Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of male external genitalia (HP:0000032)help
Parent Node:
expand
Abnormal penis morphology (HP:0000036)help
..Starting node
..expand
Erectile dysfunction (HP:0100639)help
Term ID: 100639
Name: Erectile dysfunction
Synonym: Abnormal erection; Erectile abnormalities
Definition: A multidimensional but common male sexual dysfunction that involves an alteration in any of the components of the erectile response, including organic, relational and psychological.
Comments:
Reference: HP:0100639
Genes and Diseases:
 
       Child Nodes:
........expandImpotence (HP:0000802) help
........expandPriapism (HP:0200023) help

 Sister Nodes: 
..expandAbnormal preputium morphology (HP:0100587) help
..expandAbnormality of corpus cavernosum (HP:0100623) help
..expandAbsent penis (HP:0030261) help
..expandBifid penis (HP:0100599) help
..expandChordee (HP:0000041) help
..expandDisplacement of the urethral meatus (HP:0100627) help
..expandHypoplasia of penis (HP:0008736) help
..expandLong penis (HP:0000040) help
..expandNarrow penis (HP:0030262) help
..expandNeoplasm of the penis (HP:0100850) help
..expandPartial development of the penile shaft (HP:0008708) help
..expandPenile freckling (HP:0031447) help
..expandPenoscrotal transposition (HP:0100600) help
..expandTorsion of the penis (HP:0030263) help
..expandWebbed penis (HP:0030264) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0100639HP:0100639Erectile dysfunction0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy135
HP:0100639HP:0100639Erectile dysfunction0ABCD1 CL E G H21561ORPHA:139399AdrenomyeloneuropathyHP:0040282 - Frequent135
HP:0100639HP:0100639Erectile dysfunction0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0100639HP:0100639Erectile dysfunction0AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040281 - Very frequent95
HP:0100639HP:0100639Erectile dysfunction0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0100639HP:0100639Erectile dysfunction0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040281 - Very frequent65
HP:0100639HP:0100639Erectile dysfunction0AR CL E G H367644ORPHA:481Kennedy diseaseHP:0040281 - Very frequent125
HP:0100639HP:0100639Erectile dysfunction0ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 81
HP:0100639HP:0100639Erectile dysfunction0ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 81
HP:0100639HP:0100639Erectile dysfunction0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0100639HP:0100639Erectile dysfunction0BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 113
HP:0100639HP:0100639Erectile dysfunction0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional
HP:0100639HP:0100639Erectile dysfunction0CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 4232
HP:0100639HP:0100639Erectile dysfunction0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0100639HP:0100639Erectile dysfunction0CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040281 - Very frequent636
HP:0100639HP:0100639Erectile dysfunction0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0100639HP:0100639Erectile dysfunction0CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 12
HP:0100639HP:0100639Erectile dysfunction0CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1102
HP:0100639HP:0100639Erectile dysfunction0CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 11
HP:0100639HP:0100639Erectile dysfunction0CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1
HP:0100639HP:0100639Erectile dysfunction0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040281 - Very frequent515
HP:0100639HP:0100639Erectile dysfunction0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadism515
HP:0100639HP:0100639Erectile dysfunction0COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to54
HP:0100639HP:0100639Erectile dysfunction0COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar type54
HP:0100639HP:0100639Erectile dysfunction0COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian type54
HP:0100639HP:0100639Erectile dysfunction0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040281 - Very frequent36
HP:0100639HP:0100639Erectile dysfunction0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0100639HP:0100639Erectile dysfunction0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadism4
HP:0100639HP:0100639Erectile dysfunction0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040281 - Very frequent2
HP:0100639HP:0100639Erectile dysfunction0FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040281 - Very frequent3
