Human Phenotype Ontology 
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Heterogeneous (HP:0001425)help
Term ID: 1425
Name: Heterogeneous
Synonym: Genetic heterogeneity; Heterogeneity
Definition:
Comments:
Reference: HP:0001425
Genes and Diseases:
 
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..expandAutosomal dominant inheritance (HP:0000006) help
..expandAutosomal recessive inheritance (HP:0000007) help
..expandContiguous gene syndrome (HP:0001466) help
..expandGenetic anticipation (HP:0003743) help
..expandGonosomal inheritance (HP:0010985) help
..expandMitochondrial inheritance (HP:0001427) help
..expandMultifactorial inheritance (HP:0001426) help
..expandobsolete Familial predisposition (HP:0001472) help
..expandSomatic mutation (HP:0001428) help
..expandSporadic (HP:0003745) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001425HP:0001425Heterogeneous0ABCA3 CL E G H21610921Surfactant metabolism dysfunction, pulmonary, 3610921C1970456OMIM128920733601615
HP:0001425HP:0001425Heterogeneous0ABCB4 CL E G H5244602347Progressive familial intrahepatic cholestasis 3602347C1865643OMIM124428045171060
HP:0001425HP:0001425Heterogeneous0ABCC8 CL E G H6833256450Persistent hyperinsulinemic hypoglycemia of infancy256450C2931832OMIM166141859600509
HP:0001425HP:0001425Heterogeneous0ACTA1 CL E G H58255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1217198129102610
HP:0001425HP:0001425Heterogeneous0ACTA1 CL E G H58161800Nemaline myopathy 3161800C3711389OMIM1217198129102610
HP:0001425HP:0001425Heterogeneous0ACVRL1 CL E G H94600376Hereditary hemorrhagic telangiectasia type 2600376C1838163OMIM1432329175601284
HP:0001425HP:0001425Heterogeneous0ADAMTS13 CL E G H11093274150Upshaw-Schulman syndrome274150C1268935OMIM11981821366604134
HP:0001425HP:0001425Heterogeneous0ADGRV1 CL E G H84059604352Febrile seizures, familial, 4604352C1858493OMIM124990117416602851
HP:0001425HP:0001425Heterogeneous0AGPAT2 CL E G H10555608594Congenital generalized lipodystrophy type 1608594C1720862OMIM143145325603100
HP:0001425HP:0001425Heterogeneous0AHI1 CL E G H54806608629Joubert syndrome 3608629C1837713OMIM19627221575608894
HP:0001425HP:0001425Heterogeneous0AKT1 CL E G H207114480Familial cancer of breast114480C0346153OMIM112187391164730
HP:0001425HP:0001425Heterogeneous0ANK2 CL E G H287600919Cardiac arrhythmia, ankyrin B-related600919C1970119OMIM175933493106410
HP:0001425HP:0001425Heterogeneous0APC CL E G H324114550Hepatocellular carcinoma114550C2239176OMIM119515972583611731
HP:0001425HP:0001425Heterogeneous0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM18220492616003
HP:0001425HP:0001425Heterogeneous0APP CL E G H351104300Alzheimer's disease104300C0002395OMIM1107161620104760
HP:0001425HP:0001425Heterogeneous0AQP2 CL E G H359125800Nephrogenic diabetes insipidus, autosomal125800C1563706OMIM166102634107777
HP:0001425HP:0001425Heterogeneous0ATL1 CL E G H51062182600Spastic paraplegia 3182600C2931355OMIM18516411231606439
HP:0001425HP:0001425Heterogeneous0ATP1A2 CL E G H477602481Familial hemiplegic migraine type 2602481C1865322OMIM199413800182340
HP:0001425HP:0001425Heterogeneous0AVPR2 CL E G H554304800Nephrogenic diabetes insipidus, X-linked304800C1563705OMIM1286302897300538
HP:0001425HP:0001425Heterogeneous0AXIN1 CL E G H8312114550Hepatocellular carcinoma114550C2239176OMIM11861903603816
HP:0001425HP:0001425Heterogeneous0BCS1L CL E G H617256000Leigh syndrome256000C0023264OMIM1371401020603647
HP:0001425HP:0001425Heterogeneous0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM1684091097164757
HP:0001425HP:0001425Heterogeneous0BRCA1 CL E G H672114480Familial cancer of breast114480C0346153OMIM1282476861100113705
HP:0001425HP:0001425Heterogeneous0BRCA2 CL E G H675194070Wilms tumor 1194070CN033288OMIM13025108261101600185
HP:0001425HP:0001425Heterogeneous0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM15019115832606158
HP:0001425HP:0001425Heterogeneous0BSND CL E G H7809602522Bartter syndrome type 4602522C1865270OMIM1248116512606412
HP:0001425HP:0001425Heterogeneous0CACNA1A CL E G H773141500Familial hemiplegic migraine type 1141500C1832884OMIM125110381388601011
HP:0001425HP:0001425Heterogeneous0CACNA1F CL E G H778300071Congenital stationary night blindness, type 2A300071C1848172OMIM11852421393300110
HP:0001425HP:0001425Heterogeneous0CASP8 CL E G H841114550Hepatocellular carcinoma114550C2239176OMIM112801509601763
HP:0001425HP:0001425Heterogeneous0CAV3 CL E G H859606072Rippling muscle disease606072C1853698OMIM1502371529601253
