Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the endocrine system (HP:0000818)help
Parent Node:
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Abnormality of reproductive system physiology (HP:0000080)help
Parent Node:
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Puberty and gonadal disorders (HP:0008373)help
..Starting node
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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 entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000135HP:0000135Hypogonadism0ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000135HP:0000135Hypogonadism0ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM1149261300371
HP:0000135HP:0000135Hypogonadism0AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000135HP:0000135Hypogonadism0AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000135HP:0000135Hypogonadism0AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000135HP:0000135Hypogonadism0ALG1 CL E G H5605279327ORPHA164818294605907
HP:0000135HP:0000135Hypogonadism0ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0000135HP:0000135Hypogonadism0ALX4 CL E G H60529228390ORPHA1281450605420
HP:0000135HP:0000135Hypogonadism0AR CL E G H367312300Partial androgen insensitivity syndrome312300C0268301OMIM1649644313700
HP:0000135HP:0000135Hypogonadism0ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000135HP:0000135Hypogonadism0ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000135HP:0000135Hypogonadism0ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000135HP:0000135Hypogonadism0ARL6 CL E G H84100110ORPHA120113210608845
HP:0000135HP:0000135Hypogonadism0ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000135HP:0000135Hypogonadism0ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM1719300180
HP:0000135HP:0000135Hypogonadism0ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000135HP:0000135Hypogonadism0BBIP1 CL E G H92482110ORPHA19828093613605
HP:0000135HP:0000135Hypogonadism0BBS1 CL E G H582110ORPHA1874966209901
HP:0000135HP:0000135Hypogonadism0BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000135HP:0000135Hypogonadism0BBS10 CL E G H79738110ORPHA175626291610148
HP:0000135HP:0000135Hypogonadism0BBS10 CL E G H79738615987Bardet-Biedl syndrome 10615987C1859568OMIM175626291610148
HP:0000135HP:0000135Hypogonadism0BBS12 CL E G H166379110ORPHA163426648610683
HP:0000135HP:0000135Hypogonadism0BBS12 CL E G H166379615989Bardet-Biedl syndrome 12615989C1859570OMIM163426648610683
HP:0000135HP:0000135Hypogonadism0BBS2 CL E G H583110ORPHA1894967606151
HP:0000135HP:0000135Hypogonadism0BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000135HP:0000135Hypogonadism0BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1894967606151
HP:0000135HP:0000135Hypogonadism0BBS4 CL E G H585110ORPHA1563969600374
HP:0000135HP:0000135Hypogonadism0BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM1563969600374
HP:0000135HP:0000135Hypogonadism0BBS5 CL E G H129880110ORPHA1288970603650
HP:0000135HP:0000135Hypogonadism0BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM1288970603650
HP:0000135HP:0000135Hypogonadism0BBS7 CL E G H55212110ORPHA150618758607590
HP:0000135HP:0000135Hypogonadism0BBS9 CL E G H27241110ORPHA177530000607968
HP:0000135HP:0000135Hypogonadism0BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000135HP:0000135Hypogonadism0BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000135HP:0000135Hypogonadism0C8orf37 CL E G H157657110ORPHA127232614477
HP:0000135HP:0000135Hypogonadism0C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000135HP:0000135Hypogonadism0CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000135HP:0000135Hypogonadism0CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0000135HP:0000135Hypogonadism0CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000135HP:0000135Hypogonadism0CDKN1C CL E G H102885173ORPHA110681786600856
HP:0000135HP:0000135Hypogonadism0CEP290 CL E G H80184110ORPHA1294429021610142
HP:0000135HP:0000135Hypogonadism0CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000135HP:0000135Hypogonadism0CHRNG CL E G H11462990ORPHA12571967100730
HP:0000135HP:0000135Hypogonadism0CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000135HP:0000135Hypogonadism0CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM12413164116955
HP:0000135HP:0000135Hypogonadism0CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000135HP:0000135Hypogonadism0CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000135HP:0000135Hypogonadism0CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000135HP:0000135Hypogonadism0CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000135HP:0000135Hypogonadism0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM14152555300304
HP:0000135HP:0000135Hypogonadism0DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000135HP:0000135Hypogonadism0DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000135HP:0000135Hypogonadism0DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000135HP:0000135Hypogonadism0DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0000135HP:0000135Hypogonadism0DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0000135HP:0000135Hypogonadism0ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000135HP:0000135Hypogonadism0ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000135HP:0000135Hypogonadism0ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000135HP:0000135Hypogonadism0ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM115723434126340