HP:0100639HP:0100639Erectile dysfunction0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadism3
HP:0100639HP:0100639Erectile dysfunction0FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040281 - Very frequent17
HP:0100639HP:0100639Erectile dysfunction0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadism17
HP:0100639HP:0100639Erectile dysfunction0FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040281 - Very frequent172
HP:0100639HP:0100639Erectile dysfunction0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadism172
HP:0100639HP:0100639Erectile dysfunction0FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0100639HP:0100639Erectile dysfunction0FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0100639HP:0100639Erectile dysfunction0FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndrome30
HP:0100639HP:0100639Erectile dysfunction0GALC CL E G H25814115ORPHA:206448Adult Krabbe diseaseHP:0040284 - Very rare160
HP:0100639HP:0100639Erectile dysfunction0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadism15
HP:0100639HP:0100639Erectile dysfunction0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadism92
HP:0100639HP:0100639Erectile dysfunction0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0100639HP:0100639Erectile dysfunction0GUCY1A1 CL E G H29824685OMIM:615750Moyamoya disease 6 with achalasia
HP:0100639HP:0100639Erectile dysfunction0HAMP CL E G H5781715598ORPHA:79230Hemochromatosis type 215
HP:0100639HP:0100639Erectile dysfunction0HBB CL E G H30434827OMIM:603903Sickle cell anemia580
HP:0100639HP:0100639Erectile dysfunction0HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040281 - Very frequent21
HP:0100639HP:0100639Erectile dysfunction0HEXB CL E G H30744879OMIM:268800Sandhoff disease80
HP:0100639HP:0100639Erectile dysfunction0HFE CL E G H30774886OMIM:235200Hemochromatosis, type 138
HP:0100639HP:0100639Erectile dysfunction0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional38
HP:0100639HP:0100639Erectile dysfunction0HJV CL E G H1487384887ORPHA:79230Hemochromatosis type 2
HP:0100639HP:0100639Erectile dysfunction0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040281 - Very frequent8
HP:0100639HP:0100639Erectile dysfunction0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadism8
HP:0100639HP:0100639Erectile dysfunction0IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0100639HP:0100639Erectile dysfunction0IRF4 CL E G H36626119ORPHA:3452Whipple diseaseHP:0040283 - Occasional1
HP:0100639HP:0100639Erectile dysfunction0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadism3
HP:0100639HP:0100639Erectile dysfunction0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadism14
HP:0100639HP:0100639Erectile dysfunction0LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0100639HP:0100639Erectile dysfunction0LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0100639HP:0100639Erectile dysfunction0MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1462
HP:0100639HP:0100639Erectile dysfunction0MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040281 - Very frequent462
HP:0100639HP:0100639Erectile dysfunction0NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0100639HP:0100639Erectile dysfunction0NDP CL E G H46937678ORPHA:649Norrie diseaseHP:0040282 - Frequent39
HP:0100639HP:0100639Erectile dysfunction0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0100639HP:0100639Erectile dysfunction0NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadism6
HP:0100639HP:0100639Erectile dysfunction0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0100639HP:0100639Erectile dysfunction0PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuria46
HP:0100639HP:0100639Erectile dysfunction0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0100639HP:0100639Erectile dysfunction0PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0100639HP:0100639Erectile dysfunction0PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadism9
HP:0100639HP:0100639Erectile dysfunction0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0100639HP:0100639Erectile dysfunction0PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadism34
HP:0100639HP:0100639Erectile dysfunction0SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-Saguenay309
HP:0100639HP:0100639Erectile dysfunction0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040281 - Very frequent14
HP:0100639HP:0100639Erectile dysfunction0SLC40A1 CL E G H3006110909OMIM:606069Hemochromatosis, type 456