HP:0001425HP:0001425Heterogeneous0CC2D2A CL E G H57545216360COACH syndrome216360C1857662OMIM19645129253612013
HP:0001425HP:0001425Heterogeneous0CCM2 CL E G H83605603284Cerebral cavernous malformations 2603284C1864041OMIM18812121708607929
HP:0001425HP:0001425Heterogeneous0CENPJ CL E G H55835608393Primary autosomal recessive microcephaly 6608393C1842109OMIM11023317272609279
HP:0001425HP:0001425Heterogeneous0CFTR CL E G H1080277180Congenital bilateral absence of the vas deferens277180C0403814OMIM1182818231884602421
HP:0001425HP:0001425Heterogeneous0CHAT CL E G H1103254210Familial infantile myasthenia254210C0393929OMIM1772461912118490
HP:0001425HP:0001425Heterogeneous0CHRNA2 CL E G H1135610353Epilepsy, nocturnal frontal lobe, type 4610353C1835905OMIM1133521956118502
HP:0001425HP:0001425Heterogeneous0CLCN7 CL E G H1186166600Osteopetrosis autosomal dominant type 2166600C3179239OMIM11001592025602727
HP:0001425HP:0001425Heterogeneous0CLCNKA CL E G H1187613090Bartter syndrome, type 4b613090C2751312OMIM16842026602024
HP:0001425HP:0001425Heterogeneous0CLCNKB CL E G H1188613090Bartter syndrome, type 4b613090C2751312OMIM11521252027602023
HP:0001425HP:0001425Heterogeneous0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM171425716615623
HP:0001425HP:0001425Heterogeneous0COL17A1 CL E G H1308226650Adult junctional epidermolysis bullosa226650C0268374OMIM11141642194113811
HP:0001425HP:0001425Heterogeneous0COL4A3 CL E G H1285203780Alport syndrome, autosomal recessive203780C1567744OMIM12723862204120070
HP:0001425HP:0001425Heterogeneous0COL4A4 CL E G H1286203780Alport syndrome, autosomal recessive203780C1567744OMIM12334522206120131
HP:0001425HP:0001425Heterogeneous0COL4A5 CL E G H1287301050Alport syndrome, X-linked recessive301050C1567742OMIM1100011442207303630
HP:0001425HP:0001425Heterogeneous0COL9A2 CL E G H1298600204Multiple epiphyseal dysplasia 2600204C1838429OMIM1131752218120260
HP:0001425HP:0001425Heterogeneous0COL9A3 CL E G H1299600969Multiple epiphyseal dysplasia 3600969C1832998OMIM1172052219120270
HP:0001425HP:0001425Heterogeneous0COMP CL E G H1311132400Multiple epiphyseal dysplasia 1132400C1838280OMIM11881182227600310
HP:0001425HP:0001425Heterogeneous0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1131752260602125
HP:0001425HP:0001425Heterogeneous0COX10 CL E G H1352256000Leigh syndrome256000C0023264OMIM1131752260602125
HP:0001425HP:0001425Heterogeneous0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111428216614478
HP:0001425HP:0001425Heterogeneous0COX15 CL E G H1355256000Leigh syndrome256000C0023264OMIM151362263603646
HP:0001425HP:0001425Heterogeneous0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1111926970614698
HP:0001425HP:0001425Heterogeneous0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13292280124089
HP:0001425HP:0001425Heterogeneous0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM11102294123870
HP:0001425HP:0001425Heterogeneous0CREBBP CL E G H1387180849Rubinstein-Taybi syndrome180849C0035934OMIM13645152348600140
HP:0001425HP:0001425Heterogeneous0CRELD1 CL E G H78987606217Atrioventricular septal defect 2606217C1853508OMIM1167714630607170
HP:0001425HP:0001425Heterogeneous0CTNNB1 CL E G H1499114550Hepatocellular carcinoma114550C2239176OMIM1541332514116806
HP:0001425HP:0001425Heterogeneous0CTSC CL E G H1075170650Periodontitis, aggressive, 1170650C0031106OMIM196982528602365
HP:0001425HP:0001425Heterogeneous0CYP1B1 CL E G H1545231300Glaucoma 3, primary congenital, A231300C1856439OMIM12431392597601771
HP:0001425HP:0001425Heterogeneous0DHH CL E G H5084623342046,XY sex reversal, type 7233420C1856273OMIM118382865605423
HP:0001425HP:0001425Heterogeneous0DISC2 CL E G H27184181500Schizophrenia181500C0036341OMIM1272889606271
HP:0001425HP:0001425Heterogeneous0DNAI1 CL E G H27019244400Kartagener syndrome244400C0022521OMIM1381952954604366
HP:0001425HP:0001425Heterogeneous0DNM2 CL E G H1785606482Charcot-Marie-Tooth disease, dominant intermediate B606482C1847902OMIM1523492974602378
HP:0001425HP:0001425Heterogeneous0DSG2 CL E G H1829610193Arrhythmogenic right ventricular cardiomyopathy, type 10610193C1857777OMIM11325713049125671
HP:0001425HP:0001425Heterogeneous0DSP CL E G H1832607450Arrhythmogenic right ventricular cardiomyopathy, type 8607450C1843896OMIM130913253052125647
HP:0001425HP:0001425Heterogeneous0DYSF CL E G H8291254130Miyoshi muscular dystrophy 1254130C1850808OMIM153712073097603009
