
+2675,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,CACNA1B,Cacna1b<tm1b(KOMP)Wtsi> hom early,46.07,"HP:0007018,HP:0001268,HP:0100710,HP:0002317,HP:0001251,HP:0001288","MP:0001406,MP:0001364,MP:0001415,MP:0020870,MP:0001392,MP:0001399"
+2676,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,DHDDS,Dhdds<tm1b(KOMP)Wtsi> het early,52.365,"HP:0011443,HP:0007018,HP:0000546,HP:0001337,HP:0002509,HP:0001336,HP:0100710,HP:0002063,HP:0004305,HP:0001257,HP:0000648,HP:0001251","MP:0000745,MP:0011965,MP:0002797"
+2677,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,FGF12,Fgf12<tm1b(KOMP)Wtsi> hom early,27.57,"HP:0100710,HP:0007018",MP:0020870
+2678,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,SYNJ1,Synj1<tm1b(EUCOMM)Wtsi> het early,48.93,"HP:0011443,HP:0000546,HP:0001337,HP:0002509,HP:0001336,HP:0002063,HP:0004305,HP:0001257,HP:0000648,HP:0001251","MP:0000745,MP:0001289"
+2679,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,NTRK2,Ntrk2<tm1b(EUCOMM)Wtsi> het early,16.78,HP:0001508,MP:0003960
+2680,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,ATP1A3,Atp1a3<tm1b(EUCOMM)Hmgu> het early,44.625,"HP:0007018,HP:0001268,HP:0100710,HP:0002317,HP:0001251,HP:0001288","MP:0001392,MP:0001364,MP:0001399,MP:0001415"
+2681,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,KCNB1,Kcnb1<tm1b(EUCOMM)Hmgu> hom early,45.95,"HP:0007018,HP:0001268,HP:0100710,HP:0001508,HP:0002317,HP:0001251,HP:0001288","MP:0001406,MP:0003960,MP:0001415,MP:0001392,MP:0001399"
+2682,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,DALRD3,Dalrd3<em1(IMPC)J> hom early,27.635,"HP:0100710,HP:0007018",MP:0020870
+2683,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,CNKSR2,Cnksr2<em1(IMPC)J> hom early,29.87,"HP:0100710,HP:0001268,HP:0007018",MP:0001415
+2684,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,GABRA2,Gabra2<em1(IMPC)H> hom early,45.385,"HP:0007018,HP:0001268,HP:0100710,HP:0001337,HP:0002317,HP:0001251,HP:0001288","MP:0001402,MP:0001417,MP:0002797,MP:0001363,MP:0001513,MP:0001399"
+2685,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,GABRA2,Gabra2<em1(IMPC)H> hom late,36.19,"HP:0007018,HP:0001268,HP:0100710,HP:0001337,HP:0001508,HP:0002317,HP:0001251,HP:0001288","MP:0003960,MP:0001513,MP:0001402,MP:0001417"
+2686,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,GABRA2,Gabra2<em1(IMPC)H> hom middle,28.9,HP:0001337,MP:0001513
+2687,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,HCN1,Hcn1<em1(IMPC)H> hom early,56.9,"HP:0011443,HP:0010844,HP:0007018,HP:0001337,HP:0002509,HP:0001336,HP:0001268,HP:0002317,HP:0100710,HP:0002521,HP:0002063,HP:0004305,HP:0001257,HP:0000648,HP:0001251,HP:0001288","MP:0000745,MP:0001406,MP:0001402,MP:0001417,MP:0004738,MP:0001392"
+2688,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,CACNA1A,Cacna1a<em1(IMPC)H> het early,28.32,"HP:0100710,HP:0007018",MP:0020421
+2689,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,CACNA2D1,Cacna2d1<em1(IMPC)Mbp> hom early,36.38,"HP:0007018,HP:0001337,HP:0100710,HP:0001268,HP:0002317,HP:0001251,HP:0001288","MP:0001489,MP:0020421,MP:0001402,MP:0001417,MP:0009453,MP:0020420"
+2690,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,ACTL6B,Actl6b<em1(IMPC)J> het early,28.76,"HP:0000648,HP:0010844,HP:0002521",MP:0004738
+2691,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,GABRG2,Gabrg2<em1(IMPC)Mbp> het early,39.585,"HP:0000648,HP:0000546","MP:0001289,MP:0001325"
+2692,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,FBXO28,Fbxo28<em1(IMPC)Mhzh> het early,27.39,"HP:0100710,HP:0007018",MP:0020870
+2693,ORPHA:442835,Non-Specific Early-Onset Epileptic Encephalopathy,AARS1,Aars1<em1(IMPC)Bay> het early,16.78,HP:0001508,MP:0003960
+2694,ORPHA:443167,Nut Midline Carcinoma,NUTM1,Nutm1<tm1b(KOMP)Wtsi> hom early,16.91,HP:0001909,"MP:0010067,MP:0005561"
+2695,ORPHA:444,Marie Unna Hereditary Hypotrichosis,HR,Hr<em1(IMPC)H> hom early,29.23,"HP:0002209,HP:0100840,HP:0001596,HP:0002208,HP:0200102","MP:0002098,MP:0000367,MP:0001284"
+2696,ORPHA:444077,Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome,AFF4,Aff4<em1(IMPC)Mbp> het early,32.645,"HP:0000076,HP:0003468,HP:0004602,HP:0000085,HP:0000047","MP:0002989,MP:0002135,MP:0002759"
+2697,ORPHA:444077,Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome,AFF4,Aff4<em1(IMPC)Mbp> hom embryo,16.125,HP:0004322,MP:0003984
+2698,ORPHA:44890,Gastrointestinal Stromal Tumor,SDHC,Sdhc<tm1a(EUCOMM)Wtsi> het early,20.045,HP:0001903,MP:0005505
+2699,ORPHA:44890,Gastrointestinal Stromal Tumor,SDHA,Sdha<tm2b(KOMP)Wtsi> het early,18.32,HP:0002015,MP:0020870
+2700,ORPHA:44890,Gastrointestinal Stromal Tumor,SDHB,Sdhb<tm1b(EUCOMM)Hmgu> het early,29.53,HP:0001903,"MP:0000222,MP:0005642"
+2701,ORPHA:44890,Gastrointestinal Stromal Tumor,PDGFRA,Pdgfra<em1(IMPC)Ccpcz> het early,16.095,HP:0001903,"MP:0013435,MP:0013520,MP:0008039,MP:0000703,MP:0013523,MP:0000709"
+2702,ORPHA:454840,Nthl1-Related Attenuated Familial Adenomatous Polyposis,NTHL1,Nthl1<em1(IMPC)Mbp> hom early,15.135,HP:0006725,"MP:0000601,MP:0000598"
+2703,ORPHA:457,Harlequin Ichthyosis,ABCA12,Abca12<em1(IMPC)J> hom embryo,32.375,HP:0001944,MP:0001785
+2704,ORPHA:457050,Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance,CHCHD10,Chchd10<em1(IMPC)Mbp> hom early,23.605,HP:0008180,MP:0001566
+2705,ORPHA:457050,Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance,CHCHD10,Chchd10<em1(IMPC)H> hom early,29.47,HP:0008180,"MP:0005627,MP:0005565,MP:0005553"
+2706,ORPHA:457359,Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome,HERC1,Herc1<em3(IMPC)Wtsi> hom early,36.69,"HP:0001533,HP:0001520,HP:0000358,HP:0001998,HP:0001382,HP:0000400,HP:0001376","MP:0002079,MP:0003961,MP:0000063,MP:0004738,MP:0005560,MP:0013279,MP:0005293"
+2707,ORPHA:458798,Spinocerebellar Ataxia Type 41,TRPC3,Trpc3<Mwk> het early,44.67,HP:0002066,"MP:0001406,MP:0003313"
+2708,ORPHA:458803,Spinocerebellar Ataxia Type 42,CACNA1G,Cacna1g<em1(IMPC)Mbp> hom early,30.755,"HP:0000012,HP:0000020,HP:0000716","MP:0003068,MP:0002135,MP:0001415"
+2709,ORPHA:459056,Autosomal Recessive Spastic Paraplegia Type 75,MAG,Mag<tm1.1(KOMP)Vlcg> hom early,30.485,"HP:0030187,HP:0012511,HP:0001310","MP:0001489,MP:0001402,MP:0004738"
+2710,ORPHA:464288,Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome,PRMT7,Prmt7<tm1a(EUCOMM)Wtsi> hom early,16.93,HP:0001513,MP:0003961
+2711,ORPHA:464738,Basel-Vanagaite-Smirin-Yosef Syndrome,MED25,Med25<tm1b(KOMP)Wtsi> het early,30.94,"HP:0000718,HP:0001845,HP:0001761,HP:0001288,HP:0002540,HP:0009471,HP:0001181,HP:0000369,HP:0004691,HP:0006101,HP:0009468,HP:0030084,HP:0000023,HP:0010557,HP:0010186","MP:0002764,MP:0001402,MP:0001417,MP:0004738,MP:0010024"
+2712,ORPHA:465508,Symptomatic Form Of Hfe-Related Hemochromatosis,BMP6,Bmp6<em1(IMPC)Ccpcz> hom early,49.355,"HP:0011031,HP:0030848,HP:0001394,HP:0001635,HP:0001409,HP:0011675,HP:0001402,HP:0012463,HP:0001638,HP:0002240,HP:0003281,HP:0001744,HP:0000741,HP:0001824,HP:0030153,HP:0001254,HP:0000029","MP:0002590,MP:0001944,MP:0002941,MP:0001402,MP:0005561,MP:0008810,MP:0005564,MP:0001363,MP:0001262,MP:0005641,MP:0005333,MP:0005343,MP:0000613"
+2713,ORPHA:466650,Exercise-Induced Malignant Hyperthermia,RYR1,Ryr1<tm1b(EUCOMM)Hmgu> het early,9.645,HP:0001873,MP:0004952
+2714,ORPHA:466791,Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome,NONO,Nono<em1(IMPC)Bay> hem early,19.955,HP:0000718,MP:0001417
+2715,ORPHA:466791,Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome,NONO,Nono<em1(IMPC)Bay> hom early,19.955,HP:0000718,MP:0001417
+2716,ORPHA:468631,Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency,RTTN,Rttn<em1(IMPC)Tcp> het late,26.71,"HP:0030260,HP:0001363,HP:0002247,HP:0000047,HP:0000122,HP:0000125","MP:0010124,MP:0011874,MP:0000470"
+2717,ORPHA:468631,Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency,RTTN,Rttn<em1(IMPC)Tcp> hom embryo,29.435,"HP:0003510,HP:0001511","MP:0003984,MP:0001697"
+2718,ORPHA:468699,Slc39A8-Cdg,SLC39A8,Slc39a8<tm1b(EUCOMM)Wtsi> het early,16.68,"HP:0008277,HP:0032098",MP:0001552
+2719,ORPHA:468726,Severe Primary Trimethylaminuria,FMO3,Fmo3<em1(IMPC)Mbp> hom early,55.23,"HP:0000718,HP:0008770,HP:0000716,HP:0000712,HP:0031467",MP:0001399
+2720,ORPHA:468726,Severe Primary Trimethylaminuria,FMO3,Fmo3<em1(IMPC)Mbp> hom late,13.69,HP:0003614,MP:0002135
+2721,ORPHA:47,X-Linked Agammaglobulinemia,BTK,Btk<tm1a(EUCOMM)Hmgu> hem early,36.815,"HP:0100838,HP:0001875,HP:0001903,HP:0001873","MP:0002875,MP:0008078,MP:0008074,MP:0008211"
+2722,ORPHA:470,Lysinuric Protein Intolerance,SLC7A7,Slc7a7<em1(IMPC)Bay> het early,13.85,HP:0001508,MP:0003960
+2723,ORPHA:470,Lysinuric Protein Intolerance,SLC7A7,Slc7a7<em1(IMPC)Bay> hom embryo,15.605,HP:0001510,MP:0003984
+2724,ORPHA:474,Jeune Syndrome,IFT80,Ift80<tm1a(KOMP)Wtsi> het early,43.355,"HP:0010579,HP:0001773,HP:0000944,HP:0002983,HP:0001830,HP:0002644,HP:0001770,HP:0001156,HP:0001162","MP:0005108,MP:0000552"
+2725,ORPHA:474,Jeune Syndrome,IFT80,Ift80<tm1a(KOMP)Wtsi> hom early,50.435,"HP:0010579,HP:0001773,HP:0000944,HP:0001830,HP:0002644,HP:0001770,HP:0001156,HP:0001162",MP:0004509
+2726,ORPHA:474,Jeune Syndrome,IFT172,Ift172<tm2b(EUCOMM)Hmgu> het early,45.895,"HP:0010579,HP:0001773,HP:0000944,HP:0007703,HP:0002983,HP:0001830,HP:0002644,HP:0001770,HP:0001156,HP:0001162","MP:0010097,MP:0002110"
+2727,ORPHA:474,Jeune Syndrome,IFT172,Ift172<tm2b(EUCOMM)Hmgu> hom embryo,19.42,HP:0004322,MP:0003984
+2728,ORPHA:474,Jeune Syndrome,DYNC2I1,Dync2i1<em1(IMPC)Tcp> het early,18.34,"HP:0000083,HP:0000090,HP:0000112",MP:0011874
+2729,ORPHA:474,Jeune Syndrome,DYNC2I1,Dync2i1<em1(IMPC)Tcp> hom embryo,19.72,HP:0004322,MP:0003984
+2730,ORPHA:475,Joubert Syndrome,B9D1,B9d1<tm1a(EUCOMM)Wtsi> het early,27.895,HP:0001337,"MP:0001486,MP:0005316"
+2731,ORPHA:475,Joubert Syndrome,MKS1,Mks1<tm1a(EUCOMM)Wtsi> het early,10.55,HP:0002553,MP:0000579
+2732,ORPHA:475,Joubert Syndrome,PIBF1,Pibf1<tm1.1(KOMP)Vlcg> het early,19.315,HP:0001696,MP:0002833
+2733,ORPHA:475,Joubert Syndrome,PIBF1,Pibf1<tm1.1(KOMP)Vlcg> hom embryo,34.055,"HP:0000238,HP:0001696,HP:0002084","MP:0003720,MP:0003984,MP:0002151,MP:0001700,MP:0000269,MP:0001697,MP:0000266"
+2734,ORPHA:475,Joubert Syndrome,INPP5E,Inpp5e<tm1.1(KOMP)Vlcg> hom embryo,41.99,"HP:0001829,HP:0001161,HP:0002084,HP:0000238,HP:0001320","MP:0002109,MP:0003720,MP:0000562,MP:0000841,MP:0001697"
+2735,ORPHA:475,Joubert Syndrome,SUFU,Sufu<tm1b(KOMP)Wtsi> het early,27.625,"HP:0001337,HP:0002251","MP:0000470,MP:0001488"
+2736,ORPHA:475,Joubert Syndrome,SUFU,Sufu<tm1b(KOMP)Wtsi> hom embryo,36.815,"HP:0000238,HP:0001829,HP:0001161,HP:0002084","MP:0003232,MP:0003720,MP:0003984,MP:0006108,MP:0001722,MP:0005650,MP:0001697,MP:0004258,MP:0003864"
+2737,ORPHA:475,Joubert Syndrome,IFT74,Ift74<tm1b(EUCOMM)Hmgu> hom early,27.84,HP:0001337,"MP:0001513,MP:0001488"
+2738,ORPHA:475,Joubert Syndrome,TCTN3,Tctn3<em1(IMPC)J> het late,23.975,HP:0000612,MP:0001303
+2739,ORPHA:475,Joubert Syndrome,TCTN3,Tctn3<em1(IMPC)J> hom embryo,39.055,"HP:0001829,HP:0001161,HP:0002084","MP:0000562,MP:0001697"
+2740,ORPHA:475,Joubert Syndrome,CSPP1,Cspp1<em1(IMPC)J> hom early,17.805,HP:0002553,MP:0002075
+2741,ORPHA:475,Joubert Syndrome,TMEM237,Tmem237<tm1b(EUCOMM)Hmgu> het early,24.195,"HP:0001829,HP:0002553,HP:0001161,HP:0001696,HP:0000864","MP:0000639,MP:0002768,MP:0001147,MP:0004357,MP:0000274,MP:0000627,MP:0000266"
+2742,ORPHA:475,Joubert Syndrome,KATNIP,Katnip<em1(IMPC)Mbp> het early,28.88,"HP:0000864,HP:0000612,HP:0001251,HP:0001288","MP:0001304,MP:0000639,MP:0001402"
+2743,ORPHA:475,Joubert Syndrome,TCTN1,Tctn1<em1(IMPC)Mbp> het embryo,28.595,"HP:0000238,HP:0002084",MP:0003054
+2744,ORPHA:475,Joubert Syndrome,TCTN1,Tctn1<em1(IMPC)Mbp> hom embryo,28.595,"HP:0000238,HP:0002084",MP:0003054
+2745,ORPHA:475,Joubert Syndrome,HYLS1,Hyls1<em1(IMPC)Tcp> het early,20.605,"HP:0001829,HP:0001161",MP:0004357
+2746,ORPHA:475,Joubert Syndrome,HYLS1,Hyls1<em1(IMPC)Tcp> hom embryo,20.775,"HP:0001696,HP:0002084","MP:0003984,MP:0001697,MP:0001700,MP:0000269"
+2747,ORPHA:475,Joubert Syndrome,TOGARAM1,Togaram1<em1(IMPC)J> hom embryo,40.465,"HP:0001829,HP:0001161,HP:0000202,HP:0002084","MP:0000562,MP:0008797,MP:0005650"
+2748,ORPHA:477774,Combined Oxidative Phosphorylation Defect Type 27,CARS2,Cars2<em1(IMPC)Bay> het early,28.74,HP:0007351,MP:0001513
+2749,ORPHA:477993,Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome,KDM1A,Kdm1a<tm1(NCOM)Mfgc> het early,19.085,"HP:0000041,HP:0000047,HP:0001655","MP:0002989,MP:0002188"
+2750,ORPHA:478,Kallmann Syndrome,CHD7,Chd7<Whi> het early,27.38,"HP:0001513,HP:0001251,HP:0001288","MP:0003313,MP:0001262"
+2751,ORPHA:478,Kallmann Syndrome,FGFR1,Fgfr1<tm1.1(KOMP)Vlcg> hom embryo,15.24,HP:0000823,MP:0003984
+2752,ORPHA:478,Kallmann Syndrome,CCDC141,Ccdc141<tm1.1(KOMP)Wtsi> hom early,25.32,"HP:0001251,HP:0001288",MP:0001402
+2753,ORPHA:478,Kallmann Syndrome,WDR11,Wdr11<em1(IMPC)Mbp> het late,23.36,"HP:0008736,HP:0000054,HP:0000104","MP:0003068,MP:0002135"
+2754,ORPHA:478,Kallmann Syndrome,WDR11,Wdr11<em1(IMPC)Mbp> hom early,30.51,"HP:0000144,HP:0030016,HP:0100639,HP:0000044,HP:0000786",MP:0001925
+2755,ORPHA:478,Kallmann Syndrome,WDR11,Wdr11<em1(IMPC)Mbp> hom late,20.055,"HP:0000823,HP:0003164,HP:0008734,HP:0000830,HP:0003187,HP:0000044,HP:0000028",MP:0005313
+2756,ORPHA:478,Kallmann Syndrome,TACR3,Tacr3<em1(IMPC)J> hom early,39.91,"HP:0000144,HP:0004349,HP:0030016,HP:0100639,HP:0000044,HP:0002757,HP:0000786","MP:0010124,MP:0001926,MP:0000063"
+2757,ORPHA:478,Kallmann Syndrome,HESX1,Hesx1<em1(IMPC)J> hom embryo,37.715,"HP:0000175,HP:0009804","MP:0000111,MP:0008797"
+2758,ORPHA:478,Kallmann Syndrome,SPRY4,Spry4<tm1b(KOMP)Mbp> hom early,11.48,"HP:0001763,HP:0001761",MP:0002764
+2759,ORPHA:480536,Msh3-Related Attenuated Familial Adenomatous Polyposis,MSH3,Msh3<em1(IMPC)Mbp> hom early,29.95,HP:0000107,"MP:0003068,MP:0002135"
+2760,ORPHA:481152,Pycr2-Related Microcephaly-Progressive Leukoencephalopathy,PYCR2,Pycr2<tm1a(EUCOMM)Wtsi> hom early,20.115,"HP:0001371,HP:0001382,HP:0005072",MP:0000063
+2761,ORPHA:485,Kniest Dysplasia,COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,29.745,"HP:0002949,HP:0004557,HP:0000470,HP:0008422,HP:0000926,HP:0003417,HP:0010646,HP:0003311",MP:0000160
+2762,ORPHA:485,Kniest Dysplasia,COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,39.975,"HP:0012785,HP:0000947,HP:0003016,HP:0000201,HP:0006375,HP:0003051,HP:0000175,HP:0010574","MP:0002109,MP:0009908,MP:0000111"
+2763,ORPHA:487796,Takenouchi-Kosaki Syndrome,CDC42,Cdc42<tm1b(EUCOMM)Hmgu> het early,29.65,"HP:0011877,HP:0000047,HP:0000126,HP:0000122,HP:0000648,HP:0001873","MP:0003068,MP:0010067,MP:0002874,MP:0000218,MP:0001325,MP:0005013,MP:0005642,MP:0000219"
+2764,ORPHA:487825,Pierpont Syndrome,TBL1XR1,Tbl1xr1<tm1b(EUCOMM)Hmgu> het early,23.65,"HP:0009909,HP:0000358,HP:0000365,HP:0000400,HP:0009890","MP:0004738,MP:0001284"
+2765,ORPHA:487825,Pierpont Syndrome,TBL1XR1,Tbl1xr1<tm1b(EUCOMM)Hmgu> het late,25.185,HP:0000028,MP:0004832
+2766,ORPHA:48818,Aceruloplasminemia,CP,Cp<tm1b(KOMP)Wtsi> hom early,43.55,"HP:0005505,HP:0040303,HP:0025498,HP:0003281,HP:0012465,HP:0011967,HP:0010837,HP:0004840","MP:0002591,MP:0002874,MP:0005562,MP:0005642,MP:0004151"
+2767,ORPHA:488613,Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome,GNB1,Gnb1<em1(IMPC)Bay> het early,22.225,HP:0002540,MP:0002574
+2768,ORPHA:488613,Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome,GNB1,Gnb1<em1(IMPC)Bay> hom embryo,28.19,HP:0000175,MP:0008797
+2769,ORPHA:488635,Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome,PIGG,Pigg<em1(IMPC)Bay> hom early,41.075,"HP:0002141,HP:0002066",MP:0001406
+2770,ORPHA:488642,Telo2-Related Intellectual Disability-Neurodevelopmental Disorder,TELO2,Telo2<em1(IMPC)J> het early,12.3,"HP:0006380,HP:0003273",MP:0010024
+2771,ORPHA:494526,Infantile-Onset Generalized Dyskinesia With Orofacial Involvement,PDE10A,Pde10a<em1(IMPC)H> hom early,33.32,HP:0002317,MP:0001402
+2772,ORPHA:495818,9Q33.3Q34.11 Microdeletion Syndrome,STXBP1,Stxbp1<tm1b(EUCOMM)Hmgu> het early,19.065,HP:0002015,"MP:0002797,MP:0001399"
+2773,ORPHA:495818,9Q33.3Q34.11 Microdeletion Syndrome,STXBP1,Stxbp1<tm1b(EUCOMM)Hmgu> hom embryo,26.155,"HP:0000421,HP:0001009",MP:0001914