HP:0100639HP:0100639Erectile dysfunction0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0100639HP:0100639Erectile dysfunction0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0100639HP:0100639Erectile dysfunction0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0100639HP:0100639Erectile dysfunction0SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040281 - Very frequent61
HP:0100639HP:0100639Erectile dysfunction0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040281 - Very frequent5
HP:0100639HP:0100639Erectile dysfunction0SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadism5
HP:0100639HP:0100639Erectile dysfunction0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0100639HP:0100639Erectile dysfunction0TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadism6
HP:0100639HP:0100639Erectile dysfunction0TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0100639HP:0100639Erectile dysfunction0TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadism34
HP:0100639HP:0100639Erectile dysfunction0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0100639HP:0100639Erectile dysfunction0TFR2 CL E G H703611762OMIM:604250Hemochromatosis, type 367
HP:0100639HP:0100639Erectile dysfunction0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0100639HP:0100639Erectile dysfunction0TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related107
HP:0100639HP:0100639Erectile dysfunction0TTR CL E G H727612405ORPHA:85447ATTRV30M amyloidosis107
HP:0100639HP:0100639Erectile dysfunction0WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040281 - Very frequent10
HP:0100639HP:0100639Erectile dysfunction0WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadism10
HP:0100639HP:0000802Impotence1ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy135
HP:0100639HP:0000802Impotence1AIP CL E G H9049358ORPHA:963AcromegalyHP:0040283 - Occasional95
HP:0100639HP:0000802Impotence1AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040281 - Very frequent95
HP:0100639HP:0000802Impotence1AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040282 - Frequent54
HP:0100639HP:0000802Impotence1ATXN8 CL E G H72406632925ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0100639HP:0000802Impotence1ATXN8OS CL E G H631510561ORPHA:98760Spinocerebellar ataxia type 8HP:0040282 - Frequent1
HP:0100639HP:0000802Impotence1BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040282 - Frequent184
HP:0100639HP:0000802Impotence1BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 1.13
HP:0100639HP:0000802Impotence1CACNA1G CL E G H89131394ORPHA:458803Spinocerebellar ataxia type 42HP:0040283 - Occasional32
HP:0100639HP:0000802Impotence1CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040281 - Very frequent636
HP:0100639HP:0000802Impotence1CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0100639HP:0000802Impotence1CDKN1A CL E G H10261784ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent2
HP:0100639HP:0000802Impotence1CDKN1B CL E G H10271785ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent102
HP:0100639HP:0000802Impotence1CDKN2B CL E G H10301788ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent1
HP:0100639HP:0000802Impotence1CDKN2C CL E G H10311789ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent
HP:0100639HP:0000802Impotence1CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent515
HP:0100639HP:0000802Impotence1COQ2 CL E G H2723525223OMIM:146500Multiple system atrophy 1, susceptibility to.54
HP:0100639HP:0008652Autonomic erectile dysfunction1COQ2 CL E G H2723525223ORPHA:227510Multiple system atrophy, cerebellar typeHP:0040282 - Frequent54
HP:0100639HP:0008652Autonomic erectile dysfunction1COQ2 CL E G H2723525223ORPHA:98933Multiple system atrophy, parkinsonian typeHP:0040282 - Frequent54
HP:0100639HP:0000802Impotence1DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent4
HP:0100639HP:0000802Impotence1FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0100639HP:0000802Impotence1FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent17
HP:0100639HP:0000802Impotence1FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent172
HP:0100639HP:0000802Impotence1FMR1 CL E G H23323775OMIM:300623Fragile X tremor/ataxia syndrome30
HP:0100639HP:0000802Impotence1FMR1 CL E G H23323775ORPHA:93256Fragile X-associated tremor/ataxia syndromeHP:0040282 - Frequent30
HP:0100639HP:0000802Impotence1GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent15
HP:0100639HP:0000802Impotence1GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent92
HP:0100639HP:0000802Impotence1GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040283 - Occasional5
HP:0100639HP:0000802Impotence1GUCY1A1 CL E G H29824685OMIM:615750Moyamoya disease 6 with achalasia.