HP:0001425HP:0001425Heterogeneous0EDA CL E G H1896305100Hypohidrotic X-linked ectodermal dysplasia305100C0162359OMIM13303073157300451
HP:0001425HP:0001425Heterogeneous0EDAR CL E G H10913129490Autosomal dominant hypohidrotic ectodermal dysplasia129490C1720965OMIM1621572895604095
HP:0001425HP:0001425Heterogeneous0EDAR CL E G H10913224900Autosomal recessive hypohidrotic ectodermal dysplasia syndrome224900C0406702OMIM1621572895604095
HP:0001425HP:0001425Heterogeneous0EDARADD CL E G H128178129490Autosomal dominant hypohidrotic ectodermal dysplasia129490C1720965OMIM11011914341606603
HP:0001425HP:0001425Heterogeneous0EDARADD CL E G H128178224900Autosomal recessive hypohidrotic ectodermal dysplasia syndrome224900C0406702OMIM11011914341606603
HP:0001425HP:0001425Heterogeneous0EDN3 CL E G H1908613265Waardenburg syndrome type 4B613265C2750457OMIM121913178131242
HP:0001425HP:0001425Heterogeneous0EDNRB CL E G H1910277580Waardenburg syndrome type 4A277580C1848519OMIM1701403180131244
HP:0001425HP:0001425Heterogeneous0EGR2 CL E G H1959607678Charcot-Marie-Tooth disease, demyelinating, type 1d607678C1843247OMIM1241313239129010
HP:0001425HP:0001425Heterogeneous0EGR2 CL E G H1959145900Dejerine-Sottas disease145900C0011195OMIM1241313239129010
HP:0001425HP:0001425Heterogeneous0ELN CL E G H2006123700Cutis laxa, autosomal dominant 1123700C3276539OMIM11274323327130160
HP:0001425HP:0001425Heterogeneous0ENAM CL E G H10117204650Amelogenesis imperfecta, type IC204650C2673923OMIM119713344606585
HP:0001425HP:0001425Heterogeneous0ENG CL E G H2022187300Osler hemorrhagic telangiectasia syndrome187300C0039445OMIM14974583349131195
HP:0001425HP:0001425Heterogeneous0EP300 CL E G H2033180849Rubinstein-Taybi syndrome180849C0035934OMIM11073503373602700
HP:0001425HP:0001425Heterogeneous0EPM2A CL E G H7957254780Lafora disease254780C0751783OMIM1821573413607566
HP:0001425HP:0001425Heterogeneous0ERCC6 CL E G H2074600630UV-sensitive syndrome600630C1833561OMIM11403483438609413
HP:0001425HP:0001425Heterogeneous0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM1701363439609412
HP:0001425HP:0001425Heterogeneous0ESR1 CL E G H2099114480Familial cancer of breast114480C0346153OMIM138743467133430
HP:0001425HP:0001425Heterogeneous0EYA1 CL E G H2138113650Melnick-Fraser syndrome113650C0265234OMIM12212233519601653
HP:0001425HP:0001425Heterogeneous0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1315929160612322
HP:0001425HP:0001425Heterogeneous0FBLN5 CL E G H10516219100Autosomal recessive cutis laxa type IA219100CN033664OMIM1231183602604580
HP:0001425HP:0001425Heterogeneous0FGD4 CL E G H121512609311Charcot-Marie-Tooth disease, type 4H609311C1836336OMIM13029119125611104
HP:0001425HP:0001425Heterogeneous0FGF14 CL E G H2259609307Spinocerebellar ataxia 27609307C1836383OMIM1101323671601515
HP:0001425HP:0001425Heterogeneous0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM12652733688136350
HP:0001425HP:0001425Heterogeneous0FKRP CL E G H79147236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM114131417997606596
HP:0001425HP:0001425Heterogeneous0FKTN CL E G H2218236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1593593622607440
HP:0001425HP:0001425Heterogeneous0FOXC1 CL E G H2296602482Axenfeld-Rieger syndrome type 3602482C2678503OMIM11391653800601090
HP:0001425HP:0001425Heterogeneous0FRMD7 CL E G H90167310700Infantile nystagmus, X-linked310700C1839580OMIM1952088079300628
HP:0001425HP:0001425Heterogeneous0GAD1 CL E G H2571603513Cerebral palsy, spastic quadriplegic, 1603513C2751938OMIM17704092605363
HP:0001425HP:0001425Heterogeneous0GCH1 CL E G H2643128230Dystonia 5, Dopa-responsive type128230C1851920OMIM12521564193600225
HP:0001425HP:0001425Heterogeneous0GCK CL E G H2645602485Hyperinsulinemic hypoglycemia familial 3602485C1865290OMIM18483744195138079
HP:0001425HP:0001425Heterogeneous0GDAP1 CL E G H54332607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM110325315968606598
HP:0001425HP:0001425Heterogeneous0GDAP1 CL E G H54332214400Charcot-Marie-Tooth disease, type 4A214400C1859198OMIM110325315968606598
HP:0001425HP:0001425Heterogeneous0GDF6 CL E G H392255118100Klippel-Feil syndrome 1, autosomal dominant118100C1861689OMIM121964221601147
HP:0001425HP:0001425Heterogeneous0GLUD1 CL E G H2746606762Hyperinsulinism-hyperammonemia syndrome606762C1847555OMIM1381034335138130
HP:0001425HP:0001425Heterogeneous0GPC3 CL E G H2719194070Wilms tumor 1194070CN033288OMIM1983824451300037
HP:0001425HP:0001425Heterogeneous0GPC4 CL E G H2239194070Wilms tumor 1194070CN033288OMIM151824452300168
