Human Phenotype Ontology 
Grandparent Node:
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Abnormal myocardium morphology (HP:0001637)help
Parent Node:
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Cardiomyopathy (HP:0001638)help
..Starting node
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Hypertrophic cardiomyopathy (HP:0001639)help
Term ID: 1639
Name: Hypertrophic cardiomyopathy
Synonym: Cardiomyopathy, hypertrophic; Enlarged and thickened heart muscle; HCM
Definition: Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Comments:
Reference: HP:0001639
Genes and Diseases:
 
       Child Nodes:
........expandAsymmetric septal hypertrophy (HP:0001670) help
........expandConcentric hypertrophic cardiomyopathy (HP:0005157) help

 Sister Nodes: 
..expandAtrial cardiomyopathy (HP:0200127) help
..expandDilated cardiomyopathy (HP:0001644) help
..expandHistiocytoid cardiomyopathy (HP:0005152) help
..expandNoncompaction cardiomyopathy (HP:0012817) help
..expandRestrictive cardiomyopathy (HP:0001723) help
..expandRight ventricular cardiomyopathy (HP:0011663) help
..expandTakotsubo cardiomyopathy (HP:0011665) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0001639HP:0001639Hypertrophic cardiomyopathy0AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM154321022612035
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ACADL CL E G H3399900ORPHA16288609576
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ACTC1 CL E G H70612098Familial hypertrophic cardiomyopathy 11612098C2677506OMIM1672143102540
HP:0001639HP:0001639Hypertrophic cardiomyopathy0AGK CL E G H557501369ORPHA134721869610345
HP:0001639HP:0001639Hypertrophic cardiomyopathy0AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001639HP:0001639Hypertrophic cardiomyopathy0AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1242325603100
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ALG1 CL E G H5605279327ORPHA164818294605907
HP:0001639HP:0001639Hypertrophic cardiomyopathy0APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0001639HP:0001639Hypertrophic cardiomyopathy0APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1229851607027
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001639HP:0001639Hypertrophic cardiomyopathy0BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1986939603883
HP:0001639HP:0001639Hypertrophic cardiomyopathy0BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001639HP:0001639Hypertrophic cardiomyopathy0BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001639HP:0001639Hypertrophic cardiomyopathy0BRAF CL E G H673500ORPHA111821097164757
HP:0001639HP:0001639Hypertrophic cardiomyopathy0BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001639HP:0001639Hypertrophic cardiomyopathy0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0001639HP:0001639Hypertrophic cardiomyopathy0BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA151015832606158
HP:0001639HP:0001639Hypertrophic cardiomyopathy0BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM151015832606158
HP:0001639HP:0001639Hypertrophic cardiomyopathy0CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11351527601047
HP:0001639HP:0001639Hypertrophic cardiomyopathy0CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11289688603198
HP:0001639HP:0001639Hypertrophic cardiomyopathy0COA5 CL E G H493753616500Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3616500C4225154OMIM14133848613920
HP:0001639HP:0001639Hypertrophic cardiomyopathy0COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001639HP:0001639Hypertrophic cardiomyopathy0COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001639HP:0001639Hypertrophic cardiomyopathy0COG7 CL E G H9194979333ORPHA145618622606978
HP:0001639HP:0001639Hypertrophic cardiomyopathy0COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001639HP:0001639Hypertrophic cardiomyopathy0COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001639HP:0001639Hypertrophic cardiomyopathy0COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001639HP:0001639Hypertrophic cardiomyopathy0COX15 CL E G H1355255241ORPHA13572263603646
HP:0001639HP:0001639Hypertrophic cardiomyopathy0COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001639HP:0001639Hypertrophic cardiomyopathy0COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001639HP:0001639Hypertrophic cardiomyopathy0COX7B CL E G H13492556ORPHA11812291300885
HP:0001639HP:0001639Hypertrophic cardiomyopathy0COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001639HP:0001639Hypertrophic cardiomyopathy0CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12732389123590
HP:0001639HP:0001639Hypertrophic cardiomyopathy0DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM190514198605367
HP:0001639HP:0001639Hypertrophic cardiomyopathy0EMD CL E G H201098863ORPHA16953331300384
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM16013579613871
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FHL1 CL E G H227398863ORPHA15863702300163
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM15863702300163
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1403796164810
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0001639HP:0001639Hypertrophic cardiomyopathy0GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM19374298611458
HP:0001639HP:0001639Hypertrophic cardiomyopathy0GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM1123629670607840
HP:0001639HP:0001639Hypertrophic cardiomyopathy0HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM12294799601609
HP:0001639HP:0001639Hypertrophic cardiomyopathy0HADHA CL E G H30305ORPHA17924801600890
HP:0001639HP:0001639Hypertrophic cardiomyopathy0HCCS CL E G H30522556ORPHA12344837300056
HP:0001639HP:0001639Hypertrophic cardiomyopathy0HLA-B CL E G H31063287ORPHA1294932142830
HP:0001639HP:0001639Hypertrophic cardiomyopathy0HRAS CL E G H32653071ORPHA16225173190020
HP:0001639HP:0001639Hypertrophic cardiomyopathy0HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM16225173190020
HP:0001639HP:0001639Hypertrophic cardiomyopathy0HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001639HP:0001639Hypertrophic cardiomyopathy0IL12B CL E G H35933287ORPHA12165970161561
HP:0001639HP:0001639Hypertrophic cardiomyopathy0KRAS CL E G H3845609942Noonan syndrome 3609942C1860991OMIM14806407190070
HP:0001639HP:0001639Hypertrophic cardiomyopathy0LAMP2 CL E G H392034587ORPHA18076501309060
HP:0001639HP:0001639Hypertrophic cardiomyopathy0LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM18076501309060
HP:0001639HP:0001639Hypertrophic cardiomyopathy0LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001639HP:0001639Hypertrophic cardiomyopathy0LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MAP2K2 CL E G H5605638ORPHA17206842601263
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MLX CL E G H69453287ORPHA13111645602976
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM110910379607118
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MRPL44 CL E G H65080615395Combined oxidative phosphorylation deficiency 16615395C3809339OMIM115216650611849
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM163819261614667
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MYBPC3 CL E G H4607115197Familial hypertrophic cardiomyopathy 4115197C1861862OMIM133177551600958
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MYH6 CL E G H4624613251Familial hypertrophic cardiomyopathy 14613251C2750467OMIM121167576160710
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MYH7 CL E G H4625255160Myopathy, myosin storage, autosomal recessive255160C1850709OMIM141067577160760
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MYL3 CL E G H4634608751Familial hypertrophic cardiomyopathy 8608751C1837471OMIM13467584160790
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NAGA CL E G H466879281ORPHA12307631104170
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFB11 CL E G H545392556ORPHA120920372300403
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NEK8 CL E G H284086615415Renal-hepatic-pancreatic dysplasia 2615415C3809434OMIM127913387609799
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NF1 CL E G H4763638ORPHA1123927765613113
HP:0001639HP:0001639Hypertrophic cardiomyopathy0OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0001639HP:0001639Hypertrophic cardiomyopathy0PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001639HP:0001639Hypertrophic cardiomyopathy0PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001639HP:0001639Hypertrophic cardiomyopathy0PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001639HP:0001639Hypertrophic cardiomyopathy0PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11669236601487
HP:0001639HP:0001639Hypertrophic cardiomyopathy0PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA12159282600590
HP:0001639HP:0001639Hypertrophic cardiomyopathy0PRKAG2 CL E G H51422600858Familial hypertrophic cardiomyopathy 6600858C1833236OMIM110799386602743
HP:0001639HP:0001639Hypertrophic cardiomyopathy0PTPN11 CL E G H5781500ORPHA18549644176876
HP:0001639HP:0001639Hypertrophic cardiomyopathy0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0001639HP:0001639Hypertrophic cardiomyopathy0RAF1 CL E G H5894500ORPHA19909829164760
HP:0001639HP:0001639Hypertrophic cardiomyopathy0RAF1 CL E G H5894611554LEOPARD syndrome 2611554C1969056OMIM19909829164760
HP:0001639HP:0001639Hypertrophic cardiomyopathy0RIT1 CL E G H6016615355Noonan syndrome 8615355C3809233OMIM126910023609591
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SDHA CL E G H63893208ORPHA1250310680600857
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SDHAF1 CL E G H6440963208ORPHA17733867612848
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SDHB CL E G H63903208ORPHA1124910681185470
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SDHD CL E G H63923208ORPHA168610683602690
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA145215454602775
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM145215454602775
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SLC25A4 CL E G H2911369ORPHA133310990103220
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM133310990103220
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SOS1 CL E G H6654610733Noonan syndrome 4610733C1853120OMIM1150311187182530
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM128426887612758
