Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the endocrine system (HP:0000818)help
Parent Node:
expand
Abnormality of reproductive system physiology (HP:0000080)help
Parent Node:
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Puberty and gonadal disorders (HP:0008373)help
..Starting node
..expand
Hypogonadism (HP:0000135)help
Term ID: 135
Name: Hypogonadism
Synonym: Decreased activity of gonads
Definition: A decreased functionality of the gonad.
Comments:
Reference: HP:0000135
Genes and Diseases:
 
       Child Nodes:
........expandMale hypogonadism (HP:0000026) help
........expandHypogonadotrophic hypogonadism (HP:0000044) help
........expandFemale hypogonadism (HP:0000134) help
........expandHypergonadotropic hypogonadism (HP:0000815) help

 Sister Nodes: 
..expandAbnormal circulating estrogen level (HP:0025132) help
..expandAbnormal circulating progesterone level (HP:0031212) help
..expandAbnormal circulating testosterone concentration (HP:0030087) help
..expandAbsence of pubertal development (HP:0008197) help
..expandAbsence of secondary sex characteristics (HP:0008187) help
..expandAdrenogenital syndrome (HP:0000840) help
..expandAndrogen insufficiency (HP:0008226) help
..expandDelayed puberty (HP:0000823) help
..expandEarly onset of sexual maturation (HP:0100000) help
..expandIrregular menstruation (HP:0000858) help
..expandLeydig cell insensitivity to gonadotropin (HP:0002929) help
..expandPrimary gonadal insufficiency (HP:0008193) 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:0000135HP:0000135Hypogonadism0ABCA4 CL E G H2434ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent826
HP:0000135HP:0000135Hypogonadism0ABCD1 CL E G H21561OMIM:300100Adrenoleukodystrophy.135
HP:0000135HP:0000135Hypogonadism0ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophy135
HP:0000135HP:0000135Hypogonadism0AGBL5 CL E G H6050926147ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000135HP:0000135Hypogonadism0AHI1 CL E G H5480621575ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent175
HP:0000135HP:0000135Hypogonadism0AHR CL E G H196348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000135HP:0000135Hypogonadism0AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndrome5
HP:0000135HP:0000135Hypogonadism0AIP CL E G H9049358ORPHA:963Acromegaly95
HP:0000135HP:0000135Hypogonadism0AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040281 - Very frequent95
HP:0000135HP:0000135Hypogonadism0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000135HP:0000135Hypogonadism0AKT1 CL E G H207391ORPHA:2495Meningioma54
HP:0000135HP:0000135Hypogonadism0ALG1 CL E G H5605218294OMIM:608540Congenital disorder of glycosylation, type Ik.58
HP:0000135HP:0000135Hypogonadism0ALMS1 CL E G H7840428ORPHA:64Alström syndrome404
HP:0000135HP:0000135Hypogonadism0ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome404
HP:0000135HP:0000135Hypogonadism0ALX4 CL E G H60529450ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndromeHP:0040281 - Very frequent132
HP:0000135HP:0000135Hypogonadism0AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency44
HP:0000135HP:0000135Hypogonadism0AMACR CL E G H23600451ORPHA:79095Congenital bile acid synthesis defect type 444
HP:0000135HP:0000135Hypogonadism0ANAPC1 CL E G H6468219988ORPHA:221008Rothmund-Thomson syndrome type 1HP:0040283 - Occasional2
HP:0000135HP:0000135Hypogonadism0ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0000135HP:0000135Hypogonadism0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040281 - Very frequent150
HP:0000135HP:0000135Hypogonadism0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia65
HP:0000135HP:0000135Hypogonadism0ANOS1 CL E G H37306211ORPHA:478Kallmann syndrome65
HP:0000135HP:0000135Hypogonadism0ANTXR1 CL E G H8416821014ORPHA:2067GAPO syndromeHP:0040283 - Occasional8
HP:0000135HP:0000135Hypogonadism0AR CL E G H367644OMIM:312300Reifenstein syndrome.125
HP:0000135HP:0000135Hypogonadism0ARHGEF18 CL E G H2337017090ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent6
HP:0000135HP:0000135Hypogonadism0ARL2BP CL E G H2356817146ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000135HP:0000135Hypogonadism0ARL3 CL E G H403694ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000135HP:0000135Hypogonadism0ARL6 CL E G H8410013210ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent29
HP:0000135HP:0000135Hypogonadism0ARL6 CL E G H8410013210OMIM:209900Bardet-Biedl syndrome 129
HP:0000135HP:0000135Hypogonadism0ARL6 CL E G H8410013210ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent29
HP:0000135HP:0000135Hypogonadism0ARSL CL E G H415719OMIM:302950Chondrodysplasia punctata 1, X-linked recessive.
HP:0000135HP:0000135Hypogonadism0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA3267
HP:0000135HP:0000135Hypogonadism0ATRX CL E G H546886OMIM:309580Mental retardation-hypotonic facies syndrome, X-linked, 1.169
HP:0000135HP:0000135Hypogonadism0AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0000135HP:0000135Hypogonadism0BAP1 CL E G H8314950ORPHA:2495Meningioma184
HP:0000135HP:0000135Hypogonadism0BAZ1B CL E G H9031961ORPHA:904Williams syndrome
HP:0000135HP:0000135Hypogonadism0BBIP1 CL E G H9248228093ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent1
HP:0000135HP:0000135Hypogonadism0BBS1 CL E G H582966ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent114
HP:0000135HP:0000135Hypogonadism0BBS1 CL E G H582966OMIM:209900Bardet-Biedl syndrome 1114
HP:0000135HP:0000135Hypogonadism0BBS1 CL E G H582966ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent114
HP:0000135HP:0000135Hypogonadism0BBS10 CL E G H7973826291ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent118
HP:0000135HP:0000135Hypogonadism0BBS10 CL E G H7973826291OMIM:615987Bardet-Biedl syndrome 10.118
HP:0000135HP:0000135Hypogonadism0BBS12 CL E G H16637926648ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent71
HP:0000135HP:0000135Hypogonadism0BBS12 CL E G H16637926648OMIM:615989Bardet-Biedl syndrome 12.71
HP:0000135HP:0000135Hypogonadism0BBS2 CL E G H583967ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent97
HP:0000135HP:0000135Hypogonadism0BBS2 CL E G H583967OMIM:615981Bardet-Biedl syndrome 2.97
HP:0000135HP:0000135Hypogonadism0BBS2 CL E G H583967ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent97
HP:0000135HP:0000135Hypogonadism0BBS4 CL E G H585969ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent87
HP:0000135HP:0000135Hypogonadism0BBS4 CL E G H585969OMIM:615982Bardet-Biedl syndrome 4.87
HP:0000135HP:0000135Hypogonadism0BBS5 CL E G H129880970ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent25
HP:0000135HP:0000135Hypogonadism0BBS5 CL E G H129880970OMIM:615983Bardet-Biedl syndrome 5.25
HP:0000135HP:0000135Hypogonadism0BBS7 CL E G H5521218758ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent66
HP:0000135HP:0000135Hypogonadism0BBS7 CL E G H5521218758OMIM:615984BARDET-BIEDL SYNDROME 7; BBS766
HP:0000135HP:0000135Hypogonadism0BBS9 CL E G H2724130000ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent119
HP:0000135HP:0000135Hypogonadism0BCL7B CL E G H92751005ORPHA:904Williams syndrome
HP:0000135HP:0000135Hypogonadism0BCS1L CL E G H6171020ORPHA:123Björnstad syndromeHP:0040283 - Occasional72
HP:0000135HP:0000135Hypogonadism0BEST1 CL E G H743912703ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent182
HP:0000135HP:0000135Hypogonadism0BMP15 CL E G H92101068OMIM:300510Ovarian dysgenesis 216
HP:0000135HP:0000135Hypogonadism0BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 113
HP:0000135HP:0000135Hypogonadism0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000135HP:0000135Hypogonadism0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1
HP:0000135HP:0000135Hypogonadism0BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type90
HP:0000135HP:0000135Hypogonadism0BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent276
HP:0000135HP:0000135Hypogonadism0BRAF CL E G H6731097OMIM:163950Noonan syndrome 1HP:0040283 - Occasional276
HP:0000135HP:0000135Hypogonadism0BRCA1 CL E G H6721100ORPHA:84Fanconi anemiaHP:0040283 - Occasional5769
HP:0000135HP:0000135Hypogonadism0BRCA2 CL E G H6751101ORPHA:84Fanconi anemiaHP:0040283 - Occasional7642
HP:0000135HP:0000135Hypogonadism0BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome8
HP:0000135HP:0000135Hypogonadism0BRIP1 CL E G H8399020473ORPHA:84Fanconi anemiaHP:0040283 - Occasional1086
HP:0000135HP:0000135Hypogonadism0BUD23 CL E G H11404916405ORPHA:904Williams syndrome
HP:0000135HP:0000135Hypogonadism0CA4 CL E G H7621375ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent23
HP:0000135HP:0000135Hypogonadism0CAMKMT CL E G H7982326276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent1
HP:0000135HP:0000135Hypogonadism0CASZ1 CL E G H5489726002ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional3
HP:0000135HP:0000135Hypogonadism0CBL CL E G H8671541ORPHA:648Noonan syndrome317
HP:0000135HP:0000135Hypogonadism0CBX2 CL E G H847331552ORPHA:24246,XY complete gonadal dysgenesis3
HP:0000135HP:0000135Hypogonadism0CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0000135HP:0000135Hypogonadism0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndrome
HP:0000135HP:0000135Hypogonadism0CCDC28B CL E G H7914028163OMIM:209900Bardet-Biedl syndrome 14
HP:0000135HP:0000135Hypogonadism0CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040281 - Very frequent636
HP:0000135HP:0000135Hypogonadism0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0000135HP:0000135Hypogonadism0CDHR1 CL E G H9221114550ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent147
HP:0000135HP:0000135Hypogonadism0CDKN1C CL E G H10281786ORPHA:85173IMAGe syndromeHP:0040281 - Very frequent114
HP:0000135HP:0000135Hypogonadism0CEP19 CL E G H8498428209ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent1
HP:0000135HP:0000135Hypogonadism0CEP290 CL E G H8018429021ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent342
HP:0000135HP:0000135Hypogonadism0CERKL CL E G H37529821699ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent71
HP:0000135HP:0000135Hypogonadism0CFAP418 CL E G H15765727232ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent
HP:0000135HP:0000135Hypogonadism0CFAP418 CL E G H15765727232ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000135HP:0000135Hypogonadism0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome14
HP:0000135HP:0000135Hypogonadism0CHD7 CL E G H5563620626OMIM:214800Charge syndrome515
HP:0000135HP:0000135Hypogonadism0CHD7 CL E G H5563620626ORPHA:138CHARGE syndrome515
HP:0000135HP:0000135Hypogonadism0CHD7 CL E G H5563620626OMIM:612370Hypogonadotropic hypogonadism 5 with or without anosmia515
HP:0000135HP:0000135Hypogonadism0CHD7 CL E G H5563620626ORPHA:478Kallmann syndrome515
HP:0000135HP:0000135Hypogonadism0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadism515
HP:0000135HP:0000135Hypogonadism0CHRNG CL E G H11461967ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent68
HP:0000135HP:0000135Hypogonadism0CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040283 - Occasional3
HP:0000135HP:0000135Hypogonadism0CLIP2 CL E G H74612586ORPHA:904Williams syndrome
HP:0000135HP:0000135Hypogonadism0CLPP CL E G H81922084OMIM:614129Perrault syndrome 313
HP:0000135HP:0000135Hypogonadism0CLRN1 CL E G H740112605ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent60
HP:0000135HP:0000135Hypogonadism0CNBP CL E G H755513164OMIM:602668Dystrophia myotonica 2.1
HP:0000135HP:0000135Hypogonadism0CNGA1 CL E G H12592148ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent44
HP:0000135HP:0000135Hypogonadism0CNGB1 CL E G H12582151ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent164
HP:0000135HP:0000135Hypogonadism0COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 154
HP:0000135HP:0000135Hypogonadism0COX1 CL E G H45127419ORPHA:550MELAS
HP:0000135HP:0000135Hypogonadism0COX2 CL E G H45137421ORPHA:550MELAS
HP:0000135HP:0000135Hypogonadism0COX3 CL E G H45147422ORPHA:550MELAS
HP:0000135HP:0000135Hypogonadism0CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0000135HP:0000135Hypogonadism0CRB1 CL E G H234182343ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent156
HP:0000135HP:0000135Hypogonadism0CRX CL E G H14062383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent158
HP:0000135HP:0000135Hypogonadism0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy17
HP:0000135HP:0000135Hypogonadism0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndrome17
HP:0000135HP:0000135Hypogonadism0CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent88
HP:0000135HP:0000135Hypogonadism0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0000135HP:0000135Hypogonadism0CUL4B CL E G H84502555OMIM:300354Mental retardation, X-linked, syndromic, Cabezas type.38
HP:0000135HP:0000135Hypogonadism0CUL4B CL E G H84502555ORPHA:85293X-linked intellectual disability, Cabezas typeHP:0040283 - Occasional38