+2774,ORPHA:496689,Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome,KY,Ky<em1(IMPC)J> hom early,46.89,"HP:0002061,HP:0007020,HP:0030051,HP:0003487","MP:0000745,MP:0001406"
+2775,ORPHA:500095,Tall Stature-Intellectual Disability-Renal Anomalies Syndrome,FIBP,Fibp<tm1e(EUCOMM)Wtsi> het early,18.55,"HP:0410255,HP:0410252","MP:0002875,MP:0005561"
+2776,ORPHA:500159,Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom,RAC1,Rac1<em1(IMPC)Mbp> het early,38.86,"HP:0000047,HP:0000819,HP:0000028,HP:0000733","MP:0002989,MP:0001146,MP:0001399,MP:0001147"
+2777,ORPHA:500533,Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome,STRADA,Strada<em1(IMPC)Bay> hom embryo,28.145,"HP:0010804,HP:0000154,HP:0000194","MP:0000111,MP:0009908"
+2778,ORPHA:500545,Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract,NACC1,Nacc1<em1(IMPC)Hmgu> hom early,29.44,HP:0002521,MP:0004738
+2779,ORPHA:502423,Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome,MSTO1,Msto1<em1(IMPC)Tcp> het early,17.795,"HP:0000870,HP:0008180","MP:0002059,MP:0001552"
+2780,ORPHA:502434,Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome,STAG1,Stag1<em1(IMPC)Mbp> het early,34.395,"HP:0000050,HP:0000028,HP:0000085","MP:0003068,MP:0002997,MP:0000538"
+2781,ORPHA:502434,Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome,STAG1,Stag1<em1(IMPC)Mbp> het late,23.355,HP:0000085,"MP:0002989,MP:0002135,MP:0000538"
+2782,ORPHA:502434,Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome,STAG1,Stag1<em1(IMPC)Mbp> hom embryo,33.815,"HP:0004322,HP:0001511",MP:0003984
+2783,ORPHA:503,Larsen Syndrome,FLNB,Flnb<tm1b(KOMP)Wtsi> het early,22.11,"HP:0008755,HP:0001382,HP:0001363","MP:0010124,MP:0000063"
+2784,ORPHA:505216,3-Methylglutaconic Aciduria Type 9,TIMM50,Timm50<tm1b(EUCOMM)Wtsi> het early,29.335,"HP:0001533,HP:0000648,HP:0001508","MP:0003731,MP:0003960,MP:0011965"
+2785,ORPHA:505248,Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders,VPS33A,Vps33a<em2(IMPC)Tcp> het early,37.025,"HP:0001631,HP:0001903,HP:0000105,HP:0001433,HP:0001639,HP:0001627,HP:0005528,HP:0001655,HP:0001873,HP:0001882","MP:0010067,MP:0004952,MP:0002833,MP:0005016,MP:0000219"
+2786,ORPHA:505248,Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders,VPS33A,Vps33a<em2(IMPC)Tcp> het late,48.18,"HP:0001433,HP:0000105,HP:0003541,HP:0002159,HP:0000093,HP:0000100,HP:0012597","MP:0003068,MP:0011874"
+2787,ORPHA:508093,Mepan Syndrome,MECR,Mecr<tm1a(EUCOMM)Wtsi> het early,44.65,"HP:0002451,HP:0001332,HP:0012179,HP:0002530,HP:0001251,HP:0032005,HP:0001288","MP:0001406,MP:0005316"
+2788,ORPHA:50814,Craniolenticulosutural Dysplasia,SEC23A,Sec23a<tm1a(KOMP)Wtsi> het early,26.095,"HP:0004331,HP:0001382",MP:0000062
+2789,ORPHA:508488,8Q24.3 Microdeletion Syndrome,PUF60,Puf60<em1(IMPC)Bay> het early,27.335,"HP:0000480,HP:0000609",MP:0003731
+2790,ORPHA:508498,Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome,PUF60,Puf60<em1(IMPC)Bay> het early,29.365,"HP:0000480,HP:0000609,HP:0012795",MP:0003731
+2791,ORPHA:508533,Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome,EXTL3,Extl3<em1(IMPC)Mbp> het late,39.725,"HP:0000085,HP:0032061,HP:0001888,HP:0005407,HP:0005403,HP:0005415,HP:0002240","MP:0002989,MP:0002135,MP:0000598,MP:0000689,MP:0000599,MP:0000691"
+2792,ORPHA:508542,Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome,MYSM1,Mysm1<tm1a(KOMP)Wtsi> het early,31.89,"HP:0001903,HP:0001896,HP:0010976,HP:0001888,HP:0001875,HP:0001873,HP:0001882",MP:0002590
+2793,ORPHA:508542,Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome,MYSM1,Mysm1<tm1a(KOMP)Wtsi> hom early,49.035,"HP:0005792,HP:0004991,HP:0001903,HP:0012817,HP:0010049,HP:0001896,HP:0010976,HP:0001888,HP:0005528,HP:0012490,HP:0000765,HP:0001875,HP:0000916,HP:0001156,HP:0001873,HP:0001882","MP:0000556,MP:0005564,MP:0010024,MP:0005641,MP:0002590,MP:0005015,MP:0005505,MP:0000572,MP:0004509,MP:0000221,MP:0005017,MP:0008211,MP:0000208,MP:0002492,MP:0002875,MP:0008074,MP:0002833,MP:0008501,MP:0002874,MP:0008502,MP:0000150,MP:0000322"
+2794,ORPHA:50944,Schöpf-Schulz-Passarge Syndrome,WNT10A,Wnt10a<tm1.1(KOMP)Vlcg> hom early,39.22,"HP:0000982,HP:0100840,HP:0008070,HP:0001596","MP:0002075,MP:0000367,MP:0002764"
+2795,ORPHA:50945,Blomstrand Lethal Chondrodysplasia,PTH1R,Pth1r<tm1a(EUCOMM)Hmgu> het early,24.92,HP:0011001,MP:0010124
+2796,ORPHA:51,Aicardi-Goutières Syndrome,ADAR,Adar<tm1b(EUCOMM)Wtsi> het early,24.2,HP:0000819,MP:0005560
+2797,ORPHA:51,Aicardi-Goutières Syndrome,ADAR,Adar<tm1b(EUCOMM)Wtsi> hom embryo,29.92,HP:0000958,MP:0003717
+2798,ORPHA:51,Aicardi-Goutières Syndrome,RNASEH2A,Rnaseh2a<em1(IMPC)Tcp> het early,36.13,"HP:0000054,HP:0001433,HP:0001337,HP:0004809,HP:0001640,HP:0006579,HP:0005550,HP:0001332","MP:0002599,MP:0001488,MP:0000220,MP:0002591,MP:0005505,MP:0004952,MP:0005562,MP:0001126"
+2799,ORPHA:51,Aicardi-Goutières Syndrome,TREX1,Trex1<em1(IMPC)Ccpcz> het early,43.74,"HP:0000054,HP:0001433,HP:0001639,HP:0004809,HP:0001640,HP:0001087,HP:0006579,HP:0005550","MP:0001146,MP:0002135,MP:0003068,MP:0002059,MP:0002997,MP:0000689,MP:0001148,MP:0001303,MP:0002631,MP:0004931,MP:0000274,MP:0000691,MP:0000266"
+2800,ORPHA:51,Aicardi-Goutières Syndrome,TREX1,Trex1<em1(IMPC)Ccpcz> hom early,49.815,"HP:0000054,HP:0001433,HP:0000819,HP:0001639,HP:0002828,HP:0100578,HP:0002910,HP:0012490,HP:0004809,HP:0001640,HP:0002650,HP:0006579,HP:0005550","MP:0002599,MP:0010067,MP:0003179,MP:0004952,MP:0000598,MP:0004174,MP:0000709,MP:0000691,MP:0000703,MP:0000160,MP:0000274,MP:0000266,MP:0003917,MP:0008045,MP:0000161,MP:0002833,MP:0010025,MP:0000219,MP:0005292,MP:0000220,MP:0013772,MP:0000689,MP:0005016,MP:0000599"
+2801,ORPHA:510,Lesch-Nyhan Syndrome,HPRT1,Hprt1<tm1a(EUCOMM)Hmgu> hem early,44.435,"HP:0002149,HP:0001903","MP:0002875,MP:0003179,MP:0002590,MP:0001556"
+2802,ORPHA:510,Lesch-Nyhan Syndrome,HPRT1,Hprt1<tm1a(EUCOMM)Hmgu> hom early,41.29,HP:0001903,"MP:0002590,MP:0002875"
+2803,ORPHA:51608,Generalized Arterial Calcification Of Infancy,ENPP1,Enpp1<em1(IMPC)Ccpcz> hom early,48.415,"HP:0002326,HP:0003836,HP:0009164,HP:0005213,HP:0000573,HP:0000737,HP:0001698,HP:0003941,HP:0002749,HP:0002949,HP:0001531,HP:0002092,HP:0001541,HP:0006690,HP:0001384,HP:0032553,HP:0001640,HP:0004912,HP:0001714,HP:0002815,HP:0000822,HP:0025169,HP:0006559","MP:0004609,MP:0001262,MP:0004174,MP:0000627,MP:0000691,MP:0000137,MP:0020421,MP:0000703,MP:0001363,MP:0000274,MP:0000149,MP:0002932,MP:0000266,MP:0004122,MP:0001417,MP:0000706,MP:0010506,MP:0000689,MP:0000162,MP:0002968,MP:0004357,MP:0000150,MP:0005333"
+2804,ORPHA:51636,Whim Syndrome,CXCR4,Cxcr4<em1(IMPC)Mbp> het early,34.25,"HP:0011992,HP:0001888,HP:0030079,HP:0001875,HP:0011850","MP:0001146,MP:0000220,MP:0000218,MP:0005013,MP:0001148"
+2805,ORPHA:520,Acute Promyelocytic Leukemia,ZBTB16,Zbtb16<em1(IMPC)Mbp> hom early,32.775,"HP:0002039,HP:0001903,HP:0001876,HP:0001974,HP:0001824,HP:0100608,HP:0002716,HP:0001875,HP:0001873,HP:0030955,HP:0001882","MP:0020421,MP:0000692,MP:0003960,MP:0000689,MP:0001147,MP:0001399"
+2806,ORPHA:52417,Malt Lymphoma,FOXP1,Foxp1<tm1b(KOMP)Wtsi> het early,14.705,HP:0001824,MP:0003960
+2807,ORPHA:52429,Branchiootic Syndrome,SIX1,Six1<em1(IMPC)Mbp> het early,12.655,HP:0000175,MP:0009476
+2808,ORPHA:52429,Branchiootic Syndrome,SIX1,Six1<em1(IMPC)Mbp> het embryo,16.445,HP:0009795,"MP:0001711,MP:0003231"
+2809,ORPHA:52429,Branchiootic Syndrome,SIX1,Six1<em1(IMPC)Mbp> hom embryo,15.97,HP:0009795,"MP:0001711,MP:0003984"
+2810,ORPHA:528,Congenital Generalized Lipodystrophy,PPARG,Pparg<tm1b(KOMP)Wtsi> het early,38.685,"HP:0000819,HP:0000842,HP:0008887,HP:0001508,HP:0009125,HP:0000855","MP:0013279,MP:0003961,MP:0010024"
+2811,ORPHA:528,Congenital Generalized Lipodystrophy,BSCL2,Bscl2<tm1b(EUCOMM)Hmgu> hom early,58.88,"HP:0003124,HP:0000819,HP:0000842,HP:0012062,HP:0030796,HP:0008887,HP:0001508,HP:0002155,HP:0009125,HP:0000855,HP:0001176,HP:0001833","MP:0002965,MP:0000194,MP:0002764,MP:0002941,MP:0005343,MP:0003960,MP:0005568,MP:0005559,MP:0001566,MP:0005178,MP:0010124,MP:0003795,MP:0002968,MP:0010025,MP:0013279,MP:0001556,MP:0005292"
+2812,ORPHA:528,Congenital Generalized Lipodystrophy,FOS,Fos<em1(IMPC)Mbp> het early,35.42,"HP:0009125,HP:0008887,HP:0001508","MP:0003961,MP:0010024"
+2813,ORPHA:528,Congenital Generalized Lipodystrophy,FOS,Fos<em1(IMPC)Mbp> hom embryo,25.46,"HP:0001635,HP:0001639",MP:0001914
+2814,ORPHA:528,Congenital Generalized Lipodystrophy,CAV1,Cav1<em2(IMPC)Ics> hom early,51.37,"HP:0003124,HP:0001635,HP:0001639,HP:0030796,HP:0002155","MP:0005178,MP:0001556,MP:0002626,MP:0005140"
+2815,ORPHA:528,Congenital Generalized Lipodystrophy,AGPAT2,Agpat2<em1(IMPC)Ccpcz> het early,53.01,"HP:0003124,HP:0000147,HP:0001394,HP:0000876,HP:0010465,HP:0000819,HP:0008665,HP:0000842,HP:0030796,HP:0000141,HP:0001397,HP:0002155,HP:0003247,HP:0002240,HP:0000158","MP:0001146,MP:0002965,MP:0003068,MP:0003883,MP:0000598,MP:0000689,MP:0005568,MP:0001147,MP:0001120,MP:0000470,MP:0000599,MP:0000691,MP:0004906"
+2816,ORPHA:529665,Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome,GPAA1,Gpaa1<em1(IMPC)Bay> het early,23.24,HP:0000648,MP:0002792
+2817,ORPHA:529962,17Q24.2 Microdeletion Syndrome,BPTF,Bptf<em1(IMPC)Bay> het early,22.895,"HP:0003028,HP:0000470,HP:0002967,HP:0002650,HP:0003019",MP:0004609
+2818,ORPHA:529970,Male Infertility Due To Acephalic Spermatozoa,SUN5,Sun5<em1(IMPC)Mbp> hom early,61.37,"HP:0000798,HP:0012867,HP:0012869,HP:0012207,HP:0003251",MP:0001925
+2819,ORPHA:529970,Male Infertility Due To Acephalic Spermatozoa,SUN5,Sun5<em1(IMPC)Mbp> hom late,23.925,"HP:0012869,HP:0000798,HP:0012867",MP:0001146
+2820,ORPHA:536,Systemic Lupus Erythematosus,IRF5,Irf5<tm1e(EUCOMM)Wtsi> hom early,33.385,"HP:0001882,HP:0001873,HP:0001878","MP:0000221,MP:0010836"
+2821,ORPHA:536,Systemic Lupus Erythematosus,DNASE1,Dnase1<tm1.1(KOMP)Vlcg> hom early,11.43,"HP:0012085,HP:0033726,HP:0000790,HP:0000093",MP:0000538
+2822,ORPHA:536,Systemic Lupus Erythematosus,KIAA0319L,AU040320<em1(IMPC)J> hom early,28.115,"HP:0001369,HP:0000488,HP:0002039,HP:0000716","MP:0001399,MP:0000063,MP:0001325"
+2823,ORPHA:536,Systemic Lupus Erythematosus,KIAA0319L,AU040320<em1(IMPC)J> hom late,31.145,"HP:0002039,HP:0001596,HP:0000488,HP:0001824,HP:0000716,HP:0002072","MP:0003961,MP:0001284,MP:0001325,MP:0001523,MP:0001415,MP:0001399,MP:0002075"
+2824,ORPHA:536,Systemic Lupus Erythematosus,ITGAM,Itgam<em1(IMPC)Wtsi> hom early,25.8,"HP:0001882,HP:0001873,HP:0001878",MP:0005561
+2825,ORPHA:536,Systemic Lupus Erythematosus,TNIP1,Tnip1<tm1b(EUCOMM)Hmgu> hom early,45.435,"HP:0000822,HP:0002039,HP:0001878,HP:0000716,HP:0002716,HP:0030880,HP:0001873,HP:0001882","MP:0002875,MP:0002599,MP:0020421,MP:0000220,MP:0010067,MP:0003179,MP:0005012,MP:0002874,MP:0004952,MP:0005561,MP:0012362,MP:0005641,MP:0005016,MP:0000208,MP:0010506,MP:0002606"
+2826,ORPHA:536,Systemic Lupus Erythematosus,STAT4,Stat4<em1(IMPC)Mbp> hom early,12.71,"HP:0012085,HP:0033726,HP:0000790,HP:0000093","MP:0002989,MP:0002135"
+2827,ORPHA:536,Systemic Lupus Erythematosus,PXK,Pxk<em1(IMPC)Tcp> hom early,26.34,"HP:0001873,HP:0001882,HP:0001824,HP:0001878","MP:0003961,MP:0005642"
+2828,ORPHA:536,Systemic Lupus Erythematosus,TREX1,Trex1<em1(IMPC)Ccpcz> het early,26.7,"HP:0012085,HP:0001878,HP:0000093,HP:0001873,HP:0002716,HP:0033726,HP:0000790,HP:0001882","MP:0003068,MP:0002135,MP:0000691,MP:0000689"
+2829,ORPHA:536,Systemic Lupus Erythematosus,TREX1,Trex1<em1(IMPC)Ccpcz> hom early,45.41,"HP:0012085,HP:0001878,HP:0000093,HP:0000790,HP:0100825,HP:0001824,HP:0100669,HP:0002716,HP:0000155,HP:0033726,HP:0001873,HP:0001882","MP:0013129,MP:0002599,MP:0003917,MP:0008045,MP:0000220,MP:0010067,MP:0003179,MP:0000703,MP:0003960,MP:0004952,MP:0013772,MP:0000689,MP:0000219,MP:0005016,MP:0000709,MP:0000691"
+2830,ORPHA:538,Lymphangioleiomyomatosis,TSC1,Tsc1<em1(IMPC)Ccpcz> het early,21.32,"HP:0000648,HP:0002716,HP:0009594","MP:0000703,MP:0000709,MP:0002792"
+2831,ORPHA:538934,X-Linked Lymphoproliferative Disease Due To Xiap Deficiency,XIAP,Xiap<tm1a(EUCOMM)Hmgu> hom early,35.295,HP:0004313,MP:0008499
+2832,ORPHA:540,Familial Hemophagocytic Lymphohistiocytosis,PRF1,Prf1<tm1.1(KOMP)Vlcg> hom early,32.735,"HP:0001903,HP:0012156,HP:0001875,HP:0001873,HP:0001744",MP:0005642
+2833,ORPHA:540,Familial Hemophagocytic Lymphohistiocytosis,STX11,Stx11<em1(IMPC)Mbp> hom early,30.25,"HP:0001903,HP:0003281,HP:0002155,HP:0012211,HP:0012156,HP:0001875,HP:0003073,HP:0002240,HP:0001873,HP:0001744","MP:0002989,MP:0002135,MP:0005013,MP:0002833,MP:0005565"
+2834,ORPHA:544503,Rnf13-Related Severe Early-Onset Epileptic Encephalopathy,RNF13,Rnf13<tm1.1(KOMP)Vlcg> hom early,13.82,"HP:0001182,HP:0006094,HP:0006070","MP:0000556,MP:0012000"
+2835,ORPHA:54595,Craniopharyngioma,CTNNB1,Ctnnb1<Bfc> het early,18.315,HP:0002659,"MP:0002896,MP:0000062"
+2836,ORPHA:552,Mody,PAX4,Pax4<tm1b(EUCOMM)Hmgu> het early,31.695,"HP:0030794,HP:0040217","MP:0002968,MP:0005568"
+2837,ORPHA:552,Mody,PDX1,Pdx1<tm1b(EUCOMM)Wtsi> het early,47.28,"HP:0040216,HP:0003074,HP:0000831,HP:0001952,HP:0001998,HP:0004924,HP:0003076,HP:0000825,HP:0008255",MP:0005293
+2838,ORPHA:552,Mody,HNF4A,Hnf4a<tm1b(EUCOMM)Hmgu> het early,34.065,"HP:0000488,HP:0030794,HP:0040217","MP:0010097,MP:0001325,MP:0011964,MP:0005178,MP:0005344,MP:0001556,MP:0002792"
+2839,ORPHA:552,Mody,HNF4A,Hnf4a<tm1b(EUCOMM)Hmgu> het late,26.75,"HP:0040216,HP:0002594,HP:0040214,HP:0040217,HP:0000831,HP:0030794,HP:0000825,HP:0008255","MP:0005355,MP:0005178,MP:0000194,MP:0005554"
+2840,ORPHA:552,Mody,HNF4A,Hnf4a<tm1b(EUCOMM)Hmgu> het middle,24.35,"HP:0001513,HP:0001520,HP:0025502",MP:0001262
+2841,ORPHA:552,Mody,KCNJ11,Kcnj11<tm1b(EUCOMM)Wtsi> hom early,50.98,"HP:0040216,HP:0003074,HP:0040217,HP:0000831,HP:0001952,HP:0001998,HP:0004924,HP:0003076,HP:0000825,HP:0008255","MP:0002874,MP:0013278,MP:0005293"
+2842,ORPHA:552,Mody,BLK,Blk<tm1.1(KOMP)Vlcg> hom early,17.14,"HP:0040216,HP:0002594,HP:0040214,HP:0000831,HP:0000825,HP:0008255","MP:0001147,MP:0001146"
+2843,ORPHA:552,Mody,GCK,Gck<em1(IMPC)H> het early,56.465,"HP:0040216,HP:0003074,HP:0040217,HP:0000831,HP:0001952,HP:0001998,HP:0004924,HP:0003076,HP:0030794,HP:0000825,HP:0008255","MP:0005293,MP:0013279,MP:0002968,MP:0005559"
+2844,ORPHA:552,Mody,ABCC8,Abcc8<em1(IMPC)J> hom early,49.685,"HP:0040216,HP:0003074,HP:0000831,HP:0001513,HP:0001520,HP:0001952,HP:0025502,HP:0001998,HP:0004924,HP:0003076,HP:0000825,HP:0008255","MP:0003960,MP:0005293"
+2845,ORPHA:557003,Oculoskeletodental Syndrome,PIK3C2A,Pik3c2a<tm1b(EUCOMM)Hmgu> hom embryo,18.825,HP:0004322,MP:0003984
+2846,ORPHA:560,Marshall Syndrome,COL11A1,Col11a1<em1(IMPC)Bay> hom embryo,41.88,"HP:0000179,HP:0000215,HP:0000164,HP:0000343,HP:0002857,HP:0000175,HP:0000218","MP:0002109,MP:0009908,MP:0000111"
+2847,ORPHA:56304,Atelosteogenesis Type Ii,SLC26A2,Slc26a2<em1(IMPC)Bay> hom embryo,29.905,"HP:0012427,HP:0100337,HP:0006009,HP:0001156,HP:0100694,HP:0001234,HP:0010049,HP:0009803,HP:0006375,HP:0001230,HP:0001193,HP:0006385,HP:0000219,HP:0008905,HP:0001852,HP:0001776,HP:0002857,HP:0000175,HP:0012385,HP:0004991,HP:0001840,HP:0009824,HP:0000343,HP:0002983,HP:0003097,HP:0009826","MP:0002109,MP:0009908"
+2848,ORPHA:56305,Atelosteogenesis Type Iii,FLNB,Flnb<tm1b(KOMP)Wtsi> het early,18.43,"HP:0008755,HP:0003902","MP:0010124,MP:0000063"
+2849,ORPHA:563609,Isolated Anencephaly,VANGL2,Vangl2<em1(IMPC)Mbp> hom embryo,37.07,"HP:0001511,HP:0410030","MP:0003984,MP:0000111"
+2850,ORPHA:563612,Isolated Exencephaly,VANGL2,Vangl2<em1(IMPC)Mbp> hom embryo,34.965,"HP:0001360,HP:0005466,HP:0002683","MP:0000914,MP:0011495"
+2851,ORPHA:564,Meckel Syndrome,TCTN3,Tctn3<em1(IMPC)J> het late,34.055,"HP:0000647,HP:0000518,HP:0008053,HP:0000482",MP:0001303
+2852,ORPHA:564,Meckel Syndrome,TCTN3,Tctn3<em1(IMPC)J> hom embryo,48.99,"HP:0006487,HP:0000568,HP:0008053,HP:0002084,HP:0002323,HP:0000528,HP:0001830,HP:0001177,HP:0001162","MP:0000562,MP:0001697,MP:0001293"
+2853,ORPHA:564,Meckel Syndrome,TMEM237,Tmem237<tm1b(EUCOMM)Hmgu> het early,39.345,"HP:0000648,HP:0006487,HP:0001747,HP:0001746,HP:0010459,HP:0000532,HP:0001162,HP:0000037,HP:0100732,HP:0001830,HP:0001696,HP:0001737,HP:0001177,HP:0000062,HP:0000028","MP:0000639,MP:0001146,MP:0002339,MP:0000702,MP:0002768,MP:0001325,MP:0001147,MP:0004357,MP:0000274,MP:0000627,MP:0000266"
+2854,ORPHA:564,Meckel Syndrome,TCTN1,Tctn1<em1(IMPC)Mbp> het early,17.805,HP:0000648,MP:0002699