HP:0100639HP:0000802Impotence1HAMP CL E G H5781715598ORPHA:79230Hemochromatosis type 2HP:0040282 - Frequent15
HP:0100639HP:0200023Priapism1HBB CL E G H30434827OMIM:603903Sickle cell anemia.580
HP:0100639HP:0000802Impotence1HEXB CL E G H30744879OMIM:268800Sandhoff disease.80
HP:0100639HP:0000802Impotence1HFE CL E G H30774886OMIM:235200Hemochromatosis, type 1.38
HP:0100639HP:0000802Impotence1HJV CL E G H1487384887ORPHA:79230Hemochromatosis type 2HP:0040282 - Frequent
HP:0100639HP:0000802Impotence1HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent8
HP:0100639HP:0000802Impotence1KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0100639HP:0000802Impotence1KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent14
HP:0100639HP:0000802Impotence1LMNB1 CL E G H40016637ORPHA:99027Adult-onset autosomal dominant leukodystrophyHP:0040283 - Occasional44
HP:0100639HP:0008652Autonomic erectile dysfunction1LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0100639HP:0000802Impotence1LMNB1 CL E G H40016637OMIM:169500Leukodystrophy, adult-onset, autosomal dominant44
HP:0100639HP:0000802Impotence1MEN1 CL E G H42217010ORPHA:652Multiple endocrine neoplasia type 1HP:0040282 - Frequent462
HP:0100639HP:0000802Impotence1MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040281 - Very frequent462
HP:0100639HP:0000802Impotence1NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040282 - Frequent220
HP:0100639HP:0000802Impotence1NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0100639HP:0000802Impotence1PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040282 - Frequent9
HP:0100639HP:0000802Impotence1PIGA CL E G H52778957ORPHA:447Paroxysmal nocturnal hemoglobinuriaHP:0040283 - Occasional46
HP:0100639HP:0000802Impotence1PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040282 - Frequent162
HP:0100639HP:0000802Impotence1PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent9
HP:0100639HP:0000802Impotence1PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0100639HP:0000802Impotence1SACS CL E G H2627810519ORPHA:98Autosomal recessive spastic ataxia of Charlevoix-SaguenayHP:0040284 - Very rare309
HP:0100639HP:0000802Impotence1SLC40A1 CL E G H3006110909OMIM:606069Hemochromatosis, type 4.56
HP:0100639HP:0000802Impotence1SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040282 - Frequent87
HP:0100639HP:0000802Impotence1SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040282 - Frequent47
HP:0100639HP:0000802Impotence1SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040282 - Frequent22
HP:0100639HP:0000802Impotence1SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent5
HP:0100639HP:0000802Impotence1SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040282 - Frequent124
HP:0100639HP:0000802Impotence1TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0100639HP:0000802Impotence1TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0100639HP:0000802Impotence1TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040282 - Frequent238
HP:0100639HP:0000802Impotence1TFR2 CL E G H703611762OMIM:604250Hemochromatosis, type 3.67
HP:0100639HP:0000802Impotence1TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040282 - Frequent
HP:0100639HP:0000802Impotence1TTR CL E G H727612405OMIM:105210Amyloidosis, hereditary, transthyretin-related.107
HP:0100639HP:0000802Impotence1TTR CL E G H727612405ORPHA:85447ATTRV30M amyloidosisHP:0040282 - Frequent107
HP:0100639HP:0000802Impotence1WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent10


Genes (70) :ABCD1 AIP AKT1 ANOS1 AR ATXN8 ATXN8OS BAP1 BMP2 BMP6 CACNA1G CCDC141 CDH23 CDKN1A CDKN1B CDKN2B CDKN2C CHD7 COQ2 DCC DUSP6 FEZF1 FGF17 FGF8 FGFR1 FLRT3 FMR1 GALC GNRH1 GNRHR GPR101 GUCY1A1 HAMP HBB HESX1 HEXB HFE HJV HS6ST1 IL17RD IRF4 KISS1 KISS1R LMNB1 MEN1 NDNF NDP NF2 NSMF PDGFB PIGA PIK3CA PROK2 PROKR2 SACS SEMA3A SLC40A1 SMARCB1 SMARCE1 SMO SOX10 SPRY4 SUFU TAC3 TACR3 TERT TFR2 TRAF7 TTR WDR11

Diseases (34) :OMIM:300100 ORPHA:139399 ORPHA:963 ORPHA:2965 ORPHA:2495 ORPHA:478 ORPHA:481 ORPHA:98760 OMIM:235200 ORPHA:465508 ORPHA:458803 ORPHA:91347 ORPHA:652 ORPHA:432 OMIM:146500 ORPHA:227510 ORPHA:98933 OMIM:300623 ORPHA:93256 ORPHA:206448 OMIM:615750 ORPHA:79230 OMIM:603903 OMIM:268800 ORPHA:3452 ORPHA:99027 OMIM:169500 ORPHA:649 ORPHA:447 ORPHA:98 OMIM:606069 OMIM:604250 OMIM:105210 ORPHA:85447
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.