HP:0000135HP:0000135Hypogonadism0CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency2
HP:0000135HP:0000135Hypogonadism0CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiency53
HP:0000135HP:0000135Hypogonadism0CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency53
HP:0000135HP:0000135Hypogonadism0CYP19A1 CL E G H15882594OMIM:613546Aromatase deficiency60
HP:0000135HP:0000135Hypogonadism0CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiency60
HP:0000135HP:0000135Hypogonadism0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome87
HP:0000135HP:0000135Hypogonadism0DCAF17 CL E G H8006725784ORPHA:3464Woodhouse-Sakati syndromeHP:0040281 - Very frequent87
HP:0000135HP:0000135Hypogonadism0DCC CL E G H16302701ORPHA:238722Familial congenital mirror movements36
HP:0000135HP:0000135Hypogonadism0DCC CL E G H16302701ORPHA:478Kallmann syndrome36
HP:0000135HP:0000135Hypogonadism0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent30
HP:0000135HP:0000135Hypogonadism0DHDDS CL E G H7994720603ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0000135HP:0000135Hypogonadism0DHH CL E G H508462865ORPHA:24246,XY complete gonadal dysgenesis21
HP:0000135HP:0000135Hypogonadism0DHH CL E G H508462865OMIM:60708046,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY21
HP:0000135HP:0000135Hypogonadism0DHH CL E G H508462865ORPHA:16856346,XY gonadal dysgenesis-motor and sensory neuropathy syndrome21
HP:0000135HP:0000135Hypogonadism0DHX37 CL E G H5764717210ORPHA:24246,XY complete gonadal dysgenesis2
HP:0000135HP:0000135Hypogonadism0DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0000135HP:0000135Hypogonadism0DHX38 CL E G H978517211ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000135HP:0000135Hypogonadism0DMPK CL E G H17602933OMIM:160900Myotonic dystrophy 1.152
HP:0000135HP:0000135Hypogonadism0DMRT1 CL E G H17612934ORPHA:24246,XY complete gonadal dysgenesis2
HP:0000135HP:0000135Hypogonadism0DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesis1
HP:0000135HP:0000135Hypogonadism0DMXL2 CL E G H233122938OMIM:616113Polyendocrine-Polyneuropathy syndrome.3
HP:0000135HP:0000135Hypogonadism0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndrome3
HP:0000135HP:0000135Hypogonadism0DNAJC30 CL E G H8427716410ORPHA:904Williams syndrome
HP:0000135HP:0000135Hypogonadism0DNAL4 CL E G H101262955ORPHA:238722Familial congenital mirror movements2
HP:0000135HP:0000135Hypogonadism0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare94
HP:0000135HP:0000135Hypogonadism0DUSP6 CL E G H18483072OMIM:615269Hypogonadotropic hypogonadism 19 with or without anosmia4
HP:0000135HP:0000135Hypogonadism0DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia4
HP:0000135HP:0000135Hypogonadism0DUSP6 CL E G H18483072ORPHA:478Kallmann syndrome4
HP:0000135HP:0000135Hypogonadism0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadism4
HP:0000135HP:0000135Hypogonadism0EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0000135HP:0000135Hypogonadism0EIF4H CL E G H745812741ORPHA:904Williams syndrome
HP:0000135HP:0000135Hypogonadism0ELN CL E G H20063327ORPHA:904Williams syndrome172
HP:0000135HP:0000135Hypogonadism0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:0000135HP:0000135Hypogonadism0ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040282 - Frequent20
HP:0000135HP:0000135Hypogonadism0ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040282 - Frequent106
HP:0000135HP:0000135Hypogonadism0ERCC2 CL E G H20683434OMIM:601675Trichothiodystrophy 1, photosensitive.106
HP:0000135HP:0000135Hypogonadism0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent106
HP:0000135HP:0000135Hypogonadism0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent54
HP:0000135HP:0000135Hypogonadism0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0000135HP:0000135Hypogonadism0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0000135HP:0000135Hypogonadism0ERCC4 CL E G H20723436ORPHA:84Fanconi anemiaHP:0040283 - Occasional158
HP:0000135HP:0000135Hypogonadism0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent158
HP:0000135HP:0000135Hypogonadism0ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040282 - Frequent83
HP:0000135HP:0000135Hypogonadism0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent83
HP:0000135HP:0000135Hypogonadism0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0000135HP:0000135Hypogonadism0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:0000135HP:0000135Hypogonadism0ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040282 - Frequent199
HP:0000135HP:0000135Hypogonadism0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0000135HP:0000135Hypogonadism0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0000135HP:0000135Hypogonadism0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:0000135HP:0000135Hypogonadism0EYS CL E G H34600721555ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent209
HP:0000135HP:0000135Hypogonadism0FAM161A CL E G H8414025808ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent56
HP:0000135HP:0000135Hypogonadism0FANCA CL E G H21753582OMIM:227650Fanconi anemia340
HP:0000135HP:0000135Hypogonadism0FANCA CL E G H21753582ORPHA:84Fanconi anemiaHP:0040283 - Occasional340
HP:0000135HP:0000135Hypogonadism0FANCB CL E G H21873583ORPHA:84Fanconi anemiaHP:0040283 - Occasional58
HP:0000135HP:0000135Hypogonadism0FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0000135HP:0000135Hypogonadism0FANCC CL E G H21763584ORPHA:84Fanconi anemiaHP:0040283 - Occasional410
HP:0000135HP:0000135Hypogonadism0FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C410
HP:0000135HP:0000135Hypogonadism0FANCD2 CL E G H21773585ORPHA:84Fanconi anemiaHP:0040283 - Occasional147
HP:0000135HP:0000135Hypogonadism0FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0000135HP:0000135Hypogonadism0FANCE CL E G H21783586ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000135HP:0000135Hypogonadism0FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E73
HP:0000135HP:0000135Hypogonadism0FANCF CL E G H21883587ORPHA:84Fanconi anemiaHP:0040283 - Occasional87
HP:0000135HP:0000135Hypogonadism0FANCG CL E G H21893588ORPHA:84Fanconi anemiaHP:0040283 - Occasional73
HP:0000135HP:0000135Hypogonadism0FANCI CL E G H5521525568ORPHA:84Fanconi anemiaHP:0040283 - Occasional157
HP:0000135HP:0000135Hypogonadism0FANCL CL E G H5512020748ORPHA:84Fanconi anemiaHP:0040283 - Occasional53
HP:0000135HP:0000135Hypogonadism0FANCM CL E G H5769723168ORPHA:84Fanconi anemiaHP:0040283 - Occasional107
HP:0000135HP:0000135Hypogonadism0FEZF1 CL E G H38954922788OMIM:616030Hypogonadotropic hypogonadism 22 with or without anosmia.2
HP:0000135HP:0000135Hypogonadism0FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia2
HP:0000135HP:0000135Hypogonadism0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndrome2
HP:0000135HP:0000135Hypogonadism0FGF17 CL E G H88223673OMIM:615270Hypogonadotropic hypogonadism 20 with or without anosmia.3
HP:0000135HP:0000135Hypogonadism0FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia3
HP:0000135HP:0000135Hypogonadism0FGF17 CL E G H88223673ORPHA:478Kallmann syndrome3
HP:0000135HP:0000135Hypogonadism0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadism3
HP:0000135HP:0000135Hypogonadism0FGF8 CL E G H22533686OMIM:612702Hypogonadotropic hypogonadism 6 with or without anosmia17
HP:0000135HP:0000135Hypogonadism0FGF8 CL E G H22533686ORPHA:478Kallmann syndrome17
HP:0000135HP:0000135Hypogonadism0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadism17
HP:0000135HP:0000135Hypogonadism0FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia172
HP:0000135HP:0000135Hypogonadism0FGFR1 CL E G H22603688ORPHA:478Kallmann syndrome172
HP:0000135HP:0000135Hypogonadism0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadism172
HP:0000135HP:0000135Hypogonadism0FKBP6 CL E G H84683722ORPHA:904Williams syndrome
HP:0000135HP:0000135Hypogonadism0FLRT3 CL E G H237673762ORPHA:478Kallmann syndrome4
HP:0000135HP:0000135Hypogonadism0FMR1 CL E G H23323775ORPHA:261483Xq27.3q28 duplication syndromeHP:0040281 - Very frequent30
HP:0000135HP:0000135Hypogonadism0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic forms
HP:0000135HP:0000135Hypogonadism0FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plus92
HP:0000135HP:0000135Hypogonadism0FSCN2 CL E G H257943960ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent26
HP:0000135HP:0000135Hypogonadism0FSHB CL E G H24883964OMIM:229070Hypogonadotropic hypogonadism 24 without anosmia.23
HP:0000135HP:0000135Hypogonadism0FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiency23
HP:0000135HP:0000135Hypogonadism0GABRD CL E G H25634084ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional10
HP:0000135HP:0000135Hypogonadism0GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiency23
HP:0000135HP:0000135Hypogonadism0GALT CL E G H25924135OMIM:230400GALACTOSEMIA351
HP:0000135HP:0000135Hypogonadism0GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesis87
HP:0000135HP:0000135Hypogonadism0GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilans199
HP:0000135HP:0000135Hypogonadism0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic forms173
HP:0000135HP:0000135Hypogonadism0GLI2 CL E G H27364318OMIM:615849Culler-Jones syndrome.173
HP:0000135HP:0000135Hypogonadism0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0000135HP:0000135Hypogonadism0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1C101
HP:0000135HP:0000135Hypogonadism0GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA.101
HP:0000135HP:0000135Hypogonadism0GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC.101
HP:0000135HP:0000135Hypogonadism0GNRH1 CL E G H27964419OMIM:614841Hypogonadotropic hypogonadism 12 with or without anosmia15
HP:0000135HP:0000135Hypogonadism0GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia15
HP:0000135HP:0000135Hypogonadism0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadism15
HP:0000135HP:0000135Hypogonadism0GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia92
HP:0000135HP:0000135Hypogonadism0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadism92
HP:0000135HP:0000135Hypogonadism0GPR101 CL E G H8355014963ORPHA:963Acromegaly5
HP:0000135HP:0000135Hypogonadism0GTF2I CL E G H29694659ORPHA:904Williams syndrome1
HP:0000135HP:0000135Hypogonadism0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndrome1
HP:0000135HP:0000135Hypogonadism0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndrome1
HP:0000135HP:0000135Hypogonadism0GUCA1B CL E G H29794679ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent36
HP:0000135HP:0000135Hypogonadism0HAMP CL E G H5781715598ORPHA:79230Hemochromatosis type 2HP:0040282 - Frequent15
HP:0000135HP:0000135Hypogonadism0HAMP CL E G H5781715598OMIM:613313Hemochromatosis, type 2B15
HP:0000135HP:0000135Hypogonadism0HBB CL E G H30434827ORPHA:231222Beta-thalassemia intermediaHP:0040284 - Very rare580
HP:0000135HP:0000135Hypogonadism0HDAC8 CL E G H5586913315OMIM:300882Cornelia de Lange syndrome 5.37
HP:0000135HP:0000135Hypogonadism0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndrome37
HP:0000135HP:0000135Hypogonadism0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000135HP:0000135Hypogonadism0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic forms21
HP:0000135HP:0000135Hypogonadism0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function21
HP:0000135HP:0000135Hypogonadism0HESX1 CL E G H88204877ORPHA:478Kallmann syndrome21
HP:0000135HP:0000135Hypogonadism0HFE CL E G H30774886OMIM:235200Hemochromatosis, type 138
HP:0000135HP:0000135Hypogonadism0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 138
HP:0000135HP:0000135Hypogonadism0HGSNAT CL E G H13805026527ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent86
HP:0000135HP:0000135Hypogonadism0HJV CL E G H1487384887ORPHA:79230Hemochromatosis type 2HP:0040282 - Frequent
HP:0000135HP:0000135Hypogonadism0HJV CL E G H1487384887OMIM:602390Hemochromatosis, type 2A
HP:0000135HP:0000135Hypogonadism0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndrome8
HP:0000135HP:0000135Hypogonadism0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadism8
HP:0000135HP:0000135Hypogonadism0HSD17B3 CL E G H32935212ORPHA:75246,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency31
HP:0000135HP:0000135Hypogonadism0HSPG2 CL E G H33395273ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional345
HP:0000135HP:0000135Hypogonadism0IDH3A CL E G H34195384ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000135HP:0000135Hypogonadism0IDH3B CL E G H34205385ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0000135HP:0000135Hypogonadism0IER3IP1 CL E G H5112418550OMIM:614231Microcephaly, epilepsy, and diabetes syndromeHP:0040283 - Occasional6
HP:0000135HP:0000135Hypogonadism0IFT140 CL E G H974229077ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent148
HP:0000135HP:0000135Hypogonadism0IFT172 CL E G H2616030391ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent48