+2855,ORPHA:564,Meckel Syndrome,TCTN1,Tctn1<em1(IMPC)Mbp> het embryo,29.095,"HP:0000238,HP:0002323,HP:0006870,HP:0002084",MP:0003054
+2856,ORPHA:564,Meckel Syndrome,TCTN1,Tctn1<em1(IMPC)Mbp> hom embryo,29.095,"HP:0000238,HP:0002323,HP:0006870,HP:0002084",MP:0003054
+2857,ORPHA:564,Meckel Syndrome,CEP290,Cep290<em1(IMPC)Mbp> het early,12.15,"HP:0001747,HP:0001746","MP:0005642,MP:0005562"
+2858,ORPHA:564,Meckel Syndrome,CEP290,Cep290<em1(IMPC)Mbp> hom embryo,10.48,"HP:0002323,HP:0002084",MP:0001711
+2859,ORPHA:565,Menkes Disease,ATP7A,Atp7a<em1(IMPC)J> hem early,38.705,"HP:0005599,HP:0002224,HP:0008070",MP:0002075
+2860,ORPHA:565,Menkes Disease,ATP7A,Atp7a<em1(IMPC)J> hem late,18.425,"HP:0005599,HP:0002224,HP:0008070",MP:0000367
+2861,ORPHA:565,Menkes Disease,ATP7A,Atp7a<em1(IMPC)J> hom early,38.705,"HP:0005599,HP:0002224,HP:0008070",MP:0002075
+2862,ORPHA:565624,Combined Oxidative Phosphorylation Defect Type 39,GFM2,Gfm2<em1(IMPC)Mbp> het early,14.865,HP:0000028,MP:0000639
+2863,ORPHA:567,22Q11.2 Deletion Syndrome,HIRA,Hira<tm1a(EUCOMM)Wtsi> het early,19.715,"HP:0000778,HP:0001873,HP:0001744",MP:0000221
+2864,ORPHA:567,22Q11.2 Deletion Syndrome,ARVCF,Arvcf<tm1e(EUCOMM)Wtsi> het early,29.435,"HP:0000047,HP:0000829,HP:0001744,HP:0000130,HP:0001081,HP:0000778,HP:0001873,HP:0000028,HP:0001872","MP:0002599,MP:0006415"
+2865,ORPHA:567,22Q11.2 Deletion Syndrome,ARVCF,Arvcf<tm1e(EUCOMM)Wtsi> hom early,41.245,"HP:0007018,HP:0005562,HP:0000047,HP:0000113,HP:0000716,HP:0000627,HP:0001300,HP:0001744,HP:0001369,HP:0000076,HP:0001136,HP:0002251,HP:0002901,HP:0000518,HP:0001382,HP:0000648,HP:0011496,HP:0000089,HP:0011324,HP:0000778,HP:0001873","MP:0000745,MP:0001304,MP:0000220,MP:0000063,MP:0001325,MP:0001303,MP:0003795,MP:0008259,MP:0002968,MP:0001399,MP:0011965,MP:0001756"
+2866,ORPHA:567,22Q11.2 Deletion Syndrome,JMJD1C,Jmjd1c<tm1a(EUCOMM)Wtsi> het early,26,"HP:0011496,HP:0000470,HP:0000518,HP:0002650,HP:0000627","MP:0002546,MP:0003036,MP:0001322"
+2867,ORPHA:567,22Q11.2 Deletion Syndrome,COMT,Comt<tm1b(EUCOMM)Wtsi> hom early,34.525,"HP:0002901,HP:0007018,HP:0000716,HP:0000778,HP:0001873,HP:0001744","MP:0002875,MP:0001364,MP:0002941,MP:0002874,MP:0005419,MP:0001566,MP:0020870,MP:0005567,MP:0001399"
+2868,ORPHA:567,22Q11.2 Deletion Syndrome,GP1BB,Gp1bb<tm1.1(KOMP)Vlcg> hom early,41.505,"HP:0000821,HP:0000047,HP:0001872,HP:0000829,HP:0000836,HP:0000130,HP:0001081,HP:0000778,HP:0001873,HP:0000028,HP:0001744","MP:0002590,MP:0001146,MP:0002599,MP:0003179,MP:0001120,MP:0001147,MP:0009709"
+2869,ORPHA:567,22Q11.2 Deletion Syndrome,RREB1,Rreb1<tm1b(EUCOMM)Wtsi> het early,47.58,"HP:0002901,HP:0001537,HP:0001513,HP:0001508,HP:0000682,HP:0000023,HP:0000778,HP:0001873,HP:0001744","MP:0002875,MP:0010067,MP:0005419,MP:0003960,MP:0002874,MP:0000218,MP:0000195,MP:0010025,MP:0000208"
+2870,ORPHA:567,22Q11.2 Deletion Syndrome,TBX1,Tbx1<em1(IMPC)Mbp> het early,33.21,"HP:0000568,HP:0000829,HP:0001744,HP:0000648,HP:0000778,HP:0000028,HP:0001081","MP:0001289,MP:0001944,MP:0001293"
+2871,ORPHA:567,22Q11.2 Deletion Syndrome,TBX1,Tbx1<em1(IMPC)Mbp> het embryo,38.225,"HP:0000568,HP:0002435,HP:0002414,HP:0001537","MP:0001297,MP:0001711"
+2872,ORPHA:567,22Q11.2 Deletion Syndrome,TBX1,Tbx1<em1(IMPC)Mbp> hom embryo,29.31,"HP:0001537,HP:0001561,HP:0002435,HP:0002414,HP:0004322,HP:0001511","MP:0001711,MP:0003984,MP:0001785"
+2873,ORPHA:568,"Microphthalmia, Lenz Type",NAA10,Naa10<em1(IMPC)Mbp> hem early,37.885,"HP:0008678,HP:0000047,HP:0000072,HP:0000126,HP:0000028","MP:0002989,MP:0001146,MP:0002135,MP:0003068,MP:0001147"
+2874,ORPHA:568,"Microphthalmia, Lenz Type",NAA10,Naa10<em1(IMPC)Mbp> hem late,33.67,"HP:0008678,HP:0000047,HP:0000072,HP:0000126,HP:0000028","MP:0000639,MP:0002135,MP:0003068,MP:0002059,MP:0004931"
+2875,ORPHA:568,"Microphthalmia, Lenz Type",NAA10,Naa10<em1(IMPC)Mbp> hom early,20.935,"HP:0000047,HP:0100490,HP:0000028","MP:0001120,MP:0010025"
+2876,ORPHA:568,"Microphthalmia, Lenz Type",NAA10,Naa10<em1(IMPC)Mbp> hom late,45.005,"HP:0008678,HP:0000568,HP:0000047,HP:0000072,HP:0000126,HP:0000028","MP:0002135,MP:0003068,MP:0001126,MP:0001297,MP:0009709"
+2877,ORPHA:569,Familial Or Sporadic Hemiplegic Migraine,PRRT2,Prrt2<tm1b(KOMP)Wtsi> hom early,29.305,HP:0001289,MP:0001454
+2878,ORPHA:570,Moebius Syndrome,REV3L,Rev3l<tm1b(EUCOMM)Hmgu> het early,27.355,"HP:0007957,HP:0002015","MP:0001304,MP:0001399"
+2879,ORPHA:572,Immunodeficiency By Defective Expression Of Mhc Class Ii,RFXANK,Rfxank<tm1b(EUCOMM)Hmgu> hom early,24.995,HP:0025347,MP:0002968
+2880,ORPHA:572,Immunodeficiency By Defective Expression Of Mhc Class Ii,RFXAP,Rfxap<em1(IMPC)J> hom early,11.76,HP:0000371,MP:0004738
+2881,ORPHA:572013,Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome,CEP85L,Cep85l<em1(IMPC)Mbp> hom early,29.35,"HP:0002015,HP:0000733,HP:0000609,HP:0000011","MP:0002135,MP:0001364,MP:0003068,MP:0004738,MP:0020870"
+2882,ORPHA:576,Mucolipidosis Type Ii,GNPTAB,Gnptab<em1(IMPC)Mbp> het early,13.515,"HP:0001712,HP:0001433,HP:0001744",MP:0003068
+2883,ORPHA:576,Mucolipidosis Type Ii,GNPTAB,Gnptab<em1(IMPC)Mbp> het late,40.93,"HP:0001712,HP:0001633,HP:0001433,HP:0001638,HP:0001655,HP:0001646,HP:0001744","MP:0002339,MP:0000702,MP:0004832,MP:0000689,MP:0000274,MP:0000691,MP:0000266"
+2884,ORPHA:576,Mucolipidosis Type Ii,GNPTAB,Gnptab<em1(IMPC)Mbp> hom embryo,19.475,HP:0001537,"MP:0001711,MP:0003231,MP:0004258"
+2885,ORPHA:586,Cystic Fibrosis,GCLC,Gclc<tm1a(EUCOMM)Wtsi> hom early,14.13,"HP:0045082,HP:0001508",MP:0003960
+2886,ORPHA:586,Cystic Fibrosis,SLC6A14,Slc6a14<tm1b(KOMP)Wtsi> hem early,27.76,HP:0012873,"MP:0002631,MP:0004931"
+2887,ORPHA:586,Cystic Fibrosis,DCTN4,Dctn4<em1(IMPC)Wtsi> het early,20.225,HP:0002570,MP:0001554
+2888,ORPHA:586,Cystic Fibrosis,GSTM3,Gstm5<em1(IMPC)Mbp> hom early,24.53,HP:0000716,MP:0001417
+2889,ORPHA:586,Cystic Fibrosis,SLC26A9,Slc26a9<em1(IMPC)Mbp> het early,23.425,HP:0000787,"MP:0003068,MP:0002135"
+2890,ORPHA:586,Cystic Fibrosis,SLC11A1,Slc11a1<em1(IMPC)Mbp> hom early,15.79,"HP:0001392,HP:0001394,HP:0001738","MP:0000691,MP:0000689"
+2891,ORPHA:586,Cystic Fibrosis,KCNN4,Kcnn4<em1(IMPC)Ccpcz> hom early,51.915,"HP:0001392,HP:0001394,HP:0002020,HP:0001738,HP:0012873,HP:0000246,HP:0002910,HP:0000716,HP:0002570,HP:0002035,HP:0004401","MP:0001146,MP:0020421,MP:0000601,MP:0001157,MP:0002059,MP:0004952,MP:0000598,MP:0002100,MP:0000492,MP:0001417,MP:0000495,MP:0001148,MP:0000689,MP:0009709,MP:0000691,MP:0009476"
+2892,ORPHA:588,Muscle-Eye-Brain Disease,B3GALNT2,B3galnt2<em1(IMPC)J> het late,28.295,HP:0001288,MP:0001392
+2893,ORPHA:588,Muscle-Eye-Brain Disease,B3GALNT2,B3galnt2<em1(IMPC)J> hom embryo,15.08,HP:0002435,MP:0001697
+2894,ORPHA:589905,Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome,PHIP,Phip<em1(IMPC)Tcp> het early,42.735,"HP:0100710,HP:0007018,HP:0000028","MP:0002637,MP:0001399"
+2895,ORPHA:59181,Sorsby Pseudoinflammatory Fundus Dystrophy,TIMP3,Timp3<tm1.1(KOMP)Vlcg> hom early,64.285,"HP:0007722,HP:0007754,HP:0030602,HP:0000580,HP:0030500,HP:0030491,HP:0000533,HP:0000610,HP:0001105,HP:0030625,HP:0031528,HP:0011506","MP:0010097,MP:0001325"
+2896,ORPHA:599373,Stxbp1-Related Encephalopathy,STXBP1,Stxbp1<tm1b(EUCOMM)Hmgu> het early,51.315,HP:0000752,"MP:0002797,MP:0001399,MP:0001415"
+2897,ORPHA:60030,Loeys-Dietz Syndrome,TGFB3,Tgfb3<tm1.1(KOMP)Vlcg> het early,16.76,HP:0100718,MP:0001146
+2898,ORPHA:60033,Idiopathic Bronchiectasis,SCNN1B,Scnn1b<tm1b(EUCOMM)Hmgu> het early,22.38,HP:0001217,MP:0004509
+2899,ORPHA:602,Gne Myopathy,GNE,Gne<em1(IMPC)Mbp> hom embryo,27.165,HP:0001638,MP:0000266
+2900,ORPHA:603,"Distal Myopathy, Welander Type",SQSTM1,Sqstm1<tm1a(KOMP)Wtsi> hom early,42.175,HP:0008180,"MP:0005179,MP:0002968,MP:0000183,MP:0000186"
+2901,ORPHA:606,Proximal Myotonic Myopathy,CNBP,Cnbp<tm1b(KOMP)Wtsi> het early,21.32,HP:0003077,"MP:0005627,MP:0005419,MP:0003019"
+2902,ORPHA:610,Bethlem Muscular Dystrophy,COL6A3,Col6a3<em1(IMPC)Kmpc> hom early,15.4,HP:0003236,MP:0000182
+2903,ORPHA:614,Thomsen And Becker Disease,CLCN1,Clcn1<em1(IMPC)Mbp> hom early,21.765,"HP:0002015,HP:0002312","MP:0000745,MP:0020870"
+2904,ORPHA:618,Familial Melanoma,BAP1,Bap1<tm1a(EUCOMM)Hmgu> het early,20.945,HP:0001595,MP:0002098
+2905,ORPHA:618,Familial Melanoma,MC1R,Mc1r<tm1.1(KOMP)Vlcg> hom early,36.245,"HP:0001480,HP:0001595",MP:0002075
+2906,ORPHA:618,Familial Melanoma,TERF2IP,Terf2ip<em1(IMPC)Mbp> hom early,37.075,HP:0000958,MP:0001192
+2907,ORPHA:626,Large/Giant Congenital Melanocytic Nevus,NRAS,Nras<tm1b(EUCOMM)Hmgu> het early,13.16,HP:0004912,MP:0001556
+2908,ORPHA:628,Diastrophic Dysplasia,SLC26A2,Slc26a2<em1(IMPC)Bay> hom embryo,28.45,"HP:0006487,HP:0001234,HP:0001762,HP:0000160,HP:0000944,HP:0100490,HP:0001852,HP:0009381,HP:0009773,HP:0002983,HP:0009623,HP:0000175,HP:0002857,HP:0004209,HP:0009465,HP:0001156,HP:0005916","MP:0002109,MP:0009908"
+2909,ORPHA:63273,Distal Myopathy With Posterior Leg And Anterior Hand Involvement,FLNC,Flnc<em1(IMPC)Bay> hom embryo,32.265,HP:0001638,"MP:0000266,MP:0000269"
+2910,ORPHA:633,Laron Syndrome,GHR,Ghr<tm1b(KOMP)Wtsi> het early,16.465,HP:0003124,MP:0005633
+2911,ORPHA:634,Netherton Syndrome,SPINK5,Spink5<em1(IMPC)J> het early,20.505,"HP:0002209,HP:0045075,HP:0009886,HP:0000653,HP:0002213,HP:0001595",MP:0001284
+2912,ORPHA:63442,Angel-Shaped Phalango-Epiphyseal Dysplasia,GDF5,Gdf5<em1(IMPC)H> hom early,35.715,"HP:0008843,HP:0004220,HP:0005819,HP:0005930,HP:0001382,HP:0001385,HP:0010034","MP:0000556,MP:0000572,MP:0000062,MP:0002110,MP:0000550"
+2913,ORPHA:635,Neuroblastoma,LIN28B,Lin28b<tm1b(EUCOMM)Hmgu> hom early,28.77,HP:0000737,MP:0001417
+2914,ORPHA:635,Neuroblastoma,LMO1,Lmo1<tm1b(KOMP)Mbp> hom early,34.14,"HP:0031955,HP:0001251,HP:0000737","MP:0002757,MP:0001364,MP:0001399,MP:0020870"
+2915,ORPHA:64,Alström Syndrome,ALMS1,Alms1<tm1b(EUCOMM)Hmgu> hom early,19.24,"HP:0002155,HP:0003077,HP:0001251","MP:0001392,MP:0008806"
+2916,ORPHA:642,Hereditary Sensory And Autonomic Neuropathy Type 4,NTRK1,Ntrk1<tm1b(EUCOMM)Wtsi> het early,15.41,"HP:0025615,HP:0001903,HP:0030757",MP:0002606
+2917,ORPHA:648,Noonan Syndrome,LZTR1,Lztr1<tm1a(EUCOMM)Wtsi> het early,13.495,"HP:0012209,HP:0001743",MP:0010067
+2918,ORPHA:648,Noonan Syndrome,RAF1,Raf1<tm1b(EUCOMM)Wtsi> het early,21.44,HP:0000635,"MP:0001304,MP:0001303"
+2919,ORPHA:648,Noonan Syndrome,CBL,Cbl<tm1b(EUCOMM)Hmgu> het early,33.24,"HP:0001641,HP:0001631,HP:0001639,HP:0011675,HP:0003115","MP:0002953,MP:0003896"
+2920,ORPHA:648,Noonan Syndrome,NRAS,Nras<tm1b(EUCOMM)Hmgu> het early,20.56,"HP:0002974,HP:0000347,HP:0001156,HP:0004209",MP:0002764
+2921,ORPHA:648,Noonan Syndrome,SPRED2,Spred2<em1(IMPC)Mbp> hom early,31.295,"HP:0001743,HP:0100763,HP:0000635,HP:0010946,HP:0012209,HP:0002240,HP:0000218","MP:0000702,MP:0002591,MP:0001304,MP:0010067,MP:0003068,MP:0003883,MP:0000598,MP:0000691"
+2922,ORPHA:648,Noonan Syndrome,RIT1,Rit1<em1(IMPC)Mbp> hom early,22.77,"HP:0001743,HP:0010946,HP:0012209,HP:0002240,HP:0011869","MP:0003068,MP:0010067,MP:0002599"
+2923,ORPHA:648,Noonan Syndrome,RRAS2,Rras2<em1(IMPC)Ccpcz> hom early,22.675,"HP:0012209,HP:0000044,HP:0000028,HP:0001743","MP:0009709,MP:0000703,MP:0001120,MP:0008044,MP:0000709"
+2924,ORPHA:65,Leber Congenital Amaurosis,RPE65,Rpe65<tm1a(EUCOMM)Hmgu> hom early,42.27,"HP:0000563,HP:0012426,HP:0000518,HP:0007703,HP:0000543,HP:0012795","MP:0001317,MP:0006243,MP:0001325"
+2925,ORPHA:65,Leber Congenital Amaurosis,SPATA7,Spata7<tm1.1(KOMP)Vlcg> hom early,38.335,"HP:0012795,HP:0000543,HP:0012426,HP:0007703",MP:0001325
+2926,ORPHA:65,Leber Congenital Amaurosis,KCNJ13,Kcnj13<tm1b(KOMP)Wtsi> hom embryo,15.54,HP:0002084,MP:0001697
+2927,ORPHA:65,Leber Congenital Amaurosis,IQCB1,Iqcb1<em1(IMPC)Bay> het early,49.105,"HP:0000563,HP:0000518",MP:0011962
+2928,ORPHA:65,Leber Congenital Amaurosis,RD3,Rd3<em1(IMPC)Bay> hom early,48.685,"HP:0000563,HP:0012426,HP:0000518,HP:0007703,HP:0000543,HP:0012795","MP:0003731,MP:0001325,MP:0003733,MP:0011960,MP:0011959,MP:0011965"
+2929,ORPHA:65,Leber Congenital Amaurosis,CEP290,Cep290<em1(IMPC)Mbp> hom embryo,11.44,HP:0002084,MP:0001711
+2930,ORPHA:65,Leber Congenital Amaurosis,CRX,Crx<em1(IMPC)Ccpcz> hom early,35.87,"HP:0012795,HP:0000543,HP:0012426,HP:0007703",MP:0001325
+2931,ORPHA:65,Leber Congenital Amaurosis,GDF6,Gdf6<em1(IMPC)Ccpcz> het early,51.53,"HP:0012426,HP:0002084,HP:0007703,HP:0000543,HP:0012795","MP:0001891,MP:0008259,MP:0010097,MP:0001325"
+2932,ORPHA:652,Multiple Endocrine Neoplasia Type 1,CDKN1A,Cdkn1a<tm1.1(KOMP)Vlcg> hom early,25.22,"HP:0011760,HP:0000845,HP:0008208,HP:0030445,HP:0100570,HP:0011761,HP:0011759,HP:0003528,HP:0003144,HP:0003118,HP:0030405,HP:0000141,HP:0002893,HP:0001579,HP:0030404,HP:0006780,HP:0006744,HP:0006767,HP:0040306,HP:0002894,HP:0000853,HP:0040085,HP:0000849,HP:0011762,HP:0000802,HP:0006723,HP:0500167,HP:0008291,HP:0012197,HP:0100522,HP:0002666,HP:0002890,HP:0008200","MP:0001147,MP:0001146,MP:0000691,MP:0000689"
+2933,ORPHA:652,Multiple Endocrine Neoplasia Type 1,CDKN1B,Cdkn1b<em2(IMPC)H> hom early,38.37,"HP:0004349,HP:0002797,HP:0030445,HP:0100570,HP:0000716,HP:0003118,HP:0030405,HP:0001579,HP:0001289,HP:0030404,HP:0003072,HP:0000736,HP:0002894,HP:0001293,HP:0002150,HP:0006723,HP:0001254,HP:0012197,HP:0100522,HP:0002666,HP:0002659","MP:0002644,MP:0004952,MP:0000063,MP:0001417,MP:0010124,MP:0002968,MP:0008259"
+2934,ORPHA:65282,Carvajal Syndrome,DSP,Dsp<em1(IMPC)Mbp> hom embryo,27.335,HP:0001644,MP:0000266
+2935,ORPHA:654,Nephroblastoma,TRIP13,Trip13<tm1.1(KOMP)Vlcg> het early,14.43,HP:0003072,MP:0002968
+2936,ORPHA:654,Nephroblastoma,TRIP13,Trip13<tm1.1(KOMP)Vlcg> hom early,40.045,"HP:0003072,HP:0000526,HP:0001903,HP:0001901","MP:0002875,MP:0005102,MP:0002874,MP:0005561,MP:0000208,MP:0005565"
+2937,ORPHA:654,Nephroblastoma,TRIP13,Trip13<tm1.1(KOMP)Vlcg> hom late,25.61,"HP:0000822,HP:0000526,HP:0001903,HP:0001901,HP:0001824,HP:0003072","MP:0001556,MP:0003961,MP:0000218,MP:0001303,MP:0005178,MP:0010506"
+2938,ORPHA:654,Nephroblastoma,REST,Rest<tm2b(EUCOMM)Wtsi> het early,22.58,"HP:0001903,HP:0001901",MP:0008935
+2939,ORPHA:654,Nephroblastoma,DIS3L2,Dis3l2<em1(IMPC)Bay> hom embryo,18.61,HP:0000822,MP:0001914
+2940,ORPHA:656,Hereditary Steroid-Resistant Nephrotic Syndrome,DAAM2,Daam2<tm1a(KOMP)Wtsi> hom early,26.22,HP:0003073,MP:0002968
+2941,ORPHA:656,Hereditary Steroid-Resistant Nephrotic Syndrome,COL4A3,Col4a3<tm1b(EUCOMM)Wtsi> hom early,42.145,"HP:0003774,HP:0012579,HP:0000093,HP:0031504,HP:0001967,HP:0000097,HP:0003073,HP:0012622","MP:0008805,MP:0003917"
+2942,ORPHA:656,Hereditary Steroid-Resistant Nephrotic Syndrome,DAAM2,Daam2<tm1b(KOMP)Wtsi> hom early,29.605,HP:0003073,"MP:0002941,MP:0005343,MP:0008806,MP:0001566"
+2943,ORPHA:656,Hereditary Steroid-Resistant Nephrotic Syndrome,NUP37,Nup37<tm1.1(KOMP)Vlcg> hom early,24.15,HP:0000737,MP:0002574
+2944,ORPHA:656,Hereditary Steroid-Resistant Nephrotic Syndrome,GAPVD1,Gapvd1<em1(IMPC)Mbp> het late,31.635,"HP:0003774,HP:0012579,HP:0000093,HP:0031504,HP:0002586,HP:0001967,HP:0000097,HP:0012622","MP:0002135,MP:0003068,MP:0000598,MP:0000689,MP:0000599,MP:0000691"
+2945,ORPHA:656,Hereditary Steroid-Resistant Nephrotic Syndrome,NUP205,Nup205<em1(IMPC)J> het early,17.925,HP:0003073,MP:0005178
+2946,ORPHA:656,Hereditary Steroid-Resistant Nephrotic Syndrome,TBC1D8B,Tbc1d8b<em1(IMPC)Bay> hem early,16.56,HP:0002586,MP:0004953
+2947,ORPHA:65684,Monomelic Amyotrophy,CEP126,Cep126<tm1b(KOMP)Mbp> hom early,29.99,HP:0001337,MP:0006243
+2948,ORPHA:65759,Carpenter Syndrome,RAB23,Rab23<tm1b(EUCOMM)Wtsi> het early,20.98,"HP:0001748,HP:0001513,HP:0001363","MP:0003961,MP:0002599,MP:0010124"
+2949,ORPHA:664,Ornithine Transcarbamylase Deficiency,OTC,Otc<em1(IMPC)Tcp> het early,26.17,"HP:0003572,HP:0005961,HP:0002908,HP:0001987,HP:0001744","MP:0002941,MP:0000709,MP:0001552"
+2950,ORPHA:66628,Obesity Due To Congenital Leptin Deficiency,LEP,Lep<tm1b(EUCOMM)Hmgu> hom early,32.58,"HP:0002591,HP:0004926,HP:0008724,HP:0000815,HP:0005407,HP:0000786","MP:0010392,MP:0004953,MP:0011951,MP:0001925,MP:0001926,MP:0001363,MP:0005333"
+2951,ORPHA:66634,Dilated Cardiomyopathy With Ataxia,DNAJC19,Dnajc19<tm1a(EUCOMM)Hmgu> hom early,35.885,"HP:0004840,HP:0004856,HP:0001998,HP:0003530","MP:0002968,MP:0005559,MP:0005642"