HP:0000135HP:0000135Hypogonadism0ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000135HP:0000135Hypogonadism0ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000135HP:0000135Hypogonadism0ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000135HP:0000135Hypogonadism0ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000135HP:0000135Hypogonadism0ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000135HP:0000135Hypogonadism0ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000135HP:0000135Hypogonadism0ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000135HP:0000135Hypogonadism0EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000135HP:0000135Hypogonadism0FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000135HP:0000135Hypogonadism0FEZF1 CL E G H389549616030Hypogonadotropic hypogonadism 22 with or without anosmia616030C4014988OMIM110922788613301
HP:0000135HP:0000135Hypogonadism0FGF17 CL E G H8822615270Hypogonadotropic hypogonadism 20 with or without anosmia615270C3808983OMIM11193673603725
HP:0000135HP:0000135Hypogonadism0FMR1 CL E G H2332261483ORPHA13713775309550
HP:0000135HP:0000135Hypogonadism0FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000135HP:0000135Hypogonadism0FSHB CL E G H2488229070Follicle-stimulating hormone deficiency, isolated229070C1856716OMIM1713964136530
HP:0000135HP:0000135Hypogonadism0GLI2 CL E G H2736615849Culler-Jones syndrome615849C4014479OMIM18324318165230
HP:0000135HP:0000135Hypogonadism0GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM16444392139320
HP:0000135HP:0000135Hypogonadism0GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM16444392139320
HP:0000135HP:0000135Hypogonadism0GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000135HP:0000135Hypogonadism0HAMP CL E G H5781779230ORPHA16715598606464
HP:0000135HP:0000135Hypogonadism0HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM16715598606464
HP:0000135HP:0000135Hypogonadism0HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM138113315300269
HP:0000135HP:0000135Hypogonadism0HFE CL E G H3077465508ORPHA12374886613609
HP:0000135HP:0000135Hypogonadism0HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000135HP:0000135Hypogonadism0HJV CL E G H14873879230ORPHA14704887608374
HP:0000135HP:0000135Hypogonadism0IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000135HP:0000135Hypogonadism0IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000135HP:0000135Hypogonadism0IFT172 CL E G H26160110ORPHA1135630391607386
HP:0000135HP:0000135Hypogonadism0IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000135HP:0000135Hypogonadism0IFT27 CL E G H11020110ORPHA116118626615870
HP:0000135HP:0000135Hypogonadism0IFT27 CL E G H11020615996Bardet-Biedl syndrome 19615996C3889475OMIM116118626615870
HP:0000135HP:0000135Hypogonadism0IFT74 CL E G H80173617119Bardet-Biedl syndrome 20617119C4310707OMIM152321424608040
HP:0000135HP:0000135Hypogonadism0IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000135HP:0000135Hypogonadism0IGF1 CL E G H347973272ORPHA11975464147440
HP:0000135HP:0000135Hypogonadism0IL17RD CL E G H54756615267Hypogonadotropic hypogonadism 18 with or without anosmia615267C3808975OMIM116317616606807
HP:0000135HP:0000135Hypogonadism0IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000135HP:0000135Hypogonadism0IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000135HP:0000135Hypogonadism0INPP5K CL E G H51763559ORPHA118733882607875
HP:0000135HP:0000135Hypogonadism0KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000135HP:0000135Hypogonadism0KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000135HP:0000135Hypogonadism0KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000135HP:0000135Hypogonadism0LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0000135HP:0000135Hypogonadism0LEP CL E G H3952614962Leptin deficiency or dysfunction614962C3554224OMIM11296553164160
HP:0000135HP:0000135Hypogonadism0LMNA CL E G H400079474ORPHA118146636150330
HP:0000135HP:0000135Hypogonadism0LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000135HP:0000135Hypogonadism0LZTFL1 CL E G H54585110ORPHA11626741606568
HP:0000135HP:0000135Hypogonadism0LZTFL1 CL E G H54585615994Bardet-Biedl syndrome 17615994C3714980OMIM11626741606568
HP:0000135HP:0000135Hypogonadism0MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM110136814605283
HP:0000135HP:0000135Hypogonadism0MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000135HP:0000135Hypogonadism0MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000135HP:0000135Hypogonadism0MKKS CL E G H8195110ORPHA14327108604896
HP:0000135HP:0000135Hypogonadism0MKS1 CL E G H54903110ORPHA18397121609883
HP:0000135HP:0000135Hypogonadism0MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0000135HP:0000135Hypogonadism0NECTIN1 CL E G H58183253Limb dystoniaORPHA12339706600644
HP:0000135HP:0000135Hypogonadism0NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000135HP:0000135Hypogonadism0NPHP1 CL E G H4867110ORPHA18157905607100