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM111577300394
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TMEM126B CL E G H55863618250MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29618250OMIM111630883615533
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM130011943191040
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TNNT2 CL E G H7139115195Familial hypertrophic cardiomyopathy 2115195C1861864OMIM181711949191045
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TPM1 CL E G H7168115196Familial hypertrophic cardiomyopathy 3115196C1861863OMIM176712010191010
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TTN CL E G H7273613765Familial hypertrophic cardiomyopathy 9613765C1861065OMIM12750312403188840
HP:0001639HP:0001639Hypertrophic cardiomyopathy0VCL CL E G H7414613255Familial hypertrophic cardiomyopathy 15613255C2750459OMIM1117512665193065
HP:0001639HP:0001639Hypertrophic cardiomyopathy0VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM127418179610034
HP:0001639HP:0001670Asymmetric septal hypertrophy1AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM154321022612035
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM154321022612035
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1AARS2 CL E G H57505614096Combined oxidative phosphorylation deficiency 8614096C3279793OMIM154321022612035
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001639HP:0001670Asymmetric septal hypertrophy1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ACAD9 CL E G H2897699901ORPHA177121497611103
HP:0001639HP:0001670Asymmetric septal hypertrophy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ACAD9 CL E G H28976611126Acyl-CoA dehydrogenase family, member 9, deficiency of611126C1970173OMIM177121497611103
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ACADL CL E G H3399900ORPHA16288609576
HP:0001639HP:0001670Asymmetric septal hypertrophy1ACADL CL E G H3399900ORPHA16288609576
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ACADL CL E G H3399900ORPHA16288609576
HP:0001639HP:0001670Asymmetric septal hypertrophy1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ACADVL CL E G H37201475Very long chain acyl-CoA dehydrogenase deficiency201475C3887523OMIM1159492609575
HP:0001639HP:0001670Asymmetric septal hypertrophy1ACTC1 CL E G H70612098Familial hypertrophic cardiomyopathy 11612098C2677506OMIM1672143102540
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ACTC1 CL E G H70612098Familial hypertrophic cardiomyopathy 11612098C2677506OMIM1672143102540
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ACTC1 CL E G H70612098Familial hypertrophic cardiomyopathy 11612098C2677506OMIM1672143102540
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1AGK CL E G H557501369ORPHA134721869610345
HP:0001639HP:0001670Asymmetric septal hypertrophy1AGK CL E G H557501369ORPHA134721869610345
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1AGK CL E G H557501369ORPHA134721869610345
HP:0001639HP:0001670Asymmetric septal hypertrophy1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1AGK CL E G H55750212350Cataract and cardiomyopathy212350C1859317OMIM134721869610345
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1242325603100
HP:0001639HP:0001670Asymmetric septal hypertrophy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1242325603100
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1AGPAT2 CL E G H10555528Acute myeloblastic leukemia type 3ORPHA1242325603100
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ALG1 CL E G H5605279327ORPHA164818294605907
HP:0001639HP:0001670Asymmetric septal hypertrophy1ALG1 CL E G H5605279327ORPHA164818294605907
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ALG1 CL E G H5605279327ORPHA164818294605907
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0001639HP:0001670Asymmetric septal hypertrophy1APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1APOPT1 CL E G H84334436271ORPHA119720492616003
HP:0001639HP:0001670Asymmetric septal hypertrophy1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1APOPT1 CL E G H84334220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM119720492616003
HP:0001639HP:0001670Asymmetric septal hypertrophy1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ATP5F1E CL E G H514614053Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3614053C3279708OMIM144838606153
HP:0001639HP:0001670Asymmetric septal hypertrophy1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1229851607027
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1229851607027
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ATP6V1A CL E G H523617403CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID617403C4479409OMIM1229851607027
HP:0001639HP:0001670Asymmetric septal hypertrophy1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ATPAF2 CL E G H91647604273Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1604273C2700431OMIM128118802608918
HP:0001639HP:0001670Asymmetric septal hypertrophy1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1986939603883
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1986939603883
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1BAG3 CL E G H9531612954Myofibrillar myopathy, BAG3-related612954C2751831OMIM1986939603883
HP:0001639HP:0001670Asymmetric septal hypertrophy1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1BCS1L CL E G H617124000Mitochondrial complex III deficiency124000C1852372OMIM14131020603647
HP:0001639HP:0001670Asymmetric septal hypertrophy1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1BOLA3 CL E G H388962614299Multiple mitochondrial dysfunctions syndrome 2614299C3280378OMIM110224415613183
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1BRAF CL E G H673500ORPHA111821097164757
HP:0001639HP:0001670Asymmetric septal hypertrophy1BRAF CL E G H673500ORPHA111821097164757
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1BRAF CL E G H673500ORPHA111821097164757
HP:0001639HP:0001670Asymmetric septal hypertrophy1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1BRAF CL E G H673115150Cardiofaciocutaneous syndrome 1115150CN029449OMIM111821097164757
HP:0001639HP:0001670Asymmetric septal hypertrophy1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM111821097164757
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA151015832606158
HP:0001639HP:0001670Asymmetric septal hypertrophy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA151015832606158
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1BSCL2 CL E G H26580528Acute myeloblastic leukemia type 3ORPHA151015832606158
HP:0001639HP:0001670Asymmetric septal hypertrophy1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM151015832606158
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM151015832606158
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1BSCL2 CL E G H26580269700Congenital generalized lipodystrophy type 2269700C1720863OMIM151015832606158
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11351527601047
HP:0001639HP:0001670Asymmetric septal hypertrophy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11351527601047
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1CAV1 CL E G H857528Acute myeloblastic leukemia type 3ORPHA11351527601047
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11289688603198
HP:0001639HP:0001670Asymmetric septal hypertrophy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11289688603198
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1CAVIN1 CL E G H284119528Acute myeloblastic leukemia type 3ORPHA11289688603198
HP:0001639HP:0001670Asymmetric septal hypertrophy1COA5 CL E G H493753616500Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3616500C4225154OMIM14133848613920
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1COA5 CL E G H493753616500Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3616500C4225154OMIM14133848613920
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1COA5 CL E G H493753616500Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3616500C4225154OMIM14133848613920
HP:0001639HP:0001670Asymmetric septal hypertrophy1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1COA6 CL E G H388753616501Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4616501C4225304OMIM110018025614772
HP:0001639HP:0001670Asymmetric septal hypertrophy1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1COA7 CL E G H65260220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM15825716615623
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1COG7 CL E G H9194979333ORPHA145618622606978
HP:0001639HP:0001670Asymmetric septal hypertrophy1COG7 CL E G H9194979333ORPHA145618622606978
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1COG7 CL E G H9194979333ORPHA145618622606978
HP:0001639HP:0001670Asymmetric septal hypertrophy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1COQ2 CL E G H27235607426Coenzyme Q10 deficiency, primary 1607426C1843920OMIM134625223609825
HP:0001639HP:0001670Asymmetric septal hypertrophy1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1COX10 CL E G H1352220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13562260602125
HP:0001639HP:0001670Asymmetric septal hypertrophy1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1COX14 CL E G H84987220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM13828216614478
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001639HP:0001670Asymmetric septal hypertrophy1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1COX15 CL E G H1355255241ORPHA13572263603646
HP:0001639HP:0001670Asymmetric septal hypertrophy1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1COX20 CL E G H116228220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM120626970614698
HP:0001639HP:0001670Asymmetric septal hypertrophy1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1COX6B1 CL E G H1340220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1682280124089
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1COX7B CL E G H13492556ORPHA11812291300885
HP:0001639HP:0001670Asymmetric septal hypertrophy1COX7B CL E G H13492556ORPHA11812291300885
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1COX7B CL E G H13492556ORPHA11812291300885
HP:0001639HP:0001670Asymmetric septal hypertrophy1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1COX8A CL E G H1351220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM1322294123870