+2952,ORPHA:667,Autosomal Recessive Malignant Osteopetrosis,TCIRG1,Tcirg1<em1(IMPC)Ccpcz> het early,27.035,"HP:0001641,HP:0007807,HP:0002240,HP:0001744","MP:0002792,MP:0003917,MP:0000274,MP:0000266"
+2953,ORPHA:67042,Late-Onset Retinal Degeneration,C1QTNF5,C1qtnf5<tm1.1(KOMP)Vlcg> het early,45.925,"HP:0011510,HP:0007791,HP:0500087,HP:0000608,HP:0001099,HP:0000533,HP:0100014,HP:0031530,HP:0007401,HP:0011506",MP:0001325
+2954,ORPHA:67042,Late-Onset Retinal Degeneration,C1QTNF5,C1qtnf5<tm1.1(KOMP)Vlcg> hom early,46.675,"HP:0011510,HP:0007791,HP:0500087,HP:0000608,HP:0001099,HP:0000533,HP:0100014,HP:0031530,HP:0007401,HP:0011506",MP:0001325
+2955,ORPHA:676,Hereditary Chronic Pancreatitis,CASR,Casr<tm1b(KOMP)Mbp> het early,45.725,"HP:0100027,HP:0011227,HP:0005213,HP:0000952","MP:0000194,MP:0001944,MP:0001566"
+2956,ORPHA:676,Hereditary Chronic Pancreatitis,CPA1,Cpa1<em1(IMPC)Marc> hom early,46.315,HP:0001974,"MP:0002590,MP:0010068,MP:0005561,MP:0000218,MP:0005013"
+2957,ORPHA:681,Hypokalemic Periodic Paralysis,CACNA1S,Cacna1s<tm1.1(KOMP)Vlcg> het early,35.555,HP:0011998,MP:0005560
+2958,ORPHA:681,Hypokalemic Periodic Paralysis,CACNA1S,Cacna1s<tm1.1(KOMP)Vlcg> hom embryo,23.665,HP:0011675,MP:0001914
+2959,ORPHA:681,Hypokalemic Periodic Paralysis,SCN4A,Scn4a<tm2b(KOMP)Wtsi> het early,37.075,"HP:0012726,HP:0008180","MP:0002966,MP:0008806"
+2960,ORPHA:681,Hypokalemic Periodic Paralysis,KCNE3,Kcne3<tm1.1(KOMP)Vlcg> hom early,30.72,"HP:0012726,HP:0008180",MP:0005567
+2961,ORPHA:682,Hyperkalemic Periodic Paralysis,SCN4A,Scn4a<tm2b(KOMP)Wtsi> het early,36.12,"HP:0002902,HP:0002900,HP:0002153,HP:0003236","MP:0002966,MP:0008806"
+2962,ORPHA:684,Paramyotonia Congenita Of Von Eulenburg,SCN4A,Scn4a<tm2b(KOMP)Wtsi> het early,20.695,HP:0011042,"MP:0002966,MP:0008806"
+2963,ORPHA:69087,Naegeli-Franceschetti-Jadassohn Syndrome,KRT14,Krt14<tm1.1(KOMP)Vlcg> hom embryo,26.15,"HP:0006482,HP:0006297,HP:0000670,HP:0011069,HP:0006480,HP:0000164,HP:0006286",MP:0000111
+2964,ORPHA:69126,Papa Syndrome,PSTPIP1,Pstpip1<em1(IMPC)Ccpcz> hom early,33.88,"HP:0002716,HP:0000093","MP:0002135,MP:0003917,MP:0000703,MP:0004952,MP:0000689,MP:0000709,MP:0000691"
+2965,ORPHA:69663,Low Phospholipid-Associated Cholelithiasis,ABCB4,Abcb4<em1(IMPC)H> hom early,42.895,"HP:0001733,HP:0001082,HP:0000819,HP:0003124,HP:0005230,HP:0030991,HP:0001402,HP:0100523,HP:0030151,HP:0002896,HP:0001406,HP:0002613,HP:0001081","MP:0002941,MP:0005627,MP:0000220,MP:0004952,MP:0000218,MP:0005013,MP:0005344,MP:0002968,MP:0005553,MP:0005560,MP:0000219,MP:0005343,MP:0000186,MP:0002606"
+2966,ORPHA:69665,Intrahepatic Cholestasis Of Pregnancy,ABCB4,Abcb4<tm1Bor> hom early,26.055,HP:0001337,MP:0001488
+2967,ORPHA:69665,Intrahepatic Cholestasis Of Pregnancy,ABCB11,Abcb11<tm1a(EUCOMM)Hmgu> hom early,20.065,"HP:0002904,HP:0012202","MP:0005627,MP:0002968"
+2968,ORPHA:69665,Intrahepatic Cholestasis Of Pregnancy,ABCB11,Abcb11<tm1b(EUCOMM)Hmgu> het early,50.11,"HP:0002904,HP:0012202","MP:0011896,MP:0005344,MP:0002968,MP:0008806,MP:0005343"
+2969,ORPHA:69665,Intrahepatic Cholestasis Of Pregnancy,ATP8B1,Atp8b1<em1(IMPC)Tcp> hom early,26.455,"HP:0012689,HP:0001518,HP:0001337","MP:0001157,MP:0003960,MP:0001489"
+2970,ORPHA:69665,Intrahepatic Cholestasis Of Pregnancy,ATP8B1,Atp8b1<em1(IMPC)Tcp> hom late,53.745,"HP:0012202,HP:0001732,HP:0000952,HP:0001541,HP:0001518,HP:0001337,HP:0012689,HP:0002910,HP:0000716,HP:0002904,HP:0001082","MP:0001944,MP:0001486,MP:0001157,MP:0002941,MP:0005627,MP:0003960,MP:0005343,MP:0000598,MP:0001417,MP:0005344,MP:0002968,MP:0000691,MP:0000186"
+2971,ORPHA:69665,Intrahepatic Cholestasis Of Pregnancy,ATP8B1,Atp8b1<em1(IMPC)Tcp> hom middle,30.92,"HP:0001337,HP:0000716","MP:0001486,MP:0001417"
+2972,ORPHA:69665,Intrahepatic Cholestasis Of Pregnancy,ABCB4,Abcb4<em1(IMPC)H> hom early,51.575,"HP:0012202,HP:0001732,HP:0000952,HP:0001541,HP:0002904,HP:0001082","MP:0002941,MP:0005627,MP:0004952,MP:0005344,MP:0002968,MP:0005553,MP:0005343,MP:0000186"
+2973,ORPHA:69665,Intrahepatic Cholestasis Of Pregnancy,NR1H4,Nr1h4<Nr1h4> hom early,31.96,"HP:0002904,HP:0012202,HP:0001337","MP:0001488,MP:0002941,MP:0001556,MP:0005419,MP:0001552,MP:0002968,MP:0005178,MP:0005343"
+2974,ORPHA:701,Alopecia Universalis,HR,Hr<em1(IMPC)H> hom early,34.625,"HP:0000561,HP:0003119,HP:0002232,HP:0002223,HP:0002289","MP:0005179,MP:0002098,MP:0000367,MP:0002966,MP:0001284,MP:0008805,MP:0000186"
+2975,ORPHA:705,Pendred Syndrome,KCNJ10,Kcnj10<tm1b(KOMP)Wtsi> het early,22.57,HP:0001251,MP:0000745
+2976,ORPHA:70592,Transient Predisposition To Invasive Pyogenic Bacterial Infection,IRAK4,Irak4<em1(IMPC)Ccpcz> hom early,19.59,HP:0001875,"MP:0000703,MP:0000709"
+2977,ORPHA:708,Peters Anomaly,PITX2,Pitx2<tm1b(EUCOMM)Wtsi> het early,56.645,"HP:0000523,HP:0000659,HP:0011493,HP:0011483,HP:0007759,HP:0001087,HP:0031159","MP:0001314,MP:0001319"
+2978,ORPHA:708,Peters Anomaly,FOXE3,Foxe3<em1(IMPC)Mbp> hom early,51.925,"HP:0000523,HP:0000659,HP:0011493,HP:0011483,HP:0007759,HP:0001087,HP:0031159",MP:0001314
+2979,ORPHA:708,Peters Anomaly,PAX6,Pax6<em1(IMPC)Mbp> het early,51.095,"HP:0000523,HP:0000659,HP:0011493,HP:0011483,HP:0007759,HP:0001087,HP:0031159","MP:0001314,MP:0005542"
+2980,ORPHA:71,Chylomicron Retention Disease,SAR1B,Sar1b<tm1a(EUCOMM)Wtsi> het early,53.695,"HP:0001927,HP:0002570,HP:0003146","MP:0005179,MP:0002942,MP:0005419,MP:0005505,MP:0000183,MP:0005632,MP:0000186"
+2981,ORPHA:71275,Rh Deficiency Syndrome,RHAG,Rhag<em1(IMPC)Ccpcz> hom early,43.33,"HP:0004444,HP:0001433,HP:0001878,HP:0004446,HP:0011273,HP:0020181,HP:0032231,HP:0002904,HP:0001923,HP:0001972","MP:0002339,MP:0000702,MP:0000703,MP:0005568,MP:0005562,MP:0005178,MP:0000274,MP:0000709"
+2982,ORPHA:71289,Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome,MECOM,Mecom<Jbo> het early,44.58,HP:0004859,"MP:0002875,MP:0002874"
+2983,ORPHA:71289,Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome,MECOM,Mecom<em1(IMPC)J> het early,65.285,HP:0004859,MP:0003179
+2984,ORPHA:71493,Familial Thrombocytosis,THPO,Thpo<tm1.1(KOMP)Vlcg> hom early,36.11,"HP:0004808,HP:0001894,HP:0005506,HP:0001744","MP:0003179,MP:0002599"
+2985,ORPHA:71493,Familial Thrombocytosis,MPL,Mpl<em1(IMPC)Ccpcz> het early,40.57,"HP:0004808,HP:0001894,HP:0005506,HP:0001744","MP:0000691,MP:0000689"
+2986,ORPHA:71493,Familial Thrombocytosis,MPL,Mpl<em1(IMPC)Ccpcz> hom early,31.925,"HP:0004808,HP:0001894,HP:0005506,HP:0001744","MP:0000703,MP:0000709,MP:0000689"
+2987,ORPHA:715,Glycogen Storage Disease Due To Muscle Phosphorylase Kinase Deficiency,PHKG1,Phkg1<tm1.1(KOMP)Vlcg> hom early,12.65,HP:0002913,"MP:0002989,MP:0002135"
+2988,ORPHA:71517,Rapid-Onset Dystonia-Parkinsonism,ATP1A3,Atp1a3<tm1b(EUCOMM)Hmgu> het early,46.485,"HP:0002015,HP:0000712,HP:0002066,HP:0000716","MP:0001392,MP:0001364,MP:0001399,MP:0001415"
+2989,ORPHA:71518,Benign Paroxysmal Torticollis Of Infancy,CACNA1A,Cacna1a<em1(IMPC)H> het early,44.5,"HP:0000741,HP:0000737",MP:0020421
+2990,ORPHA:71526,Obesity Due To Pro-Opiomelanocortin Deficiency,POMC,Pomc<em1(IMPC)Rbrc> het early,28.17,"HP:0000842,HP:0002173",MP:0005293
+2991,ORPHA:71526,Obesity Due To Pro-Opiomelanocortin Deficiency,POMC,Pomc<em1(IMPC)Rbrc> het late,18.19,HP:0001396,"MP:0000691,MP:0000689"
+2992,ORPHA:71528,Obesity Due To Prohormone Convertase I Deficiency,PCSK1,Pcsk1<tm1b(EUCOMM)Wtsi> het early,26.06,HP:0002591,MP:0020420
+2993,ORPHA:721,Gray Platelet Syndrome,NBEAL2,Nbeal2<tm1a(EUCOMM)Wtsi> hom early,59.63,"HP:0001744,HP:0001873,HP:0001872","MP:0003179,MP:0002599,MP:0000218"
+2994,ORPHA:725,Developmental And Epileptic Encephalopathy With Spike-Wave Activation In Sleep,FRRS1L,Frrs1l<tm1b(EUCOMM)Hmgu> hom early,41.285,"HP:0000718,HP:0001332","MP:0001399,MP:0001513"
+2995,ORPHA:730,Autosomal Dominant Polycystic Kidney Disease,DNAJB11,Dnajb11<tm1b(EUCOMM)Wtsi> het early,40.41,"HP:0003259,HP:0011004,HP:0002616,HP:0004944","MP:0010574,MP:0002968"
+2996,ORPHA:730,Autosomal Dominant Polycystic Kidney Disease,PKD1,Pkd1<tm1b(EUCOMM)Hmgu> het early,19.18,HP:0003259,"MP:0005567,MP:0002966"
+2997,ORPHA:730,Autosomal Dominant Polycystic Kidney Disease,BICC1,Bicc1<em1(IMPC)Mbp> het early,30.855,"HP:0003774,HP:0000105,HP:0012213,HP:0000791,HP:0012591,HP:0008672,HP:0012330,HP:0000083,HP:0000107,HP:0000790,HP:0012622,HP:0012592","MP:0002989,MP:0002135"
+2998,ORPHA:730,Autosomal Dominant Polycystic Kidney Disease,BICC1,Bicc1<em1(IMPC)Mbp> hom embryo,20.7,HP:0001634,"MP:0000266,MP:0000269"
+2999,ORPHA:731,Autosomal Recessive Polycystic Kidney Disease,DZIP1L,Dzip1l<em1(IMPC)J> het early,18.22,"HP:0000369,HP:0001959","MP:0002574,MP:0004738"
+3000,ORPHA:731,Autosomal Recessive Polycystic Kidney Disease,DZIP1L,Dzip1l<em1(IMPC)J> hom embryo,26.515,"HP:0000822,HP:0001562,HP:0002239,HP:0001409,HP:0001541","MP:0001914,MP:0001785"
+3001,ORPHA:740,Hutchinson-Gilford Progeria Syndrome,LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,51.765,"HP:0012804,HP:0010505,HP:0000894,HP:0002827,HP:0009839,HP:0007957,HP:0000347,HP:0000855,HP:0002673","MP:0009825,MP:0001312,MP:0002764,MP:0005292"
+3002,ORPHA:742,Prolidase Deficiency,PEPD,Pepd<tm1a(KOMP)Wtsi> hom early,42.16,"HP:0004349,HP:0007703,HP:0002857,HP:0001744","MP:0009923,MP:0008074,MP:0000218,MP:0013772,MP:0005562,MP:0013427,MP:0000063,MP:0010124,MP:0003795,MP:0013514,MP:0010850,MP:0001325,MP:0013430,MP:0008215,MP:0013678,MP:0002932"
+3003,ORPHA:742,Prolidase Deficiency,PEPD,Pepd<tm1b(KOMP)Wtsi> hom early,35.22,"HP:0003272,HP:0004349,HP:0000982,HP:0007703,HP:0001166,HP:0000347,HP:0002857","MP:0010124,MP:0008259,MP:0002764,MP:0001325"
+3004,ORPHA:742,Prolidase Deficiency,PEPD,Pepd<tm1b(KOMP)Wtsi> hom late,25.445,HP:0001744,"MP:0013691,MP:0008168,MP:0008174,MP:0000702"
+3005,ORPHA:746,Mitochondrial Trifunctional Protein Deficiency,HADHB,Hadhb<em1(IMPC)Bay> het early,34.17,HP:0001985,MP:0013278
+3006,ORPHA:75249,Familial Isolated Restrictive Cardiomyopathy,FLNC,Flnc<em1(IMPC)Bay> hom embryo,30.625,"HP:0031295,HP:0031329,HP:0030718,HP:0001639","MP:0000266,MP:0000269"
+3007,ORPHA:753,"46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency",SRD5A2,Srd5a2<em1(IMPC)Mbp> hom early,54.655,"HP:0008736,HP:0000144,HP:0100779,HP:0000033,HP:0000818,HP:0000048,HP:0000046,HP:0000051,HP:0000062,HP:0000028","MP:0001147,MP:0001146"
+3008,ORPHA:758,Pseudoxanthoma Elasticum,ENPP1,Enpp1<em1(IMPC)Ccpcz> hom early,37.62,"HP:0002326,HP:0100817,HP:0000822,HP:0100585,HP:0002239,HP:0004417,HP:0001650,HP:0001681,HP:0000573,HP:0004306,HP:0001723,HP:0000765,HP:0001634,HP:0001382,HP:0001645","MP:0004122,MP:0004609,MP:0000274,MP:0000150,MP:0005333,MP:0010506,MP:0000266"
+3009,ORPHA:75840,Ullrich Congenital Muscular Dystrophy,COL6A3,Col6a3<em1(IMPC)Kmpc> hom early,17.455,HP:0003236,MP:0000182
+3010,ORPHA:763,Pycnodysostosis,CTSK,Ctsk<tm1b(EUCOMM)Hmgu> hom early,52.155,"HP:0011001,HP:0002659,HP:0200055,HP:0008905,HP:0004440,HP:0005789,HP:0001773,HP:0009839,HP:0009381,HP:0100559,HP:0000347,HP:0001382,HP:0003027,HP:0001156,HP:0002866,HP:0010884","MP:0002764,MP:0000062"
+3011,ORPHA:772,Infantile Refsum Disease,PEX3,Pex3<tm1a(EUCOMM)Wtsi> hom early,39.615,"HP:0011675,HP:0000518,HP:0001638,HP:0001508,HP:0010571,HP:0002240","MP:0005179,MP:0005419,MP:0003960,MP:0000183,MP:0001312,MP:0002833,MP:0001262,MP:0005567,MP:0005542,MP:0000186"
+3012,ORPHA:772,Infantile Refsum Disease,PEX26,Pex26<tm1.1(KOMP)Vlcg> het early,22.3,HP:0002240,MP:0000691
+3013,ORPHA:772,Infantile Refsum Disease,PEX6,Pex6<em1(IMPC)Tcp> het early,35.865,"HP:0000648,HP:0000510,HP:0000518","MP:0001312,MP:0006243,MP:0001322"
+3014,ORPHA:772,Infantile Refsum Disease,PEX19,Pex19<em1(IMPC)Bay> het early,29.48,HP:0000518,"MP:0011962,MP:0011959"
+3015,ORPHA:772,Infantile Refsum Disease,PEX1,Pex1<tm1e.1(EUCOMM)Hmgu> het early,44.295,"HP:0011675,HP:0001638,HP:0002240","MP:0005333,MP:0000598,MP:0002753,MP:0005140"
+3016,ORPHA:77259,Gaucher Disease Type 1,SCARB2,Scarb2<em2(IMPC)Tcp> hom early,46.875,"HP:0012223,HP:0000938,HP:0002797,HP:0001744,HP:0032640,HP:0002240,HP:0034336,HP:0002092,HP:0001903,HP:0001433,HP:0000939,HP:0003233,HP:0000790,HP:0001882,HP:0001409,HP:0001876,HP:0003281,HP:0001971,HP:0001873","MP:0003928,MP:0000702,MP:0002591,MP:0003068,MP:0004122,MP:0005505,MP:0000218,MP:0005013,MP:0004156,MP:0010123,MP:0000223,MP:0000219,MP:0005565,MP:0010506"
+3017,ORPHA:77259,Gaucher Disease Type 1,GBA1,Gba1<em1(IMPC)H> het early,28.04,"HP:0001409,HP:0003281,HP:0032640,HP:0003233,HP:0002092","MP:0010392,MP:0008806"
+3018,ORPHA:77259,Gaucher Disease Type 1,GBA1,Gba1<em1(IMPC)H> hom embryo,25.7,HP:0002953,MP:0004174
+3019,ORPHA:77260,Gaucher Disease Type 2,GBA1,Gba1<em1(IMPC)H> het early,25.525,HP:0001695,MP:0010392
+3020,ORPHA:77261,Gaucher Disease Type 3,GBA1,Gba1<em1(IMPC)H> het early,12.71,HP:0002092,MP:0010392
+3021,ORPHA:77297,Majeed Syndrome,LPIN2,Lpin2<tm1b(KOMP)Wtsi> hom early,33.855,"HP:0004840,HP:0004810,HP:0001974,HP:0001744","MP:0002599,MP:0000702,MP:0010067,MP:0002874,MP:0005562,MP:0005642"
+3022,ORPHA:77298,Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome,SOX2,Sox2<em1(IMPC)Mbp> het early,35.045,"HP:0000647,HP:0000612",MP:0001319
+3023,ORPHA:77298,Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome,SOX2,Sox2<em1(IMPC)Mbp> het embryo,17.99,HP:0001510,MP:0003984
+3024,ORPHA:773,Refsum Disease,PHYH,Phyh<tm1b(EUCOMM)Wtsi> hom early,13.555,HP:0001744,"MP:0000219,MP:0005016"
+3025,ORPHA:774,Hereditary Hemorrhagic Telangiectasia,GDF2,Gdf2<tm1.1(KOMP)Vlcg> hom early,25.59,HP:0001903,MP:0002590
+3026,ORPHA:774,Hereditary Hemorrhagic Telangiectasia,ENG,Eng<em1(IMPC)Mbp> het early,14.535,HP:0001903,MP:0000219
+3027,ORPHA:776,Lujan-Fryns Syndrome,UPF3B,Upf3b<em1(IMPC)Tcp> hem early,39.88,"HP:0007018,HP:0100490,HP:0001166,HP:0000053,HP:0001156","MP:0000157,MP:0001399,MP:0000706"
+3028,ORPHA:776,Lujan-Fryns Syndrome,UPF3B,Upf3b<em1(IMPC)Tcp> hom early,40.165,"HP:0000218,HP:0007018,HP:0000053","MP:0020422,MP:0000706,MP:0000470,MP:0002574,MP:0001399"
+3029,ORPHA:779,Reynolds Syndrome,LBR,Lbr<em1(IMPC)Tcp> hom early,18.3,HP:0001369,MP:0000063
+3030,ORPHA:782,Axenfeld-Rieger Syndrome,PITX2,Pitx2<tm1b(EUCOMM)Wtsi> het early,48,"HP:0000691,HP:0000047,HP:0000232,HP:0008053,HP:0000593,HP:0000327,HP:0000627,HP:0000864,HP:0000668","MP:0001147,MP:0001314,MP:0002100,MP:0001319"
+3031,ORPHA:79083,Pparg-Related Familial Partial Lipodystrophy,PPARG,Pparg<tm1b(KOMP)Wtsi> het early,37.09,"HP:0000819,HP:0000831,HP:0100578,HP:0000855,HP:0003635,HP:0000292","MP:0013279,MP:0010024"
+3032,ORPHA:79084,"Familial Partial Lipodystrophy, Köbberling Type",LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,43.87,"HP:0000842,HP:0000855,HP:0000819",MP:0005292
+3033,ORPHA:79085,Akt2-Related Familial Partial Lipodystrophy,AKT2,Akt2<tm1Wcs> hom early,41.68,"HP:0002155,HP:0000855,HP:0000831","MP:0002644,MP:0002078,MP:0000194,MP:0005559,MP:0002968"
+3034,ORPHA:791,Retinitis Pigmentosa,SAG,Sag<tm1a(EUCOMM)Wtsi> hom early,23.785,"HP:0000563,HP:0007787",MP:0004222
+3035,ORPHA:791,Retinitis Pigmentosa,RPE65,Rpe65<tm1a(EUCOMM)Hmgu> hom early,46.645,"HP:0000563,HP:0030610,HP:0008046,HP:0000546,HP:0012426,HP:0007843,HP:0011505,HP:0007703,HP:0001105,HP:0007787,HP:0000543,HP:0007737,HP:0000648","MP:0001317,MP:0006243,MP:0001325"
+3036,ORPHA:791,Retinitis Pigmentosa,PRPF6,Prpf6<tm1.1(KOMP)Vlcg> het early,23.575,HP:0000842,MP:0005560
+3037,ORPHA:791,Retinitis Pigmentosa,FAM161A,Fam161a<tm1b(KOMP)Wtsi> hom early,50.095,"HP:0000563,HP:0030610,HP:0008046,HP:0000546,HP:0012426,HP:0007843,HP:0011505,HP:0007703,HP:0001105,HP:0000543,HP:0007787,HP:0007737,HP:0000648","MP:0010097,MP:0001325,MP:0001303,MP:0008259,MP:0002792"
+3038,ORPHA:791,Retinitis Pigmentosa,KIAA1549,D630045J12Rik<tm1b(KOMP)Wtsi> hom early,23.125,HP:0000842,"MP:0013279,MP:0005292"
+3039,ORPHA:791,Retinitis Pigmentosa,SNRNP200,Snrnp200<tm1b(KOMP)Mbp> het early,29.18,"HP:0030610,HP:0008046,HP:0000546,HP:0012426,HP:0007843,HP:0011505,HP:0007703,HP:0001105,HP:0000543,HP:0007737,HP:0000648",MP:0006243
+3040,ORPHA:791,Retinitis Pigmentosa,CLRN1,Clrn1<tm1.1(KOMP)Vlcg> hom early,19.12,"HP:0012426,HP:0000407,HP:0000543,HP:0000405,HP:0000648",MP:0004738
+3041,ORPHA:791,Retinitis Pigmentosa,DHDDS,Dhdds<tm1b(KOMP)Wtsi> het early,44.305,"HP:0000563,HP:0030610,HP:0008046,HP:0000546,HP:0012426,HP:0007843,HP:0011505,HP:0007703,HP:0001105,HP:0007787,HP:0000543,HP:0007737,HP:0000648","MP:0001303,MP:0011965"