HP:0001425HP:0001425Heterogeneous0H19 CL E G H283120194070Wilms tumor 1194070CN033288OMIM138444713103280
HP:0001425HP:0001425Heterogeneous0HADH CL E G H3033609975Hyperinsulinemic hypoglycemia, familial, 4609975C1864948OMIM126584799601609
HP:0001425HP:0001425Heterogeneous0HCRT CL E G H3060161400Narcolepsy 1161400C1834372OMIM1294847602358
HP:0001425HP:0001425Heterogeneous0HPS1 CL E G H3257203300Hermansky-Pudlak syndrome 1203300C2931875OMIM1551495163604982
HP:0001425HP:0001425Heterogeneous0HSPB1 CL E G H3315606595Charcot-Marie-Tooth disease type 2F606595C1847823OMIM1481505246602195
HP:0001425HP:0001425Heterogeneous0HSPB8 CL E G H26353608673Charcot-Marie-Tooth disease, type 2L608673C1837552OMIM1108530171608014
HP:0001425HP:0001425Heterogeneous0IGF2 CL E G H3481194070Wilms tumor 1194070CN033288OMIM111435466147470
HP:0001425HP:0001425Heterogeneous0IGF2R CL E G H3482114550Hepatocellular carcinoma114550C2239176OMIM16275467147280
HP:0001425HP:0001425Heterogeneous0IHH CL E G H3549112500Type A1 brachydactyly112500C1862151OMIM133705956600726
HP:0001425HP:0001425Heterogeneous0INPP5E CL E G H56623213300Joubert syndrome 1213300CN119531OMIM15420021474613037
HP:0001425HP:0001425Heterogeneous0INSR CL E G H3643609968Hyperinsulinemic hypoglycemia familial 5609968C1864952OMIM11962746091147670
HP:0001425HP:0001425Heterogeneous0IQCB1 CL E G H9657609254Senior-Loken syndrome 5609254C1836517OMIM1439128949609237
HP:0001425HP:0001425Heterogeneous0ITGB4 CL E G H3691226650Adult junctional epidermolysis bullosa226650C0268374OMIM1991646158147557
HP:0001425HP:0001425Heterogeneous0JPH1 CL E G H56704607831Charcot-Marie-Tooth disease type 2K607831C1842983OMIM112914201605266
HP:0001425HP:0001425Heterogeneous0JUP CL E G H3728611528Arrhythmogenic right ventricular cardiomyopathy, type 12611528C1969081OMIM1483676207173325
HP:0001425HP:0001425Heterogeneous0KCNE1 CL E G H3753612347Jervell and Lange-Nielsen syndrome 2612347C2676723OMIM1492526240176261
HP:0001425HP:0001425Heterogeneous0KCNE1 CL E G H3753613695Long QT syndrome 5613695C1867904OMIM1492526240176261
HP:0001425HP:0001425Heterogeneous0KCNE2 CL E G H9992613693Long QT syndrome 6613693C3150953OMIM1251256242603796
HP:0001425HP:0001425Heterogeneous0KCNH2 CL E G H3757613688Long QT syndrome 2613688C3150943OMIM194713166251152427
HP:0001425HP:0001425Heterogeneous0KCNJ1 CL E G H3758241200Bartter syndrome, type 2, antenatal241200C1855849OMIM1701346255600359
HP:0001425HP:0001425Heterogeneous0KCNJ11 CL E G H3767601820Islet cell hyperplasia601820C0027773OMIM11871896257600937
HP:0001425HP:0001425Heterogeneous0KCNQ1 CL E G H3784607554Atrial fibrillation, familial, 3607554C1837014OMIM16439716294607542
HP:0001425HP:0001425Heterogeneous0KCNQ1 CL E G H3784220400Jervell and Lange-Nielsen syndrome 1220400CN034131OMIM16439716294607542
HP:0001425HP:0001425Heterogeneous0KCNQ1 CL E G H3784192500Long QT syndrome 1192500C0035828OMIM16439716294607542
HP:0001425HP:0001425Heterogeneous0KCNQ2 CL E G H3785121200Benign familial neonatal seizures 1121200C1852587OMIM13148126296602235
HP:0001425HP:0001425Heterogeneous0KIF1B CL E G H23095118210Charcot-Marie-Tooth disease, type 2A1118210C1861678OMIM11330316636605995
HP:0001425HP:0001425Heterogeneous0KIF7 CL E G H374654200990Acrocallosal syndrome, Schinzel type200990C0796147OMIM14528130497611254
HP:0001425HP:0001425Heterogeneous0KRAS CL E G H3845114480Familial cancer of breast114480C0346153OMIM1452626407190070
HP:0001425HP:0001425Heterogeneous0KRIT1 CL E G H889116860Cerebral cavernous malformation116860C2919945OMIM12742581573604214
HP:0001425HP:0001425Heterogeneous0KRT16 CL E G H3868167200Pachyonychia congenita 1167200C1706595OMIM131366423148067
HP:0001425HP:0001425Heterogeneous0KRT17 CL E G H3872167210Pachyonychia congenita 2167210C1721007OMIM129326427148069
HP:0001425HP:0001425Heterogeneous0KRT81 CL E G H3887158000Beaded hair158000C0546966OMIM15146458602153
HP:0001425HP:0001425Heterogeneous0KRT83 CL E G H3889158000Beaded hair158000C0546966OMIM14796460602765
HP:0001425HP:0001425Heterogeneous0KRT86 CL E G H3892158000Beaded hair158000C0546966OMIM112266463601928
HP:0001425HP:0001425Heterogeneous0LAMA3 CL E G H3909226650Adult junctional epidermolysis bullosa226650C0268374OMIM1552806483600805
HP:0001425HP:0001425Heterogeneous0LAMB3 CL E G H3914226650Adult junctional epidermolysis bullosa226650C0268374OMIM11212366490150310
HP:0001425HP:0001425Heterogeneous0LAMC2 CL E G H3918226650Adult junctional epidermolysis bullosa226650C0268374OMIM1412006493150292