HP:0001639HP:0001670Asymmetric septal hypertrophy1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12732389123590
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12732389123590
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1CRYAB CL E G H1410608810Alpha-B crystallinopathy608810C1837317OMIM12732389123590
HP:0001639HP:0001670Asymmetric septal hypertrophy1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1DLD CL E G H1738246900Maple syrup urine disease, type 3246900CN043137OMIM15202898238331
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001639HP:0001670Asymmetric septal hypertrophy1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ECHS1 CL E G H1892255241ORPHA14313151602292
HP:0001639HP:0001670Asymmetric septal hypertrophy1ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM190514198605367
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM190514198605367
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ELAC2 CL E G H60528615440Combined oxidative phosphorylation deficiency 17615440C3809526OMIM190514198605367
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1EMD CL E G H201098863ORPHA16953331300384
HP:0001639HP:0001670Asymmetric septal hypertrophy1EMD CL E G H201098863ORPHA16953331300384
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1EMD CL E G H201098863ORPHA16953331300384
HP:0001639HP:0001670Asymmetric septal hypertrophy1FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM16013579613871
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM16013579613871
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FAH CL E G H2184276700Tyrosinemia type I276700C0268490OMIM16013579613871
HP:0001639HP:0001670Asymmetric septal hypertrophy1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FASTKD2 CL E G H22868220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM140129160612322
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FHL1 CL E G H227398863ORPHA15863702300163
HP:0001639HP:0001670Asymmetric septal hypertrophy1FHL1 CL E G H227398863ORPHA15863702300163
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FHL1 CL E G H227398863ORPHA15863702300163
HP:0001639HP:0001670Asymmetric septal hypertrophy1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM15863702300163
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM15863702300163
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FHL1 CL E G H2273300696Myopathy with postural muscle atrophy, X-linked300696C2678055OMIM15863702300163
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1403796164810
HP:0001639HP:0001670Asymmetric septal hypertrophy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1403796164810
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FOS CL E G H2353528Acute myeloblastic leukemia type 3ORPHA1403796164810
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001639HP:0001670Asymmetric septal hypertrophy1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FOXRED1 CL E G H55572255241ORPHA132326927613622
HP:0001639HP:0001670Asymmetric septal hypertrophy1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FTO CL E G H79068612938Growth retardation, developmental delay, coarse facies, and early death612938C2752001OMIM124324678610966
HP:0001639HP:0001670Asymmetric septal hypertrophy1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FXN CL E G H2395229300Friedreich ataxia 1229300C1856689OMIM11583951606829
HP:0001639HP:0001670Asymmetric septal hypertrophy1GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM19374298611458
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM19374298611458
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1GLB1 CL E G H2720230500Infantile GM1 gangliosidosis230500C0268271OMIM19374298611458
HP:0001639HP:0001670Asymmetric septal hypertrophy1GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM1123629670607840
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM1123629670607840
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1GNPTAB CL E G H79158252500I cell disease252500C2673377OMIM1123629670607840
HP:0001639HP:0001670Asymmetric septal hypertrophy1HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM12294799601609
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM12294799601609
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1HADH CL E G H3033231530Deficiency of 3-hydroxyacyl-CoA dehydrogenase231530C1291230OMIM12294799601609
HP:0001639HP:0001670Asymmetric septal hypertrophy1HADHA CL E G H30305ORPHA17924801600890
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1HADHA CL E G H30305ORPHA17924801600890
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1HADHA CL E G H30305ORPHA17924801600890
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1HCCS CL E G H30522556ORPHA12344837300056
HP:0001639HP:0001670Asymmetric septal hypertrophy1HCCS CL E G H30522556ORPHA12344837300056
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1HCCS CL E G H30522556ORPHA12344837300056
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1HLA-B CL E G H31063287ORPHA1294932142830
HP:0001639HP:0001670Asymmetric septal hypertrophy1HLA-B CL E G H31063287ORPHA1294932142830
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1HLA-B CL E G H31063287ORPHA1294932142830
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1HRAS CL E G H32653071ORPHA16225173190020
HP:0001639HP:0001670Asymmetric septal hypertrophy1HRAS CL E G H32653071ORPHA16225173190020
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1HRAS CL E G H32653071ORPHA16225173190020
HP:0001639HP:0001670Asymmetric septal hypertrophy1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM16225173190020
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM16225173190020
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1HRAS CL E G H3265218040Costello syndrome218040C0587248OMIM16225173190020
HP:0001639HP:0001670Asymmetric septal hypertrophy1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1HSD17B10 CL E G H30283004382-methyl-3-hydroxybutyric aciduria300438C3266731OMIM12564800300256
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1IL12B CL E G H35933287ORPHA12165970161561
HP:0001639HP:0001670Asymmetric septal hypertrophy1IL12B CL E G H35933287ORPHA12165970161561
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1IL12B CL E G H35933287ORPHA12165970161561
HP:0001639HP:0001670Asymmetric septal hypertrophy1KRAS CL E G H3845609942Noonan syndrome 3609942C1860991OMIM14806407190070
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1KRAS CL E G H3845609942Noonan syndrome 3609942C1860991OMIM14806407190070
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1KRAS CL E G H3845609942Noonan syndrome 3609942C1860991OMIM14806407190070
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1LAMP2 CL E G H392034587ORPHA18076501309060
HP:0001639HP:0001670Asymmetric septal hypertrophy1LAMP2 CL E G H392034587ORPHA18076501309060
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1LAMP2 CL E G H392034587ORPHA18076501309060
HP:0001639HP:0001670Asymmetric septal hypertrophy1LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM18076501309060
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM18076501309060
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1LAMP2 CL E G H3920300257Danon disease300257C0878677OMIM18076501309060
HP:0001639HP:0001670Asymmetric septal hypertrophy1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1LIAS CL E G H11019614462Pyruvate dehydrogenase lipoic acid synthetase deficiency614462C3280887OMIM141016429607031
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001639HP:0001670Asymmetric septal hypertrophy1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1LIPT1 CL E G H51601255241ORPHA112429569610284
HP:0001639HP:0001670Asymmetric septal hypertrophy1MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MAP2K1 CL E G H5604615279Cardiofaciocutaneous syndrome 3615279C3809006OMIM14936840176872
HP:0001639HP:0001670Asymmetric septal hypertrophy1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM14936840176872
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MAP2K2 CL E G H5605638ORPHA17206842601263
HP:0001639HP:0001670Asymmetric septal hypertrophy1MAP2K2 CL E G H5605638ORPHA17206842601263
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MAP2K2 CL E G H5605638ORPHA17206842601263
HP:0001639HP:0001670Asymmetric septal hypertrophy1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MIPEP CL E G H4285617228Combined oxidative phosphorylation deficiency 31617228C4310661OMIM12647104602241
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MLX CL E G H69453287ORPHA13111645602976
HP:0001639HP:0001670Asymmetric septal hypertrophy1MLX CL E G H69453287ORPHA13111645602976
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MLX CL E G H69453287ORPHA13111645602976
HP:0001639HP:0001670Asymmetric septal hypertrophy1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MLYCD CL E G H23417248360Deficiency of malonyl-CoA decarboxylase248360C0342793OMIM14827150606761
HP:0001639HP:0001670Asymmetric septal hypertrophy1MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM110910379607118
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM110910379607118
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MRPL3 CL E G H11222614582Combined oxidative phosphorylation deficiency 9614582C3281234OMIM110910379607118
HP:0001639HP:0001670Asymmetric septal hypertrophy1MRPL44 CL E G H65080615395Combined oxidative phosphorylation deficiency 16615395C3809339OMIM115216650611849
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MRPL44 CL E G H65080615395Combined oxidative phosphorylation deficiency 16615395C3809339OMIM115216650611849
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MRPL44 CL E G H65080615395Combined oxidative phosphorylation deficiency 16615395C3809339OMIM115216650611849
HP:0001639HP:0001670Asymmetric septal hypertrophy1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MRPS22 CL E G H56945611719Combined oxidative phosphorylation deficiency 5611719C2673642OMIM118814508605810
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-TE CL E G H4556225Radial ray agenesisORPHA17479590025
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-TK CL E G H45661349Chromosome 9, partial monosomy 9pC2931695ORPHA17489590060
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-TK CL E G H4566225Radial ray agenesisORPHA17489590060