HP:0000135HP:0000135Hypogonadism0IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0000135HP:0000135Hypogonadism0IFT172 CL E G H2616030391ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000135HP:0000135Hypogonadism0IFT27 CL E G H1102018626ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent1
HP:0000135HP:0000135Hypogonadism0IFT27 CL E G H1102018626OMIM:615996Bardet-Biedl syndrome 19.1
HP:0000135HP:0000135Hypogonadism0IFT74 CL E G H8017321424ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent3
HP:0000135HP:0000135Hypogonadism0IFT74 CL E G H8017321424OMIM:617119BARDET-BIEDL SYNDROME 20; BBS203
HP:0000135HP:0000135Hypogonadism0IFT88 CL E G H810020606ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000135HP:0000135Hypogonadism0IGF1 CL E G H34795464ORPHA:73272Growth delay due to insulin-like growth factor type 1 deficiencyHP:0040282 - Frequent91
HP:0000135HP:0000135Hypogonadism0IL17RD CL E G H5475617616OMIM:615267Hypogonadotropic hypogonadism 18 with or without anosmia.9
HP:0000135HP:0000135Hypogonadism0IL17RD CL E G H5475617616ORPHA:478Kallmann syndrome9
HP:0000135HP:0000135Hypogonadism0IMPDH1 CL E G H36146052ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent52
HP:0000135HP:0000135Hypogonadism0IMPG1 CL E G H36176055ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0000135HP:0000135Hypogonadism0IMPG2 CL E G H5093918362ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent120
HP:0000135HP:0000135Hypogonadism0INPP5K CL E G H5176333882ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent7
HP:0000135HP:0000135Hypogonadism0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000135HP:0000135Hypogonadism0ITGB6 CL E G H36946161ORPHA:2850Alopecia-intellectual disability syndrome8
HP:0000135HP:0000135Hypogonadism0KCNAB2 CL E G H85146229ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional1
HP:0000135HP:0000135Hypogonadism0KIAA1549 CL E G H5767022219ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000135HP:0000135Hypogonadism0KISS1 CL E G H38146341OMIM:614842Hypogonadotropic hypogonadism 13 with or without anosmia3
HP:0000135HP:0000135Hypogonadism0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadism3
HP:0000135HP:0000135Hypogonadism0KISS1R CL E G H846344510OMIM:614837Hypogonadotropic hypogonadism 8 with or without anosmia14
HP:0000135HP:0000135Hypogonadism0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadism14
HP:0000135HP:0000135Hypogonadism0KIZ CL E G H5585715865ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent3
HP:0000135HP:0000135Hypogonadism0KLHL7 CL E G H5597515646ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent42
HP:0000135HP:0000135Hypogonadism0KRAS CL E G H38456407ORPHA:648Noonan syndrome196
HP:0000135HP:0000135Hypogonadism0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndrome8
HP:0000135HP:0000135Hypogonadism0LEP CL E G H39526553OMIM:614962Leptin deficiency or dysfunction.47
HP:0000135HP:0000135Hypogonadism0LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiency47
HP:0000135HP:0000135Hypogonadism0LEPR CL E G H39536554OMIM:614963Leptin receptor deficiency46
HP:0000135HP:0000135Hypogonadism0LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiency46
HP:0000135HP:0000135Hypogonadism0LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia9
HP:0000135HP:0000135Hypogonadism0LHCGR CL E G H39736585OMIM:238320Hypergonadotropic hypogonadism67
HP:0000135HP:0000135Hypogonadism0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function51
HP:0000135HP:0000135Hypogonadism0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic forms43
HP:0000135HP:0000135Hypogonadism0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function43
HP:0000135HP:0000135Hypogonadism0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy1
HP:0000135HP:0000135Hypogonadism0LIMK1 CL E G H39846613ORPHA:904Williams syndrome
HP:0000135HP:0000135Hypogonadism0LMNA CL E G H40006636ORPHA:79474Atypical Werner syndromeHP:0040281 - Very frequent645
HP:0000135HP:0000135Hypogonadism0LMNA CL E G H40006636ORPHA:2229Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome645
HP:0000135HP:0000135Hypogonadism0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndrome645
HP:0000135HP:0000135Hypogonadism0LMNA CL E G H40006636OMIM:212112Malouf syndrome645
HP:0000135HP:0000135Hypogonadism0LRAT CL E G H92276685ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent62
HP:0000135HP:0000135Hypogonadism0LSS CL E G H40476708ORPHA:2850Alopecia-intellectual disability syndrome2
HP:0000135HP:0000135Hypogonadism0LUZP1 CL E G H779814985ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000135HP:0000135Hypogonadism0LZTFL1 CL E G H545856741ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent4
HP:0000135HP:0000135Hypogonadism0LZTFL1 CL E G H545856741OMIM:615994BARDET-BIEDL SYNDROME 17; BBS174
HP:0000135HP:0000135Hypogonadism0LZTR1 CL E G H82166742ORPHA:648Noonan syndrome43
HP:0000135HP:0000135Hypogonadism0MAD2L2 CL E G H104596764ORPHA:84Fanconi anemiaHP:0040283 - Occasional1
HP:0000135HP:0000135Hypogonadism0MAGEL2 CL E G H545516814ORPHA:398069MAGEL2-related Prader-Willi-like syndromeHP:0040282 - Frequent63
HP:0000135HP:0000135Hypogonadism0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000135HP:0000135Hypogonadism0MAGEL2 CL E G H545516814ORPHA:177910Prader-Willi syndrome due to imprinting mutation63
HP:0000135HP:0000135Hypogonadism0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1563
HP:0000135HP:0000135Hypogonadism0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 163
HP:0000135HP:0000135Hypogonadism0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 263
HP:0000135HP:0000135Hypogonadism0MAGEL2 CL E G H545516814OMIM:615547Schaaf-Yang syndrome.63
HP:0000135HP:0000135Hypogonadism0MAK CL E G H41176816ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent53
HP:0000135HP:0000135Hypogonadism0MAP2K1 CL E G H56046840OMIM:163950Noonan syndrome 1HP:0040283 - Occasional134
HP:0000135HP:0000135Hypogonadism0MAP3K1 CL E G H42146848ORPHA:24246,XY complete gonadal dysgenesis13
HP:0000135HP:0000135Hypogonadism0MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesis13
HP:0000135HP:0000135Hypogonadism0MDM2 CL E G H41936973OMIM:618681LESSEL-KUBISCH SYNDROME; LSKB1
HP:0000135HP:0000135Hypogonadism0MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0000135HP:0000135Hypogonadism0MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040281 - Very frequent462
HP:0000135HP:0000135Hypogonadism0MERTK CL E G H104617027ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent75
HP:0000135HP:0000135Hypogonadism0METTL27 CL E G H15536819068ORPHA:904Williams syndrome1
HP:0000135HP:0000135Hypogonadism0MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 1111
HP:0000135HP:0000135Hypogonadism0MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndrome11
HP:0000135HP:0000135Hypogonadism0MKKS CL E G H81957108ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent69
HP:0000135HP:0000135Hypogonadism0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000135HP:0000135Hypogonadism0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000135HP:0000135Hypogonadism0MKS1 CL E G H549037121ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent127
HP:0000135HP:0000135Hypogonadism0MLXIPL CL E G H5108512744ORPHA:904Williams syndrome1
HP:0000135HP:0000135Hypogonadism0MMP23B CL E G H85107171ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000135HP:0000135Hypogonadism0MRAS CL E G H228087227ORPHA:648Noonan syndrome
HP:0000135HP:0000135Hypogonadism0MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorder532
HP:0000135HP:0000135Hypogonadism0MRPS7 CL E G H5108114499OMIM:617872Combined oxidative phosphorylation deficiency 34.12
HP:0000135HP:0000135Hypogonadism0MYH3 CL E G H46217573ORPHA:2990Autosomal recessive multiple pterygium syndromeHP:0040282 - Frequent166
HP:0000135HP:0000135Hypogonadism0NCF1 CL E G H6533617660ORPHA:904Williams syndrome13
HP:0000135HP:0000135Hypogonadism0ND1 CL E G H45357455ORPHA:550MELAS
HP:0000135HP:0000135Hypogonadism0ND4 CL E G H45387459ORPHA:550MELAS
HP:0000135HP:0000135Hypogonadism0ND5 CL E G H45407461ORPHA:550MELAS
HP:0000135HP:0000135Hypogonadism0ND6 CL E G H45417462ORPHA:550MELAS
HP:0000135HP:0000135Hypogonadism0NDN CL E G H46927675ORPHA:177910Prader-Willi syndrome due to imprinting mutation
HP:0000135HP:0000135Hypogonadism0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0000135HP:0000135Hypogonadism0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0000135HP:0000135Hypogonadism0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0000135HP:0000135Hypogonadism0NDNF CL E G H7962526256ORPHA:478Kallmann syndrome
HP:0000135HP:0000135Hypogonadism0NECTIN1 CL E G H58189706ORPHA:3253Cleft lip/palate-ectodermal dysplasia syndromeHP:0040282 - Frequent4
HP:0000135HP:0000135Hypogonadism0NEK2 CL E G H47517745ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0000135HP:0000135Hypogonadism0NF2 CL E G H47717773ORPHA:2495Meningioma220
HP:0000135HP:0000135Hypogonadism0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000135HP:0000135Hypogonadism0NPHP1 CL E G H48677905ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent85
HP:0000135HP:0000135Hypogonadism0NR0B1 CL E G H1907960ORPHA:39346,XX testicular disorder of sex development48
HP:0000135HP:0000135Hypogonadism0NR0B1 CL E G H1907960ORPHA:24246,XY complete gonadal dysgenesis48
HP:0000135HP:0000135Hypogonadism0NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesis48
HP:0000135HP:0000135Hypogonadism0NR0B1 CL E G H1907960OMIM:300200Adrenal hypoplasia, congenital48
HP:0000135HP:0000135Hypogonadism0NR2E3 CL E G H100027974ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent58
HP:0000135HP:0000135Hypogonadism0NR5A1 CL E G H25167983ORPHA:39346,XX testicular disorder of sex development38
HP:0000135HP:0000135Hypogonadism0NR5A1 CL E G H25167983ORPHA:24246,XY complete gonadal dysgenesis38
HP:0000135HP:0000135Hypogonadism0NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesis38
HP:0000135HP:0000135Hypogonadism0NRAS CL E G H48937989ORPHA:648Noonan syndrome102
HP:0000135HP:0000135Hypogonadism0NRL CL E G H49018002ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent30
HP:0000135HP:0000135Hypogonadism0NSMF CL E G H2601229843OMIM:614838Hypogonadotropic hypogonadism 9 with or without anosmia6
HP:0000135HP:0000135Hypogonadism0NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadism6
HP:0000135HP:0000135Hypogonadism0NTN1 CL E G H94238029ORPHA:238722Familial congenital mirror movements
HP:0000135HP:0000135Hypogonadism0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15121
HP:0000135HP:0000135Hypogonadism0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1121
HP:0000135HP:0000135Hypogonadism0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2121
HP:0000135HP:0000135Hypogonadism0OFD1 CL E G H84812567ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent201
HP:0000135HP:0000135Hypogonadism0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare214
HP:0000135HP:0000135Hypogonadism0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic forms41
HP:0000135HP:0000135Hypogonadism0PALB2 CL E G H7972826144ORPHA:84Fanconi anemiaHP:0040283 - Occasional1349
HP:0000135HP:0000135Hypogonadism0PCARE CL E G H38893934383ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000135HP:0000135Hypogonadism0PCSK1 CL E G H51228743OMIM:600955Proprotein convertase 1/3 deficiency65
HP:0000135HP:0000135Hypogonadism0PDE4D CL E G H51448783ORPHA:950AcrodysostosisHP:0040283 - Occasional113
HP:0000135HP:0000135Hypogonadism0PDE4D CL E G H51448783ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040282 - Frequent113
HP:0000135HP:0000135Hypogonadism0PDE6A CL E G H51458785ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent116
HP:0000135HP:0000135Hypogonadism0PDE6B CL E G H51588786ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent126
HP:0000135HP:0000135Hypogonadism0PDE6G CL E G H51488789ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent18
HP:0000135HP:0000135Hypogonadism0PDGFB CL E G H51558800ORPHA:2495Meningioma9
HP:0000135HP:0000135Hypogonadism0PDPN CL E G H1063029602ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000135HP:0000135Hypogonadism0PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent169
HP:0000135HP:0000135Hypogonadism0PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040281 - Very frequent98
HP:0000135HP:0000135Hypogonadism0PHF6 CL E G H8429518145ORPHA:127Borjeson-Forssman-Lehmann syndromeHP:0040281 - Very frequent29
HP:0000135HP:0000135Hypogonadism0PHGDH CL E G H262278923ORPHA:793513-phosphoglycerate dehydrogenase deficiency, infantile/juvenile formHP:0040283 - Occasional37
HP:0000135HP:0000135Hypogonadism0PIK3CA CL E G H52908975ORPHA:2495Meningioma162
HP:0000135HP:0000135Hypogonadism0PLXND1 CL E G H231299107ORPHA:570Moebius syndrome
HP:0000135HP:0000135Hypogonadism0PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia150