HP:0001425HP:0001425Heterogeneous0LARGE1 CL E G H9215236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1282966511603590
HP:0001425HP:0001425Heterogeneous0LITAF CL E G H9516601098Charcot-Marie-Tooth disease, type 1C601098C0270913OMIM11914616841603795
HP:0001425HP:0001425Heterogeneous0LMNA CL E G H4000605588Charcot-Marie-Tooth disease type 2B1605588C1854154OMIM15749186636150330
HP:0001425HP:0001425Heterogeneous0LMNA CL E G H4000275210Lethal tight skin contracture syndrome275210C0406585OMIM15749186636150330
HP:0001425HP:0001425Heterogeneous0LMNA CL E G H4000248370Mandibuloacral dysostosis248370C0432291OMIM15749186636150330
HP:0001425HP:0001425Heterogeneous0LRP5 CL E G H4041607634Osteopetrosis autosomal dominant type 1607634C1843330OMIM12211896697603506
HP:0001425HP:0001425Heterogeneous0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM1232036840176872
HP:0001425HP:0001425Heterogeneous0MAPT CL E G H4137600274Frontotemporal dementia600274C0338451OMIM11202836893157140
HP:0001425HP:0001425Heterogeneous0MAPT CL E G H4137601104Progressive supranuclear ophthalmoplegia601104C0038868OMIM11202836893157140
HP:0001425HP:0001425Heterogeneous0MATN3 CL E G H4148607078Multiple epiphyseal dysplasia 5607078C1846843OMIM128626909602109
HP:0001425HP:0001425Heterogeneous0MBTPS2 CL E G H51360308800Keratosis pilaris decalvans308800C0343057OMIM12618815455300294
HP:0001425HP:0001425Heterogeneous0MCCC1 CL E G H569222102003 Methylcrotonyl-CoA carboxylase 1 deficiency210200CN028786OMIM11082026936609010
HP:0001425HP:0001425Heterogeneous0MCCC2 CL E G H640872102103-methylcrotonyl CoA carboxylase 2 deficiency210210C1859499OMIM11171556937609014
HP:0001425HP:0001425Heterogeneous0MET CL E G H4233114550Hepatocellular carcinoma114550C2239176OMIM1398147029164860
HP:0001425HP:0001425Heterogeneous0MID1 CL E G H4281300000Opitz-Frias syndrome300000C0175696OMIM1982617095300552
HP:0001425HP:0001425Heterogeneous0MITF CL E G H4286193510Waardenburg syndrome type 2A193510C1860339OMIM1611717105156845
HP:0001425HP:0001425Heterogeneous0MLPH CL E G H79083609227Griscelli syndrome type 3609227C1836573OMIM198029643606526
HP:0001425HP:0001425Heterogeneous0MPZ CL E G H4359118200Charcot-Marie-Tooth disease, demyelinating, type 1b118200C0270912OMIM12463547225159440
HP:0001425HP:0001425Heterogeneous0MPZ CL E G H4359145900Dejerine-Sottas disease145900C0011195OMIM12463547225159440
HP:0001425HP:0001425Heterogeneous0MRPS16 CL E G H51021610498Combined oxidative phosphorylation deficiency 2610498C1864843OMIM118014048609204
HP:0001425HP:0001425Heterogeneous0MSX2 CL E G H4488168500Parietal foramina 1168500C1868599OMIM126717392123101
HP:0001425HP:0001425Heterogeneous0MT-ATP6 CL E G H4508535000Leber's optic atrophy535000C0917796OMIM17414516060
HP:0001425HP:0001425Heterogeneous0MT-CO3 CL E G H4514535000Leber's optic atrophy535000C0917796OMIM17422516050
HP:0001425HP:0001425Heterogeneous0MT-CYB CL E G H4519535000Leber's optic atrophy535000C0917796OMIM17427516020
HP:0001425HP:0001425Heterogeneous0MT-ND1 CL E G H4535535000Leber's optic atrophy535000C0917796OMIM17455516000
HP:0001425HP:0001425Heterogeneous0MT-ND2 CL E G H4536535000Leber's optic atrophy535000C0917796OMIM17456516001
HP:0001425HP:0001425Heterogeneous0MT-ND4 CL E G H4538535000Leber's optic atrophy535000C0917796OMIM17459516003
HP:0001425HP:0001425Heterogeneous0MT-ND4L CL E G H4539535000Leber's optic atrophy535000C0917796OMIM17460516004
HP:0001425HP:0001425Heterogeneous0MT-ND5 CL E G H4540535000Leber's optic atrophy535000C0917796OMIM17461516005
HP:0001425HP:0001425Heterogeneous0MT-ND6 CL E G H4541535000Leber's optic atrophy535000C0917796OMIM17462516006
HP:0001425HP:0001425Heterogeneous0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001425HP:0001425Heterogeneous0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001425HP:0001425Heterogeneous0MTMR2 CL E G H8898601382Charcot-Marie-Tooth disease, type 4B1601382C1832399OMIM1242127450603557
HP:0001425HP:0001425Heterogeneous0MYH7 CL E G H4625255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1100218397577160760
HP:0001425HP:0001425Heterogeneous0MYO7A CL E G H4647276900Usher syndrome, type 1276900C1568247OMIM15278487606276903
HP:0001425HP:0001425Heterogeneous0NEB CL E G H4703256030Nemaline myopathy 2256030C1850569OMIM132120117720161650
HP:0001425HP:0001425Heterogeneous0NEFL CL E G H4747607734Charcot-Marie-Tooth disease, demyelinating, type 1f607734C1843164OMIM1442727739162280
HP:0001425HP:0001425Heterogeneous0NHLRC1 CL E G H378884254780Lafora disease254780C0751783OMIM17113521576608072