+3042,ORPHA:791,Retinitis Pigmentosa,NEK2,Nek2<tm1b(KOMP)Wtsi> hom early,26.01,"HP:0012426,HP:0000842,HP:0000407,HP:0000543,HP:0000405,HP:0000648","MP:0013279,MP:0004738"
+3043,ORPHA:791,Retinitis Pigmentosa,SPATA7,Spata7<tm1.1(KOMP)Vlcg> hom early,46.215,"HP:0030610,HP:0008046,HP:0000546,HP:0012426,HP:0000842,HP:0007843,HP:0011505,HP:0007703,HP:0001105,HP:0000543,HP:0007737,HP:0000648","MP:0013278,MP:0001325"
+3044,ORPHA:791,Retinitis Pigmentosa,IFT172,Ift172<tm2b(EUCOMM)Hmgu> het early,37.54,"HP:0030610,HP:0008046,HP:0000546,HP:0012426,HP:0007843,HP:0011505,HP:0007703,HP:0001105,HP:0000543,HP:0007737,HP:0000648",MP:0010097
+3045,ORPHA:791,Retinitis Pigmentosa,IFT172,Ift172<tm2b(EUCOMM)Hmgu> hom embryo,24.725,HP:0011505,MP:0001785
+3046,ORPHA:791,Retinitis Pigmentosa,ARL2BP,Arl2bp<em1(IMPC)J> hom early,45.78,"HP:0030610,HP:0008046,HP:0000546,HP:0012426,HP:0007843,HP:0011505,HP:0007703,HP:0001105,HP:0000543,HP:0007737,HP:0000648",MP:0008259
+3047,ORPHA:791,Retinitis Pigmentosa,IDH3B,Idh3b<em1(IMPC)J> hom late,44.505,"HP:0030610,HP:0008046,HP:0000546,HP:0012426,HP:0007843,HP:0011505,HP:0007703,HP:0001105,HP:0000543,HP:0007737,HP:0000648",MP:0001325
+3048,ORPHA:791,Retinitis Pigmentosa,ARHGEF18,Arhgef18<tm1b(KOMP)Mbp> het early,44.875,"HP:0030610,HP:0008046,HP:0000546,HP:0012426,HP:0007843,HP:0011505,HP:0007703,HP:0001105,HP:0000543,HP:0007737,HP:0000648",MP:0001325
+3049,ORPHA:791,Retinitis Pigmentosa,DHX38,Dhx38<em1(IMPC)J> het early,15.01,"HP:0007737,HP:0007703",MP:0002075
+3050,ORPHA:791,Retinitis Pigmentosa,BBS1,Bbs1<em1(IMPC)Mbp> het embryo,25.035,HP:0011505,MP:0001785
+3051,ORPHA:791,Retinitis Pigmentosa,BBS1,Bbs1<em1(IMPC)Mbp> hom embryo,25.085,HP:0011505,MP:0001785
+3052,ORPHA:791,Retinitis Pigmentosa,CRX,Crx<em1(IMPC)Ccpcz> hom early,42.87,"HP:0030610,HP:0008046,HP:0000546,HP:0012426,HP:0000842,HP:0007843,HP:0011505,HP:0007703,HP:0001105,HP:0000543,HP:0007737,HP:0000648","MP:0001147,MP:0013279,MP:0001325"
+3053,ORPHA:791,Retinitis Pigmentosa,TOPORS,Topors<em1(IMPC)J> hom early,38.695,"HP:0000563,HP:0012426,HP:0000842,HP:0000407,HP:0007787,HP:0000543,HP:0000405,HP:0000648","MP:0001304,MP:0001314,MP:0005559,MP:0004738"
+3054,ORPHA:791,Retinitis Pigmentosa,ZNF513,Zfp513<em1(IMPC)J> hom early,23.66,HP:0000842,MP:0005559
+3055,ORPHA:791,Retinitis Pigmentosa,CNGA1,Cnga1<em1(IMPC)Bay> hom early,43.705,"HP:0030610,HP:0008046,HP:0000546,HP:0012426,HP:0007843,HP:0011505,HP:0007703,HP:0001105,HP:0000543,HP:0007737,HP:0000648","MP:0003731,MP:0011965"
+3056,ORPHA:79100,Atrophoderma Vermiculata,LRP1,Lrp1<tm1.1(KOMP)Wtsi> hom embryo,25.47,HP:0012722,MP:0001914
+3057,ORPHA:79101,Hyperprolinemia Type 2,ALDH4A1,Aldh4a1<em1(IMPC)Bay> het early,28.92,HP:0002317,MP:0001392
+3058,ORPHA:79102,Thyrotoxic Periodic Paralysis,CACNA1S,Cacna1s<tm1.1(KOMP)Vlcg> het early,29.675,HP:0011998,MP:0005560
+3059,ORPHA:79102,Thyrotoxic Periodic Paralysis,CACNA1S,Cacna1s<tm1.1(KOMP)Vlcg> hom embryo,26,"HP:0011706,HP:0001337,HP:0001657,HP:0005165,HP:0001663,HP:0001962","MP:0001914,MP:0001491"
+3060,ORPHA:79106,Eiken Syndrome,PTH1R,Pth1r<tm1a(EUCOMM)Hmgu> het early,36.27,"HP:0100671,HP:0002663,HP:0002753,HP:0011849",MP:0010124
+3061,ORPHA:79113,Mandibulofacial Dysostosis-Microcephaly Syndrome,EFTUD2,Eftud2<tm1b(KOMP)Wtsi> het early,19.19,HP:0001631,MP:0010579
+3062,ORPHA:79113,Mandibulofacial Dysostosis-Microcephaly Syndrome,EFTUD2,Eftud2<tm1b(KOMP)Wtsi> het late,22.905,HP:0001631,"MP:0003921,MP:0010580,MP:0002953"
+3063,ORPHA:79134,Dend Syndrome,KCNJ11,Kcnj11<tm1b(EUCOMM)Wtsi> hom early,43.405,"HP:0003074,HP:0040217,HP:0009894","MP:0005293,MP:0002102,MP:0013278,MP:0002874"
+3064,ORPHA:79134,Dend Syndrome,ABCC8,Abcc8<em1(IMPC)J> hom early,26.525,HP:0003074,MP:0005293
+3065,ORPHA:79137,Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome,KCNMA1,Kcnma1<em1(IMPC)H> hom early,42.285,"HP:0007166,HP:0002072",MP:0000745
+3066,ORPHA:79155,Hydroxykynureninuria,KYNU,Kynu<em1(IMPC)J> hom early,31.765,HP:0004365,MP:0005344
+3067,ORPHA:79230,Hjv Or Hamp-Related Hemochromatosis,HJV,Hjv<tm1b(KOMP)Wtsi> hom early,49.01,"HP:0011031,HP:0012463,HP:0001254,HP:0003281","MP:0008810,MP:0020870"
+3068,ORPHA:79233,Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency,HPRT1,Hprt1<tm1a(EUCOMM)Hmgu> hem early,21,"HP:0002149,HP:0003259",MP:0001556
+3069,ORPHA:79239,Classic Galactosemia,GALT,Galt<em1(IMPC)H> hom early,28.035,HP:0001943,MP:0005293
+3070,ORPHA:79240,Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency,PHKB,Phkb<em1(IMPC)J> het early,15.76,HP:0004324,MP:0003961
+3071,ORPHA:79240,Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency,PHKB,Phkb<em1(IMPC)J> hom late,33.81,"HP:0002155,HP:0003124,HP:0003236","MP:0002941,MP:0002968,MP:0005343"
+3072,ORPHA:79242,Holocarboxylase Synthetase Deficiency,HLCS,Hlcs<em1(IMPC)J> het early,19.885,HP:0001987,"MP:0000198,MP:0000195"
+3073,ORPHA:79242,Holocarboxylase Synthetase Deficiency,HLCS,Hlcs<em1(IMPC)J> het late,38.665,"HP:0001254,HP:0001251,HP:0000737,HP:0001596","MP:0001392,MP:0002075,MP:0001417"
+3074,ORPHA:79243,Pyruvate Dehydrogenase E1-Alpha Deficiency,LONP1,Lonp1<tm1b(EUCOMM)Hmgu> het early,20.285,HP:0003542,"MP:0001556,MP:0004151"
+3075,ORPHA:79244,Pyruvate Dehydrogenase E2 Deficiency,DLAT,Dlat<em1(IMPC)J> het early,26.26,HP:0000726,MP:0001417
+3076,ORPHA:79254,Classic Phenylketonuria,PAH,Pah<em1(IMPC)Tcp> het early,36.06,"HP:0002354,HP:0007018,HP:0001268,HP:0002333,HP:0000716",MP:0001417
+3077,ORPHA:79254,Classic Phenylketonuria,PAH,Pah<em1(IMPC)Tcp> hom early,46.53,"HP:0000518,HP:0001010,HP:0005599","MP:0001312,MP:0002075"
+3078,ORPHA:79276,Acute Intermittent Porphyria,HMBS,Hmbs<tm1b(EUCOMM)Hmgu> het early,29.205,"HP:0007024,HP:0000711,HP:0001337,HP:0000716","MP:0001399,MP:0001488"
+3079,ORPHA:79277,Congenital Erythropoietic Porphyria,UROS,Uros<tm1a(EUCOMM)Wtsi> het early,29.955,"HP:0001878,HP:0001882,HP:0011273,HP:0004447,HP:0001873,HP:0001923,HP:0012132,HP:0001744",MP:0000218
+3080,ORPHA:79282,"Methylmalonic Acidemia With Homocystinuria, Type Cblc",MMACHC,Mmachc<tm1.1(NCOM)Mfgc> het early,12.005,"HP:0012120,HP:0002919,HP:0005575,HP:0000083",MP:0002989
+3081,ORPHA:79282,"Methylmalonic Acidemia With Homocystinuria, Type Cblc",MMACHC,Mmachc<tm1.1(NCOM)Mfgc> hom embryo,30.13,"HP:0001789,HP:0001511,HP:0001944","MP:0001697,MP:0001785"
+3082,ORPHA:79284,Methylmalonic Acidemia With Homocystinuria Type Cblf,LMBRD1,Lmbrd1<tm1b(EUCOMM)Hmgu> het early,28.67,"HP:0001875,HP:0001889",MP:0005562
+3083,ORPHA:79284,Methylmalonic Acidemia With Homocystinuria Type Cblf,LMBRD1,Lmbrd1<tm1b(EUCOMM)Hmgu> het embryo,18.6,HP:0001511,MP:0001697
+3084,ORPHA:79299,Congenital Glucokinase-Related Hyperinsulinism,GCK,Gck<em1(IMPC)H> het early,60.375,"HP:0001988,HP:0005978,HP:0001985,HP:0030794,HP:0000825,HP:0008283","MP:0005293,MP:0013279,MP:0002968,MP:0005559"
+3085,ORPHA:79318,Pmm2-Cdg,PMM2,Pmm2<tm1b(EUCOMM)Hmgu> het early,16.46,"HP:0003073,HP:0012509",MP:0005565
+3086,ORPHA:79319,Mpi-Cdg,MPI,Mpi<tm1a(EUCOMM)Wtsi> het early,18.245,HP:0003073,MP:0000194
+3087,ORPHA:79325,Alg8-Cdg,ALG8,Alg8<em1(IMPC)J> het early,29.76,"HP:0001001,HP:0001518,HP:0012385,HP:0001508","MP:0003961,MP:0010024"
+3088,ORPHA:79325,Alg8-Cdg,ALG8,Alg8<em1(IMPC)J> het late,16.05,HP:0002902,"MP:0001556,MP:0005178"
+3089,ORPHA:79325,Alg8-Cdg,ALG8,Alg8<em1(IMPC)J> hom embryo,32.485,HP:0001511,"MP:0003984,MP:0001697"
+3090,ORPHA:79328,Alg9-Cdg,ALG9,Alg9<em1(IMPC)J> het early,30.835,"HP:0009125,HP:0001539",MP:0010024
+3091,ORPHA:79328,Alg9-Cdg,ALG9,Alg9<em1(IMPC)J> het late,27.475,"HP:0000998,HP:0002557,HP:0002162",MP:0002075
+3092,ORPHA:79330,Mogs-Cdg,MOGS,Mogs<tm1(KOMP)Vlcg> het early,33.22,"HP:0001433,HP:0000821,HP:0000034,HP:0002240,HP:0001873,HP:0031218,HP:0010557,HP:0000218","MP:0001944,MP:0002544,MP:0008024,MP:0000467,MP:0000681,MP:0005313,MP:0000709"
+3093,ORPHA:79350,"3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form",PSPH,Psph<tm1.1(KOMP)Vlcg> hom embryo,18.935,HP:0100540,MP:0001785
+3094,ORPHA:79351,"3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form",PHGDH,Phgdh<tm1b(KOMP)Wtsi> het early,27.145,HP:0000519,"MP:0001312,MP:0001314"
+3095,ORPHA:79351,"3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form",PHGDH,Phgdh<tm1b(KOMP)Wtsi> het embryo,22.075,HP:0002305,MP:0001491
+3096,ORPHA:79351,"3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form",PHGDH,Phgdh<tm1b(KOMP)Wtsi> hom embryo,33.87,"HP:0011451,HP:0001537,HP:0000252,HP:0004322,HP:0001511","MP:0001718,MP:0003984,MP:0001700,MP:0001672,MP:0011496,MP:0001697,MP:0003229"
+3097,ORPHA:79394,Congenital Ichthyosiform Erythroderma,ALOXE3,Aloxe3<em1(IMPC)Mbp> het embryo,19.45,HP:0004322,MP:0003984
+3098,ORPHA:79394,Congenital Ichthyosiform Erythroderma,ALOXE3,Aloxe3<em1(IMPC)Mbp> hom embryo,19.805,HP:0004322,MP:0003984
+3099,ORPHA:79394,Congenital Ichthyosiform Erythroderma,ABCA12,Abca12<em1(IMPC)J> hom embryo,16.675,HP:0000365,MP:0002177
+3100,ORPHA:79394,Congenital Ichthyosiform Erythroderma,SDR9C7,Sdr9c7<em1(IMPC)Mbp> het embryo,19.805,HP:0004322,MP:0003984
+3101,ORPHA:79396,"Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form",KRT14,Krt14<tm1.1(KOMP)Vlcg> hom embryo,23.35,"HP:0200097,HP:0010298,HP:0001510,HP:0006297","MP:0003984,MP:0000111"
+3102,ORPHA:79397,Epidermolysis Bullosa Simplex With Mottled Pigmentation,KRT14,Krt14<tm1.1(KOMP)Vlcg> hom embryo,27.63,"HP:0200097,HP:0000164",MP:0000111
+3103,ORPHA:79399,"Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form",KRT14,Krt14<tm1.1(KOMP)Vlcg> hom embryo,28.055,"HP:0200097,HP:0000164",MP:0000111
+3104,ORPHA:794,Saethre-Chotzen Syndrome,TWIST1,Twist1<em1(IMPC)Rbrc> het early,45.085,"HP:0003312,HP:0001199,HP:0010084,HP:0000294,HP:0010720,HP:0001822,HP:0006101,HP:0001837,HP:0005037,HP:0002974,HP:0000327,HP:0004209,HP:0000643,HP:0007598,HP:0002650,HP:0003307,HP:0001156,HP:0011304","MP:0001489,MP:0000572,MP:0002110,MP:0004509,MP:0000579,MP:0005270,MP:0004599,MP:0000137"
+3105,ORPHA:794,Saethre-Chotzen Syndrome,TWIST1,Twist1<em1(IMPC)Rbrc> het late,35.635,"HP:0001199,HP:0010084,HP:0000294,HP:0010720,HP:0006101,HP:0001837,HP:0005037,HP:0002974,HP:0004209,HP:0001822,HP:0007598,HP:0001156,HP:0011304","MP:0000579,MP:0000572,MP:0002110"
+3106,ORPHA:79400,Localized Epidermolysis Bullosa Simplex,KRT14,Krt14<tm1.1(KOMP)Vlcg> hom embryo,26.78,"HP:0200097,HP:0031446",MP:0000111
+3107,ORPHA:79402,Intermediate Generalized Junctional Epidermolysis Bullosa,LAMB3,Lamb3<tm1b(KOMP)Wtsi> hom early,44.295,"HP:0200097,HP:0006297",MP:0002100
+3108,ORPHA:79404,Severe Generalized Junctional Epidermolysis Bullosa,LAMB3,Lamb3<tm1b(KOMP)Wtsi> hom early,31.975,"HP:0006297,HP:0011830,HP:0031446",MP:0002100
+3109,ORPHA:79432,Oculocutaneous Albinism Type 2,MC1R,Mc1r<tm1.1(KOMP)Vlcg> hom early,50.68,"HP:0007730,HP:0005599,HP:0200098,HP:0001010,HP:0007481,HP:0007703,HP:0000635,HP:0011364,HP:0001100,HP:0012805,HP:0001480,HP:0002227,HP:0002226",MP:0002075
+3110,ORPHA:79443,Pseudohypoparathyroidism Type 1A,GNAS,Gnas<tm1Jop> hom early,21.035,"HP:0001266,HP:0012049",MP:0001488
+3111,ORPHA:79444,Pseudohypoparathyroidism Type 1C,GNAS,Gnas<tm1Jop> hom early,20.815,HP:0012049,MP:0001488
+3112,ORPHA:79452,Milroy Disease,ANGPT2,Angpt2<em1(IMPC)Mbp> hom early,30.59,HP:0000034,"MP:0001157,MP:0000703,MP:0000706"
+3113,ORPHA:79473,Variegate Porphyria,PPOX,Ppox<em1(IMPC)J> het early,30.09,"HP:0002902,HP:0012332,HP:0010472","MP:0002941,MP:0004738,MP:0001566"
+3114,ORPHA:79474,Atypical Werner Syndrome,LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,36.615,"HP:0000519,HP:0001763,HP:0000819,HP:0000347,HP:0001838,HP:0008283,HP:0003074,HP:0009771,HP:0000831,HP:0007703,HP:0005978,HP:0001385,HP:0003076,HP:0004279,HP:0005109,HP:0000546,HP:0000842,HP:0008981,HP:0040019","MP:0002764,MP:0001312,MP:0008259,MP:0009825,MP:0005292"
+3115,ORPHA:79476,Griscelli Syndrome Type 1,MYO5A,Myo5a<tm1a(KOMP)Wtsi> hom early,53.385,"HP:0007443,HP:0002216,HP:0007730,HP:0011364","MP:0001312,MP:0002075"
+3116,ORPHA:79477,Griscelli Syndrome Type 2,RAB27A,Rab27a<em1(IMPC)Bay> hom early,48.39,"HP:0007443,HP:0002216,HP:0007730,HP:0005599",MP:0002075
+3117,ORPHA:79478,Griscelli Syndrome Type 3,MYO5A,Myo5a<tm1a(KOMP)Wtsi> hom early,71.15,"HP:0007443,HP:0007730,HP:0005599","MP:0001312,MP:0002075"
+3118,ORPHA:79500,Doors Syndrome,ATP6V1B2,Atp6v1b2<tm1b(KOMP)Wtsi> het early,40.535,"HP:0000851,HP:0008221,HP:0001894","MP:0002768,MP:0002591,MP:0002874,MP:0005562,MP:0005642"
+3119,ORPHA:79644,Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency,KCNJ11,Kcnj11<tm1b(EUCOMM)Wtsi> hom early,40.845,"HP:0001988,HP:0001998,HP:0000825","MP:0013278,MP:0005293"
+3120,ORPHA:803,Amyotrophic Lateral Sclerosis,PFN1,Pfn1<tm1a(EUCOMM)Wtsi> het early,29.645,"HP:0001824,HP:0004326",MP:0001262
+3121,ORPHA:803,Amyotrophic Lateral Sclerosis,FUS,Fus<tm1.1(KOMP)Vlcg> het early,27.965,"HP:0030192,HP:0030196,HP:0030195",MP:0009141
+3122,ORPHA:803,Amyotrophic Lateral Sclerosis,C9orf72,C9orf72<tm1.1(KOMP)Mbp> hom early,15.66,"HP:0001824,HP:0004326",MP:0003960
+3123,ORPHA:803,Amyotrophic Lateral Sclerosis,CHMP2B,Chmp2b<em1(IMPC)Mbp> het early,32.59,"HP:0002015,HP:0000712,HP:0000716",MP:0020420
+3124,ORPHA:803,Amyotrophic Lateral Sclerosis,NEK1,Nek1<em1(IMPC)Bay> hom early,27.355,"HP:0030192,HP:0030196,HP:0030195",MP:0009142
+3125,ORPHA:803,Amyotrophic Lateral Sclerosis,VAPB,Vapb<em1(IMPC)H> hom early,33.08,"HP:0000712,HP:0000716",MP:0005655
+3126,ORPHA:803,Amyotrophic Lateral Sclerosis,TAF15,Taf15<em1(IMPC)Mbp> hom early,31.515,"HP:0002015,HP:0000712,HP:0000716",MP:0020421
+3127,ORPHA:805,Tuberous Sclerosis Complex,IFNG,Ifng<tm1.1(KOMP)Vlcg> het early,28.435,"HP:0011947,HP:0012798",MP:0001175
+3128,ORPHA:805,Tuberous Sclerosis Complex,TSC1,Tsc1<em1(IMPC)Ccpcz> het early,23.935,"HP:0009594,HP:0002897,HP:0002893,HP:0008208,HP:0040030,HP:0002666,HP:0012778","MP:0000703,MP:0000709,MP:0002792"
+3129,ORPHA:808,Seckel Syndrome,CPAP,Cpap<tm1a(EUCOMM)Wtsi> hom early,36.82,"HP:0010579,HP:0001363,HP:0001385,HP:0001852,HP:0000682,HP:0002750,HP:0001382,HP:0004326,HP:0002650,HP:0004209","MP:0003961,MP:0004609,MP:0010024,MP:0001262,MP:0005108,MP:0005296,MP:0000558,MP:0000137,MP:0002932"
+3130,ORPHA:808,Seckel Syndrome,PCNT,Pcnt<em1(IMPC)Mbp> hom embryo,30.375,"HP:0004322,HP:0001511",MP:0003984
+3131,ORPHA:811,Shwachman-Diamond Syndrome,DNAJC21,Dnajc21<tm1.1(NCOM)Mfgc> het early,24.03,"HP:0005871,HP:0006461,HP:0003016,HP:0003025,HP:0001167",MP:0002764
+3132,ORPHA:818,Smith-Lemli-Opitz Syndrome,DHCR7,Dhcr7<em1(IMPC)Mbp> het early,19.16,"HP:0008736,HP:0005264,HP:0000047,HP:0000126,HP:0000074,HP:0000003","MP:0002989,MP:0002135,MP:0000691,MP:0000689"
+3133,ORPHA:818,Smith-Lemli-Opitz Syndrome,DHCR7,Dhcr7<em1(IMPC)Mbp> het embryo,30.595,HP:0008056,MP:0001297
+3134,ORPHA:818,Smith-Lemli-Opitz Syndrome,DHCR7,Dhcr7<em1(IMPC)Mbp> hom embryo,32.88,"HP:0008905,HP:0001510,HP:0010880,HP:0001561,HP:0008056,HP:0004322,HP:0001511","MP:0001297,MP:0003984,MP:0001785"
+3135,ORPHA:819,Smith-Magenis Syndrome,FLII,Flii<tm1b(KOMP)Mbp> het early,19.24,HP:0000069,MP:0002135
+3136,ORPHA:819,Smith-Magenis Syndrome,FLII,Flii<tm1b(KOMP)Mbp> hom embryo,17.785,"HP:0004322,HP:0000823",MP:0003984
+3137,ORPHA:822,Hereditary Spherocytosis,SPTB,Sptb<em1(IMPC)J> het early,46.93,"HP:0001903,HP:0004444,HP:0001978,HP:0005525,HP:0001923,HP:0025548,HP:0001744","MP:0003131,MP:0005562,MP:0002591"
+3138,ORPHA:824,Primary Myelofibrosis,MPL,Mpl<em1(IMPC)Ccpcz> het early,48.265,"HP:0001903,HP:0001433,HP:0001409,HP:0001978,HP:0001876,HP:0004447,HP:0001894,HP:0002716,HP:0001974,HP:0002240,HP:0001873,HP:0001744","MP:0000691,MP:0000689"
+3139,ORPHA:824,Primary Myelofibrosis,MPL,Mpl<em1(IMPC)Ccpcz> hom early,38.4,"HP:0001903,HP:0001433,HP:0001409,HP:0001978,HP:0001876,HP:0004447,HP:0001894,HP:0002716,HP:0001974,HP:0002240,HP:0001873,HP:0001744","MP:0000703,MP:0000709,MP:0000689"
+3140,ORPHA:828,Stickler Syndrome,BMP4,Bmp4<tm1b(EUCOMM)Hmgu> het early,38.735,"HP:0000519,HP:0000518,HP:0000541,HP:0000506,HP:0007992,HP:0031154,HP:0000286,HP:0031153,HP:0001083,HP:0004327,HP:0000554,HP:0000483,HP:0011530","MP:0001322,MP:0003731,MP:0001325,MP:0003733,MP:0008259,MP:0011960,MP:0005176,MP:0011965"
+3141,ORPHA:828,Stickler Syndrome,BMP4,Bmp4<tm1b(EUCOMM)Hmgu> hom embryo,18.88,"HP:0004322,HP:0001634","MP:0003984,MP:0000266"