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-TL1 CL E G H4567225Radial ray agenesisORPHA17490590050
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-TN CL E G H4570220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17493590010
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-TS1 CL E G H4574220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17497590080
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001639HP:0001670Asymmetric septal hypertrophy1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MTFMT CL E G H123263255241ORPHA124329666611766
HP:0001639HP:0001670Asymmetric septal hypertrophy1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM163819261614667
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM163819261614667
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MTO1 CL E G H25821614702Combined oxidative phosphorylation deficiency 10614702C3553529OMIM163819261614667
HP:0001639HP:0001670Asymmetric septal hypertrophy1MYBPC3 CL E G H4607115197Familial hypertrophic cardiomyopathy 4115197C1861862OMIM133177551600958
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MYBPC3 CL E G H4607115197Familial hypertrophic cardiomyopathy 4115197C1861862OMIM133177551600958
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MYBPC3 CL E G H4607115197Familial hypertrophic cardiomyopathy 4115197C1861862OMIM133177551600958
HP:0001639HP:0001670Asymmetric septal hypertrophy1MYH6 CL E G H4624613251Familial hypertrophic cardiomyopathy 14613251C2750467OMIM121167576160710
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MYH6 CL E G H4624613251Familial hypertrophic cardiomyopathy 14613251C2750467OMIM121167576160710
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MYH6 CL E G H4624613251Familial hypertrophic cardiomyopathy 14613251C2750467OMIM121167576160710
HP:0001639HP:0001670Asymmetric septal hypertrophy1MYH7 CL E G H4625255160Myopathy, myosin storage, autosomal recessive255160C1850709OMIM141067577160760
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MYH7 CL E G H4625255160Myopathy, myosin storage, autosomal recessive255160C1850709OMIM141067577160760
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MYH7 CL E G H4625255160Myopathy, myosin storage, autosomal recessive255160C1850709OMIM141067577160760
HP:0001639HP:0001670Asymmetric septal hypertrophy1MYL3 CL E G H4634608751Familial hypertrophic cardiomyopathy 8608751C1837471OMIM13467584160790
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MYL3 CL E G H4634608751Familial hypertrophic cardiomyopathy 8608751C1837471OMIM13467584160790
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MYL3 CL E G H4634608751Familial hypertrophic cardiomyopathy 8608751C1837471OMIM13467584160790
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NAGA CL E G H466879281ORPHA12307631104170
HP:0001639HP:0001670Asymmetric septal hypertrophy1NAGA CL E G H466879281ORPHA12307631104170
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NAGA CL E G H466879281ORPHA12307631104170
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFA10 CL E G H4705255241ORPHA14217684603835
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFA12 CL E G H55967255241ORPHA19223987614530
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFA13 CL E G H51079255241ORPHA16517194609435
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFA2 CL E G H4695255241ORPHA1957685602137
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFA4 CL E G H4697255241ORPHA1967687603833
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFA9 CL E G H4704255241ORPHA12357693603834
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFAF1 CL E G H51103618234MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11618234OMIM115418828606934
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFAF2 CL E G H91942255241ORPHA113228086609653
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFAF5 CL E G H79133255241ORPHA138315899612360
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFAF6 CL E G H137682255241ORPHA128128625612392
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFB11 CL E G H545392556ORPHA120920372300403
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFB11 CL E G H545392556ORPHA120920372300403
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFB11 CL E G H545392556ORPHA120920372300403
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFS1 CL E G H4719255241ORPHA14247707157655
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFS2 CL E G H4720255241ORPHA12477708602985
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFS3 CL E G H4722255241ORPHA11477710603846
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFS4 CL E G H4724255241ORPHA11397711602694
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFS4 CL E G H4724252010Mitochondrial complex I deficiency252010C1838979OMIM11397711602694
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFS7 CL E G H374291255241ORPHA12157714601825
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFS8 CL E G H4728255241ORPHA11297715602141
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFV1 CL E G H4723255241ORPHA13157716161015
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001639HP:0001670Asymmetric septal hypertrophy1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NDUFV2 CL E G H4729255241ORPHA12297717600532
HP:0001639HP:0001670Asymmetric septal hypertrophy1NEK8 CL E G H284086615415Renal-hepatic-pancreatic dysplasia 2615415C3809434OMIM127913387609799
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NEK8 CL E G H284086615415Renal-hepatic-pancreatic dysplasia 2615415C3809434OMIM127913387609799
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NEK8 CL E G H284086615415Renal-hepatic-pancreatic dysplasia 2615415C3809434OMIM127913387609799
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NF1 CL E G H4763638ORPHA1123927765613113
HP:0001639HP:0001670Asymmetric septal hypertrophy1NF1 CL E G H4763638ORPHA1123927765613113
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NF1 CL E G H4763638ORPHA1123927765613113
HP:0001639HP:0001670Asymmetric septal hypertrophy1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1OPA1 CL E G H4976616896Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)616896C4225163OMIM112248140605290
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001639HP:0001670Asymmetric septal hypertrophy1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1PDHA1 CL E G H5160255241ORPHA16798806300502
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001639HP:0001670Asymmetric septal hypertrophy1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1PET100 CL E G H100131801255241ORPHA17640038614770
HP:0001639HP:0001670Asymmetric septal hypertrophy1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1PET100 CL E G H100131801220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM17640038614770
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11669236601487
HP:0001639HP:0001670Asymmetric septal hypertrophy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11669236601487
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1PPARG CL E G H5468528Acute myeloblastic leukemia type 3ORPHA11669236601487
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA12159282600590
HP:0001639HP:0001670Asymmetric septal hypertrophy1PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA12159282600590
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1PPP1CB CL E G H55002701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA12159282600590
HP:0001639HP:0001670Asymmetric septal hypertrophy1PRKAG2 CL E G H51422600858Familial hypertrophic cardiomyopathy 6600858C1833236OMIM110799386602743
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1PRKAG2 CL E G H51422600858Familial hypertrophic cardiomyopathy 6600858C1833236OMIM110799386602743
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1PRKAG2 CL E G H51422600858Familial hypertrophic cardiomyopathy 6600858C1833236OMIM110799386602743
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1PTPN11 CL E G H5781500ORPHA18549644176876
HP:0001639HP:0001670Asymmetric septal hypertrophy1PTPN11 CL E G H5781500ORPHA18549644176876
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1PTPN11 CL E G H5781500ORPHA18549644176876
HP:0001639HP:0001670Asymmetric septal hypertrophy1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM18549644176876
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1RAF1 CL E G H5894500ORPHA19909829164760
HP:0001639HP:0001670Asymmetric septal hypertrophy1RAF1 CL E G H5894500ORPHA19909829164760
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1RAF1 CL E G H5894500ORPHA19909829164760
HP:0001639HP:0001670Asymmetric septal hypertrophy1RAF1 CL E G H5894611554LEOPARD syndrome 2611554C1969056OMIM19909829164760
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1RAF1 CL E G H5894611554LEOPARD syndrome 2611554C1969056OMIM19909829164760
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1RAF1 CL E G H5894611554LEOPARD syndrome 2611554C1969056OMIM19909829164760
HP:0001639HP:0001670Asymmetric septal hypertrophy1RIT1 CL E G H6016615355Noonan syndrome 8615355C3809233OMIM126910023609591
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1RIT1 CL E G H6016615355Noonan syndrome 8615355C3809233OMIM126910023609591
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1RIT1 CL E G H6016615355Noonan syndrome 8615355C3809233OMIM126910023609591
HP:0001639HP:0001670Asymmetric septal hypertrophy1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SCO1 CL E G H6341220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM121210603603644
HP:0001639HP:0001670Asymmetric septal hypertrophy1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SCO2 CL E G H9997604377Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency604377C1858424OMIM170110604604272
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SDHA CL E G H63893208ORPHA1250310680600857
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001639HP:0001670Asymmetric septal hypertrophy1SDHA CL E G H63893208ORPHA1250310680600857
HP:0001639HP:0001670Asymmetric septal hypertrophy1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SDHA CL E G H63893208ORPHA1250310680600857
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SDHA CL E G H6389255241ORPHA1250310680600857