HP:0000135HP:0000135Hypogonadism0PMM2 CL E G H53739115ORPHA:79318PMM2-CDG150
HP:0000135HP:0000135Hypogonadism0PNPLA6 CL E G H1090816268ORPHA:1180Ataxia-hypogonadism-choroidal dystrophy syndrome103
HP:0000135HP:0000135Hypogonadism0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0000135HP:0000135Hypogonadism0PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040281 - Very frequent103
HP:0000135HP:0000135Hypogonadism0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome103
HP:0000135HP:0000135Hypogonadism0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0000135HP:0000135Hypogonadism0POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch type2
HP:0000135HP:0000135Hypogonadism0POLD1 CL E G H54249175OMIM:615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome.731
HP:0000135HP:0000135Hypogonadism0POLE CL E G H54269177ORPHA:85173IMAGe syndromeHP:0040281 - Very frequent1129
HP:0000135HP:0000135Hypogonadism0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy464
HP:0000135HP:0000135Hypogonadism0POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1464
HP:0000135HP:0000135Hypogonadism0POLR1C CL E G H953320194ORPHA:88637Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome38
HP:0000135HP:0000135Hypogonadism0POLR3A CL E G H1112830074ORPHA:88637Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome138
HP:0000135HP:0000135Hypogonadism0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism138
HP:0000135HP:0000135Hypogonadism0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndrome138
HP:0000135HP:0000135Hypogonadism0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndrome138
HP:0000135HP:0000135Hypogonadism0POLR3B CL E G H5570330348ORPHA:88637Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome67
HP:0000135HP:0000135Hypogonadism0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism67
HP:0000135HP:0000135Hypogonadism0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism67
HP:0000135HP:0000135Hypogonadism0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0000135HP:0000135Hypogonadism0POMGNT1 CL E G H5562419139ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent180
HP:0000135HP:0000135Hypogonadism0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic forms36
HP:0000135HP:0000135Hypogonadism0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function36
HP:0000135HP:0000135Hypogonadism0PPM1B CL E G H54959276ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent
HP:0000135HP:0000135Hypogonadism0PRCD CL E G H76820632528ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent39
HP:0000135HP:0000135Hypogonadism0PRDM13 CL E G H5933613998OMIM:619761CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH2
HP:0000135HP:0000135Hypogonadism0PRDM16 CL E G H6397614000ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional148
HP:0000135HP:0000135Hypogonadism0PREPL CL E G H958130228ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent7
HP:0000135HP:0000135Hypogonadism0PRKAR1A CL E G H55739388ORPHA:950AcrodysostosisHP:0040283 - Occasional134
HP:0000135HP:0000135Hypogonadism0PRKAR1A CL E G H55739388OMIM:101800Acrodysostosis 1, with or without hormone resistance.134
HP:0000135HP:0000135Hypogonadism0PRKAR1A CL E G H55739388ORPHA:280651Acrodysostosis with multiple hormone resistanceHP:0040282 - Frequent134
HP:0000135HP:0000135Hypogonadism0PRKCZ CL E G H55909412ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000135HP:0000135Hypogonadism0PRLR CL E G H56189446ORPHA:397685Familial hyperprolactinemia2
HP:0000135HP:0000135Hypogonadism0PROK2 CL E G H6067518455OMIM:610628Hypogonadotropic hypogonadism 4 with or without anosmia9
HP:0000135HP:0000135Hypogonadism0PROK2 CL E G H6067518455ORPHA:478Kallmann syndrome9
HP:0000135HP:0000135Hypogonadism0PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadism9
HP:0000135HP:0000135Hypogonadism0PROKR2 CL E G H12867415836OMIM:244200Hypogonadotropic hypogonadism 3 with or without anosmia34
HP:0000135HP:0000135Hypogonadism0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndrome34
HP:0000135HP:0000135Hypogonadism0PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadism34
HP:0000135HP:0000135Hypogonadism0PROM1 CL E G H88429454ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent110
HP:0000135HP:0000135Hypogonadism0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic forms54
HP:0000135HP:0000135Hypogonadism0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or function54
HP:0000135HP:0000135Hypogonadism0PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarism54
HP:0000135HP:0000135Hypogonadism0PROP1 CL E G H56269455OMIM:262600Pituitary hormone deficiency, combined, 2.54
HP:0000135HP:0000135Hypogonadism0PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000135HP:0000135Hypogonadism0PRPF3 CL E G H912917348ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0000135HP:0000135Hypogonadism0PRPF31 CL E G H2612115446ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent70
HP:0000135HP:0000135Hypogonadism0PRPF4 CL E G H912817349ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent2
HP:0000135HP:0000135Hypogonadism0PRPF6 CL E G H2414815860ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent51
HP:0000135HP:0000135Hypogonadism0PRPF8 CL E G H1059417340ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent94
HP:0000135HP:0000135Hypogonadism0PRPH2 CL E G H59619942ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent159
HP:0000135HP:0000135Hypogonadism0PTCH1 CL E G H57279585ORPHA:377Gorlin syndrome665
HP:0000135HP:0000135Hypogonadism0PTCH2 CL E G H86439586ORPHA:377Gorlin syndrome40
HP:0000135HP:0000135Hypogonadism0PTDSS1 CL E G H97919587ORPHA:2658Lenz-Majewski hyperostotic dwarfismHP:0040283 - Occasional6
HP:0000135HP:0000135Hypogonadism0PTPN11 CL E G H57819644ORPHA:648Noonan syndrome291
HP:0000135HP:0000135Hypogonadism0PTPN11 CL E G H57819644OMIM:163950Noonan syndrome 1HP:0040283 - Occasional291
HP:0000135HP:0000135Hypogonadism0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000135HP:0000135Hypogonadism0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000135HP:0000135Hypogonadism0RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome90
HP:0000135HP:0000135Hypogonadism0RAB3GAP1 CL E G H2293017063OMIM:619420MARTSOLF SYNDROME 2; MARTS290
HP:0000135HP:0000135Hypogonadism0RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndrome135
HP:0000135HP:0000135Hypogonadism0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1135
HP:0000135HP:0000135Hypogonadism0RAD51 CL E G H58889817ORPHA:238722Familial congenital mirror movements9
HP:0000135HP:0000135Hypogonadism0RAD51 CL E G H58889817ORPHA:84Fanconi anemiaHP:0040283 - Occasional9
HP:0000135HP:0000135Hypogonadism0RAD51C CL E G H58899820ORPHA:84Fanconi anemiaHP:0040283 - Occasional391
HP:0000135HP:0000135Hypogonadism0RAF1 CL E G H58949829ORPHA:648Noonan syndrome212
HP:0000135HP:0000135Hypogonadism0RASA2 CL E G H59229872ORPHA:648Noonan syndrome3
HP:0000135HP:0000135Hypogonadism0RBM28 CL E G H5513121863OMIM:612079Alopecia, neurologic defects, and endocrinopathy syndrome.1
HP:0000135HP:0000135Hypogonadism0RBM28 CL E G H5513121863ORPHA:157954ANE syndrome1
HP:0000135HP:0000135Hypogonadism0RBP3 CL E G H59499921ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent108
HP:0000135HP:0000135Hypogonadism0RDH12 CL E G H14522619977ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0000135HP:0000135Hypogonadism0RECQL4 CL E G H94019949OMIM:268400ROTHMUND-THOMSON SYNDROME; RTS445
HP:0000135HP:0000135Hypogonadism0REEP6 CL E G H9284030078ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent5
HP:0000135HP:0000135Hypogonadism0RERE CL E G H4739965ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional16
HP:0000135HP:0000135Hypogonadism0REV3L CL E G H59809968ORPHA:570Moebius syndrome3
HP:0000135HP:0000135Hypogonadism0RFC2 CL E G H59829970ORPHA:904Williams syndrome
HP:0000135HP:0000135Hypogonadism0RFWD3 CL E G H5515925539ORPHA:84Fanconi anemiaHP:0040283 - Occasional
HP:0000135HP:0000135Hypogonadism0RGR CL E G H59959990ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent28
HP:0000135HP:0000135Hypogonadism0RHO CL E G H601010012ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent107
HP:0000135HP:0000135Hypogonadism0RIN2 CL E G H5445318750OMIM:613075Macs syndrome43
HP:0000135HP:0000135Hypogonadism0RIN2 CL E G H5445318750ORPHA:217335RIN2 syndrome43
HP:0000135HP:0000135Hypogonadism0RIT1 CL E G H601610023ORPHA:648Noonan syndrome39
HP:0000135HP:0000135Hypogonadism0RLBP1 CL E G H601710024ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent47
HP:0000135HP:0000135Hypogonadism0RNF216 CL E G H5447621698OMIM:212840Cerebellar ataxia and hypogonadotropic hypogonadism10
HP:0000135HP:0000135Hypogonadism0RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040281 - Very frequent10
HP:0000135HP:0000135Hypogonadism0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndrome15
HP:0000135HP:0000135Hypogonadism0ROM1 CL E G H609410254ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent38
HP:0000135HP:0000135Hypogonadism0RP1 CL E G H610110263ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent111
HP:0000135HP:0000135Hypogonadism0RP1L1 CL E G H9413715946ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent284
HP:0000135HP:0000135Hypogonadism0RP2 CL E G H610210274ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent45
HP:0000135HP:0000135Hypogonadism0RP9 CL E G H610010288ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0000135HP:0000135Hypogonadism0RPE65 CL E G H612110294ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent129
HP:0000135HP:0000135Hypogonadism0RPGR CL E G H610310295ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent200
HP:0000135HP:0000135Hypogonadism0RRAS CL E G H623710447ORPHA:648Noonan syndrome
HP:0000135HP:0000135Hypogonadism0RRAS2 CL E G H2280017271ORPHA:648Noonan syndrome1
HP:0000135HP:0000135Hypogonadism0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy125
HP:0000135HP:0000135Hypogonadism0SAG CL E G H629510521ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent32
HP:0000135HP:0000135Hypogonadism0SAMD9 CL E G H548091348OMIM:617053Mirage syndrome8
HP:0000135HP:0000135Hypogonadism0SCAPER CL E G H4985513081ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent
HP:0000135HP:0000135Hypogonadism0SCAPER CL E G H4985513081ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent
HP:0000135HP:0000135Hypogonadism0SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy4
HP:0000135HP:0000135Hypogonadism0SDCCAG8 CL E G H1080610671ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent61
HP:0000135HP:0000135Hypogonadism0SDCCAG8 CL E G H1080610671OMIM:615993Bardet-Biedl syndrome 16.61
HP:0000135HP:0000135Hypogonadism0SEMA3A CL E G H1037110723OMIM:614897Hypogonadotropic hypogonadism 16 with or without anosmia14
HP:0000135HP:0000135Hypogonadism0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndrome14
HP:0000135HP:0000135Hypogonadism0SEMA3E CL E G H972310727ORPHA:138CHARGE syndrome16
HP:0000135HP:0000135Hypogonadism0SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia16
HP:0000135HP:0000135Hypogonadism0SEMA4A CL E G H6421810729ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000135HP:0000135Hypogonadism0SGPL1 CL E G H887910817OMIM:617575Nephrotic syndrome, type 14.8
HP:0000135HP:0000135Hypogonadism0SIL1 CL E G H6437424624ORPHA:559Marinesco-Sjögren syndromeHP:0040281 - Very frequent67
HP:0000135HP:0000135Hypogonadism0SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome67
HP:0000135HP:0000135Hypogonadism0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040281 - Very frequent40
HP:0000135HP:0000135Hypogonadism0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 320
HP:0000135HP:0000135Hypogonadism0SKI CL E G H649710896ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional150
HP:0000135HP:0000135Hypogonadism0SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68
HP:0000135HP:0000135Hypogonadism0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0000135HP:0000135Hypogonadism0SLC39A4 CL E G H5563017129OMIM:201100Acrodermatitis enteropathica, Zinc-Deficiency type.55
HP:0000135HP:0000135Hypogonadism0SLC3A1 CL E G H651911025ORPHA:1636932p21 microdeletion syndromeHP:0040281 - Very frequent55
HP:0000135HP:0000135Hypogonadism0SLC7A14 CL E G H5770929326ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent4
HP:0000135HP:0000135Hypogonadism0SLX4 CL E G H8446423845ORPHA:84Fanconi anemiaHP:0040283 - Occasional274
HP:0000135HP:0000135Hypogonadism0SMAD4 CL E G H40896770ORPHA:2588Myhre syndromeHP:0040283 - Occasional504
HP:0000135HP:0000135Hypogonadism0SMARCB1 CL E G H659811103ORPHA:2495Meningioma87
HP:0000135HP:0000135Hypogonadism0SMARCE1 CL E G H660511109ORPHA:2495Meningioma47
HP:0000135HP:0000135Hypogonadism0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0000135HP:0000135Hypogonadism0SMCHD1 CL E G H2334729090ORPHA:2250Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndromeHP:0040281 - Very frequent174