+3142,ORPHA:83461,Congenital Primary Aphakia,FOXE3,Foxe3<em1(IMPC)Mbp> hom early,54.31,"HP:0000647,HP:0000526,HP:0000568,HP:0011483,HP:0100583,HP:0000667,HP:0008062,HP:0001087,HP:0007707","MP:0001297,MP:0001314,MP:0001293"
+3143,ORPHA:83463,Microtia,HOXA2,Hoxa2<tm1b(EUCOMM)Wtsi> het early,21.845,"HP:0040119,HP:0000413,HP:0008551,HP:0000377,HP:0008589,HP:0009892",MP:0004738
+3144,ORPHA:83469,Desmoplastic Small Round Cell Tumor,EWSR1,Ewsr1<tm1b(EUCOMM)Wtsi> het early,18.61,HP:0001903,"MP:0005013,MP:0000218"
+3145,ORPHA:83469,Desmoplastic Small Round Cell Tumor,EWSR1,Ewsr1<tm1b(EUCOMM)Wtsi> het embryo,28.17,HP:0001541,MP:0001785
+3146,ORPHA:83469,Desmoplastic Small Round Cell Tumor,EWSR1,Ewsr1<tm1b(EUCOMM)Wtsi> hom embryo,28.17,HP:0001541,MP:0001785
+3147,ORPHA:83471,T-Cell Immunodeficiency With Thymic Aplasia,FOXN1,Foxn1<tm1.1(KOMP)Vlcg> hom early,58.1,"HP:0031397,HP:0005359,HP:0100646,HP:0000821,HP:0004844,HP:0005403,HP:0002716","MP:0000703,MP:0000705"
+3148,ORPHA:83472,Camos Syndrome,ZNF592,Zfp592<em1(IMPC)Bay> het early,33.895,HP:0000648,"MP:0003731,MP:0011965"
+3149,ORPHA:84,Fanconi Anemia,MAD2L2,Mad2l2<tm1a(EUCOMM)Wtsi> het early,21.085,"HP:0003022,HP:0001199,HP:0002817,HP:0006265,HP:0006501,HP:0006101,HP:0100760,HP:0002823,HP:0040071,HP:0004209,HP:0001770,HP:0001172",MP:0000574
+3150,ORPHA:84,Fanconi Anemia,PALB2,Palb2<tm1.1(KOMP)Vlcg> het early,13.045,"HP:0000864,HP:0000135",MP:0002079
+3151,ORPHA:84,Fanconi Anemia,FANCL,Fancl<tm1b(EUCOMM)Hmgu> hom early,36.545,"HP:0001903,HP:0007565,HP:0001537,HP:0004349,HP:0001053,HP:0001824,HP:0001000,HP:0007400,HP:0005522,HP:0001873,HP:0001882","MP:0005011,MP:0003961,MP:0000063,MP:0010124,MP:0003795,MP:0010024,MP:0002075,MP:0002606"
+3152,ORPHA:84,Fanconi Anemia,BRIP1,Brip1<em1(IMPC)J> hom early,40.825,"HP:0000483,HP:0001903,HP:0000518,HP:0008053,HP:0005522,HP:0001873,HP:0001882","MP:0002590,MP:0003179,MP:0001304"
+3153,ORPHA:84,Fanconi Anemia,BRIP1,Brip1<em1(IMPC)J> hom late,22.48,"HP:0003022,HP:0001199,HP:0007565,HP:0001053,HP:0006265,HP:0006501,HP:0006101,HP:0100760,HP:0002823,HP:0040071,HP:0004209,HP:0001770,HP:0001000,HP:0007400,HP:0001172","MP:0002075,MP:0012000"
+3154,ORPHA:84,Fanconi Anemia,FANCD2,Fancd2<em1(IMPC)Hmgu> het early,15.64,"HP:0100587,HP:0000047,HP:0000072,HP:0000083",MP:0002989
+3155,ORPHA:84,Fanconi Anemia,ERCC4,Ercc4<em1(IMPC)J> hom embryo,32.27,"HP:0000568,HP:0008053",MP:0001293
+3156,ORPHA:84,Fanconi Anemia,FANCF,Fancf<em1(IMPC)J> hom early,32.215,"HP:0000483,HP:0001903,HP:0001639,HP:0000518,HP:0008053,HP:0005522,HP:0001873,HP:0001882","MP:0002590,MP:0001314,MP:0005561,MP:0012121,MP:0005542"
+3157,ORPHA:84064,Syndromic Diarrhea,SKIC2,Skic2<tm2b(EUCOMM)Wtsi> het early,26.48,HP:0011031,"MP:0003020,MP:0005568"
+3158,ORPHA:84064,Syndromic Diarrhea,SKIC3,Skic3<em1(IMPC)Tcp> het early,28.675,"HP:0000778,HP:0011031,HP:0011877,HP:0001888,HP:0000089,HP:0000113,HP:0001894,HP:0002240,HP:0001744","MP:0011874,MP:0005627,MP:0005641"
+3159,ORPHA:84081,Senior-Boichis Syndrome,TMEM67,Tmem67<em1(IMPC)J> het early,22.705,"HP:0000718,HP:0007018,HP:0000713",MP:0001415
+3160,ORPHA:85112,Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome,RSPO1,Rspo1<tm1.1(KOMP)Vlcg> hom early,24.485,HP:0012245,"MP:0001147,MP:0001146"
+3161,ORPHA:85166,"Platyspondylic Dysplasia, Torrance Type",COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,27.48,"HP:0000926,HP:0000272","MP:0000160,MP:0000455"
+3162,ORPHA:85166,"Platyspondylic Dysplasia, Torrance Type",COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,45.965,"HP:0006487,HP:0009882,HP:0001561,HP:0001773,HP:0003090,HP:0002983,HP:0003021,HP:0001789,HP:0000175,HP:0004279,HP:0001191,HP:0002970","MP:0002109,MP:0009908,MP:0000111,MP:0001785"
+3163,ORPHA:85193,Idiopathic Juvenile Osteoporosis,WNT3A,Wnt3a<em1(IMPC)Ccpcz> het early,46.635,"HP:0002953,HP:0000939,HP:0002653,HP:0002808,HP:0002757","MP:0004599,MP:0003036,MP:0000137,MP:0004609"
+3164,ORPHA:85198,Dysspondyloenchondromatosis,COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,47.52,"HP:0000926,HP:0003422,HP:0002650,HP:0002879,HP:0002751",MP:0000160
+3165,ORPHA:85198,Dysspondyloenchondromatosis,COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,16.135,"HP:0004039,HP:0002857,HP:0002991,HP:0005868",MP:0002109
+3166,ORPHA:85212,Fetal Gaucher Disease,GBA1,Gba1<em1(IMPC)H> het early,19.88,"HP:0002908,HP:0002170","MP:0010392,MP:0008806"
+3167,ORPHA:85212,Fetal Gaucher Disease,GBA1,Gba1<em1(IMPC)H> hom early,24.595,"HP:0003811,HP:0003826",MP:0011100
+3168,ORPHA:85277,"X-Linked Intellectual Disability, Cantagrel Type",NEXMIF,Nexmif<em1(IMPC)Tcp> hem early,26.29,HP:0000733,MP:0001399
+3169,ORPHA:85277,"X-Linked Intellectual Disability, Cantagrel Type",NEXMIF,Nexmif<em1(IMPC)Tcp> het early,27.69,HP:0000733,MP:0001399
+3170,ORPHA:85279,Kdm5C-Related Syndromic X-Linked Intellectual Disability,KDM5C,Kdm5c<tm1d(EUCOMM)Hmgu> het early,19.17,HP:0002232,MP:0000367
+3171,ORPHA:85288,"X-Linked Intellectual Disability, Stocco Dos Santos Type",SHROOM4,Shroom4<tm1.1(NCOM)Mfgc> hem early,37.96,HP:0000518,MP:0001314
+3172,ORPHA:853,Fetal And Neonatal Alloimmune Thrombocytopenia,ITGA2,Itga2<tm1b(EUCOMM)Hmgu> hom early,26.91,HP:0100021,MP:0000745
+3173,ORPHA:853,Fetal And Neonatal Alloimmune Thrombocytopenia,CD109,Cd109<tm1.1(KOMP)Vlcg> hom early,44.41,"HP:0002239,HP:0002170,HP:0001892,HP:0000967,HP:0000979,HP:0002249,HP:0007420,HP:0031364,HP:0002138,HP:0012541",MP:0006203
+3174,ORPHA:853,Fetal And Neonatal Alloimmune Thrombocytopenia,GP1BB,Gp1bb<tm1.1(KOMP)Vlcg> hom early,43.24,HP:0004809,"MP:0002590,MP:0003179,MP:0002599"
+3175,ORPHA:85329,X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome,AP1S2,Ap1s2<em1(IMPC)Mbp> hom early,33.98,"HP:0000718,HP:0001288",MP:0002574
+3176,ORPHA:85335,Fried Syndrome,AP1S2,Ap1s2<em1(IMPC)Mbp> hem early,31.905,HP:0000587,MP:0006243
+3177,ORPHA:85335,Fried Syndrome,AP1S2,Ap1s2<em1(IMPC)Mbp> hom early,43.085,"HP:0000587,HP:0000718,HP:0001288","MP:0002574,MP:0001325"
+3178,ORPHA:85408,Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis,PTPN2,Ptpn2<tm1a(EUCOMM)Wtsi> het early,28.285,"HP:0001903,HP:0001433",MP:0005564
+3179,ORPHA:85408,Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis,IL2RA,Il2ra<tm1b(EUCOMM)Wtsi> hom early,42.885,"HP:0001369,HP:0008843,HP:0100686,HP:0001903,HP:0001433,HP:0003319,HP:0040313,HP:0001371,HP:0100769,HP:0002716,HP:0005086,HP:0001387","MP:0002875,MP:0000702,MP:0002591,MP:0002874,MP:0012362,MP:0005562,MP:0000063,MP:0000689,MP:0005642,MP:0005016,MP:0000219,MP:0000208,MP:0000137"
+3180,ORPHA:85408,Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis,IL2RB,Il2rb<tm1b(EUCOMM)Hmgu> hom early,22.655,"HP:0001155,HP:0011911,HP:0003019,HP:0001832",MP:0000572
+3181,ORPHA:85410,Oligoarticular Juvenile Idiopathic Arthritis,IL2RA,Il2ra<tm1b(EUCOMM)Wtsi> hom early,19.43,"HP:0001369,HP:0040313,HP:0001370,HP:0001382,HP:0005086",MP:0000063
+3182,ORPHA:85410,Oligoarticular Juvenile Idiopathic Arthritis,STAT4,Stat4<em1(IMPC)Mbp> hom early,43.915,"HP:0000585,HP:0000518,HP:0007833","MP:0001304,MP:0001314"
+3183,ORPHA:861,Treacher-Collins Syndrome,POLR1C,Polr1c<em1(IMPC)J> het early,35.63,"HP:0000612,HP:0000518",MP:0001304
+3184,ORPHA:861,Treacher-Collins Syndrome,POLR1C,Polr1c<em1(IMPC)J> het late,22.415,"HP:0000643,HP:0009554,HP:0000294,HP:0000561","MP:0000367,MP:0001284,MP:0001513,MP:0001523,MP:0002075"
+3185,ORPHA:861,Treacher-Collins Syndrome,POLR1B,Polr1b<em1(IMPC)Tcp> het early,43.425,"HP:0000689,HP:0000347,HP:0000272,HP:0000162,HP:0006482,HP:0005990,HP:0010807,HP:0009804,HP:0000682,HP:0000278,HP:0000327,HP:0000175,HP:0000028,HP:0008736,HP:0000204,HP:0000160,HP:0000154,HP:0000164,HP:0010669,HP:0000778,HP:0000218","MP:0003068,MP:0000709,MP:0000702,MP:0002100"
+3186,ORPHA:861,Treacher-Collins Syndrome,POLR1B,Polr1b<em1(IMPC)Tcp> het late,32.015,"HP:0008736,HP:0005990,HP:0000778,HP:0000028","MP:0011874,MP:0000709"
+3187,ORPHA:86814,Benign Adult Familial Myoclonic Epilepsy,YEATS2,Yeats2<em1(IMPC)J> het late,39.765,HP:0002378,"MP:0001513,MP:0001523"
+3188,ORPHA:86818,Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome,ACSL4,Acsl4<tm1a(EUCOMM)Wtsi> hem early,29.92,"HP:0001182,HP:0000944",MP:0000558
+3189,ORPHA:86818,Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome,ACSL4,Acsl4<tm1a(EUCOMM)Wtsi> het early,20.03,HP:0004445,MP:0003179
+3190,ORPHA:86820,Familial Avascular Necrosis Of Femoral Head,COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,16.31,"HP:0003366,HP:0008812",MP:0002109
+3191,ORPHA:86884,Subcutaneous Panniculitis-Like T-Cell Lymphoma,HAVCR2,Havcr2<tm1b(KOMP)Wtsi> hom early,36.77,"HP:0001433,HP:0012156",MP:0004952
+3192,ORPHA:869,Triple A Syndrome,GMPPA,Gmppa<em1(IMPC)Tcp> hom early,34.645,"HP:0001251,HP:0001097,HP:0012804","MP:0002574,MP:0001314"
+3193,ORPHA:869,Triple A Syndrome,TRAPPC11,Trappc11<em1(IMPC)J> het early,18.045,"HP:0000407,HP:0000648",MP:0004738
+3194,ORPHA:873,Desmoid Tumor,CTNNB1,Ctnnb1<Bfc> het early,34.275,"HP:0001376,HP:0002797","MP:0002896,MP:0010123,MP:0000062"
+3195,ORPHA:87503,Mal De Meleda,SLURP1,Slurp1<tm1b(EUCOMM)Hmgu> hom early,22.795,HP:0001371,MP:0000063
+3196,ORPHA:88,Idiopathic Aplastic Anemia,IFNG,Ifng<tm1.1(KOMP)Vlcg> het early,37.965,"HP:0001903,HP:0001896,HP:0001876,HP:0001875,HP:0001873",MP:0002608
+3197,ORPHA:88,Idiopathic Aplastic Anemia,PRF1,Prf1<tm1.1(KOMP)Vlcg> hom early,39.835,"HP:0001903,HP:0001896,HP:0001876,HP:0001875,HP:0001873",MP:0005642
+3198,ORPHA:882,Tyrosinemia Type 1,FAH,Fah<em1(IMPC)Mbp> het early,56.17,"HP:0006554,HP:0002909,HP:0001402,HP:0002240,HP:0001744","MP:0002989,MP:0002135,MP:0000601,MP:0003068,MP:0000598,MP:0000689,MP:0000691"
+3199,ORPHA:88635,Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates,CASQ1,Casq1<tm1b(EUCOMM)Wtsi> hom early,44.235,HP:0003236,"MP:0005568,MP:0005554"
+3200,ORPHA:88637,Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome,POLR1C,Polr1c<em1(IMPC)J> het late,30.605,HP:0001251,MP:0001523
+3201,ORPHA:891,Familial Exudative Vitreoretinopathy,CTNNB1,Ctnnb1<Bfc> het early,38.46,HP:0004349,"MP:0002896,MP:0010123,MP:0000062"
+3202,ORPHA:891,Familial Exudative Vitreoretinopathy,FZD4,Fzd4<tm1.1(KOMP)Vlcg> hom embryo,38.01,"HP:0040049,HP:0001004",MP:0001785
+3203,ORPHA:893,Wagr Syndrome,PAX6,Pax6<em1(IMPC)Mbp> het early,35.405,"HP:0000518,HP:0008053","MP:0001297,MP:0001314,MP:0001293,MP:0005542"
+3204,ORPHA:893,Wagr Syndrome,PAX6,Pax6<em1(IMPC)Mbp> het embryo,27.765,HP:0008053,MP:0001297
+3205,ORPHA:893,Wagr Syndrome,PAX6,Pax6<em1(IMPC)Mbp> hom embryo,30.28,"HP:0008053,HP:0000232","MP:0000111,MP:0001293"
+3206,ORPHA:895,Waardenburg Syndrome Type 2,SNAI2,Snai2<tm1.1(KOMP)Vlcg> hom early,58.03,"HP:0005599,HP:0001053,HP:0002216,HP:0002211,HP:0001100","MP:0000367,MP:0002075"
+3207,ORPHA:89838,Autosomal Recessive Generalized Epidermolysis Bullosa Simplex,KRT14,Krt14<tm1.1(KOMP)Vlcg> hom embryo,24.36,HP:0200097,MP:0000111
+3208,ORPHA:89844,"Lissencephaly Syndrome, Norman-Roberts Type",RELN,Reln<em1(IMPC)Mbp> het early,29.235,HP:0006270,"MP:0002339,MP:0000702"
+3209,ORPHA:899,Walker-Warburg Syndrome,RXYLT1,Rxylt1<em1(IMPC)J> het early,33.195,"HP:0000587,HP:0007973,HP:0000556,HP:0000541,HP:0007731,HP:0000648",MP:0010097
+3210,ORPHA:899,Walker-Warburg Syndrome,POMK,Pomk<em1(IMPC)Hmgu> het early,15.215,HP:0008736,MP:0002135
+3211,ORPHA:89936,X-Linked Hypophosphatemia,PHEX,Phex<not yet available> hom early,60.095,"HP:0100686,HP:0008144,HP:0001363,HP:0004349,HP:0003127,HP:0002748,HP:0005789,HP:0001369,HP:0012449,HP:0006432,HP:0002148,HP:0003856,HP:0006490,HP:0003416,HP:0002857,HP:0001376,HP:0002979,HP:0002970,HP:0006487,HP:0008117,HP:0005930,HP:0008442,HP:0002869","MP:0002896,MP:0005627,MP:0000198,MP:0000195,MP:0008805,MP:0002968,MP:0005108,MP:0000552,MP:0004599,MP:0000558,MP:0000137,MP:0002932"
+3212,ORPHA:89937,Autosomal Dominant Hypophosphatemic Rickets,FGF23,Fgf23<em1(IMPC)Ccpcz> het early,39.755,"HP:0002148,HP:0002901,HP:0001891","MP:0003020,MP:0004151,MP:0005565,MP:0000689"
+3213,ORPHA:90045,Hereditary Folate Malabsorption,SLC46A1,Slc46a1<tm1b(KOMP)Mbp> het early,17.345,HP:0000010,MP:0011435
+3214,ORPHA:90153,Mandibuloacral Dysplasia With Type A Lipodystrophy,LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,36.09,"HP:0006710,HP:0009882,HP:0000518,HP:0009839,HP:0000855,HP:0001870","MP:0009825,MP:0001312,MP:0002764,MP:0005292"
+3215,ORPHA:902,Werner Syndrome,WRN,Wrn<em1(IMPC)Ccpcz> hom early,33.72,"HP:0000035,HP:0010468,HP:0000135,HP:0100615","MP:0004832,MP:0001126"
+3216,ORPHA:90307,Parkes Weber Syndrome,RASA1,Rasa1<tm1b(EUCOMM)Hmgu> het early,16.58,HP:0031138,MP:0000198
+3217,ORPHA:90321,Cockayne Syndrome Type 1,ERCC4,Ercc4<em1(IMPC)J> hom embryo,46.89,HP:0000528,MP:0001293
+3218,ORPHA:90321,Cockayne Syndrome Type 1,ERCC8,Ercc8<em1(IMPC)H> hom early,28.41,"HP:0003138,HP:0001251,HP:0001288","MP:0001556,MP:0001392,MP:0005178"
+3219,ORPHA:90322,Cockayne Syndrome Type 2,ERCC8,Ercc8<em1(IMPC)H> hom early,28.865,"HP:0001251,HP:0001288",MP:0001392
+3220,ORPHA:90324,Cockayne Syndrome Type 3,ERCC8,Ercc8<em1(IMPC)H> hom early,25.29,"HP:0002317,HP:0001288",MP:0001392
+3221,ORPHA:90340,Blau Syndrome,NOD2,Nod2<em1(IMPC)Mbp> hom early,37.41,"HP:0001744,HP:0002716,HP:0001392,HP:0010286","MP:0001146,MP:0001944,MP:0002339,MP:0000702"
+3222,ORPHA:90349,Autosomal Recessive Cutis Laxa Type 1,LTBP1,Ltbp1<tm1a(EUCOMM)Wtsi> hom early,24.105,"HP:0002827,HP:0002756,HP:0001382,HP:0032153,HP:0006698","MP:0002833,MP:0000552,MP:0004609,MP:0005108"
+3223,ORPHA:90354,Brittle Cornea Syndrome,PRDM5,Prdm5<em1(IMPC)Tcp> hom early,23.97,"HP:0000407,HP:0000405,HP:0000541","MP:0004738,MP:0008259"
+3224,ORPHA:90354,Brittle Cornea Syndrome,ZNF469,Zfp469<em1(IMPC)Mbp> hom early,32.565,"HP:0100689,HP:0001131,HP:0001119,HP:0000559,HP:0000541,HP:0000407,HP:0000405,HP:0200020","MP:0001304,MP:0002699,MP:0004738"
+3225,ORPHA:904,Williams Syndrome,BAZ1B,Baz1b<tm2a(KOMP)Wtsi> het early,26.565,"HP:0003119,HP:0001531,HP:0001513,HP:0001337,HP:0002150,HP:0003236,HP:0003072","MP:0005179,MP:0001486,MP:0003019,MP:0001262,MP:0005567,MP:0000186"
+3226,ORPHA:904,Williams Syndrome,BAZ1B,Baz1b<tm2a(KOMP)Wtsi> hom early,24.79,"HP:0001531,HP:0001513",MP:0001262
+3227,ORPHA:904,Williams Syndrome,VPS37D,Vps37d<tm2b(EUCOMM)Wtsi> het early,23.085,"HP:0002141,HP:0001310,HP:0001136,HP:0001251,HP:0001288","MP:0003733,MP:0001402,MP:0011965"
+3228,ORPHA:904,Williams Syndrome,VPS37D,Vps37d<tm2b(EUCOMM)Wtsi> het embryo,21.625,HP:0001337,MP:0001491
+3229,ORPHA:904,Williams Syndrome,VPS37D,Vps37d<tm2b(EUCOMM)Wtsi> hom embryo,21.93,"HP:0000023,HP:0001337","MP:0003385,MP:0001491"
+3230,ORPHA:904,Williams Syndrome,EIF4H,Eif4h<tm1b(EUCOMM)Wtsi> het early,23.83,"HP:0001629,HP:0001631,HP:0001639,HP:0001642,HP:0001671,HP:0001647,HP:0004306,HP:0001136,HP:0001636,HP:0001634,HP:0001640,HP:0002623","MP:0003733,MP:0003731,MP:0000280,MP:0011965"
+3231,ORPHA:904,Williams Syndrome,EIF4H,Eif4h<tm1b(EUCOMM)Wtsi> hom embryo,22.9,"HP:0100817,HP:0000822,HP:0001635,HP:0001537,HP:0003298,HP:0004381,HP:0001639,HP:0001642,HP:0002637,HP:0001658,HP:0001645,HP:0001653,HP:0004322","MP:0003984,MP:0001697,MP:0001914"
+3232,ORPHA:904,Williams Syndrome,FKBP6,Fkbp6<tm1b(KOMP)Wtsi> hom early,23.27,HP:0001337,MP:0001513
+3233,ORPHA:904,Williams Syndrome,STX1A,Stx1a<tm1b(EUCOMM)Hmgu> hom early,17.21,HP:0001136,MP:0011965
+3234,ORPHA:904,Williams Syndrome,DNAJC30,Dnajc30<tm1.1(KOMP)Vlcg> hom early,45,"HP:0003119,HP:0002150,HP:0005978,HP:0003236,HP:0003072","MP:0005292,MP:0013279,MP:0000194,MP:0005568"
+3235,ORPHA:904,Williams Syndrome,BUD23,Bud23<em2(IMPC)H> het early,22.46,HP:0005978,MP:0005560
+3236,ORPHA:904,Williams Syndrome,NCF1,Ncf1<em1(IMPC)Mbp> hom early,35.395,"HP:0007018,HP:0000787,HP:0000093,HP:0005562,HP:0000075,HP:0002141,HP:0001310,HP:0100025,HP:0000716,HP:0000121,HP:0001288,HP:0100817,HP:0000076,HP:0000010,HP:0000722,HP:0002150,HP:0001640,HP:0001251,HP:0008736,HP:0000015,HP:0008661,HP:0000014,HP:0000089,HP:0000083,HP:0001969,HP:0000125","MP:0002135,MP:0001364,MP:0003068,MP:0001402,MP:0020870"
+3237,ORPHA:904,Williams Syndrome,NCF1,Ncf1<em1(IMPC)Mbp> hom late,38.38,"HP:0002205,HP:0000787,HP:0000093,HP:0005562,HP:0000075,HP:0000125,HP:0003119,HP:0000121,HP:0100817,HP:0000076,HP:0001631,HP:0001647,HP:0001634,HP:0002623,HP:0003072,HP:0000010,HP:0001639,HP:0001642,HP:0001671,HP:0002150,HP:0001640,HP:0003236,HP:0001081,HP:0008736,HP:0001629,HP:0000015,HP:0008661,HP:0000014,HP:0004306,HP:0000089,HP:0000083,HP:0001969,HP:0001636,HP:0004969","MP:0002989,MP:0002135,MP:0001175,MP:0003604,MP:0000689,MP:0008725,MP:0000691,MP:0000186,MP:0000266"