HP:0000135HP:0000135Hypogonadism0NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000135HP:0000135Hypogonadism0NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000135HP:0000135Hypogonadism0OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000135HP:0000135Hypogonadism0PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000135HP:0000135Hypogonadism0PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12038773604961
HP:0000135HP:0000135Hypogonadism0PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000135HP:0000135Hypogonadism0PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000135HP:0000135Hypogonadism0PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000135HP:0000135Hypogonadism0PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000135HP:0000135Hypogonadism0PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12438794603390
HP:0000135HP:0000135Hypogonadism0PEX1 CL E G H51893220ORPHA115378850602136
HP:0000135HP:0000135Hypogonadism0PEX6 CL E G H51903220ORPHA114588859601498
HP:0000135HP:0000135Hypogonadism0PHF6 CL E G H84295127ORPHA132218145300414
HP:0000135HP:0000135Hypogonadism0PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA16948923606879
HP:0000135HP:0000135Hypogonadism0POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000135HP:0000135Hypogonadism0POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000135HP:0000135Hypogonadism0PPM1B CL E G H5495163693ORPHA1459276603770
HP:0000135HP:0000135Hypogonadism0PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000135HP:0000135Hypogonadism0PREPL CL E G H9581163693ORPHA170830228609557
HP:0000135HP:0000135Hypogonadism0PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1439380601639
HP:0000135HP:0000135Hypogonadism0PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000135HP:0000135Hypogonadism0PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM111319388188830
HP:0000135HP:0000135Hypogonadism0PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA111319388188830
HP:0000135HP:0000135Hypogonadism0PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000135HP:0000135Hypogonadism0PROP1 CL E G H5626262600Pituitary hormone deficiency, combined 2262600C0878683OMIM12619455601538
HP:0000135HP:0000135Hypogonadism0PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000135HP:0000135Hypogonadism0PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000135HP:0000135Hypogonadism0PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000135HP:0000135Hypogonadism0PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000135HP:0000135Hypogonadism0PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000135HP:0000135Hypogonadism0PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000135HP:0000135Hypogonadism0PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA149819129610936
HP:0000135HP:0000135Hypogonadism0RBM28 CL E G H55131612079Alopecia, neurologic defects, and endocrinopathy syndrome612079C2677535OMIM18121863612074
HP:0000135HP:0000135Hypogonadism0RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000135HP:0000135Hypogonadism0RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000135HP:0000135Hypogonadism0RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM142599949603780
HP:0000135HP:0000135Hypogonadism0REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000135HP:0000135Hypogonadism0RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000135HP:0000135Hypogonadism0RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000135HP:0000135Hypogonadism0RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000135HP:0000135Hypogonadism0ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000135HP:0000135Hypogonadism0RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000135HP:0000135Hypogonadism0RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000135HP:0000135Hypogonadism0RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000135HP:0000135Hypogonadism0RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000135HP:0000135Hypogonadism0RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000135HP:0000135Hypogonadism0SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000135HP:0000135Hypogonadism0SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000135HP:0000135Hypogonadism0SDCCAG8 CL E G H10806110ORPHA165110671613524
HP:0000135HP:0000135Hypogonadism0SDCCAG8 CL E G H10806615993Bardet-Biedl syndrome 16615993C3889474OMIM165110671613524
HP:0000135HP:0000135Hypogonadism0SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000135HP:0000135Hypogonadism0SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0000135HP:0000135Hypogonadism0SIL1 CL E G H64374559ORPHA135224624608005
HP:0000135HP:0000135Hypogonadism0SIN3A CL E G H2594294065ORPHA140019353607776
HP:0000135HP:0000135Hypogonadism0SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM173617129607059
HP:0000135HP:0000135Hypogonadism0SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0000135HP:0000135Hypogonadism0SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000135HP:0000135Hypogonadism0SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM1134129090614982
HP:0000135HP:0000135Hypogonadism0SMCHD1 CL E G H233472250Familial band heterotopiaORPHA1134129090614982