HP:0000135HP:0000135Hypogonadism0SMO CL E G H660811119ORPHA:2495Meningioma22
HP:0000135HP:0000135Hypogonadism0SNAP29 CL E G H934211133ORPHA:66631CEDNIK syndromeHP:0040283 - Occasional94
HP:0000135HP:0000135Hypogonadism0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000135HP:0000135Hypogonadism0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000135HP:0000135Hypogonadism0SNRNP200 CL E G H2302030859ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent83
HP:0000135HP:0000135Hypogonadism0SNRPN CL E G H663811164ORPHA:177910Prader-Willi syndrome due to imprinting mutation37
HP:0000135HP:0000135Hypogonadism0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 1537
HP:0000135HP:0000135Hypogonadism0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 137
HP:0000135HP:0000135Hypogonadism0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 237
HP:0000135HP:0000135Hypogonadism0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocation37
HP:0000135HP:0000135Hypogonadism0SOS1 CL E G H665411187ORPHA:648Noonan syndrome315
HP:0000135HP:0000135Hypogonadism0SOS2 CL E G H665511188ORPHA:648Noonan syndrome30
HP:0000135HP:0000135Hypogonadism0SOX10 CL E G H666311190ORPHA:478Kallmann syndrome61
HP:0000135HP:0000135Hypogonadism0SOX10 CL E G H666311190ORPHA:163746Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung diseaseHP:0040282 - Frequent61
HP:0000135HP:0000135Hypogonadism0SOX10 CL E G H666311190OMIM:613266Waardenburg syndrome, type 4C.61
HP:0000135HP:0000135Hypogonadism0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 333
HP:0000135HP:0000135Hypogonadism0SOX3 CL E G H665811199ORPHA:39346,XX testicular disorder of sex development24
HP:0000135HP:0000135Hypogonadism0SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarism24
HP:0000135HP:0000135Hypogonadism0SOX9 CL E G H666211204ORPHA:39346,XX testicular disorder of sex development109
HP:0000135HP:0000135Hypogonadism0SOX9 CL E G H666211204ORPHA:24246,XY complete gonadal dysgenesis109
HP:0000135HP:0000135Hypogonadism0SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesis109
HP:0000135HP:0000135Hypogonadism0SPATA7 CL E G H5581220423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent48
HP:0000135HP:0000135Hypogonadism0SPEN CL E G H2301317575ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional4
HP:0000135HP:0000135Hypogonadism0SPRED2 CL E G H20073417722ORPHA:648Noonan syndrome
HP:0000135HP:0000135Hypogonadism0SPRY4 CL E G H8184815533OMIM:615266Hypogonadotropic hypogonadism 17 with or without anosmia5
HP:0000135HP:0000135Hypogonadism0SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia5
HP:0000135HP:0000135Hypogonadism0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndrome5
HP:0000135HP:0000135Hypogonadism0SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadism5
HP:0000135HP:0000135Hypogonadism0SQSTM1 CL E G H887811280OMIM:617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset62
HP:0000135HP:0000135Hypogonadism0SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia
HP:0000135HP:0000135Hypogonadism0SRY CL E G H673611311ORPHA:39346,XX testicular disorder of sex development23
HP:0000135HP:0000135Hypogonadism0SRY CL E G H673611311ORPHA:24246,XY complete gonadal dysgenesis23
HP:0000135HP:0000135Hypogonadism0SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesis23
HP:0000135HP:0000135Hypogonadism0STEAP3 CL E G H5524024592OMIM:615234Anemia, hypochromic microcytic, with iron overload 2.1
HP:0000135HP:0000135Hypogonadism0STEAP3 CL E G H5524024592ORPHA:300298Severe congenital hypochromic anemia with ringed sideroblastsHP:0040282 - Frequent1
HP:0000135HP:0000135Hypogonadism0STS CL E G H41211425ORPHA:281090Syndromic recessive X-linked ichthyosisHP:0040283 - Occasional19
HP:0000135HP:0000135Hypogonadism0STUB1 CL E G H1027311427ORPHA:412057Autosomal recessive cerebellar ataxia due to STUB1 deficiencyHP:0040283 - Occasional14
HP:0000135HP:0000135Hypogonadism0STUB1 CL E G H1027311427OMIM:615768Spinocerebellar ataxia, autosomal recessive 16.14
HP:0000135HP:0000135Hypogonadism0STX1A CL E G H680411433ORPHA:904Williams syndrome
HP:0000135HP:0000135Hypogonadism0SUFU CL E G H5168416466ORPHA:377Gorlin syndrome124
HP:0000135HP:0000135Hypogonadism0SUFU CL E G H5168416466ORPHA:2495Meningioma124
HP:0000135HP:0000135Hypogonadism0TAC3 CL E G H686611521OMIM:614839Hypogonadotropic hypogonadism 10 with or without anosmia6
HP:0000135HP:0000135Hypogonadism0TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadism6
HP:0000135HP:0000135Hypogonadism0TACR3 CL E G H687011528OMIM:614840Hypogonadotropic hypogonadism 11 with or without anosmia34
HP:0000135HP:0000135Hypogonadism0TACR3 CL E G H687011528ORPHA:478Kallmann syndrome34
HP:0000135HP:0000135Hypogonadism0TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadism34
HP:0000135HP:0000135Hypogonadism0TBL2 CL E G H2660811586ORPHA:904Williams syndrome
HP:0000135HP:0000135Hypogonadism0TCF12 CL E G H693811623OMIM:619718HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH2628
HP:0000135HP:0000135Hypogonadism0TERT CL E G H701511730ORPHA:2495Meningioma238
HP:0000135HP:0000135Hypogonadism0TFR2 CL E G H703611762OMIM:604250Hemochromatosis, type 367
HP:0000135HP:0000135Hypogonadism0TGFB1 CL E G H704011766ORPHA:1328Camurati-Engelmann diseaseHP:0040283 - Occasional13
HP:0000135HP:0000135Hypogonadism0TMEM270 CL E G H13588623018ORPHA:904Williams syndrome
HP:0000135HP:0000135Hypogonadism0TOPORS CL E G H1021021653ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent61
HP:0000135HP:0000135Hypogonadism0TP53 CL E G H715711998OMIM:618165Bone marrow failure syndrome 5.911
HP:0000135HP:0000135Hypogonadism0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3140
HP:0000135HP:0000135Hypogonadism0TRAF3IP1 CL E G H2614617861OMIM:616629Senior-Loken syndrome 9HP:0040283 - Occasional6
HP:0000135HP:0000135Hypogonadism0TRAF7 CL E G H8423120456ORPHA:2495Meningioma
HP:0000135HP:0000135Hypogonadism0TRIM32 CL E G H2295416380ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent108
HP:0000135HP:0000135Hypogonadism0TRIM32 CL E G H2295416380OMIM:615988Bardet-Biedl syndrome 11.108
HP:0000135HP:0000135Hypogonadism0TRNF CL E G H45587481ORPHA:550MELAS
HP:0000135HP:0000135Hypogonadism0TRNH CL E G H45647487ORPHA:550MELAS
HP:0000135HP:0000135Hypogonadism0TRNL1 CL E G H45677490ORPHA:550MELAS
HP:0000135HP:0000135Hypogonadism0TRNQ CL E G H45727495ORPHA:550MELAS
HP:0000135HP:0000135Hypogonadism0TRNS1 CL E G H45747497ORPHA:550MELAS
HP:0000135HP:0000135Hypogonadism0TRNS2 CL E G H45757498ORPHA:550MELAS
HP:0000135HP:0000135Hypogonadism0TRNW CL E G H45787501ORPHA:550MELAS
HP:0000135HP:0000135Hypogonadism0TTC8 CL E G H12301620087ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent41
HP:0000135HP:0000135Hypogonadism0TTC8 CL E G H12301620087OMIM:615985Bardet-Biedl syndrome 8.41
HP:0000135HP:0000135Hypogonadism0TTC8 CL E G H12301620087ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent41
HP:0000135HP:0000135Hypogonadism0TUB CL E G H727512406ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent1
HP:0000135HP:0000135Hypogonadism0TULP1 CL E G H728712423ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent66
HP:0000135HP:0000135Hypogonadism0TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type)113
HP:0000135HP:0000135Hypogonadism0TWNK CL E G H566521160OMIM:616138Perrault syndrome 5113
HP:0000135HP:0000135Hypogonadism0TWNK CL E G H566521160OMIM:609286Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3HP:0040283 - Occasional113
HP:0000135HP:0000135Hypogonadism0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy138
HP:0000135HP:0000135Hypogonadism0UBE2T CL E G H2908925009ORPHA:84Fanconi anemiaHP:0040283 - Occasional2
HP:0000135HP:0000135Hypogonadism0UBE4B CL E G H1027712500ORPHA:16061p36 deletion syndromeHP:0040283 - Occasional
HP:0000135HP:0000135Hypogonadism0USH2A CL E G H739912601ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent777
HP:0000135HP:0000135Hypogonadism0USP7 CL E G H787412630ORPHA:50005516p13.2 microdeletion syndromeHP:0040282 - Frequent2
HP:0000135HP:0000135Hypogonadism0VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesis2
HP:0000135HP:0000135Hypogonadism0VPS37D CL E G H15538218287ORPHA:904Williams syndrome
HP:0000135HP:0000135Hypogonadism0VPS4A CL E G H2718313488OMIM:619273CIMDAG SYNDROME; CIMDAG1
HP:0000135HP:0000135Hypogonadism0WDPCP CL E G H5105728027ORPHA:110Bardet-Biedl syndromeHP:0040282 - Frequent60
HP:0000135HP:0000135Hypogonadism0WDR11 CL E G H5571713831OMIM:614858Hypogonadotropic hypogonadism 14 with or without anosmia10
HP:0000135HP:0000135Hypogonadism0WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia10
HP:0000135HP:0000135Hypogonadism0WDR11 CL E G H5571713831ORPHA:478Kallmann syndrome10
HP:0000135HP:0000135Hypogonadism0WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadism10
HP:0000135HP:0000135Hypogonadism0WFS1 CL E G H746612762ORPHA:3463Wolfram syndromeHP:0040283 - Occasional389
HP:0000135HP:0000135Hypogonadism0WFS1 CL E G H746612762ORPHA:411590Wolfram-like syndrome389
HP:0000135HP:0000135Hypogonadism0WRN CL E G H748612791OMIM:277700Werner syndrome.310
HP:0000135HP:0000135Hypogonadism0WRN CL E G H748612791ORPHA:902Werner syndromeHP:0040281 - Very frequent310
HP:0000135HP:0000135Hypogonadism0WT1 CL E G H749012796ORPHA:24246,XY complete gonadal dysgenesis177
HP:0000135HP:0000135Hypogonadism0WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesis177
HP:0000135HP:0000135Hypogonadism0WT1 CL E G H749012796ORPHA:347Frasier syndrome177
HP:0000135HP:0000135Hypogonadism0WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesis149
HP:0000135HP:0000135Hypogonadism0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent34
HP:0000135HP:0000135Hypogonadism0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040281 - Very frequent86
HP:0000135HP:0000135Hypogonadism0XRCC2 CL E G H751612829ORPHA:84Fanconi anemiaHP:0040283 - Occasional125
HP:0000135HP:0000135Hypogonadism0ZBTB20 CL E G H2613713503ORPHA:3042Intellectual disability-cataracts-calcified pinnae-myopathy syndromeHP:0040281 - Very frequent17
HP:0000135HP:0000135Hypogonadism0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0000135HP:0000135Hypogonadism0ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesis31
HP:0000135HP:0000135Hypogonadism0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndrome83
HP:0000135HP:0000135Hypogonadism0ZNF408 CL E G H7979720041ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent14
HP:0000135HP:0000135Hypogonadism0ZNF513 CL E G H13055726498ORPHA:791Retinitis pigmentosaHP:0040281 - Very frequent27
HP:0000135HP:0000026Male hypogonadism1ABCD1 CL E G H21561ORPHA:139396X-linked cerebral adrenoleukodystrophyHP:0040283 - Occasional135
HP:0000135HP:0000815Hypergonadotropic hypogonadism1AHSG CL E G H197349ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent5
HP:0000135HP:0000044Hypogonadotropic hypogonadism1AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0000135HP:0000026Male hypogonadism1AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040281 - Very frequent95
HP:0000135HP:0000134Female hypogonadism1AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040281 - Very frequent95
HP:0000135HP:0000044Hypogonadotropic hypogonadism1AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040281 - Very frequent95
HP:0000135HP:0000134Female hypogonadism1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000135HP:0000026Male hypogonadism1AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000135HP:0000044Hypogonadotropic hypogonadism1AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040282 - Frequent54
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ALMS1 CL E G H7840428ORPHA:64Alström syndromeHP:0040282 - Frequent404
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ALMS1 CL E G H7840428OMIM:203800Alstrom syndrome.404
HP:0000135HP:0000815Hypergonadotropic hypogonadism1AMACR CL E G H23600451OMIM:614307Alpha-methylacyl-CoA racemase deficiency.44
HP:0000135HP:0000026Male hypogonadism1ANAPC1 CL E G H6468219988OMIM:618625ROTHMUND-THOMSON SYNDROME, TYPE 1; RTS12
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040281 - Very frequent150
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040281 - Very frequent65
HP:0000135HP:0000134Female hypogonadism1ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0000135HP:0000044Hypogonadotropic hypogonadism1AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040282 - Frequent184
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BMP15 CL E G H92101068OMIM:300510Ovarian dysgenesis 2.16
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 1.13
HP:0000135HP:0000134Female hypogonadism1BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BMPR1B CL E G H6581077OMIM:609441Acromesomelic dysplasia, Demirhan type.90
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent276
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BRCC3 CL E G H7918424185ORPHA:280679Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndromeHP:0040282 - Frequent8