+3238,ORPHA:904,Williams Syndrome,CLIP2,Clip2<em1(IMPC)Ccpcz> hom early,40.185,"HP:0000938,HP:0011001,HP:0001631,HP:0001647,HP:0001634,HP:0002623,HP:0000044,HP:0000147,HP:0001639,HP:0001642,HP:0001671,HP:0000939,HP:0001640,HP:0000028,HP:0001081,HP:0008736,HP:0001629,HP:0004306,HP:0001636,HP:0000826","MP:0002397,MP:0000703,MP:0002059,MP:0000689,MP:0003795,MP:0002631,MP:0000274,MP:0000709,MP:0000266"
+3239,ORPHA:904,Williams Syndrome,GTF2IRD1,Gtf2ird1<em1(IMPC)Ccpcz> hom early,38.73,"HP:0000179,HP:0003119,HP:0000670,HP:0000689,HP:0002141,HP:0001310,HP:0000347,HP:0000668,HP:0001288,HP:0006482,HP:0001531,HP:0001136,HP:0003072,HP:0000158,HP:0010807,HP:0000147,HP:0001513,HP:0000232,HP:0002150,HP:0000682,HP:0003236,HP:0001251,HP:0000028,HP:0001081,HP:0000691,HP:0000154,HP:0000212,HP:0000343,HP:0010669","MP:0000692,MP:0000703,MP:0001402,MP:0002100,MP:0010097,MP:0001325,MP:0000689,MP:0008259,MP:0001262,MP:0002968,MP:0000709,MP:0002792,MP:0000455"
+3240,ORPHA:90647,Jervell And Lange-Nielsen Syndrome,KCNE1,Kcne1<tm1b(EUCOMM)Hmgu> hom early,31.245,"HP:0008619,HP:0001891,HP:0011476","MP:0002590,MP:0000220,MP:0004738,MP:0005016,MP:0000219"
+3241,ORPHA:90653,Stickler Syndrome Type 1,COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,51.83,"HP:0000926,HP:0000327,HP:0100734","MP:0005270,MP:0000160,MP:0000455"
+3242,ORPHA:90653,Stickler Syndrome Type 1,COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,44.78,"HP:0000175,HP:0001634,HP:0000343","MP:0000111,MP:0009908,MP:0000266"
+3243,ORPHA:90654,Stickler Syndrome Type 2,COL11A1,Col11a1<em1(IMPC)Bay> hom embryo,48.525,HP:0000175,"MP:0000111,MP:0009908"
+3244,ORPHA:90793,Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency,CYP17A1,Cyp17a1<tm1b(EUCOMM)Wtsi> hom early,43.46,"HP:0000138,HP:0008730,HP:0000054,HP:0000151,HP:0008689,HP:0000033,HP:0010465,HP:0008163,HP:0000047,HP:0000048,HP:0003351,HP:0001508,HP:0000026,HP:0032362,HP:0002900,HP:0040314","MP:0003961,MP:0000198,MP:0005178,MP:0009204,MP:0005553,MP:0009198,MP:0002968,MP:0001556,MP:0005565"
+3245,ORPHA:90796,"46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency",CYP17A1,Cyp17a1<tm1b(EUCOMM)Wtsi> hom early,42.935,"HP:0008730,HP:0000054,HP:0000147,HP:0012112,HP:0000033,HP:0004349,HP:0000047,HP:0000939,HP:0008734,HP:0012244,HP:0001508,HP:0008726,HP:0000037,HP:0008675,HP:0000815,HP:0000013,HP:0000028","MP:0003961,MP:0000063,MP:0005178,MP:0010124,MP:0003795,MP:0009204,MP:0009198,MP:0001556"
+3246,ORPHA:909,Cerebrotendinous Xanthomatosis,CYP27A1,Cyp27a1<tm1.1(KOMP)Vlcg> hom early,17.785,"HP:0006579,HP:0001081",MP:0002981
+3247,ORPHA:91,Aromatase Deficiency,CYP19A1,Cyp19a1<tm1b(EUCOMM)Hmgu> hom early,32.81,"HP:0003782,HP:0003077,HP:0001513","MP:0002965,MP:0003961,MP:0002966,MP:0005178,MP:0005565"
+3248,ORPHA:91,Aromatase Deficiency,CYP19A1,Cyp19a1<tm1b(EUCOMM)Hmgu> hom late,27.57,"HP:0005978,HP:0003077,HP:0000855","MP:0002966,MP:0004151,MP:0013279,MP:0005565,MP:0005343"
+3249,ORPHA:912,Zellweger Syndrome,PEX3,Pex3<tm1a(EUCOMM)Wtsi> hom early,42.86,"HP:0001629,HP:0000518,HP:0002240,HP:0001508,HP:0001088,HP:0007957,HP:0000627,HP:0010655","MP:0003960,MP:0000062,MP:0002833,MP:0001312,MP:0010123,MP:0001262,MP:0005542"
+3250,ORPHA:912,Zellweger Syndrome,PEX26,Pex26<tm1.1(KOMP)Vlcg> het early,20.965,"HP:0000952,HP:0002240",MP:0000691
+3251,ORPHA:912,Zellweger Syndrome,PEX6,Pex6<em1(IMPC)Tcp> het early,42.235,"HP:0000518,HP:0000532,HP:0001088,HP:0007957,HP:0000627,HP:0000648","MP:0001312,MP:0006243,MP:0001322"
+3252,ORPHA:912,Zellweger Syndrome,PEX19,Pex19<em1(IMPC)Bay> het early,36.91,"HP:0100543,HP:0000518,HP:0001088,HP:0007957,HP:0000627","MP:0011962,MP:0011959,MP:0001417"
+3253,ORPHA:912,Zellweger Syndrome,PEX1,Pex1<tm1e.1(EUCOMM)Hmgu> het early,26.7,"HP:0000952,HP:0001629,HP:0002240,HP:0001399","MP:0000598,MP:0002753"
+3254,ORPHA:91347,Tsh-Secreting Pituitary Adenoma,CDH23,Cdh23<tm2b(EUCOMM)Wtsi> hom early,33.005,"HP:0000938,HP:0000939,HP:0001337,HP:0001824,HP:0002900","MP:0003960,MP:0005633,MP:0000195,MP:0003019,MP:0010123,MP:0001523,MP:0006358"
+3255,ORPHA:91387,Familial Thoracic Aortic Aneurysm And Aortic Dissection,PRKG1,Prkg1<tm1b(KOMP)Wtsi> het early,38.975,"HP:0001647,HP:0001640",MP:0000274
+3256,ORPHA:91387,Familial Thoracic Aortic Aneurysm And Aortic Dissection,PRKG1,Prkg1<tm1b(KOMP)Wtsi> hom early,18.555,"HP:0001640,HP:0002705","MP:0003271,MP:0000691"
+3257,ORPHA:91387,Familial Thoracic Aortic Aneurysm And Aortic Dissection,TGFBR2,Tgfbr2<em1(IMPC)Rbrc> het early,39.885,"HP:0001647,HP:0001640","MP:0003068,MP:0000274,MP:0000266"
+3258,ORPHA:91387,Familial Thoracic Aortic Aneurysm And Aortic Dissection,FOXE3,Foxe3<em1(IMPC)Mbp> hom early,24.04,HP:0000525,MP:0001314
+3259,ORPHA:91387,Familial Thoracic Aortic Aneurysm And Aortic Dissection,LOX,Lox<em1(IMPC)Mbp> het early,23.665,HP:0002650,MP:0002759
+3260,ORPHA:91387,Familial Thoracic Aortic Aneurysm And Aortic Dissection,ACTA2,Acta2<em1(IMPC)H> hom early,29.145,"HP:0001647,HP:0001640",MP:0002834
+3261,ORPHA:91387,Familial Thoracic Aortic Aneurysm And Aortic Dissection,FBN1,Fbn1<em1(IMPC)H> het early,17.175,HP:0001640,MP:0004952
+3262,ORPHA:915,Aarskog-Scott Syndrome,FGD1,Fgd1<em1(IMPC)Tcp> hem embryo,19.915,"HP:0004322,HP:0001537","MP:0003984,MP:0001697"
+3263,ORPHA:915,Aarskog-Scott Syndrome,FGD1,Fgd1<em1(IMPC)Tcp> het early,14.645,HP:0000028,MP:0000709
+3264,ORPHA:920,Ablepharon Macrostomia Syndrome,TWIST2,Twist2<tm1.1(KOMP)Vlcg> het early,22.985,"HP:0008736,HP:0003187,HP:0000062,HP:0000055","MP:0001147,MP:0001146"
+3265,ORPHA:93110,Posterior Urethral Valve,BNC2,Bnc2<tm1b(KOMP)Wtsi> het early,20.685,HP:0001254,MP:0001417
+3266,ORPHA:93160,Hypocalcemic Vitamin D-Resistant Rickets,VDR,Vdr<em1(IMPC)Hmgu> hom early,50.43,"HP:0002749,HP:0002970,HP:0003272,HP:0003330,HP:0012062,HP:0000944,HP:0002797,HP:0001596,HP:0100670,HP:0002857,HP:0002757,HP:0001288","MP:0001406,MP:0000367,MP:0002764,MP:0001402,MP:0000063,MP:0002757,MP:0010124,MP:0003795,MP:0001392,MP:0002075"
+3267,ORPHA:93271,"Short Rib-Polydactyly Syndrome, Verma-Naumoff Type",IFT80,Ift80<tm1a(KOMP)Wtsi> het early,28.24,"HP:0001773,HP:0009106,HP:0000944,HP:0002983,HP:0001177,HP:0004279,HP:0001162","MP:0005108,MP:0000552"
+3268,ORPHA:93271,"Short Rib-Polydactyly Syndrome, Verma-Naumoff Type",IFT80,Ift80<tm1a(KOMP)Wtsi> hom early,28.82,"HP:0001773,HP:0009106,HP:0000944,HP:0001177,HP:0004279,HP:0001162",MP:0004509
+3269,ORPHA:93271,"Short Rib-Polydactyly Syndrome, Verma-Naumoff Type",DYNC2I1,Dync2i1<em1(IMPC)Tcp> het early,28.635,"HP:0008736,HP:0008716,HP:0002023,HP:0000126,HP:0000089,HP:0002032,HP:0004397,HP:0000107,HP:0010297","MP:0011874,MP:0000470"
+3270,ORPHA:93271,"Short Rib-Polydactyly Syndrome, Verma-Naumoff Type",DYNC2I1,Dync2i1<em1(IMPC)Tcp> hom embryo,13.785,HP:0008873,MP:0003984
+3271,ORPHA:93271,"Short Rib-Polydactyly Syndrome, Verma-Naumoff Type",WDR35,Wdr35<em1(IMPC)Hmgu> het early,18.1,"HP:0008736,HP:0008716,HP:0000126,HP:0000089,HP:0000107",MP:0002135
+3272,ORPHA:93296,Achondrogenesis Type 2,COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,28.86,"HP:0004605,HP:0030290,HP:0031096",MP:0000160
+3273,ORPHA:93296,Achondrogenesis Type 2,COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,44.135,"HP:0002983,HP:0000969,HP:0008828,HP:0000201","MP:0002109,MP:0009908,MP:0000111,MP:0001785"
+3274,ORPHA:93298,Achondrogenesis Type 1B,SLC26A2,Slc26a2<em1(IMPC)Bay> hom embryo,26.98,"HP:0002983,HP:0001773,HP:0000343,HP:0001762","MP:0002109,MP:0009908"
+3275,ORPHA:93307,Multiple Epiphyseal Dysplasia Type 4,SLC26A2,Slc26a2<em1(IMPC)Bay> hom embryo,30.87,"HP:0001762,HP:0006429,HP:0005922,HP:0008829,HP:0100864,HP:0001156,HP:0010049,HP:0004002,HP:0003016,HP:0009778,HP:0001440,HP:0004037,HP:0001831,HP:0008905,HP:0009471,HP:0009381,HP:0001776,HP:0009487,HP:0010743,HP:0002857,HP:0003031,HP:0000175,HP:0002812,HP:0002986,HP:0009824,HP:0000218,HP:0031878,HP:0040072","MP:0002109,MP:0009908"
+3276,ORPHA:93315,"Spondylometaphyseal Dysplasia, 'Corner Fracture' Type",COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,37.645,"HP:0008440,HP:0003468,HP:0004625,HP:0002945,HP:0002948,HP:0000470,HP:0008422,HP:0004586,HP:0000926,HP:0003300,HP:0002650,HP:0008417,HP:0002938,HP:0001891","MP:0000220,MP:0000160,MP:0000689"
+3277,ORPHA:93315,"Spondylometaphyseal Dysplasia, 'Corner Fracture' Type",COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,31.825,"HP:0002982,HP:0002812,HP:0003908,HP:0009882,HP:0005743,HP:0009824,HP:0000218,HP:0000164,HP:0030084,HP:0002857,HP:0003025,HP:0006385,HP:0002970","MP:0002109,MP:0009908,MP:0000111"
+3278,ORPHA:93316,"Spondylometaphyseal Dysplasia, Schmidt Type",COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,43.44,"HP:0000926,HP:0000347,HP:0002650,HP:0000925,HP:0002751","MP:0005270,MP:0000160,MP:0000455"
+3279,ORPHA:93316,"Spondylometaphyseal Dysplasia, Schmidt Type",COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,39.505,"HP:0002812,HP:0000185,HP:0100255,HP:0001561,HP:0000944,HP:0002857,HP:0100864,HP:0010574","MP:0002109,MP:0009908,MP:0000111,MP:0001785"
+3280,ORPHA:93346,"Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type",COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,37.81,"HP:0003468,HP:0000670,HP:0100569,HP:0000926,HP:0000347,HP:0008462","MP:0005270,MP:0000160,MP:0000455"
+3281,ORPHA:93346,"Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type",COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,43.945,"HP:0000162,HP:0003015,HP:0045060,HP:0000670,HP:0001216","MP:0002109,MP:0009908,MP:0000111"
+3282,ORPHA:93356,"Spondyloepimetaphyseal Dysplasia, Missouri Type",MMP13,Mmp13<em1(IMPC)Ccpcz> hom early,52.94,"HP:0003015,HP:0003071,HP:0002982,HP:0010585,HP:0003025,HP:0002980,HP:0005086,HP:0006385,HP:0002970",MP:0002764
+3283,ORPHA:93384,Brachydactyly Type C,GDF5,Gdf5<em1(IMPC)H> hom early,50.565,"HP:0009684,HP:0009495,HP:0010579,HP:0009606,HP:0005819,HP:0009773,HP:0010743,HP:0010508,HP:0009373,HP:0004209,HP:0009465,HP:0010026","MP:0000556,MP:0000572,MP:0000062,MP:0002110,MP:0003795,MP:0000550"
+3284,ORPHA:93384,Brachydactyly Type C,BMPR1B,Bmpr1b<em1(IMPC)Mbp> hom early,30.565,"HP:0009684,HP:0009495,HP:0009606,HP:0005819,HP:0009773,HP:0010743,HP:0010508,HP:0009373,HP:0004209,HP:0009465,HP:0010026","MP:0003795,MP:0000572"
+3285,ORPHA:93384,Brachydactyly Type C,GDF5,Gdf5<em1(IMPC)Bay> hom early,18.67,HP:0009684,MP:0003795
+3286,ORPHA:93388,Brachydactyly Type A1,GDF5,Gdf5<em1(IMPC)H> hom early,44.845,"HP:0003022,HP:0010579,HP:0001762,HP:0001773,HP:0005819,HP:0009778,HP:0010109,HP:0004209,HP:0001230,HP:0001204","MP:0000556,MP:0000572,MP:0000062,MP:0002110,MP:0000550"
+3287,ORPHA:93388,Brachydactyly Type A1,BMPR1B,Bmpr1b<em1(IMPC)Mbp> hom early,32.615,"HP:0003022,HP:0001762,HP:0001773,HP:0005819,HP:0009778,HP:0010109,HP:0004209,HP:0001230,HP:0001204",MP:0000572
+3288,ORPHA:93396,Brachydactyly Type A2,GDF5,Gdf5<em1(IMPC)H> hom early,48.245,"HP:0001773,HP:0010038,HP:0004220,HP:0005819,HP:0009568,HP:0004209,HP:0009372","MP:0000550,MP:0000572,MP:0000556,MP:0002110"
+3289,ORPHA:93396,Brachydactyly Type A2,BMPR1B,Bmpr1b<em1(IMPC)Mbp> hom early,29.805,"HP:0001773,HP:0010038,HP:0004220,HP:0005819,HP:0009568,HP:0004209,HP:0009372",MP:0000572
+3290,ORPHA:93405,Syndactyly Type 4,SHH,Shh<tm1b(EUCOMM)Wtsi> het early,13.075,HP:0100490,MP:0010024
+3291,ORPHA:93473,Hurler Syndrome,IDUA,Idua<em1(IMPC)Hmgu> hom early,43.28,"HP:0040129,HP:0100790,HP:0000574,HP:0100490,HP:0100021,HP:0000431,HP:0007957,HP:0000488,HP:0007256,HP:0000365,HP:0002313","MP:0000745,MP:0005287,MP:0000443,MP:0001325,MP:0001312,MP:0004738,MP:0010025,MP:0002792,MP:0011965"
+3292,ORPHA:93474,Scheie Syndrome,IDUA,Idua<em1(IMPC)Hmgu> hom early,41.765,"HP:0040129,HP:0100021,HP:0000407,HP:0007957,HP:0002313","MP:0000745,MP:0001312,MP:0004738"
+3293,ORPHA:93476,Hurler-Scheie Syndrome,IDUA,Idua<em1(IMPC)Hmgu> hom early,45.485,"HP:0040129,HP:0100790,HP:0000407,HP:0007957,HP:0007256","MP:0000745,MP:0001312,MP:0004738,MP:0010025"
+3294,ORPHA:93552,Pediatric Systemic Lupus Erythematosus,STAT4,Stat4<em1(IMPC)Mbp> hom early,14.79,"HP:0000093,HP:0000100,HP:0000123,HP:0000083,HP:0040319,HP:0000790","MP:0002989,MP:0002135"
+3295,ORPHA:93921,Full Schwannomatosis,COQ6,Coq6<tm1b(EUCOMM)Hmgu> het early,30.885,HP:0000518,MP:0001312
+3296,ORPHA:93924,Lobar Holoprosencephaly,SHH,Shh<tm1Chg> het early,21.865,HP:0002451,"MP:0001513,MP:0001488"
+3297,ORPHA:93924,Lobar Holoprosencephaly,DLL1,Dll1<tm1Gos> het early,37.825,"HP:0002020,HP:0002451,HP:0007018,HP:0005968,HP:0002015,HP:0002013,HP:0002540,HP:0000737,HP:0001508,HP:0000716,HP:0002019,HP:0000741,HP:0001254","MP:0001362,MP:0002862,MP:0002757,MP:0001262,MP:0012311,MP:0001399,MP:0005534"
+3298,ORPHA:93924,Lobar Holoprosencephaly,NODAL,Nodal<tm1Rob> het early,21.365,HP:0002451,MP:0001486
+3299,ORPHA:93924,Lobar Holoprosencephaly,FGFR1,Fgfr1<tm1.1(KOMP)Vlcg> hom embryo,16.58,"HP:0004322,HP:0045005,HP:0001510","MP:0003984,MP:0001697"
+3300,ORPHA:93924,Lobar Holoprosencephaly,SHH,Shh<tm1b(EUCOMM)Wtsi> het early,14.3,"HP:0001371,HP:0001508","MP:0003961,MP:0010024"
+3301,ORPHA:93924,Lobar Holoprosencephaly,NODAL,Nodal<tm1b(EUCOMM)Wtsi> het early,28.145,"HP:0031860,HP:0002540,HP:0001254","MP:0001402,MP:0005542"
+3302,ORPHA:93925,Alobar Holoprosencephaly,SHH,Shh<tm1Chg> het early,21.865,HP:0002451,"MP:0001513,MP:0001488"
+3303,ORPHA:93925,Alobar Holoprosencephaly,DLL1,Dll1<tm1Gos> het early,37.825,"HP:0002020,HP:0002451,HP:0007018,HP:0005968,HP:0002015,HP:0002013,HP:0002540,HP:0000737,HP:0001508,HP:0000716,HP:0002019,HP:0000741,HP:0001254","MP:0001362,MP:0002862,MP:0002757,MP:0001262,MP:0012311,MP:0001399,MP:0005534"
+3304,ORPHA:93925,Alobar Holoprosencephaly,NODAL,Nodal<tm1Rob> het early,21.365,HP:0002451,MP:0001486
+3305,ORPHA:93925,Alobar Holoprosencephaly,SHH,Shh<tm1b(EUCOMM)Wtsi> het early,14.3,"HP:0001371,HP:0001508","MP:0003961,MP:0010024"
+3306,ORPHA:93925,Alobar Holoprosencephaly,NODAL,Nodal<tm1b(EUCOMM)Wtsi> het early,28.145,"HP:0031860,HP:0002540,HP:0001254","MP:0001402,MP:0005542"
+3307,ORPHA:93926,Midline Interhemispheric Variant Of Holoprosencephaly,SHH,Shh<tm1Chg> het early,21.865,HP:0002451,"MP:0001513,MP:0001488"
+3308,ORPHA:93926,Midline Interhemispheric Variant Of Holoprosencephaly,DLL1,Dll1<tm1Gos> het early,37.825,"HP:0002020,HP:0002451,HP:0007018,HP:0005968,HP:0002015,HP:0002013,HP:0002540,HP:0000737,HP:0001508,HP:0000716,HP:0002019,HP:0000741,HP:0001254","MP:0001362,MP:0002862,MP:0002757,MP:0001262,MP:0012311,MP:0001399,MP:0005534"
+3309,ORPHA:93926,Midline Interhemispheric Variant Of Holoprosencephaly,NODAL,Nodal<tm1Rob> het early,21.365,HP:0002451,MP:0001486
+3310,ORPHA:93926,Midline Interhemispheric Variant Of Holoprosencephaly,SHH,Shh<tm1b(EUCOMM)Wtsi> het early,14.3,"HP:0001371,HP:0001508","MP:0003961,MP:0010024"
+3311,ORPHA:93926,Midline Interhemispheric Variant Of Holoprosencephaly,NODAL,Nodal<tm1b(EUCOMM)Wtsi> het early,28.145,"HP:0031860,HP:0002540,HP:0001254","MP:0001402,MP:0005542"
+3312,ORPHA:94064,Deafness-Infertility Syndrome,CATSPER2,Catsper2<em1(IMPC)Mbp> hom early,73.525,"HP:0003251,HP:0000027",MP:0001925
+3313,ORPHA:94068,Spondyloepiphyseal Dysplasia Congenita,COL2A1,Col2a1<em1(IMPC)Ccpcz> het early,46.68,"HP:0003306,HP:0003418,HP:0000470,HP:0100569,HP:0000926,HP:0000347,HP:0002650,HP:0002808,HP:0002938,HP:0008462","MP:0005270,MP:0000160,MP:0000455"
+3314,ORPHA:94068,Spondyloepiphyseal Dysplasia Congenita,COL2A1,Col2a1<em1(IMPC)Ccpcz> hom embryo,41.48,"HP:0000162,HP:0045060,HP:0009824,HP:0003097,HP:0002857,HP:0000175,HP:0100864,HP:0010575","MP:0002109,MP:0009908,MP:0000111"
+3315,ORPHA:94089,Pseudohypoparathyroidism Type 1B,GNAS,Gnas<tm1Jop> hom early,22.9,HP:0012049,MP:0001488
+3316,ORPHA:94089,Pseudohypoparathyroidism Type 1B,STX16,Stx16<tm1b(KOMP)Wtsi> hom early,47.27,"HP:0011001,HP:0002901,HP:0002199,HP:0003034,HP:0000737,HP:0000716,HP:0005700,HP:0002905,HP:0003472","MP:0002941,MP:0005627,MP:0005419,MP:0005344,MP:0010123,MP:0002968,MP:0020870,MP:0001415,MP:0001399"
+3317,ORPHA:941,D-Glyceric Aciduria,GLYCTK,Glyctk<em1(IMPC)J> hom early,19.555,"HP:0002154,HP:0030781,HP:0008288",MP:0002968