HP:0001425HP:0001425Heterogeneous0NLGN4X CL E G H57502300495Autism, susceptibility to, X-linked 2300495C1845539OMIM13628714287300427
HP:0001425HP:0001425Heterogeneous0NME1 CL E G H4830256700Neuroblastoma256700C0027819OMIM11127849156490
HP:0001425HP:0001425Heterogeneous0NPC1 CL E G H4864257220Niemann-Pick disease type C1257220C3179455OMIM14785427897607623
HP:0001425HP:0001425Heterogeneous0NPC2 CL E G H10577607625Niemann-Pick disease type C2607625C1843366OMIM1276714537601015
HP:0001425HP:0001425Heterogeneous0NPHP1 CL E G H4867609583Joubert syndrome 4609583C1846790OMIM1793287905607100
HP:0001425HP:0001425Heterogeneous0NPHP1 CL E G H4867266900Senior-Loken syndrome 1266900C0403553OMIM1793287905607100
HP:0001425HP:0001425Heterogeneous0NPHP4 CL E G H261734606996Senior-Loken syndrome 4606996C1846979OMIM111850019104607215
HP:0001425HP:0001425Heterogeneous0NSDHL CL E G H50814308050Child syndrome308050C0265267OMIM13123013398300275
HP:0001425HP:0001425Heterogeneous0ORC1 CL E G H4998224690Meier-Gorlin syndrome 1224690CN030358OMIM112658487601902
HP:0001425HP:0001425Heterogeneous0PDGFRL CL E G H5157114550Hepatocellular carcinoma114550C2239176OMIM11778805604584
HP:0001425HP:0001425Heterogeneous0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM122540038614770
HP:0001425HP:0001425Heterogeneous0PEX1 CL E G H5189214100Zellweger syndrome214100C0043459OMIM11403398850602136
HP:0001425HP:0001425Heterogeneous0PIK3CA CL E G H5290114480Familial cancer of breast114480C0346153OMIM1572888975171834
HP:0001425HP:0001425Heterogeneous0PIK3CA CL E G H5290114550Hepatocellular carcinoma114550C2239176OMIM1572888975171834
HP:0001425HP:0001425Heterogeneous0PITX2 CL E G H5308180500Axenfeld-Rieger syndrome type 1180500C3714873OMIM1104809005601542
HP:0001425HP:0001425Heterogeneous0PMP22 CL E G H5376118220Charcot-Marie-Tooth disease, type IA118220C0270911OMIM11652779118601097
HP:0001425HP:0001425Heterogeneous0PMP22 CL E G H5376145900Dejerine-Sottas disease145900C0011195OMIM11652779118601097
HP:0001425HP:0001425Heterogeneous0POLG CL E G H5428157640Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1157640C1834846OMIM130010159179174763
HP:0001425HP:0001425Heterogeneous0POMGNT1 CL E G H55624253280Muscle eye brain disease253280C0457133OMIM18936419139606822
HP:0001425HP:0001425Heterogeneous0POMT1 CL E G H10585236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM1964119202607423
HP:0001425HP:0001425Heterogeneous0POMT2 CL E G H29954613150Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2613150C3150411OMIM17539219743607439
HP:0001425HP:0001425Heterogeneous0POMT2 CL E G H29954236670Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 1236670CN033898OMIM17539219743607439
HP:0001425HP:0001425Heterogeneous0PPM1D CL E G H8493114480Familial cancer of breast114480C0346153OMIM163609277605100
HP:0001425HP:0001425Heterogeneous0PRKAG2 CL E G H51422600858Familial hypertrophic cardiomyopathy 6600858C1833236OMIM1614339386602743
HP:0001425HP:0001425Heterogeneous0PRKAR1A CL E G H5573160980Carney complex, type 1160980C2607929OMIM11882949388188830
HP:0001425HP:0001425Heterogeneous0PRX CL E G H57716145900Dejerine-Sottas disease145900C0011195OMIM16242513797605725
HP:0001425HP:0001425Heterogeneous0PSEN1 CL E G H5663600274Frontotemporal dementia600274C0338451OMIM13202919508104311
HP:0001425HP:0001425Heterogeneous0PTCH1 CL E G H5727109400Gorlin syndrome109400C0004779OMIM152913809585601309
HP:0001425HP:0001425Heterogeneous0PTCH2 CL E G H8643109400Gorlin syndrome109400C0004779OMIM1111609586603673
HP:0001425HP:0001425Heterogeneous0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM11433809644176876
HP:0001425HP:0001425Heterogeneous0RB1CC1 CL E G H9821114480Familial cancer of breast114480C0346153OMIM146315574606837
HP:0001425HP:0001425Heterogeneous0RP1 CL E G H6101180100Retinitis pigmentosa 1180100C0220701OMIM119018710263603937
HP:0001425HP:0001425Heterogeneous0RPGRIP1L CL E G H23322216360COACH syndrome216360C1857662OMIM15125529168610937
HP:0001425HP:0001425Heterogeneous0RPGRIP1L CL E G H23322611560Joubert syndrome 7611560C1969053OMIM15125529168610937
HP:0001425HP:0001425Heterogeneous0RPGRIP1L CL E G H23322611561Meckel syndrome type 5611561C1969052OMIM15125529168610937
HP:0001425HP:0001425Heterogeneous0RYR1 CL E G H6261255310Congenital myopathy with fiber type disproportion255310C0546264OMIM1688238210483180901
HP:0001425HP:0001425Heterogeneous0SAMD12 CL E G H401474601068Epilepsy, familial adult myoclonic, 1601068C1832841OMIM114431750618073