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040281 - Very frequent317
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CBX2 CL E G H847331552ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent3
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0000135HP:0000026Male hypogonadism1CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040281 - Very frequent636
HP:0000135HP:0000134Female hypogonadism1CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040281 - Very frequent636
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040281 - Very frequent636
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0000135HP:0000134Female hypogonadism1CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0000135HP:0000026Male hypogonadism1CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome14
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040281 - Very frequent515
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CHD7 CL E G H5563620626OMIM:612370Hypogonadotropic hypogonadism 5 with or without anosmia515
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040281 - Very frequent515
HP:0000135HP:0000134Female hypogonadism1CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent515
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent515
HP:0000135HP:0000026Male hypogonadism1CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent515
HP:0000135HP:0000026Male hypogonadism1CISD2 CL E G H49385624212ORPHA:3463Wolfram syndromeHP:0040283 - Occasional3
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CLPP CL E G H81922084OMIM:614129Perrault syndrome 3.13
HP:0000135HP:0000815Hypergonadotropic hypogonadism1COQ2 CL E G H2723525223OMIM:607426Coenzyme Q10 deficiency, primary, 1.54
HP:0000135HP:0000044Hypogonadotropic hypogonadism1COX1 CL E G H45127419ORPHA:550MELASHP:0040284 - Very rare
HP:0000135HP:0000044Hypogonadotropic hypogonadism1COX2 CL E G H45137421ORPHA:550MELASHP:0040284 - Very rare
HP:0000135HP:0000044Hypogonadotropic hypogonadism1COX3 CL E G H45147422ORPHA:550MELASHP:0040284 - Very rare
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040281 - Very frequent17
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent88
HP:0000135HP:0000026Male hypogonadism1CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CYB5A CL E G H15282570ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent2
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CYP17A1 CL E G H15862593ORPHA:9079646,XY disorder of sex development due to isolated 17,20-lyase deficiencyHP:0040281 - Very frequent53
HP:0000135HP:0000026Male hypogonadism1CYP17A1 CL E G H15862593ORPHA:90793Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiencyHP:0040282 - Frequent53
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CYP19A1 CL E G H15882594ORPHA:91Aromatase deficiencyHP:0040281 - Very frequent60
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CYP19A1 CL E G H15882594OMIM:613546Aromatase deficiency.60
HP:0000135HP:0000815Hypergonadotropic hypogonadism1DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DCC CL E G H16302701ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare36
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040281 - Very frequent36
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DHH CL E G H508462865ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent21
HP:0000135HP:0000815Hypergonadotropic hypogonadism1DHH CL E G H508462865OMIM:60708046,XY GONADAL DYSGENESIS, PARTIAL, WITH MINIFASCICULAR NEUROPATHY21
HP:0000135HP:0000026Male hypogonadism1DHH CL E G H508462865ORPHA:16856346,XY gonadal dysgenesis-motor and sensory neuropathy syndromeHP:0040281 - Very frequent21
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DHX37 CL E G H5764717210ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent2
HP:0000135HP:0000815Hypergonadotropic hypogonadism1DHX37 CL E G H5764717210ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DMRT1 CL E G H17612934ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent2
HP:0000135HP:0000815Hypergonadotropic hypogonadism1DMRT3 CL E G H5852413909ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent1
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndromeHP:0040282 - Frequent3
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DNAL4 CL E G H101262955ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare2
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DUSP6 CL E G H18483072OMIM:615269Hypogonadotropic hypogonadism 19 with or without anosmia4
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.4
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0000135HP:0000134Female hypogonadism1DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent4
HP:0000135HP:0000026Male hypogonadism1DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent4
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent4
HP:0000135HP:0000026Male hypogonadism1EIF2S3 CL E G H19683267OMIM:300148Mehmo syndrome8
HP:0000135HP:0000044Hypogonadotropic hypogonadism1EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0000135HP:0000026Male hypogonadism1ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040284 - Very rare20
HP:0000135HP:0000026Male hypogonadism1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040284 - Very rare158
HP:0000135HP:0000026Male hypogonadism1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040284 - Very rare199
HP:0000135HP:0000026Male hypogonadism1ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040284 - Very rare199
HP:0000135HP:0000026Male hypogonadism1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040284 - Very rare55
HP:0000135HP:0000026Male hypogonadism1ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040284 - Very rare55
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FANCA CL E G H21753582OMIM:227650Fanconi anemia.340
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FANCB CL E G H21873583OMIM:300514FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB58
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FANCC CL E G H21763584OMIM:227645Fanconi anemia, complementation group C.410
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FANCD2 CL E G H21773585OMIM:227646Fanconi anemia, complementation group D2147
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FANCE CL E G H21783586OMIM:600901Fanconi anemia, complementation group E.73
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.2
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040281 - Very frequent2
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.3
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040281 - Very frequent3
HP:0000135HP:0000134Female hypogonadism1FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0000135HP:0000026Male hypogonadism1FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FGF8 CL E G H22533686OMIM:612702Hypogonadotropic hypogonadism 6 with or without anosmia.17
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040281 - Very frequent17
HP:0000135HP:0000026Male hypogonadism1FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent17
HP:0000135HP:0000134Female hypogonadism1FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent17
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent17
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia.172
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040281 - Very frequent172
HP:0000135HP:0000026Male hypogonadism1FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent172
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent172
HP:0000135HP:0000134Female hypogonadism1FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent172
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FOXL2 CL E G H6681092ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plusHP:0040283 - Occasional92
HP:0000135HP:0000026Male hypogonadism1FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiencyHP:0040280 - Obligate23
HP:0000135HP:0000134Female hypogonadism1FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiencyHP:0040280 - Obligate23
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiencyHP:0040280 - Obligate23
HP:0000135HP:0000815Hypergonadotropic hypogonadism1GALK1 CL E G H25844118ORPHA:79237Galactokinase deficiencyHP:0040283 - Occasional23
HP:0000135HP:0000815Hypergonadotropic hypogonadism1GALT CL E G H25924135OMIM:230400GALACTOSEMIA.351
HP:0000135HP:0000815Hypergonadotropic hypogonadism1GATA4 CL E G H26264173ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent87
HP:0000135HP:0000044Hypogonadotropic hypogonadism1GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilansHP:0040282 - Frequent199
HP:0000135HP:0000044Hypogonadotropic hypogonadism1GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent173
HP:0000135HP:0000815Hypergonadotropic hypogonadism1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0000135HP:0000815Hypergonadotropic hypogonadism1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0000135HP:0000044Hypogonadotropic hypogonadism1GNRH1 CL E G H27964419OMIM:614841Hypogonadotropic hypogonadism 12 with or without anosmia.15
HP:0000135HP:0000044Hypogonadotropic hypogonadism1GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.15
HP:0000135HP:0000026Male hypogonadism1GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent15
HP:0000135HP:0000134Female hypogonadism1GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent15
HP:0000135HP:0000044Hypogonadotropic hypogonadism1GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent15
HP:0000135HP:0000044Hypogonadotropic hypogonadism1GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.92
HP:0000135HP:0000026Male hypogonadism1GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent92
HP:0000135HP:0000044Hypogonadotropic hypogonadism1GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent92
HP:0000135HP:0000134Female hypogonadism1GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent92
HP:0000135HP:0000044Hypogonadotropic hypogonadism1GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0000135HP:0000044Hypogonadotropic hypogonadism1GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000135HP:0000044Hypogonadotropic hypogonadism1GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000135HP:0000044Hypogonadotropic hypogonadism1GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000135HP:0000044Hypogonadotropic hypogonadism1HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndromeHP:0040282 - Frequent37
HP:0000135HP:0000044Hypogonadotropic hypogonadism1HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000135HP:0000044Hypogonadotropic hypogonadism1HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent21
HP:0000135HP:0000044Hypogonadotropic hypogonadism1HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional21
HP:0000135HP:0000044Hypogonadotropic hypogonadism1HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040281 - Very frequent21
HP:0000135HP:0000044Hypogonadotropic hypogonadism1HFE CL E G H30774886OMIM:235200Hemochromatosis, type 1.38
HP:0000135HP:0000044Hypogonadotropic hypogonadism1HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional38
HP:0000135HP:0000044Hypogonadotropic hypogonadism1HJV CL E G H1487384887OMIM:602390Hemochromatosis, type 2A
HP:0000135HP:0000044Hypogonadotropic hypogonadism1HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040281 - Very frequent8
HP:0000135HP:0000044Hypogonadotropic hypogonadism1HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent8
HP:0000135HP:0000026Male hypogonadism1HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent8
HP:0000135HP:0000134Female hypogonadism1HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent8
HP:0000135HP:0000044Hypogonadotropic hypogonadism1HSD17B3 CL E G H32935212ORPHA:75246,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiencyHP:0040281 - Very frequent31
HP:0000135HP:0000026Male hypogonadism1IFT172 CL E G H2616030391OMIM:619471BARDET-BIEDL SYNDROME 20; BBS2048
HP:0000135HP:0000044Hypogonadotropic hypogonadism1IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0000135HP:0000044Hypogonadotropic hypogonadism1IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ITGB6 CL E G H36946161ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent8
HP:0000135HP:0000044Hypogonadotropic hypogonadism1KISS1 CL E G H38146341OMIM:614842Hypogonadotropic hypogonadism 13 with or without anosmia.3
HP:0000135HP:0000026Male hypogonadism1KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0000135HP:0000044Hypogonadotropic hypogonadism1KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0000135HP:0000134Female hypogonadism1KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0000135HP:0000044Hypogonadotropic hypogonadism1KISS1R CL E G H846344510OMIM:614837Hypogonadotropic hypogonadism 8 with or without anosmia.14
HP:0000135HP:0000134Female hypogonadism1KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent14