HP:0001639HP:0001670Asymmetric septal hypertrophy1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SDHA CL E G H6389252011Mitochondrial complex II deficiency252011C1855008OMIM1250310680600857
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SDHAF1 CL E G H6440963208ORPHA17733867612848
HP:0001639HP:0001670Asymmetric septal hypertrophy1SDHAF1 CL E G H6440963208ORPHA17733867612848
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SDHAF1 CL E G H6440963208ORPHA17733867612848
HP:0001639HP:0001670Asymmetric septal hypertrophy1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SDHAF1 CL E G H644096252011Mitochondrial complex II deficiency252011C1855008OMIM17733867612848
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SDHB CL E G H63903208ORPHA1124910681185470
HP:0001639HP:0001670Asymmetric septal hypertrophy1SDHB CL E G H63903208ORPHA1124910681185470
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SDHB CL E G H63903208ORPHA1124910681185470
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SDHD CL E G H63923208ORPHA168610683602690
HP:0001639HP:0001670Asymmetric septal hypertrophy1SDHD CL E G H63923208ORPHA168610683602690
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SDHD CL E G H63923208ORPHA168610683602690
HP:0001639HP:0001670Asymmetric septal hypertrophy1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SDHD CL E G H6392252011Mitochondrial complex II deficiency252011C1855008OMIM168610683602690
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA145215454602775
HP:0001639HP:0001670Asymmetric septal hypertrophy1SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA145215454602775
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SHOC2 CL E G H80362701Noonan syndrome-like disorder with loose anagen hairC3501846ORPHA145215454602775
HP:0001639HP:0001670Asymmetric septal hypertrophy1SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM145215454602775
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM145215454602775
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SHOC2 CL E G H8036607721Noonan syndrome-like disorder with loose anagen hair 1607721C1843181OMIM145215454602775
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001639HP:0001670Asymmetric septal hypertrophy1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SLC19A3 CL E G H80704255241ORPHA156316266606152
HP:0001639HP:0001670Asymmetric septal hypertrophy1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SLC22A5 CL E G H6584212140Renal carnitine transport defect212140C0342788OMIM1102710969603377
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001639HP:0001670Asymmetric septal hypertrophy1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SLC25A3 CL E G H525091130ORPHA117610989600370
HP:0001639HP:0001670Asymmetric septal hypertrophy1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SLC25A3 CL E G H5250610773Mitochondrial phosphate carrier deficiency610773C1835845OMIM117610989600370
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SLC25A4 CL E G H2911369ORPHA133310990103220
HP:0001639HP:0001670Asymmetric septal hypertrophy1SLC25A4 CL E G H2911369ORPHA133310990103220
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SLC25A4 CL E G H2911369ORPHA133310990103220
HP:0001639HP:0001670Asymmetric septal hypertrophy1SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM133310990103220
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM133310990103220
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SLC25A4 CL E G H291615418Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive615418C3809443OMIM133310990103220
HP:0001639HP:0001670Asymmetric septal hypertrophy1SOS1 CL E G H6654610733Noonan syndrome 4610733C1853120OMIM1150311187182530
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SOS1 CL E G H6654610733Noonan syndrome 4610733C1853120OMIM1150311187182530
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SOS1 CL E G H6654610733Noonan syndrome 4610733C1853120OMIM1150311187182530
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001639HP:0001670Asymmetric septal hypertrophy1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SURF1 CL E G H6834255241ORPHA153211474185620
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001639HP:0001670Asymmetric septal hypertrophy1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TACO1 CL E G H51204255241ORPHA111724316612958
HP:0001639HP:0001670Asymmetric septal hypertrophy1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TACO1 CL E G H51204220110Hepatic failure, early-onset, and neurologic disorder due to cytochrome C oxidase deficiency220110C0268237OMIM111724316612958
HP:0001639HP:0001670Asymmetric septal hypertrophy1TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM128426887612758
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM128426887612758
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TAPT1 CL E G H202018616897Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type616897C4225162OMIM128426887612758
HP:0001639HP:0001670Asymmetric septal hypertrophy1TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM111577300394
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM111577300394
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TAZ CL E G H69013020603-Methylglutaconic aciduria type 2302060C0574083OMIM111577300394
HP:0001639HP:0001670Asymmetric septal hypertrophy1TMEM126B CL E G H55863618250MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29618250OMIM111630883615533
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TMEM126B CL E G H55863618250MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29618250OMIM111630883615533
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TMEM126B CL E G H55863618250MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29618250OMIM111630883615533
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001639HP:0001670Asymmetric septal hypertrophy1TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TMEM70 CL E G H549681194ORPHA132526050612418
HP:0001639HP:0001670Asymmetric septal hypertrophy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TMEM70 CL E G H54968614052Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2614052C3279699OMIM132526050612418
HP:0001639HP:0001670Asymmetric septal hypertrophy1TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM130011943191040
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM130011943191040
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TNNC1 CL E G H7134613243Familial hypertrophic cardiomyopathy 13613243C2750472OMIM130011943191040
HP:0001639HP:0001670Asymmetric septal hypertrophy1TNNT2 CL E G H7139115195Familial hypertrophic cardiomyopathy 2115195C1861864OMIM181711949191045
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TNNT2 CL E G H7139115195Familial hypertrophic cardiomyopathy 2115195C1861864OMIM181711949191045
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TNNT2 CL E G H7139115195Familial hypertrophic cardiomyopathy 2115195C1861864OMIM181711949191045
HP:0001639HP:0001670Asymmetric septal hypertrophy1TPM1 CL E G H7168115196Familial hypertrophic cardiomyopathy 3115196C1861863OMIM176712010191010
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TPM1 CL E G H7168115196Familial hypertrophic cardiomyopathy 3115196C1861863OMIM176712010191010
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TPM1 CL E G H7168115196Familial hypertrophic cardiomyopathy 3115196C1861863OMIM176712010191010
HP:0001639HP:0001670Asymmetric septal hypertrophy1TTN CL E G H7273613765Familial hypertrophic cardiomyopathy 9613765C1861065OMIM12750312403188840
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TTN CL E G H7273613765Familial hypertrophic cardiomyopathy 9613765C1861065OMIM12750312403188840
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TTN CL E G H7273613765Familial hypertrophic cardiomyopathy 9613765C1861065OMIM12750312403188840
HP:0001639HP:0001670Asymmetric septal hypertrophy1VCL CL E G H7414613255Familial hypertrophic cardiomyopathy 15613255C2750459OMIM1117512665193065
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1VCL CL E G H7414613255Familial hypertrophic cardiomyopathy 15613255C2750459OMIM1117512665193065
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1VCL CL E G H7414613255Familial hypertrophic cardiomyopathy 15613255C2750459OMIM1117512665193065
HP:0001639HP:0001670Asymmetric septal hypertrophy1VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM127418179610034
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM127418179610034
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1VPS33A CL E G H65082617303Mucopolysaccharidosis-plus syndrome617303C4310627OMIM127418179610034
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ABCC9 CL E G H100601517ORPHA0150760601439
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ADAR CL E G H10351ORPHA01122225146920
HP:0001639HP:0001639Hypertrophic cardiomyopathy0AIP CL E G H9049963ORPHA0867358605555
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ANKS6 CL E G H203286615382Nephronophthisis 16615382C3809320OMIM036126724615370
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ATAD3A CL E G H55210496790ORPHA039925567612316
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM039925567612316
HP:0001639HP:0001639Hypertrophic cardiomyopathy0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA0249961605681
HP:0001639HP:0001639Hypertrophic cardiomyopathy0BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0001639HP:0001639Hypertrophic cardiomyopathy0BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001639HP:0001639Hypertrophic cardiomyopathy0BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001639HP:0001639Hypertrophic cardiomyopathy0BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001639HP:0001639Hypertrophic cardiomyopathy0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA02292586603432
HP:0001639HP:0001639Hypertrophic cardiomyopathy0COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM029119693612898
HP:0001639HP:0001639Hypertrophic cardiomyopathy0CPT1A CL E G H1374156ORPHA08372328600528
HP:0001639HP:0001639Hypertrophic cardiomyopathy0DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM09762770125660
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA09663327130160
HP:0001639HP:0001639Hypertrophic cardiomyopathy0ERCC4 CL E G H207284ORPHA07263436133520
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FANCA CL E G H217584ORPHA043963582607139