+3318,ORPHA:952,"Acrofacial Dysostosis, Weyers Type",EVC2,Evc2<em1(IMPC)Mbp> hom early,39.99,"HP:0000164,HP:0006288,HP:0000190,HP:0000698,HP:0000668,HP:0006315",MP:0030610
+3319,ORPHA:95433,Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome,PEX6,Pex6<em1(IMPC)Tcp> het early,26.615,"HP:0000648,HP:0000524,HP:0002346","MP:0001312,MP:0006243,MP:0001322"
+3320,ORPHA:95494,"Combined Pituitary Hormone Deficiencies, Genetic Forms",HESX1,Hesx1<em1(IMPC)J> hom embryo,33.84,"HP:0009099,HP:0000609,HP:0100842","MP:0000111,MP:0008797,MP:0001293"
+3321,ORPHA:95496,Pituitary Stalk Interruption Syndrome,WDR11,Wdr11<em1(IMPC)Mbp> het late,28.51,"HP:0008736,HP:0001943","MP:0003068,MP:0002135,MP:0005292"
+3322,ORPHA:95496,Pituitary Stalk Interruption Syndrome,WDR11,Wdr11<em1(IMPC)Mbp> hom early,22.41,"HP:0000786,HP:0100842","MP:0001925,MP:0001293"
+3323,ORPHA:95496,Pituitary Stalk Interruption Syndrome,WDR11,Wdr11<em1(IMPC)Mbp> hom late,41.62,"HP:0000823,HP:0000821,HP:0011755,HP:0000835,HP:0000873,HP:0000864,HP:0000028",MP:0005313
+3324,ORPHA:95496,Pituitary Stalk Interruption Syndrome,HESX1,Hesx1<em1(IMPC)J> hom embryo,18.83,HP:0100842,MP:0001293
+3325,ORPHA:95702,X-Linked Adrenal Hypoplasia Congenita,NR0B1,Nr0b1<em2(IMPC)Wtsi> hem early,41.815,"HP:0000798,HP:0008163,HP:0008734,HP:0002902,HP:0000044,HP:0002153","MP:0002965,MP:0010092,MP:0008810,MP:0000182,MP:0002160,MP:0002968"
+3326,ORPHA:95706,Non-Syndromic Posterior Hypospadias,MAMLD1,Mamld1<tm1.1(NCOM)Mfgc> hom early,20.635,"HP:0001518,HP:0000776,HP:0001539","MP:0003961,MP:0010024"
+3327,ORPHA:95716,Familial Thyroid Dyshormonogenesis,SLC5A5,Slc5a5<tm1b(KOMP)Wtsi> hom early,35.825,"HP:0008828,HP:0025483,HP:0000407,HP:0003265,HP:0001254","MP:0001556,MP:0000063,MP:0001417,MP:0004738,MP:0002968,MP:0001415,MP:0005178,MP:0001399"
+3328,ORPHA:95716,Familial Thyroid Dyshormonogenesis,SLC5A5,Slc5a5<tm1b(KOMP)Wtsi> hom late,22.56,HP:0001254,MP:0001417
+3329,ORPHA:95716,Familial Thyroid Dyshormonogenesis,DUOXA2,Duoxa2<tm1b(KOMP)Wtsi> hom early,39.725,"HP:0000853,HP:0031220,HP:0008828,HP:0025483,HP:0031219,HP:0001537,HP:0000851,HP:0025482,HP:0005930,HP:0000407,HP:0031507,HP:0002925,HP:0008263,HP:0003265,HP:0000270","MP:0002965,MP:0005568,MP:0000559,MP:0010024,MP:0000182,MP:0008805,MP:0005108,MP:0005478,MP:0005565,MP:0001556,MP:0005178,MP:0002932,MP:0008810,MP:0005298,MP:0003795,MP:0005553,MP:0010025,MP:0000558,MP:0000194,MP:0005633,MP:0000063,MP:0010124,MP:0004738,MP:0000552,MP:0005296"
+3330,ORPHA:95716,Familial Thyroid Dyshormonogenesis,TG,Tg<em1(IMPC)J> hom early,47.275,"HP:0008828,HP:0001254,HP:0001662","MP:0001402,MP:0001417,MP:0002757,MP:0010123,MP:0010506"
+3331,ORPHA:95716,Familial Thyroid Dyshormonogenesis,DUOX2,Duox2<em1(IMPC)Mbp> hom early,37.355,"HP:0003265,HP:0006579,HP:0025483,HP:0001254","MP:0002965,MP:0000194,MP:0020421,MP:0000601,MP:0000692,MP:0005568,MP:0000598,MP:0001417,MP:0005178,MP:0000689,MP:0005553,MP:0001556,MP:0000691"
+3332,ORPHA:96147,Kleefstra Syndrome Due To 9Q34 Microdeletion,EHMT1,Ehmt1<tm1b(EUCOMM)Hmgu> het early,34.38,"HP:0001513,HP:0000737,HP:0001508,HP:0000716,HP:0000741","MP:0002797,MP:0001363,MP:0003960,MP:0001417"
+3333,ORPHA:96184,Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14,DLK1,Dlk1<em1(IMPC)Wtsi> hom early,29.595,"HP:0001513,HP:0004904,HP:0001518,HP:0001956","MP:0003961,MP:0005560"
+3334,ORPHA:96253,Cushing Disease,CDH23,Cdh23<tm2b(EUCOMM)Wtsi> hom early,34.12,"HP:0000819,HP:0000939,HP:0004324,HP:0001888,HP:0012743,HP:0025383,HP:0001956,HP:0040270,HP:0001974,HP:0031891","MP:0013278,MP:0003960,MP:0005561,MP:0010123,MP:0010025,MP:0005560,MP:0000221"
+3335,ORPHA:96253,Cushing Disease,TP53,Trp53<tm1b(EUCOMM)Hmgu> hom early,19.55,HP:0007807,"MP:0001289,MP:0001325"
+3336,ORPHA:963,Acromegaly,GPR101,Gpr101<tm1b(KOMP)Mbp> hem early,26.41,"HP:0000716,HP:0012452","MP:0001364,MP:0020870"
+3337,ORPHA:96334,Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14,DLK1,Dlk1<em1(IMPC)Wtsi> hom early,16.905,"HP:0001371,HP:0001433,HP:0004299,HP:0001520,HP:0001539,HP:0012385,HP:0001220","MP:0003961,MP:0005561,MP:0010024"
+3338,ORPHA:968,"Acromesomelic Dysplasia, Hunter-Thompson Type",GDF5,Gdf5<em1(IMPC)H> hom early,47.455,"HP:0100543,HP:0008368,HP:0010049,HP:0003086,HP:0002827,HP:0006014,HP:0009778,HP:0001387,HP:0002644,HP:0003042,HP:0001156,HP:0006011,HP:0007598","MP:0000556,MP:0000572,MP:0000062,MP:0001417,MP:0002110,MP:0000550"
+3339,ORPHA:969,Acromicric Dysplasia,LTBP3,Ltbp3<em1(IMPC)Ccpcz> hom early,43.81,"HP:0000179,HP:0200055,HP:0010049,HP:0000160,HP:0005930,HP:0000343,HP:0003300,HP:0002823,HP:0004279,HP:0001156,HP:0005900","MP:0013129,MP:0002764,MP:0002100,MP:0000160,MP:0004174"
+3340,ORPHA:97244,Rigid Spine Syndrome,SELENON,Selenon<tm1a(KOMP)Wtsi> hom early,35.83,"HP:0003306,HP:0002987,HP:0003273,HP:0003089,HP:0002650,HP:0003307",MP:0004609
+3341,ORPHA:97286,Carney-Stratakis Syndrome,SDHC,Sdhc<tm1a(EUCOMM)Wtsi> het early,23.15,HP:0001824,MP:0001260
+3342,ORPHA:97297,Bohring-Opitz Syndrome,ASXL1,Asxl1<tm1a(EUCOMM)Wtsi> het early,24.845,"HP:0001373,HP:0002803,HP:0006471,HP:0001105,HP:0005487,HP:0012453,HP:0000648,HP:0001376,HP:0003049","MP:0006243,MP:0004609"
+3343,ORPHA:974,Adams-Oliver Syndrome,DOCK6,Dock6<em1(IMPC)J> het early,27.64,"HP:0001873,HP:0001882","MP:0003131,MP:0005564"
+3344,ORPHA:974,Adams-Oliver Syndrome,ARHGAP31,Arhgap31<em1(IMPC)Bay> het embryo,13.915,HP:0002084,MP:0001697
+3345,ORPHA:974,Adams-Oliver Syndrome,ARHGAP31,Arhgap31<em1(IMPC)Bay> hom embryo,29.22,"HP:0001541,HP:0002239,HP:0002092,HP:0001409","MP:0001914,MP:0001785"
+3346,ORPHA:98,Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay,SACS,Sacs<em1(IMPC)Tcp> het early,13.005,HP:0000020,MP:0002135
+3347,ORPHA:98673,"Autosomal Dominant Optic Atrophy, Classic Form",DNM1L,Dnm1l<tm1b(KOMP)Wtsi> het early,45.735,"HP:0000648,HP:0012511,HP:0025514,HP:0000518","MP:0002699,MP:0001312,MP:0008259,MP:0001289"
+3348,ORPHA:98758,Spinocerebellar Ataxia Type 6,CACNA1A,Cacna1a<em1(IMPC)H> het early,26.995,"HP:0030842,HP:0002015",MP:0020421
+3349,ORPHA:98768,Spinocerebellar Ataxia Type 13,KCNC3,Kcnc3<em1(IMPC)J> hom early,19.53,HP:0002015,MP:0001399
+3350,ORPHA:98768,Spinocerebellar Ataxia Type 13,KCNC3,Kcnc3<em1(IMPC)J> hom late,26.06,"HP:0002015,HP:0002070,HP:0002066,HP:0001288","MP:0002574,MP:0001399"
+3351,ORPHA:98768,Spinocerebellar Ataxia Type 13,KCNC3,Kcnc3<em1(IMPC)Bay> hom early,19.53,HP:0002015,MP:0001399
+3352,ORPHA:98772,Spinocerebellar Ataxia Type 19/22,KCND3,Kcnd3<em1(IMPC)J> hom early,33.765,"HP:0002070,HP:0002078,HP:0002136,HP:0001251,HP:0001288","MP:0002574,MP:0001402"
+3353,ORPHA:98772,Spinocerebellar Ataxia Type 19/22,KCND3,Kcnd3<em1(IMPC)J> hom late,29.39,"HP:0002070,HP:0002078,HP:0002136,HP:0001251,HP:0001288",MP:0002574
+3354,ORPHA:98773,Spinocerebellar Ataxia Type 21,TMEM240,Tmem240<em1(IMPC)Ccpcz> hom early,51.215,"HP:0100543,HP:0002071,HP:0001337,HP:0002073,HP:0002066,HP:0002304,HP:0002063","MP:0000745,MP:0001392,MP:0001415"
+3355,ORPHA:98784,Autosomal Dominant Nocturnal Frontal Lobe Epilepsy,CABP4,Cabp4<tm1.1(KOMP)Vlcg> hom early,39.455,"HP:0000716,HP:0007018,HP:0000733",MP:0001399
+3356,ORPHA:98784,Autosomal Dominant Nocturnal Frontal Lobe Epilepsy,KCNT1,Kcnt1<em1(IMPC)Mbp> hom early,34.98,"HP:0000716,HP:0007018,HP:0000020,HP:0000733","MP:0002989,MP:0002135,MP:0001364,MP:0020870"
+3357,ORPHA:98784,Autosomal Dominant Nocturnal Frontal Lobe Epilepsy,CHRNA2,Chrna2<em1(IMPC)Mbp> hom early,12.785,HP:0000020,"MP:0002989,MP:0002135"
+3358,ORPHA:98794,Angelman Syndrome Due To Maternal 15Q11Q13 Deletion,UBE3A,Ube3a<em1(IMPC)Hmgu> het early,41.82,"HP:0100023,HP:0000748,HP:0000752,HP:0002015,HP:0002141,HP:0100738,HP:0100703,HP:0002136,HP:0001251","MP:0001402,MP:0011940"
+3359,ORPHA:98794,Angelman Syndrome Due To Maternal 15Q11Q13 Deletion,UBE3A,Ube3a<em1(IMPC)Hmgu> hom early,48.985,"HP:0100023,HP:0000748,HP:0000752,HP:0002015,HP:0002141,HP:0100738,HP:0100703,HP:0002136,HP:0001251,HP:0000736","MP:0001402,MP:0001417,MP:0002757,MP:0011940,MP:0001399"
+3360,ORPHA:98795,Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15,UBE3A,Ube3a<em1(IMPC)Hmgu> het early,35.635,"HP:0002136,HP:0002141,HP:0002015,HP:0100703","MP:0001402,MP:0011940"
+3361,ORPHA:98795,Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15,UBE3A,Ube3a<em1(IMPC)Hmgu> hom early,36.65,"HP:0002136,HP:0002141,HP:0002015,HP:0100703","MP:0002757,MP:0001399,MP:0001402,MP:0011940"
+3362,ORPHA:98809,Paroxysmal Kinesigenic Dyskinesia,PRRT2,Prrt2<tm1b(KOMP)Wtsi> hom early,36.735,"HP:0002356,HP:0002305,HP:0001332",MP:0001489
+3363,ORPHA:98810,Paroxysmal Non-Kinesigenic Dyskinesia,PRRT2,Prrt2<tm1b(KOMP)Wtsi> hom early,34.56,"HP:0001266,HP:0001332,HP:0000473",MP:0001489
+3364,ORPHA:98811,Paroxysmal Exertion-Induced Dyskinesia,PRRT2,Prrt2<tm1b(KOMP)Wtsi> hom early,33.555,"HP:0001266,HP:0001304,HP:0001332",MP:0001489
+3365,ORPHA:98849,Systemic Mastocytosis With Associated Hematologic Neoplasm,ASXL1,Asxl1<tm1a(EUCOMM)Wtsi> het early,36.4,"HP:0004808,HP:0012325,HP:0012324,HP:0001880,HP:0000939,HP:0005550,HP:0001974,HP:0002653,HP:0001895,HP:0001873,HP:0005547,HP:0031807,HP:0011897,HP:0002659,HP:0001897,HP:0100494,HP:0001744","MP:0002591,MP:0002874,MP:0004609,MP:0005562,MP:0010123,MP:0000208"
+3366,ORPHA:98850,Aggressive Systemic Mastocytosis,ASXL1,Asxl1<tm1a(EUCOMM)Wtsi> het early,41.48,"HP:0002039,HP:0001903,HP:0031408,HP:0001433,HP:0000939,HP:0001876,HP:0001974,HP:0002797,HP:0002756,HP:0002653,HP:0001909,HP:0001875,HP:0001971,HP:0001873,HP:0100494","MP:0002591,MP:0002874,MP:0004609,MP:0005562,MP:0010123,MP:0000208,MP:0001399"
+3367,ORPHA:98850,Aggressive Systemic Mastocytosis,CBL,Cbl<tm1b(EUCOMM)Hmgu> het early,17.675,"HP:0002615,HP:0002239,HP:0001409",MP:0003896
+3368,ORPHA:98853,Autosomal Dominant Emery-Dreifuss Muscular Dystrophy,LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,14.88,"HP:0008956,HP:0001771",MP:0002764
+3369,ORPHA:98853,Autosomal Dominant Emery-Dreifuss Muscular Dystrophy,SYNE2,Syne2<em1(IMPC)J> hom early,38.22,"HP:0004631,HP:0030051,HP:0001513,HP:0002987,HP:0002515,HP:0009125,HP:0001771,HP:0001288","MP:0001392,MP:0003960,MP:0010025"
+3370,ORPHA:98855,Autosomal Recessive Emery-Dreifuss Muscular Dystrophy,LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,15.325,"HP:0008956,HP:0002600,HP:0001771",MP:0002764
+3371,ORPHA:98856,Charcot-Marie-Tooth Disease Type 2B1,LMNA,Lmna<tm1b(EUCOMM)Wtsi> het early,33.395,"HP:0011916,HP:0003447,HP:0001761,HP:0003390,HP:0007249,HP:0003387,HP:0007002,HP:0009053,HP:0001765,HP:0008956,HP:0009049,HP:0001760,HP:0040078,HP:0007078,HP:0003431,HP:0003380","MP:0008259,MP:0002764"
+3372,ORPHA:98863,X-Linked Emery-Dreifuss Muscular Dystrophy,FHL1,Fhl1<tm1a(EUCOMM)Wtsi> hom early,29.09,"HP:0002155,HP:0003236,HP:0003141",MP:0005179
+3373,ORPHA:98863,X-Linked Emery-Dreifuss Muscular Dystrophy,EMD,Emd<em1(IMPC)Kmpc> hem early,19.09,"HP:0002155,HP:0003236,HP:0003141",MP:0001566
+3374,ORPHA:98863,X-Linked Emery-Dreifuss Muscular Dystrophy,EMD,Emd<em1(IMPC)Kmpc> hom early,19.09,"HP:0002155,HP:0003236,HP:0003141",MP:0001566
+3375,ORPHA:98880,Familial Afibrinogenemia,FGB,Fgb<tm1.1(KOMP)Vlcg> het embryo,34.98,HP:0001386,MP:0001785
+3376,ORPHA:98880,Familial Afibrinogenemia,FGB,Fgb<tm1.1(KOMP)Vlcg> hom embryo,34.98,HP:0001386,MP:0001785
+3377,ORPHA:98889,Bilateral Perisylvian Polymicrogyria,ADGRG1,Adgrg1<em1(IMPC)Hmgu> hom early,11.2,HP:0011755,MP:0001147
+3378,ORPHA:98892,Periventricular Nodular Heterotopia,TMTC3,Tmtc3<tm1b(EUCOMM)Wtsi> het early,23.03,HP:0001659,"MP:0003928,MP:0004122"
+3379,ORPHA:98895,Becker Muscular Dystrophy,DMD,Dmd<em1(IMPC)Hmgu> hem early,35.43,HP:0003236,"MP:0002941,MP:0005343"
+3380,ORPHA:98895,Becker Muscular Dystrophy,DMD,Dmd<em1(IMPC)Hmgu> hom early,38.505,HP:0003236,"MP:0002965,MP:0002941,MP:0005568,MP:0002968,MP:0005343"
+3381,ORPHA:98896,Duchenne Muscular Dystrophy,DMD,Dmd<em1(IMPC)Hmgu> hem early,41.98,"HP:0001371,HP:0003236","MP:0002941,MP:0005343,MP:0010025,MP:0000063"
+3382,ORPHA:98896,Duchenne Muscular Dystrophy,DMD,Dmd<em1(IMPC)Hmgu> hom early,42.87,"HP:0001371,HP:0003236","MP:0002965,MP:0002941,MP:0005568,MP:0002968,MP:0010025,MP:0005343"
+3383,ORPHA:98912,"Late-Onset Distal Myopathy, Markesbery-Griggs Type",LDB3,Ldb3<tm2b(EUCOMM)Hmgu> het early,52.28,"HP:0012722,HP:0001638,HP:0005162,HP:0001288","MP:0010392,MP:0001402"
+3384,ORPHA:98913,Postsynaptic Congenital Myasthenic Syndromes,DOK7,Dok7<tm1.1(KOMP)Vlcg> het early,15.64,HP:0010628,MP:0004738
+3385,ORPHA:98913,Postsynaptic Congenital Myasthenic Syndromes,CHRNB1,Chrnb1<em1(IMPC)Bay> hom embryo,32.64,HP:0000218,MP:0000111
+3386,ORPHA:98914,Presynaptic Congenital Myasthenic Syndromes,SLC5A7,Slc5a7<tm1a(KOMP)Wtsi> het early,14.345,HP:0002804,MP:0010025
+3387,ORPHA:98914,Presynaptic Congenital Myasthenic Syndromes,SLC25A1,Slc25a1<tm1b(EUCOMM)Wtsi> hom embryo,24.34,"HP:0000407,HP:0000218,HP:0000369","MP:0002102,MP:0009908"
+3388,ORPHA:98914,Presynaptic Congenital Myasthenic Syndromes,SLC25A1,Slc25a1<em1(IMPC)Kmpc> hom embryo,27.51,HP:0001561,MP:0001785
+3389,ORPHA:99103,"Atrial Septal Defect, Ostium Secundum Type",TBX20,Tbx20<em1(IMPC)Mbp> hom embryo,40.395,"HP:0002326,HP:0005162,HP:0005317,HP:0001653,HP:0001633,HP:0005180,HP:0012250,HP:0001962,HP:0031664,HP:0002092,HP:0004749,HP:0011710,HP:0004755,HP:0005115,HP:0012382,HP:0030718,HP:0005110,HP:0001635,HP:0001279,HP:0005133,HP:0011675,HP:0011705,HP:0001708","MP:0001914,MP:0000266,MP:0000269"
+3390,ORPHA:994,Fetal Akinesia Deformation Sequence,DOK7,Dok7<tm1.1(KOMP)Vlcg> het early,11.435,HP:0000358,MP:0004738
+3391,ORPHA:994,Fetal Akinesia Deformation Sequence,MAGEL2,Magel2<em2(IMPC)H> hom early,27.055,HP:0002304,MP:0001392
+3392,ORPHA:994,Fetal Akinesia Deformation Sequence,TUBA1A,Tuba1a<em1(IMPC)Bay> hom embryo,30.27,"HP:0001561,HP:0001511","MP:0001697,MP:0001785"
+3393,ORPHA:99657,"Primary Dystonia, Dyt2 Type",HPCA,Hpca<em1(IMPC)H> hom early,30.71,HP:0001288,MP:0001392
+3394,ORPHA:99798,Oligodontia,MSX1,Msx1<tm1b(KOMP)Wtsi> hom embryo,47.315,"HP:0000679,HP:0000689,HP:0011056,HP:0000696,HP:0011053,HP:0006482,HP:0011078,HP:0006342,HP:0000677,HP:0011051,HP:0000690,HP:0000202,HP:0006336,HP:0006289,HP:0000687,HP:0000691,HP:0000685,HP:0006344,HP:0006297,HP:0000684,HP:0012472",MP:0000111
+3395,ORPHA:99798,Oligodontia,WNT10A,Wnt10a<tm1.1(KOMP)Vlcg> hom early,11.295,HP:0006297,MP:0010025
+3396,ORPHA:99798,Oligodontia,AXIN2,Axin2<tm1b(KOMP)Wtsi> hom embryo,34.175,"HP:0000679,HP:0000689,HP:0011056,HP:0000696,HP:0011053,HP:0006482,HP:0011078,HP:0006342,HP:0000677,HP:0011051,HP:0000690,HP:0000202,HP:0006336,HP:0006289,HP:0000687,HP:0000691,HP:0000685,HP:0006344,HP:0006297,HP:0000684,HP:0012472",MP:0009908
+3397,ORPHA:99812,Lig4 Syndrome,LIG4,Lig4<em1(IMPC)Ccpcz> het early,35.41,"HP:0008736,HP:0002488,HP:0001876,HP:0002716,HP:0001974,HP:0002240,HP:0000028","MP:0003917,MP:0000703,MP:0001120,MP:0000689,MP:0000709,MP:0000691,MP:0004906"
+3398,ORPHA:99885,Isolated Permanent Neonatal Diabetes Mellitus,PDX1,Pdx1<tm1b(EUCOMM)Wtsi> het early,30.405,"HP:0003074,HP:0003076,HP:0000857",MP:0005293
+3399,ORPHA:99885,Isolated Permanent Neonatal Diabetes Mellitus,KCNJ11,Kcnj11<tm1b(EUCOMM)Wtsi> hom early,32.725,"HP:0003074,HP:0003076,HP:0000365,HP:0000857","MP:0002102,MP:0013278,MP:0005293"
+3400,ORPHA:99885,Isolated Permanent Neonatal Diabetes Mellitus,GCK,Gck<em1(IMPC)H> het early,42.385,"HP:0003074,HP:0003076,HP:0000857","MP:0005293,MP:0013279,MP:0005559"
+3401,ORPHA:99885,Isolated Permanent Neonatal Diabetes Mellitus,ABCC8,Abcc8<em1(IMPC)J> hom early,32.15,"HP:0003074,HP:0001508,HP:0001824,HP:0000857,HP:0003076","MP:0003960,MP:0005293"
+3402,ORPHA:99886,Transient Neonatal Diabetes Mellitus,KCNJ11,Kcnj11<tm1b(EUCOMM)Wtsi> hom early,49.035,"HP:0040216,HP:0003074,HP:0004904,HP:0000365,HP:0001953,HP:0008255","MP:0002102,MP:0013278,MP:0005293"
+3403,ORPHA:99886,Transient Neonatal Diabetes Mellitus,ABCC8,Abcc8<em1(IMPC)J> hom early,49.265,"HP:0040216,HP:0003074,HP:0001518,HP:0001508,HP:0004904,HP:0001953,HP:0008255","MP:0003960,MP:0005293"
+3404,ORPHA:99947,Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2,MFN2,Mfn2<tm1b(EUCOMM)Wtsi> het early,39.175,"HP:0003376,HP:0006915",MP:0001406
+3405,ORPHA:99950,Charcot-Marie-Tooth Disease Type 4D,NDRG1,Ndrg1<tm2b(KOMP)Wtsi> hom early,46.415,"HP:0002317,HP:0002540,HP:0002174","MP:0000745,MP:0001406"