HP:0000135HP:0000044Hypogonadotropic hypogonadism1KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent14
HP:0000135HP:0000026Male hypogonadism1KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent14
HP:0000135HP:0000044Hypogonadotropic hypogonadism1KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040281 - Very frequent196
HP:0000135HP:0000044Hypogonadotropic hypogonadism1LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndromeHP:0040282 - Frequent8
HP:0000135HP:0000815Hypergonadotropic hypogonadism1LEP CL E G H39526553ORPHA:66628Obesity due to congenital leptin deficiencyHP:0040281 - Very frequent47
HP:0000135HP:0000815Hypergonadotropic hypogonadism1LEPR CL E G H39536554OMIM:614963Leptin receptor deficiency.46
HP:0000135HP:0000815Hypergonadotropic hypogonadism1LEPR CL E G H39536554ORPHA:179494Obesity due to leptin receptor gene deficiencyHP:0040281 - Very frequent46
HP:0000135HP:0000044Hypogonadotropic hypogonadism1LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia.9
HP:0000135HP:0000026Male hypogonadism1LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia9
HP:0000135HP:0000815Hypergonadotropic hypogonadism1LHCGR CL E G H39736585OMIM:238320Hypergonadotropic hypogonadism.67
HP:0000135HP:0000044Hypogonadotropic hypogonadism1LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional51
HP:0000135HP:0000044Hypogonadotropic hypogonadism1LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent43
HP:0000135HP:0000044Hypogonadotropic hypogonadism1LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional43
HP:0000135HP:0000044Hypogonadotropic hypogonadism1LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional1
HP:0000135HP:0000815Hypergonadotropic hypogonadism1LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional1
HP:0000135HP:0000044Hypogonadotropic hypogonadism1LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000135HP:0000815Hypergonadotropic hypogonadism1LMNA CL E G H40006636ORPHA:2229Dilated cardiomyopathy-hypergonadotropic hypogonadism syndromeHP:0040281 - Very frequent645
HP:0000135HP:0000134Female hypogonadism1LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent645
HP:0000135HP:0000815Hypergonadotropic hypogonadism1LMNA CL E G H40006636OMIM:212112Malouf syndrome.645
HP:0000135HP:0000815Hypergonadotropic hypogonadism1LSS CL E G H40476708ORPHA:2850Alopecia-intellectual disability syndromeHP:0040282 - Frequent2
HP:0000135HP:0000044Hypogonadotropic hypogonadism1LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040281 - Very frequent43
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MAGEL2 CL E G H545516814ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040284 - Very rare63
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MAP3K1 CL E G H42146848ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent13
HP:0000135HP:0000815Hypergonadotropic hypogonadism1MAP3K1 CL E G H42146848ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent13
HP:0000135HP:0000026Male hypogonadism1MECP2 CL E G H42046990OMIM:300055Mental retardation, X-linked, syndromic 13950
HP:0000135HP:0000026Male hypogonadism1MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040281 - Very frequent462
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040281 - Very frequent462
HP:0000135HP:0000134Female hypogonadism1MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040281 - Very frequent462
HP:0000135HP:0000044Hypogonadotropic hypogonadism1METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000135HP:0000815Hypergonadotropic hypogonadism1MGME1 CL E G H9266716205OMIM:615084Mitochondrial DNA depletion syndrome 11.11
HP:0000135HP:0000815Hypergonadotropic hypogonadism1MGME1 CL E G H9266716205ORPHA:352447Progressive external ophthalmoplegia-myopathy-emaciation syndromeHP:0040284 - Very rare11
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000135HP:0000815Hypergonadotropic hypogonadism1MRE11 CL E G H43617230ORPHA:251347Ataxia-telangiectasia-like disorderHP:0040283 - Occasional532
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ND1 CL E G H45357455ORPHA:550MELASHP:0040284 - Very rare
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ND4 CL E G H45387459ORPHA:550MELASHP:0040284 - Very rare
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ND5 CL E G H45407461ORPHA:550MELASHP:0040284 - Very rare
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ND6 CL E G H45417462ORPHA:550MELASHP:0040284 - Very rare
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NDN CL E G H46927675ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040284 - Very rare
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040282 - Frequent220
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000135HP:0000026Male hypogonadism1NR0B1 CL E G H1907960ORPHA:39346,XX testicular disorder of sex developmentHP:0040281 - Very frequent48
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NR0B1 CL E G H1907960ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent48
HP:0000135HP:0000815Hypergonadotropic hypogonadism1NR0B1 CL E G H1907960ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent48
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NR0B1 CL E G H1907960OMIM:300200Adrenal hypoplasia, congenital.48
HP:0000135HP:0000026Male hypogonadism1NR5A1 CL E G H25167983ORPHA:39346,XX testicular disorder of sex developmentHP:0040281 - Very frequent38
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NR5A1 CL E G H25167983ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent38
HP:0000135HP:0000815Hypergonadotropic hypogonadism1NR5A1 CL E G H25167983ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent38
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040281 - Very frequent102
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NSMF CL E G H2601229843OMIM:614838Hypogonadotropic hypogonadism 9 with or without anosmia.6
HP:0000135HP:0000026Male hypogonadism1NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0000135HP:0000134Female hypogonadism1NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NTN1 CL E G H94238029ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare
HP:0000135HP:0000044Hypogonadotropic hypogonadism1OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent121
HP:0000135HP:0000044Hypogonadotropic hypogonadism1OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0000135HP:0000044Hypogonadotropic hypogonadism1OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0000135HP:0000044Hypogonadotropic hypogonadism1OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent41
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PCSK1 CL E G H51228743OMIM:600955Proprotein convertase 1/3 deficiency.65
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040282 - Frequent9
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040282 - Frequent162
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040283 - Occasional
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PMM2 CL E G H53739115OMIM:212065Congenital disorder of glycosylation, type Ia.150
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PNPLA6 CL E G H1090816268ORPHA:1180Ataxia-hypogonadism-choroidal dystrophy syndromeHP:0040281 - Very frequent103
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040281 - Very frequent103
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome.103
HP:0000135HP:0000044Hypogonadotropic hypogonadism1POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0000135HP:0000026Male hypogonadism1POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040281 - Very frequent2
HP:0000135HP:0000815Hypergonadotropic hypogonadism1POLA1 CL E G H54229173ORPHA:163976X-linked intellectual disability, Van Esch typeHP:0040281 - Very frequent2
HP:0000135HP:0000044Hypogonadotropic hypogonadism1POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional464
HP:0000135HP:0000815Hypergonadotropic hypogonadism1POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional464
HP:0000135HP:0000815Hypergonadotropic hypogonadism1POLG CL E G H54289179OMIM:157640Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1.464
HP:0000135HP:0000815Hypergonadotropic hypogonadism1POLR1C CL E G H953320194ORPHA:88637Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndromeHP:0040281 - Very frequent38
HP:0000135HP:0000815Hypergonadotropic hypogonadism1POLR3A CL E G H1112830074ORPHA:88637Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndromeHP:0040281 - Very frequent138
HP:0000135HP:0000044Hypogonadotropic hypogonadism1POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.138
HP:0000135HP:0000044Hypogonadotropic hypogonadism1POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0000135HP:0000044Hypogonadotropic hypogonadism1POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0000135HP:0000815Hypergonadotropic hypogonadism1POLR3B CL E G H5570330348ORPHA:88637Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndromeHP:0040281 - Very frequent67
HP:0000135HP:0000044Hypogonadotropic hypogonadism1POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.67
HP:0000135HP:0000044Hypogonadotropic hypogonadism1POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadismHP:0040283 - Occasional67
HP:0000135HP:0000044Hypogonadotropic hypogonadism1POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0000135HP:0000044Hypogonadotropic hypogonadism1POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent36
HP:0000135HP:0000044Hypogonadotropic hypogonadism1POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional36
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PRDM13 CL E G H5933613998OMIM:619761CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH2
HP:0000135HP:0000134Female hypogonadism1PRLR CL E G H56189446ORPHA:397685Familial hyperprolactinemiaHP:0040283 - Occasional2
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PROK2 CL E G H6067518455OMIM:610628Hypogonadotropic hypogonadism 4 with or without anosmia.9
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0000135HP:0000134Female hypogonadism1PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent9
HP:0000135HP:0000026Male hypogonadism1PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent9
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent9
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PROKR2 CL E G H12867415836OMIM:244200Hypogonadotropic hypogonadism 3 with or without anosmia.34
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0000135HP:0000026Male hypogonadism1PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0000135HP:0000134Female hypogonadism1PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent54
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional54
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent54
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PRORP CL E G H969219958OMIM:619737COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040283 - Occasional665
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040283 - Occasional40
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040281 - Very frequent291
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040281 - Very frequent90
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RAB3GAP1 CL E G H2293017063OMIM:619420MARTSOLF SYNDROME 2; MARTS290
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040281 - Very frequent135
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RAD51 CL E G H58889817ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare9
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040281 - Very frequent212
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040281 - Very frequent3
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RBM28 CL E G H5513121863OMIM:612079Alopecia, neurologic defects, and endocrinopathy syndrome1
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1
HP:0000135HP:0000044Hypogonadotropic hypogonadism1REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040283 - Occasional3
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RIN2 CL E G H5445318750OMIM:613075Macs syndromeHP:0040283 - Occasional43
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RIN2 CL E G H5445318750ORPHA:217335RIN2 syndromeHP:0040283 - Occasional43
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040281 - Very frequent39
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RNF216 CL E G H5447621698OMIM:212840Cerebellar ataxia and hypogonadotropic hypogonadism.10
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040281 - Very frequent10
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040281 - Very frequent1
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional125
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional125
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SAMD9 CL E G H548091348OMIM:617053Mirage syndrome.8
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SCP2 CL E G H634210606OMIM:613724Leukoencephalopathy with dystonia and motor neuropathy.4
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040281 - Very frequent14