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FANCB CL E G H218784ORPHA06333583300515
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FANCC CL E G H217684ORPHA017433584613899
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FANCD2 CL E G H217784ORPHA012623585613984
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FANCE CL E G H217884ORPHA05273586613976
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FANCF CL E G H218884ORPHA04343587613897
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FANCG CL E G H218984ORPHA07903588602956
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FANCI CL E G H5521584ORPHA0150625568611360
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FANCL CL E G H5512084ORPHA054220748608111
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FANCM CL E G H5769784ORPHA0204523168609644
HP:0001639HP:0001639Hypertrophic cardiomyopathy0FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001639HP:0001639Hypertrophic cardiomyopathy0GATA4 CL E G H2626251071ORPHA07774173600576
HP:0001639HP:0001639Hypertrophic cardiomyopathy0GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0001639HP:0001639Hypertrophic cardiomyopathy0GPR101 CL E G H83550963ORPHA021114963300393
HP:0001639HP:0001639Hypertrophic cardiomyopathy0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA01784659601679
HP:0001639HP:0001639Hypertrophic cardiomyopathy0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA02664661604318
HP:0001639HP:0001639Hypertrophic cardiomyopathy0HADH CL E G H303371212ORPHA02294799601609
HP:0001639HP:0001639Hypertrophic cardiomyopathy0IFIH1 CL E G H6413551ORPHA0117018873606951
HP:0001639HP:0001639Hypertrophic cardiomyopathy0KCNJ8 CL E G H37641517ORPHA02176269600935
HP:0001639HP:0001639Hypertrophic cardiomyopathy0KLF1 CL E G H10661613673Congenital dyserythropoietic anemia, type IV613673C3150926OMIM01296345600599
HP:0001639HP:0001639Hypertrophic cardiomyopathy0KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0001639HP:0001639Hypertrophic cardiomyopathy0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA02326613601329
HP:0001639HP:0001639Hypertrophic cardiomyopathy0LMNA CL E G H40002348ORPHA018146636150330
HP:0001639HP:0001639Hypertrophic cardiomyopathy0LMNA CL E G H400098853ORPHA018146636150330
HP:0001639HP:0001639Hypertrophic cardiomyopathy0LMNA CL E G H4000280365ORPHA018146636150330
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-TF CL E G H4558550ORPHA07481590070
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-TH CL E G H4564550ORPHA07487590040
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-TQ CL E G H4572550ORPHA07495590030
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MT-TW CL E G H4578550ORPHA07501590095
HP:0001639HP:0001639Hypertrophic cardiomyopathy0MYPN CL E G H84665615248Dilated cardiomyopathy 1KK615248C3714995OMIM0148523246608517
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NAGA CL E G H466879279ORPHA02307631104170
HP:0001639HP:0001639Hypertrophic cardiomyopathy0NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM02817989164790
HP:0001639HP:0001639Hypertrophic cardiomyopathy0PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001639HP:0001639Hypertrophic cardiomyopathy0PPA2 CL E G H27068617222Sudden cardiac failure, infantile617222C4310664OMIM033728883609988
HP:0001639HP:0001639Hypertrophic cardiomyopathy0PPARG CL E G H546879083ORPHA01669236601487
HP:0001639HP:0001639Hypertrophic cardiomyopathy0PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM08549644176876
HP:0001639HP:0001639Hypertrophic cardiomyopathy0RAD51 CL E G H588884ORPHA03589817179617
HP:0001639HP:0001639Hypertrophic cardiomyopathy0RAD51C CL E G H588984ORPHA018279820602774
HP:0001639HP:0001639Hypertrophic cardiomyopathy0RAF1 CL E G H5894611553Noonan syndrome 5611553C1969057OMIM09909829164760
HP:0001639HP:0001639Hypertrophic cardiomyopathy0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA02009970600404
HP:0001639HP:0001639Hypertrophic cardiomyopathy0RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001639HP:0001639Hypertrophic cardiomyopathy0RNASEH2A CL E G H1053551ORPHA040418518606034
HP:0001639HP:0001639Hypertrophic cardiomyopathy0RNASEH2B CL E G H7962151ORPHA042625671610326
HP:0001639HP:0001639Hypertrophic cardiomyopathy0RNASEH2C CL E G H8415351ORPHA030724116610330
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SAMHD1 CL E G H2593951ORPHA074615925606754
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM033310990103220
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SLC30A10 CL E G H55532309854ORPHA027525355611146
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM093911111300040
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001639HP:0001639Hypertrophic cardiomyopathy0SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA019411586605842
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA028611766190180
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TPI1 CL E G H7167868ORPHA018112009190450
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TREX1 CL E G H1127751ORPHA041812269606609
HP:0001639HP:0001639Hypertrophic cardiomyopathy0TTPA CL E G H727496ORPHA038912404600415
HP:0001639HP:0001639Hypertrophic cardiomyopathy0UBE2T CL E G H2908984ORPHA04525009610538
HP:0001639HP:0001639Hypertrophic cardiomyopathy0VPS13A CL E G H232302388ORPHA023621908605978
HP:0001639HP:0001639Hypertrophic cardiomyopathy0XRCC2 CL E G H751684ORPHA069712829600375
HP:0001639HP:0001639Hypertrophic cardiomyopathy0YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM027424249610957
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ABCC9 CL E G H100601517ORPHA0150760601439
HP:0001639HP:0001670Asymmetric septal hypertrophy1ABCC9 CL E G H100601517ORPHA0150760601439
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ABCC9 CL E G H100601517ORPHA0150760601439
HP:0001639HP:0001670Asymmetric septal hypertrophy1ADAR CL E G H10351ORPHA01122225146920
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ADAR CL E G H10351ORPHA01122225146920
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ADAR CL E G H10351ORPHA01122225146920
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1AIP CL E G H9049963ORPHA0867358605555
HP:0001639HP:0001670Asymmetric septal hypertrophy1AIP CL E G H9049963ORPHA0867358605555
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1AIP CL E G H9049963ORPHA0867358605555
HP:0001639HP:0001670Asymmetric septal hypertrophy1ANKS6 CL E G H203286615382Nephronophthisis 16615382C3809320OMIM036126724615370
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ANKS6 CL E G H203286615382Nephronophthisis 16615382C3809320OMIM036126724615370
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ANKS6 CL E G H203286615382Nephronophthisis 16615382C3809320OMIM036126724615370
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ATAD3A CL E G H55210496790ORPHA039925567612316
HP:0001639HP:0001670Asymmetric septal hypertrophy1ATAD3A CL E G H55210496790ORPHA039925567612316
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ATAD3A CL E G H55210496790ORPHA039925567612316
HP:0001639HP:0001670Asymmetric septal hypertrophy1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM039925567612316
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM039925567612316
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ATAD3A CL E G H55210617183Harel-Yoon syndrome617183C4310677OMIM039925567612316
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA0249961605681
HP:0001639HP:0001670Asymmetric septal hypertrophy1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA0249961605681
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA0249961605681
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0001639HP:0001670Asymmetric septal hypertrophy1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1BRAF CL E G H6731340Chromosome 4, monosomy 4qC0265404ORPHA011821097164757
HP:0001639HP:0001670Asymmetric septal hypertrophy1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0001639HP:0001670Asymmetric septal hypertrophy1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0001639HP:0001670Asymmetric septal hypertrophy1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA02292586603432
HP:0001639HP:0001670Asymmetric septal hypertrophy1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA02292586603432
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA02292586603432
HP:0001639HP:0001670Asymmetric septal hypertrophy1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM029119693612898
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM029119693612898
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1COQ4 CL E G H51117616276Coenzyme Q10 deficiency, primary, 7616276C4225392OMIM029119693612898
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1CPT1A CL E G H1374156ORPHA08372328600528
HP:0001639HP:0001670Asymmetric septal hypertrophy1CPT1A CL E G H1374156ORPHA08372328600528
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1CPT1A CL E G H1374156ORPHA08372328600528
HP:0001639HP:0001670Asymmetric septal hypertrophy1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM09762770125660
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM09762770125660
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM09762770125660
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA09663327130160
HP:0001639HP:0001670Asymmetric septal hypertrophy1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA09663327130160
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA09663327130160
HP:0001639HP:0001670Asymmetric septal hypertrophy1ERCC4 CL E G H207284ORPHA07263436133520
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1ERCC4 CL E G H207284ORPHA07263436133520
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1ERCC4 CL E G H207284ORPHA07263436133520
HP:0001639HP:0001670Asymmetric septal hypertrophy1FANCA CL E G H217584ORPHA043963582607139
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FANCA CL E G H217584ORPHA043963582607139
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FANCA CL E G H217584ORPHA043963582607139
HP:0001639HP:0001670Asymmetric septal hypertrophy1FANCB CL E G H218784ORPHA06333583300515
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FANCB CL E G H218784ORPHA06333583300515
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FANCB CL E G H218784ORPHA06333583300515