HP:0001425HP:0001425Heterogeneous0SBF2 CL E G H81846604563Charcot-Marie-Tooth disease, type 4B2604563C1858278OMIM1294542135607697
HP:0001425HP:0001425Heterogeneous0SCN5A CL E G H6331603830Long QT syndrome 3603830C1859062OMIM1914162410593600163
HP:0001425HP:0001425Heterogeneous0SCN5A CL E G H6331113900Progressive familial heart block type 1A113900C1879286OMIM1914162410593600163
HP:0001425HP:0001425Heterogeneous0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM157510603603644
HP:0001425HP:0001425Heterogeneous0SDHA CL E G H6389256000Leigh syndrome256000C0023264OMIM19189510680600857
HP:0001425HP:0001425Heterogeneous0SELENON CL E G H57190255310Congenital myopathy with fiber type disproportion255310C0546264OMIM16324215999606210
HP:0001425HP:0001425Heterogeneous0SFTPB CL E G H6439265120Surfactant metabolism dysfunction, pulmonary, 1265120C1968602OMIM1317010801178640
HP:0001425HP:0001425Heterogeneous0SFTPC CL E G H6440610913Surfactant metabolism dysfunction, pulmonary, 2610913C1970470OMIM18712310802178620
HP:0001425HP:0001425Heterogeneous0SH3TC2 CL E G H79628601596Charcot-Marie-Tooth disease, type 4C601596C1866636OMIM110273129427608206
HP:0001425HP:0001425Heterogeneous0SIX1 CL E G H6495113650Melnick-Fraser syndrome113650C0265234OMIM1207610887601205
HP:0001425HP:0001425Heterogeneous0SIX3 CL E G H6496157170Holoprosencephaly 2157170C1834877OMIM1917310889603714
HP:0001425HP:0001425Heterogeneous0SLC12A1 CL E G H6557601678Bartter syndrome, type 1, antenatal601678C1866495OMIM19010810910600839
HP:0001425HP:0001425Heterogeneous0SLC16A1 CL E G H6566610021Exercise-induced hyperinsulinemic hypoglycemia610021C1864902OMIM1149510922600682
HP:0001425HP:0001425Heterogeneous0SLC22A18 CL E G H5002114480Familial cancer of breast114480C0346153OMIM112510964602631
HP:0001425HP:0001425Heterogeneous0SLC25A38 CL E G H54977205950Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive205950C2673914OMIM1296626054610819
HP:0001425HP:0001425Heterogeneous0SLC25A4 CL E G H291609283Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2609283C1836460OMIM11718910990103220
HP:0001425HP:0001425Heterogeneous0SNAI2 CL E G H6591608890Waardenburg syndrome type 2D608890C1837203OMIM144911094602150
HP:0001425HP:0001425Heterogeneous0SNRPN CL E G H6638209850Autistic disorder of childhood onset209850C0004352OMIM12536411164182279
HP:0001425HP:0001425Heterogeneous0SOD1 CL E G H6647105400Amyotrophic lateral sclerosis type 1105400C1862939OMIM121712711179147450
HP:0001425HP:0001425Heterogeneous0SOX10 CL E G H6663611584Waardenburg syndrome type 2E611584C2700405OMIM115113911190602229
HP:0001425HP:0001425Heterogeneous0SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM115113911190602229
HP:0001425HP:0001425Heterogeneous0SPTA1 CL E G H6708130600Elliptocytosis 2130600C1851741OMIM15925711272182860
HP:0001425HP:0001425Heterogeneous0SUFU CL E G H51684109400Gorlin syndrome109400C0004779OMIM14731416466607035
HP:0001425HP:0001425Heterogeneous0SURF1 CL E G H6834256000Leigh syndrome256000C0023264OMIM112815511474185620
HP:0001425HP:0001425Heterogeneous0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM134324316612958
HP:0001425HP:0001425Heterogeneous0TCIRG1 CL E G H10312259700Osteopetrosis autosomal recessive 1259700C1850127OMIM113717511647604592
HP:0001425HP:0001425Heterogeneous0TGFB3 CL E G H7043107970Arrhythmogenic right ventricular dysplasia, familial 1107970C1862511OMIM13422411769190230
HP:0001425HP:0001425Heterogeneous0TGFBR1 CL E G H7046609192Loeys-Dietz syndrome 1609192C2697933OMIM17939311772190181
HP:0001425HP:0001425Heterogeneous0TGFBR2 CL E G H7048610168Loeys-Dietz syndrome 2610168C2674876OMIM114838111773190182
HP:0001425HP:0001425Heterogeneous0TMEM216 CL E G H51259608091Joubert syndrome 2608091C1842577OMIM188225018613277
HP:0001425HP:0001425Heterogeneous0TMEM67 CL E G H91147216360COACH syndrome216360C1857662OMIM117426128396609884
HP:0001425HP:0001425Heterogeneous0TMEM67 CL E G H91147610688Joubert syndrome 6610688C1853153OMIM117426128396609884
HP:0001425HP:0001425Heterogeneous0TNNI3 CL E G H7137613690Familial hypertrophic cardiomyopathy 7613690C1860752OMIM113131211947191044
HP:0001425HP:0001425Heterogeneous0TP53 CL E G H7157114480Familial cancer of breast114480C0346153OMIM1541165611998191170
HP:0001425HP:0001425Heterogeneous0TP53 CL E G H7157114550Hepatocellular carcinoma114550C2239176OMIM1541165611998191170
HP:0001425HP:0001425Heterogeneous0TPM2 CL E G H7169255310Congenital myopathy with fiber type disproportion255310C0546264OMIM14016312011190990