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040281 - Very frequent16
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.16
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SIL1 CL E G H6437424624OMIM:248800Marinesco-Sjogren syndrome.67
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040282 - Frequent40
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040282 - Frequent87
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040282 - Frequent47
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040282 - Frequent22
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SNRPN CL E G H663811164ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040284 - Very rare37
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent37
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040282 - Frequent37
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040281 - Very frequent315
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040281 - Very frequent30
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040281 - Very frequent61
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0000135HP:0000026Male hypogonadism1SOX3 CL E G H665811199ORPHA:39346,XX testicular disorder of sex developmentHP:0040281 - Very frequent24
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent24
HP:0000135HP:0000026Male hypogonadism1SOX9 CL E G H666211204ORPHA:39346,XX testicular disorder of sex developmentHP:0040281 - Very frequent109
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SOX9 CL E G H666211204ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent109
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SOX9 CL E G H666211204ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent109
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SPRY4 CL E G H8184815533OMIM:615266Hypogonadotropic hypogonadism 17 with or without anosmia5
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.5
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040281 - Very frequent5
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent5
HP:0000135HP:0000134Female hypogonadism1SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent5
HP:0000135HP:0000026Male hypogonadism1SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent5
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SQSTM1 CL E G H887811280OMIM:617145Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset62
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0000135HP:0000026Male hypogonadism1SRY CL E G H673611311ORPHA:39346,XX testicular disorder of sex developmentHP:0040281 - Very frequent23
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SRY CL E G H673611311ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent23
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SRY CL E G H673611311ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent23
HP:0000135HP:0000044Hypogonadotropic hypogonadism1STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040283 - Occasional124
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040282 - Frequent124
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TAC3 CL E G H686611521OMIM:614839Hypogonadotropic hypogonadism 10 with or without anosmia.6
HP:0000135HP:0000026Male hypogonadism1TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0000135HP:0000134Female hypogonadism1TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TACR3 CL E G H687011528OMIM:614840Hypogonadotropic hypogonadism 11 with or without anosmia34
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0000135HP:0000026Male hypogonadism1TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0000135HP:0000134Female hypogonadism1TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TCF12 CL E G H693811623OMIM:619718HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH2628
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040282 - Frequent238
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TFR2 CL E G H703611762OMIM:604250Hemochromatosis, type 367
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040282 - Frequent
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TRNF CL E G H45587481ORPHA:550MELASHP:0040284 - Very rare
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TRNH CL E G H45647487ORPHA:550MELASHP:0040284 - Very rare
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TRNL1 CL E G H45677490ORPHA:550MELASHP:0040284 - Very rare
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TRNQ CL E G H45727495ORPHA:550MELASHP:0040284 - Very rare
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TRNS1 CL E G H45747497ORPHA:550MELASHP:0040284 - Very rare
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TRNS2 CL E G H45757498ORPHA:550MELASHP:0040284 - Very rare
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TRNW CL E G H45787501ORPHA:550MELASHP:0040284 - Very rare
HP:0000135HP:0000815Hypergonadotropic hypogonadism1TWNK CL E G H566521160OMIM:271245Mitochondrial DNA depletion syndrome 7 (hepatocerebral type).113
HP:0000135HP:0000815Hypergonadotropic hypogonadism1TWNK CL E G H566521160OMIM:616138Perrault syndrome 5.113
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional138
HP:0000135HP:0000815Hypergonadotropic hypogonadism1TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional138
HP:0000135HP:0000815Hypergonadotropic hypogonadism1VAMP7 CL E G H684511486ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent2
HP:0000135HP:0000044Hypogonadotropic hypogonadism1VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000135HP:0000044Hypogonadotropic hypogonadism1WDR11 CL E G H5571713831OMIM:614858Hypogonadotropic hypogonadism 14 with or without anosmia10
HP:0000135HP:0000044Hypogonadotropic hypogonadism1WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.10
HP:0000135HP:0000044Hypogonadotropic hypogonadism1WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040281 - Very frequent10
HP:0000135HP:0000044Hypogonadotropic hypogonadism1WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent10
HP:0000135HP:0000026Male hypogonadism1WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent10
HP:0000135HP:0000134Female hypogonadism1WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent10
HP:0000135HP:0000026Male hypogonadism1WFS1 CL E G H746612762ORPHA:3463Wolfram syndromeHP:0040283 - Occasional389
HP:0000135HP:0000026Male hypogonadism1WFS1 CL E G H746612762ORPHA:411590Wolfram-like syndromeHP:0040282 - Frequent389
HP:0000135HP:0000044Hypogonadotropic hypogonadism1WT1 CL E G H749012796ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent177
HP:0000135HP:0000815Hypergonadotropic hypogonadism1WT1 CL E G H749012796ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent177
HP:0000135HP:0000815Hypergonadotropic hypogonadism1WT1 CL E G H749012796ORPHA:347Frasier syndromeHP:0040281 - Very frequent177
HP:0000135HP:0000815Hypergonadotropic hypogonadism1WWOX CL E G H5174112799ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent149
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ZBTB20 CL E G H2613713503OMIM:259050Primrose syndromeHP:0040283 - Occasional17
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ZFPM2 CL E G H2341416700ORPHA:25151046,XY partial gonadal dysgenesisHP:0040281 - Very frequent31
HP:0000135HP:0000134Female hypogonadism1ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent83


Genes (421) :ABCA4 ABCD1 AGBL5 AHI1 AHR AHSG AIP AIRE AKT1 ALG1 ALMS1 ALX4 AMACR ANAPC1 ANK1 ANOS1 ANTXR1 AR ARHGEF18 ARL2BP ARL3 ARL6 ARSL ATM ATRX AXL BAP1 BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCL7B BCS1L BEST1 BMP15 BMP2 BMP4 BMP6 BMPR1B BRAF BRCA1 BRCA2 BRCC3 BRIP1 BUD23 CA4 CAMKMT CASZ1 CBL CBX2 CCDC141 CCDC28B CDH23 CDHR1 CDKN1C CEP19 CEP290 CERKL CFAP418 CHD4 CHD7 CHRNG CISD2 CLIP2 CLPP CLRN1 CNBP CNGA1 CNGB1 COQ2 COX1 COX2 COX3 CPE CRB1 CRX CTDP1 CTNNB1 CTNS CUL4B CYB5A CYP17A1 CYP19A1 DCAF17 DCC DDB2 DHDDS DHH DHX37 DHX38 DMPK DMRT1 DMRT3 DMXL2 DNAJC30 DNAL4 DNM1L DUSP6 EIF2S3 EIF4H ELN ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 EYS FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FEZF1 FGF17 FGF8 FGFR1 FKBP6 FLRT3 FMR1 FOXA2 FOXL2 FSCN2 FSHB GABRD GALK1 GALT GATA4 GJB2 GLI2 GNAS GNRH1 GNRHR GPR101 GTF2I GTF2IRD1 GTF2IRD2 GUCA1B HAMP HBB HDAC8 HERC2 HESX1 HFE HGSNAT HJV HS6ST1 HSD17B3 HSPG2 IDH3A IDH3B IER3IP1 IFT140 IFT172 IFT27 IFT74 IFT88 IGF1 IL17RD IMPDH1 IMPG1 IMPG2 INPP5K IPW ITGB6 KCNAB2 KIAA1549 KISS1 KISS1R KIZ KLHL7 KRAS LAS1L LEP LEPR LHB LHCGR LHX3 LHX4 LIG3 LIMK1 LMNA LRAT LSS LUZP1 LZTFL1 LZTR1 MAD2L2 MAGEL2 MAK MAP2K1 MAP3K1 MDM2 MECP2 MEN1 MERTK METTL27 MGME1 MKKS MKRN3 MKRN3-AS1 MKS1 MLXIPL MMP23B MRAS MRE11 MRPS7 MYH3 NCF1 ND1 ND4 ND5 ND6 NDN NDNF NECTIN1 NEK2 NF2 NPAP1 NPHP1 NR0B1 NR2E3 NR5A1 NRAS NRL NSMF NTN1 OCA2 OFD1 OPA1 OTX2 PALB2 PCARE PCSK1 PDE4D PDE6A PDE6B PDE6G PDGFB PDPN PEX1 PEX6 PHF6 PHGDH PIK3CA PLXND1 PMM2 PNPLA6 POLA1 POLD1 POLE POLG POLR1C POLR3A POLR3B POLR3K POMGNT1 POU1F1 PPM1B PRCD PRDM13 PRDM16 PREPL PRKAR1A PRKCZ PRLR PROK2 PROKR2 PROM1 PROP1 PRORP PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PTCH1 PTCH2 PTDSS1 PTPN11 PWAR1 PWRN1 RAB3GAP1 RAB3GAP2 RAD51 RAD51C RAF1 RASA2 RBM28 RBP3 RDH12 RECQL4 REEP6 RERE REV3L RFC2 RFWD3 RGR RHO RIN2 RIT1 RLBP1 RNF216 RNU4ATAC ROM1 RP1 RP1L1 RP2 RP9 RPE65 RPGR RRAS RRAS2 RRM2B SAG SAMD9 SCAPER SCP2 SDCCAG8 SEMA3A SEMA3E SEMA4A SGPL1 SIL1 SIM1 SIX6 SKI SLC29A3 SLC39A4 SLC3A1 SLC7A14 SLX4 SMAD4 SMARCB1 SMARCE1 SMCHD1 SMO SNAP29 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOS1 SOS2 SOX10 SOX2 SOX3 SOX9 SPATA7 SPEN SPRED2 SPRY4 SQSTM1 SRA1 SRY STEAP3 STS STUB1 STX1A SUFU TAC3 TACR3 TBL2 TCF12 TERT TFR2 TGFB1 TMEM270 TOPORS TP53 TP63 TRAF3IP1 TRAF7 TRIM32 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TTC8 TUB TULP1 TWNK TYMP UBE2T UBE4B USH2A USP7 VAMP7 VPS37D VPS4A WDPCP WDR11 WFS1 WRN WT1 WWOX XPA XPC XRCC2 ZBTB20 ZFPM2 ZMPSTE24 ZNF408 ZNF513

Diseases (249) :ORPHA:791 OMIM:300100 ORPHA:139396 ORPHA:2850 ORPHA:963 ORPHA:2965 OMIM:240300 ORPHA:2495 OMIM:608540 ORPHA:64 OMIM:203800 ORPHA:228390 OMIM:614307 ORPHA:79095 ORPHA:221008 OMIM:618625 ORPHA:251066 OMIM:308700 ORPHA:478 ORPHA:2067 OMIM:312300 ORPHA:110 OMIM:209900 OMIM:302950 OMIM:208900 OMIM:309580 OMIM:146110 ORPHA:904 OMIM:615987 OMIM:615989 OMIM:615981 OMIM:615982 OMIM:615983 OMIM:615984 ORPHA:123 OMIM:300510 OMIM:235200 OMIM:607932 ORPHA:465508 OMIM:609441 ORPHA:54595 OMIM:163950 ORPHA:84 ORPHA:280679 ORPHA:163693 ORPHA:1606 ORPHA:648 ORPHA:242 ORPHA:91347 ORPHA:85173 OMIM:617159 OMIM:214800 ORPHA:138 OMIM:612370 ORPHA:432 ORPHA:2990 ORPHA:3463 OMIM:614129 OMIM:602668 OMIM:607426 ORPHA:550 OMIM:619326 OMIM:604168 ORPHA:48431 OMIM:219800 OMIM:300354 ORPHA:85293 ORPHA:90796 ORPHA:90793 OMIM:613546 ORPHA:91 OMIM:241080 ORPHA:3464 ORPHA:238722 ORPHA:910 OMIM:607080 ORPHA:168563 ORPHA:251510 OMIM:160900 OMIM:616113 ORPHA:453533 ORPHA:98673 OMIM:615269 OMIM:300148 ORPHA:90322 ORPHA:1466 OMIM:601675 OMIM:610651 ORPHA:90321 OMIM:216400 OMIM:227650 OMIM:300514 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:616030 OMIM:615270 OMIM:612702 OMIM:147950 ORPHA:261483 ORPHA:95494 ORPHA:572333 OMIM:229070 ORPHA:52901 ORPHA:79237 OMIM:230400 ORPHA:494 OMIM:615849 ORPHA:79443 ORPHA:79444 OMIM:103580 OMIM:612462 OMIM:614841 ORPHA:79230 OMIM:613313 ORPHA:231222 OMIM:300882 ORPHA:3459 OMIM:176270 ORPHA:226307 OMIM:602390 ORPHA:752 OMIM:614231 OMIM:619471 OMIM:615996 OMIM:617119 ORPHA:73272 OMIM:615267 ORPHA:559 OMIM:614842 OMIM:614837 OMIM:614962 ORPHA:66628 OMIM:614963 ORPHA:179494 OMIM:228300 OMIM:238320 ORPHA:298 ORPHA:79474 ORPHA:2229 ORPHA:740 OMIM:212112 OMIM:615994 ORPHA:398069 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:615547 OMIM:618681 OMIM:300055 OMIM:615084 ORPHA:352447 ORPHA:251347 OMIM:617872 ORPHA:3253 ORPHA:393 OMIM:300200 OMIM:614838 OMIM:600955 ORPHA:950 ORPHA:280651 ORPHA:3220 ORPHA:127 ORPHA:79351 ORPHA:570 OMIM:212065 ORPHA:79318 ORPHA:1180 OMIM:215470 ORPHA:1173 OMIM:275400 OMIM:301030 ORPHA:163976 OMIM:615381 OMIM:157640 ORPHA:88637 OMIM:607694 ORPHA:447896 ORPHA:3455 OMIM:614381 OMIM:619310 OMIM:619761 OMIM:101800 ORPHA:397685 OMIM:610628 OMIM:244200 ORPHA:90695 OMIM:262600 OMIM:619737 ORPHA:377 ORPHA:2658 ORPHA:1387 OMIM:619420 OMIM:212720 OMIM:612079 ORPHA:157954 OMIM:268400 OMIM:613075 ORPHA:217335 OMIM:212840 ORPHA:353298 OMIM:617053 OMIM:613724 OMIM:615993 OMIM:614897 OMIM:617575 OMIM:248800 ORPHA:398079 OMIM:206900 ORPHA:168569 OMIM:602782 OMIM:201100 ORPHA:2588 OMIM:603457 ORPHA:2250 ORPHA:66631 ORPHA:177907 ORPHA:163746 OMIM:613266 OMIM:615266 OMIM:617145 OMIM:615234 ORPHA:300298 ORPHA:281090 ORPHA:412057 OMIM:615768 OMIM:614839 OMIM:614840 OMIM:619718 OMIM:604250 ORPHA:1328 OMIM:618165 OMIM:604292 OMIM:616629 OMIM:615988 OMIM:615985 OMIM:271245 OMIM:616138 OMIM:609286 ORPHA:500055 OMIM:619273 OMIM:614858 ORPHA:411590 OMIM:277700 ORPHA:902 ORPHA:347 ORPHA:3042 OMIM:259050
 

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