HP:0001639HP:0001670Asymmetric septal hypertrophy1FANCC CL E G H217684ORPHA017433584613899
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FANCC CL E G H217684ORPHA017433584613899
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FANCC CL E G H217684ORPHA017433584613899
HP:0001639HP:0001670Asymmetric septal hypertrophy1FANCD2 CL E G H217784ORPHA012623585613984
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FANCD2 CL E G H217784ORPHA012623585613984
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FANCD2 CL E G H217784ORPHA012623585613984
HP:0001639HP:0001670Asymmetric septal hypertrophy1FANCE CL E G H217884ORPHA05273586613976
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FANCE CL E G H217884ORPHA05273586613976
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FANCE CL E G H217884ORPHA05273586613976
HP:0001639HP:0001670Asymmetric septal hypertrophy1FANCF CL E G H218884ORPHA04343587613897
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FANCF CL E G H218884ORPHA04343587613897
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FANCF CL E G H218884ORPHA04343587613897
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FANCG CL E G H218984ORPHA07903588602956
HP:0001639HP:0001670Asymmetric septal hypertrophy1FANCG CL E G H218984ORPHA07903588602956
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FANCG CL E G H218984ORPHA07903588602956
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FANCI CL E G H5521584ORPHA0150625568611360
HP:0001639HP:0001670Asymmetric septal hypertrophy1FANCI CL E G H5521584ORPHA0150625568611360
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FANCI CL E G H5521584ORPHA0150625568611360
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FANCL CL E G H5512084ORPHA054220748608111
HP:0001639HP:0001670Asymmetric septal hypertrophy1FANCL CL E G H5512084ORPHA054220748608111
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FANCL CL E G H5512084ORPHA054220748608111
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FANCM CL E G H5769784ORPHA0204523168609644
HP:0001639HP:0001670Asymmetric septal hypertrophy1FANCM CL E G H5769784ORPHA0204523168609644
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FANCM CL E G H5769784ORPHA0204523168609644
HP:0001639HP:0001670Asymmetric septal hypertrophy1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1FBXL4 CL E G H26235615471Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)615471C3809592OMIM056613601605654
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1GATA4 CL E G H2626251071ORPHA07774173600576
HP:0001639HP:0001670Asymmetric septal hypertrophy1GATA4 CL E G H2626251071ORPHA07774173600576
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1GATA4 CL E G H2626251071ORPHA07774173600576
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0001639HP:0001670Asymmetric septal hypertrophy1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1GLA CL E G H2717324Slti Salem syndromeORPHA010994296300644
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1GPR101 CL E G H83550963ORPHA021114963300393
HP:0001639HP:0001670Asymmetric septal hypertrophy1GPR101 CL E G H83550963ORPHA021114963300393
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1GPR101 CL E G H83550963ORPHA021114963300393
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA01784659601679
HP:0001639HP:0001670Asymmetric septal hypertrophy1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA01784659601679
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA01784659601679
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA02664661604318
HP:0001639HP:0001670Asymmetric septal hypertrophy1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA02664661604318
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA02664661604318
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1HADH CL E G H303371212ORPHA02294799601609
HP:0001639HP:0001670Asymmetric septal hypertrophy1HADH CL E G H303371212ORPHA02294799601609
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1HADH CL E G H303371212ORPHA02294799601609
HP:0001639HP:0001670Asymmetric septal hypertrophy1IFIH1 CL E G H6413551ORPHA0117018873606951
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1IFIH1 CL E G H6413551ORPHA0117018873606951
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1IFIH1 CL E G H6413551ORPHA0117018873606951
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1KCNJ8 CL E G H37641517ORPHA02176269600935
HP:0001639HP:0001670Asymmetric septal hypertrophy1KCNJ8 CL E G H37641517ORPHA02176269600935
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1KCNJ8 CL E G H37641517ORPHA02176269600935
HP:0001639HP:0001670Asymmetric septal hypertrophy1KLF1 CL E G H10661613673Congenital dyserythropoietic anemia, type IV613673C3150926OMIM01296345600599
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1KLF1 CL E G H10661613673Congenital dyserythropoietic anemia, type IV613673C3150926OMIM01296345600599
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1KLF1 CL E G H10661613673Congenital dyserythropoietic anemia, type IV613673C3150926OMIM01296345600599
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0001639HP:0001670Asymmetric septal hypertrophy1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1KRAS CL E G H38451340Chromosome 4, monosomy 4qC0265404ORPHA04806407190070
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA02326613601329
HP:0001639HP:0001670Asymmetric septal hypertrophy1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA02326613601329
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA02326613601329
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1LMNA CL E G H400098853ORPHA018146636150330
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1LMNA CL E G H40002348ORPHA018146636150330
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1LMNA CL E G H4000280365ORPHA018146636150330
HP:0001639HP:0001670Asymmetric septal hypertrophy1LMNA CL E G H400098853ORPHA018146636150330
HP:0001639HP:0001670Asymmetric septal hypertrophy1LMNA CL E G H40002348ORPHA018146636150330
HP:0001639HP:0001670Asymmetric septal hypertrophy1LMNA CL E G H4000280365ORPHA018146636150330
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1LMNA CL E G H400098853ORPHA018146636150330
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1LMNA CL E G H40002348ORPHA018146636150330
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1LMNA CL E G H4000280365ORPHA018146636150330
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001639HP:0001670Asymmetric septal hypertrophy1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0001639HP:0001670Asymmetric septal hypertrophy1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MAP2K1 CL E G H56041340Chromosome 4, monosomy 4qC0265404ORPHA04936840176872
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0001639HP:0001670Asymmetric septal hypertrophy1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MAP2K2 CL E G H56051340Chromosome 4, monosomy 4qC0265404ORPHA07206842601263
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-CO1 CL E G H4512550ORPHA07419516030
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-CO2 CL E G H4513550ORPHA07421516040
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-CO3 CL E G H4514550ORPHA07422516050
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-ND1 CL E G H4535550ORPHA07455516000
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-ND4 CL E G H4538550ORPHA07459516003
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-ND5 CL E G H4540550ORPHA07461516005
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-ND6 CL E G H4541550ORPHA07462516006
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-TF CL E G H4558550ORPHA07481590070
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-TF CL E G H4558550ORPHA07481590070
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-TF CL E G H4558550ORPHA07481590070
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-TH CL E G H4564550ORPHA07487590040
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-TH CL E G H4564550ORPHA07487590040
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-TH CL E G H4564550ORPHA07487590040
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-TL1 CL E G H4567550ORPHA07490590050
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-TQ CL E G H4572550ORPHA07495590030
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-TS1 CL E G H4574550ORPHA07497590080
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-TS2 CL E G H4575550ORPHA07498590085
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MT-TW CL E G H4578550ORPHA07501590095
HP:0001639HP:0001670Asymmetric septal hypertrophy1MT-TW CL E G H4578550ORPHA07501590095
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MT-TW CL E G H4578550ORPHA07501590095
HP:0001639HP:0001670Asymmetric septal hypertrophy1MYPN CL E G H84665615248Dilated cardiomyopathy 1KK615248C3714995OMIM0148523246608517
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1MYPN CL E G H84665615248Dilated cardiomyopathy 1KK615248C3714995OMIM0148523246608517
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1MYPN CL E G H84665615248Dilated cardiomyopathy 1KK615248C3714995OMIM0148523246608517
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NAGA CL E G H466879279ORPHA02307631104170
HP:0001639HP:0001670Asymmetric septal hypertrophy1NAGA CL E G H466879279ORPHA02307631104170
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NAGA CL E G H466879279ORPHA02307631104170
HP:0001639HP:0001670Asymmetric septal hypertrophy1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM02817989164790
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM02817989164790
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1NRAS CL E G H4893613224Noonan syndrome 6613224C2750732OMIM02817989164790
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001639HP:0001670Asymmetric septal hypertrophy1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0001639HP:0001670Asymmetric septal hypertrophy1PPA2 CL E G H27068617222Sudden cardiac failure, infantile617222C4310664OMIM033728883609988
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1PPA2 CL E G H27068617222Sudden cardiac failure, infantile617222C4310664OMIM033728883609988
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1PPA2 CL E G H27068617222Sudden cardiac failure, infantile617222C4310664OMIM033728883609988