HP:0001425HP:0001425Heterogeneous0TPM2 CL E G H7169108120Distal arthrogryposis type 1A108120C0220662OMIM14016312011190990
HP:0001425HP:0001425Heterogeneous0TPM2 CL E G H7169609285Nemaline myopathy 4609285C1836447OMIM14016312011190990
HP:0001425HP:0001425Heterogeneous0TPM3 CL E G H7170255310Congenital myopathy with fiber type disproportion255310C0546264OMIM12814412012191030
HP:0001425HP:0001425Heterogeneous0TPM3 CL E G H7170609284Nemaline myopathy 1609284C1836448OMIM12814412012191030
HP:0001425HP:0001425Heterogeneous0TSC1 CL E G H7248191100Tuberous sclerosis 1191100C1854465OMIM1404176612362605284
HP:0001425HP:0001425Heterogeneous0TSC2 CL E G H7249613254Tuberous sclerosis 2613254C1860707OMIM11269432712363191092
HP:0001425HP:0001425Heterogeneous0USH1C CL E G H10083276900Usher syndrome, type 1276900C1568247OMIM15133612597605242
HP:0001425HP:0001425Heterogeneous0VSX1 CL E G H30813148300Keratoconus 1148300C1835677OMIM1247312723605020
HP:0001425HP:0001425Heterogeneous0WNT3 CL E G H7473273395Tetraamelia, autosomal recessive273395C4012268OMIM122912782165330
HP:0001425HP:0001425Heterogeneous0WT1 CL E G H7490194070Wilms tumor 1194070CN033288OMIM118441212796607102
HP:0001425HP:0001425Heterogeneous0YARS CL E G H8565608323Charcot-Marie-Tooth disease, dominant intermediate C608323C1842237OMIM11412840603623
HP:0001425HP:0001425Heterogeneous0ZMPSTE24 CL E G H10269275210Lethal tight skin contracture syndrome275210C0406585OMIM13410012877606480
HP:0001425HP:0001425Heterogeneous0ZMPSTE24 CL E G H10269608612Mandibuloacral dysplasia with type B lipodystrophy608612C1837756OMIM13410012877606480
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (248) :ABCA3 ABCB4 ABCC8 ACTA1 ACVRL1 ADAMTS13 ADGRV1 AGPAT2 AHI1 AKT1 ANK2 APC APOPT1 APP AQP2 ATL1 ATP1A2 ATP6 AVPR2 AXIN1 BCS1L BRAF BRCA1 BRCA2 BSCL2 BSND CACNA1A CACNA1F CASP8 CAV3 CC2D2A CCM2 CENPJ CFTR CHAT CHRNA2 CLCN7 CLCNKA CLCNKB COA7 COA8 COL17A1 COL4A3 COL4A4 COL4A5 COL9A2 COL9A3 COMP COX10 COX14 COX15 COX20 COX3 COX6B1 COX8A CREBBP CRELD1 CTNNB1 CTSC CYP1B1 CYTB DHH DISC2 DNAI1 DNM2 DSG2 DSP DYSF EDA EDAR EDARADD EDN3 EDNRB EGR2 ELN ENAM ENG EP300 EPM2A ERCC6 ERCC8 ESR1 EYA1 FASTKD2 FBLN5 FGD4 FGF14 FGFR1 FKRP FKTN FOXC1 FRMD7 GAD1 GCH1 GCK GDAP1 GDF6 GLUD1 GPC3 GPC4 H19 HADH HCRT HPS1 HSPB1 HSPB8 IGF2 IGF2R IHH INPP5E INSR IQCB1 ITGB4 JPH1 JUP KCNE1 KCNE2 KCNH2 KCNJ1 KCNJ11 KCNQ1 KCNQ2 KIF1B KIF7 KRAS KRIT1 KRT16 KRT17 KRT81 KRT83 KRT86 LAMA3 LAMB3 LAMC2 LARGE1 LITAF LMNA LRP5 MAP2K1 MAPT MATN3 MBTPS2 MCCC1 MCCC2 MET MID1 MITF MLPH MPZ MRPS16 MSX2 MT-ATP6 MT-CO3 MT-CYB MT-ND1 MT-ND2 MT-ND4 MT-ND4L MT-ND5 MT-ND6 MT-TN MT-TS1 MTMR2 MYH7 MYO7A ND1 ND2 ND4 ND4L ND5 ND6 NEB NEFL NHLRC1 NLGN4X NME1 NPC1 NPC2 NPHP1 NPHP4 NSDHL ORC1 PDGFRL PET100 PEX1 PIK3CA PITX2 PMP22 POLG POMGNT1 POMT1 POMT2 PPM1D PRKAG2 PRKAR1A PRX PSEN1 PTCH1 PTCH2 PTPN11 RB1CC1 RP1 RPGRIP1L RYR1 SAMD12 SBF2 SCN5A SCO1 SDHA SELENON SFTPB SFTPC SH3TC2 SIX1 SIX3 SLC12A1 SLC16A1 SLC22A18 SLC25A38 SLC25A4 SNAI2 SNRPN SOD1 SOX10 SPTA1 SUFU SURF1 TACO1 TCIRG1 TGFB3 TGFBR1 TGFBR2 TMEM216 TMEM67 TNNI3 TP53 TPM2 TPM3 TRNN TRNS1 TSC1 TSC2 USH1C VSX1 WNT3 WT1 YARS ZMPSTE24

Diseases (183) :610921 602347 256450 255310 161800 600376 274150 604352 608594 608629 114480 600919 114550 104300 125800 182600 602481 535000 304800 256000 163950 194070 269700 602522 141500 300071 606072 216360 603284 608393 277180 254210 610353 166600 613090 220110 226650 203780 301050 600204 600969 132400 180849 606217 170650 231300 233420 181500 244400 606482 610193 607450 254130 305100 129490 224900 613265 277580 607678 145900 123700 204650 187300 254780 600630 216400 113650 219100 609311 609307 147950 236670 602482 310700 603513 128230 602485 607831 214400 118100 606762 609975 161400 203300 606595 608673 112500 213300 609968 609254 611528 612347 613695 613693 613688 241200 601820 607554 220400 192500 121200 118210 200990 116860 167200 167210 158000 601098 605588 275210 248370 607634 600274 601104 607078 308800 210200 210210 300000 193510 609227 118200 610498 168500 601382 276900 256030 607734 300495 256700 257220 607625 609583 266900 606996 308050 224690 214100 180500 118220 157640 253280 613150 600858 160980 109400 180100 611560 611561 601068 604563 603830 113900 265120 610913 601596 157170 601678 610021 205950 609283 608890 209850 105400 611584 613266 130600 259700 107970 609192 610168 608091 610688 613690 108120 609285 609284 191100 613254 148300 273395 608323 608612
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.