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1PPARG CL E G H546879083ORPHA01669236601487
HP:0001639HP:0001670Asymmetric septal hypertrophy1PPARG CL E G H546879083ORPHA01669236601487
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1PPARG CL E G H546879083ORPHA01669236601487
HP:0001639HP:0001670Asymmetric septal hypertrophy1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM08549644176876
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM08549644176876
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1PTPN11 CL E G H5781151100LEOPARD syndrome 1151100CN074218OMIM08549644176876
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1RAD51 CL E G H588884ORPHA03589817179617
HP:0001639HP:0001670Asymmetric septal hypertrophy1RAD51 CL E G H588884ORPHA03589817179617
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1RAD51 CL E G H588884ORPHA03589817179617
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1RAD51C CL E G H588984ORPHA018279820602774
HP:0001639HP:0001670Asymmetric septal hypertrophy1RAD51C CL E G H588984ORPHA018279820602774
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1RAD51C CL E G H588984ORPHA018279820602774
HP:0001639HP:0001670Asymmetric septal hypertrophy1RAF1 CL E G H5894611553Noonan syndrome 5611553C1969057OMIM09909829164760
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1RAF1 CL E G H5894611553Noonan syndrome 5611553C1969057OMIM09909829164760
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1RAF1 CL E G H5894611553Noonan syndrome 5611553C1969057OMIM09909829164760
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA02009970600404
HP:0001639HP:0001670Asymmetric septal hypertrophy1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA02009970600404
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA02009970600404
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001639HP:0001670Asymmetric septal hypertrophy1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0001639HP:0001670Asymmetric septal hypertrophy1RNASEH2A CL E G H1053551ORPHA040418518606034
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1RNASEH2A CL E G H1053551ORPHA040418518606034
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1RNASEH2A CL E G H1053551ORPHA040418518606034
HP:0001639HP:0001670Asymmetric septal hypertrophy1RNASEH2B CL E G H7962151ORPHA042625671610326
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1RNASEH2B CL E G H7962151ORPHA042625671610326
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1RNASEH2B CL E G H7962151ORPHA042625671610326
HP:0001639HP:0001670Asymmetric septal hypertrophy1RNASEH2C CL E G H8415351ORPHA030724116610330
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1RNASEH2C CL E G H8415351ORPHA030724116610330
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1RNASEH2C CL E G H8415351ORPHA030724116610330
HP:0001639HP:0001670Asymmetric septal hypertrophy1SAMHD1 CL E G H2593951ORPHA074615925606754
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SAMHD1 CL E G H2593951ORPHA074615925606754
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SAMHD1 CL E G H2593951ORPHA074615925606754
HP:0001639HP:0001670Asymmetric septal hypertrophy1SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM033310990103220
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM033310990103220
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SLC25A4 CL E G H291617184Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant617184C4310676OMIM033310990103220
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001639HP:0001670Asymmetric septal hypertrophy1SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SLC2A10 CL E G H810313342ORPHA057113444606145
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SLC30A10 CL E G H55532309854ORPHA027525355611146
HP:0001639HP:0001670Asymmetric septal hypertrophy1SLC30A10 CL E G H55532309854ORPHA027525355611146
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SLC30A10 CL E G H55532309854ORPHA027525355611146
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001639HP:0001670Asymmetric septal hypertrophy1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0001639HP:0001670Asymmetric septal hypertrophy1SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM093911111300040
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM093911111300040
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SMC1A CL E G H8243300590Congenital muscular hypertrophy-cerebral syndrome300590C1802395OMIM093911111300040
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001639HP:0001670Asymmetric septal hypertrophy1SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SYNE1 CL E G H2334598853ORPHA0578917089608441
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001639HP:0001670Asymmetric septal hypertrophy1SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1SYNE2 CL E G H2322498853ORPHA0331417084608442
HP:0001639HP:0001670Asymmetric septal hypertrophy1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TANGO2 CL E G H128989616878TANGO2-Related Metabolic Encephalopathy and Arrhythmias616878C4225171OMIM071525439616830
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA019411586605842
HP:0001639HP:0001670Asymmetric septal hypertrophy1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA019411586605842
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA019411586605842
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA028611766190180
HP:0001639HP:0001670Asymmetric septal hypertrophy1TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA028611766190180
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA028611766190180
HP:0001639HP:0001670Asymmetric septal hypertrophy1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TMEM126A CL E G H84233612989Optic atrophy 7612989C2751812OMIM018525382612988
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001639HP:0001670Asymmetric septal hypertrophy1TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TMEM43 CL E G H7918898853ORPHA082528472612048
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TPI1 CL E G H7167868ORPHA018112009190450
HP:0001639HP:0001670Asymmetric septal hypertrophy1TPI1 CL E G H7167868ORPHA018112009190450
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TPI1 CL E G H7167868ORPHA018112009190450
HP:0001639HP:0001670Asymmetric septal hypertrophy1TREX1 CL E G H1127751ORPHA041812269606609
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TREX1 CL E G H1127751ORPHA041812269606609
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TREX1 CL E G H1127751ORPHA041812269606609
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1TTPA CL E G H727496ORPHA038912404600415
HP:0001639HP:0001670Asymmetric septal hypertrophy1TTPA CL E G H727496ORPHA038912404600415
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1TTPA CL E G H727496ORPHA038912404600415
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1UBE2T CL E G H2908984ORPHA04525009610538
HP:0001639HP:0001670Asymmetric septal hypertrophy1UBE2T CL E G H2908984ORPHA04525009610538
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1UBE2T CL E G H2908984ORPHA04525009610538
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1VPS13A CL E G H232302388ORPHA023621908605978
HP:0001639HP:0001670Asymmetric septal hypertrophy1VPS13A CL E G H232302388ORPHA023621908605978
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1VPS13A CL E G H232302388ORPHA023621908605978
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1XRCC2 CL E G H751684ORPHA069712829600375
HP:0001639HP:0001670Asymmetric septal hypertrophy1XRCC2 CL E G H751684ORPHA069712829600375
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1XRCC2 CL E G H751684ORPHA069712829600375
HP:0001639HP:0001670Asymmetric septal hypertrophy1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM027424249610957
HP:0001639HP:0031992Apical hypertrophic cardiomyopathy1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM027424249610957
HP:0001639HP:0005157Concentric hypertrophic cardiomyopathy1YARS2 CL E G H51067613561Myopathy, lactic acidosis, and sideroblastic anemia 2613561C3150802OMIM027424249610957


Genes (225) :AARS2 ABCC9 ACAD9 ACADL ACADVL ACTC1 ADAR AGK AGPAT2 AIP ALG1 ANKS6 APOPT1 ATAD3A ATP5F1E ATP6V1A ATPAF2 BAG3 BAZ1B BCS1L BOLA3 BRAF BRCA1 BRCA2 BRIP1 BSCL2 CAV1 CAV3 CAVIN1 CLIP2 CLN3 COA5 COA6 COA7 COA8 COG7 COQ2 COQ4 COX1 COX10 COX14 COX15 COX2 COX20 COX3 COX6B1 COX7B COX8A CPT1A CRYAB DES DLD ECHS1 ELAC2 ELN EMD ERCC4 FAH FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FASTKD2 FBXL4 FHL1 FOS FOXRED1 FTO FXN GATA4 GLA GLB1 GNPTAB GNS GPR101 GTF2I GTF2IRD1 HADH HADHA HCCS HGSNAT HLA-B HRAS HSD17B10 IFIH1 IL12B KCNJ8 KLF1 KRAS LAMP2 LIAS LIMK1 LIPT1 LMNA MAD2L2 MAP2K1 MAP2K2 MIPEP MLX MLYCD MRPL3 MRPL44 MRPS22 MT-TE MT-TK MT-TL1 MT-TN MT-TS1 MTFMT MTO1 MYBPC3 MYH6 MYH7 MYL2 MYL3 MYLK2 MYOZ2 MYPN NAGA NAGLU ND1 ND4 ND5 ND6 NDUFA10 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF5 NDUFAF6 NDUFB11 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEK8 NF1 NRAS OPA1 PALB2 PDHA1 PET100 PPA2 PPARG PPP1CB PRKAG2 PTPN11 RAD51 RAD51C RAF1 RFC2 RFWD3 RIT1 RNASEH2A RNASEH2B RNASEH2C SAMHD1 SCO1 SCO2 SDHA SDHAF1 SDHB SDHD SGSH SHOC2 SLC19A3 SLC22A5 SLC25A3 SLC25A4 SLC2A10 SLC30A10 SLX4 SMC1A SOS1 SURF1 SYNE1 SYNE2 TACO1 TANGO2 TAPT1 TAZ TBL2 TGFB1 TMEM126A TMEM126B TMEM43 TMEM70 TNNC1 TNNT2 TPI1 TPM1 TREX1 TRNE TRNF TRNH TRNK TRNL1 TRNN TRNQ TRNS1 TRNS2 TRNW TSFM TTN TTPA UBE2T VCL VPS13A VPS33A XRCC2 YARS2

Diseases (139) :614096 1517 99901 611126 99900 201475 612098 51 1369 212350 528 963 79327 615382 496790 617183 614053 617403 604273 612954 904 124000 614299 500 115150 1340 163950 84 269700 616500 616501 220110 436271 79333 607426 616276 550 255241 2556 156 608810 601419 246900 615440 98863 276700 615471 300696 612938 229300 251071 324 230500 252500 71212 231530 5 3287 3071 218040 300438 613673 609942 34587 300257 614462 2348 98853 280365 615279 638 617228 248360 614582 615395 611719 614702 115197 613251 255160 608751 615248 79279 79281 618234 252010 615415 613224 616896 617222 79083 2701 600858 151100 611554 611553 615355 604377 3208 252011 607721 212140 91130 610773 617184 615418 3342 309854 300590 610733 616878 616897 302060 1328 612989 618250 1194 614052 613243 115195 868 115196 225 1349 613765 96 613255 2388 617303 613561 192600 204200 252940 252930 608758 613838 252920 252900 610505
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.