HP:0000135HP:0000135Hypogonadism0SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000135HP:0000135Hypogonadism0SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000135HP:0000135Hypogonadism0SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000135HP:0000135Hypogonadism0SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000135HP:0000135Hypogonadism0STEAP3 CL E G H55240300298ORPHA19424592609671
HP:0000135HP:0000135Hypogonadism0STEAP3 CL E G H55240615234Hypochromic microcytic anemia with iron overload 2615234C3808920OMIM19424592609671
HP:0000135HP:0000135Hypogonadism0STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM122611427607207
HP:0000135HP:0000135Hypogonadism0TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000135HP:0000135Hypogonadism0TRIM32 CL E G H22954110ORPHA162716380602290
HP:0000135HP:0000135Hypogonadism0TRIM32 CL E G H22954615988Bardet-Biedl syndrome 11615988C1859569OMIM162716380602290
HP:0000135HP:0000135Hypogonadism0TTC8 CL E G H123016110ORPHA142720087608132
HP:0000135HP:0000135Hypogonadism0TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000135HP:0000135Hypogonadism0TTC8 CL E G H123016615985Bardet-Biedl syndrome 8615985C1859566OMIM142720087608132
HP:0000135HP:0000135Hypogonadism0TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000135HP:0000135Hypogonadism0TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000135HP:0000135Hypogonadism0USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000135HP:0000135Hypogonadism0WDPCP CL E G H51057110ORPHA158728027613580
HP:0000135HP:0000135Hypogonadism0WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1313012791604611
HP:0000135HP:0000135Hypogonadism0WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1313012791604611
HP:0000135HP:0000135Hypogonadism0XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000135HP:0000135Hypogonadism0XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000135HP:0000135Hypogonadism0ZBTB20 CL E G H261373042ORPHA125213503606025
HP:0000135HP:0000135Hypogonadism0ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000135HP:0000135Hypogonadism0ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000135HP:0000134Female hypogonadism1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000135HP:0000026Male hypogonadism1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ABCA4 CL E G H24791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1323334601691
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM1149261300371
HP:0000135HP:0000134Female hypogonadism1ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM1149261300371
HP:0000135HP:0000026Male hypogonadism1ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM1149261300371
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ABCD1 CL E G H215300100Adrenoleukodystrophy300100C0162309OMIM1149261300371
HP:0000135HP:0000026Male hypogonadism1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000135HP:0000044Hypogonadotropic hypogonadism1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000135HP:0000815Hypergonadotropic hypogonadism1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000135HP:0000134Female hypogonadism1AGBL5 CL E G H60509791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA160126147615900
HP:0000135HP:0000044Hypogonadotropic hypogonadism1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000135HP:0000815Hypergonadotropic hypogonadism1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000135HP:0000134Female hypogonadism1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000135HP:0000026Male hypogonadism1AHI1 CL E G H54806791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1119421575608894
HP:0000135HP:0000815Hypergonadotropic hypogonadism1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000135HP:0000134Female hypogonadism1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000135HP:0000026Male hypogonadism1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000135HP:0000044Hypogonadotropic hypogonadism1AHR CL E G H196791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1479348600253
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ALG1 CL E G H5605279327ORPHA164818294605907
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ALG1 CL E G H5605279327ORPHA164818294605907
HP:0000135HP:0000134Female hypogonadism1ALG1 CL E G H5605279327ORPHA164818294605907
HP:0000135HP:0000026Male hypogonadism1ALG1 CL E G H5605279327ORPHA164818294605907
HP:0000135HP:0000026Male hypogonadism1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0000135HP:0000134Female hypogonadism1ALG1 CL E G H56052608540Congenital disorder of glycosylation type 1K608540C2931005OMIM164818294605907
HP:0000135HP:0000026Male hypogonadism1ALX4 CL E G H60529228390ORPHA1281450605420
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ALX4 CL E G H60529228390ORPHA1281450605420
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ALX4 CL E G H60529228390ORPHA1281450605420
HP:0000135HP:0000134Female hypogonadism1ALX4 CL E G H60529228390ORPHA1281450605420
HP:0000135HP:0000026Male hypogonadism1AR CL E G H367312300Partial androgen insensitivity syndrome312300C0268301OMIM1649644313700
HP:0000135HP:0000044Hypogonadotropic hypogonadism1AR CL E G H367312300Partial androgen insensitivity syndrome312300C0268301OMIM1649644313700
HP:0000135HP:0000815Hypergonadotropic hypogonadism1AR CL E G H367312300Partial androgen insensitivity syndrome312300C0268301OMIM1649644313700
HP:0000135HP:0000134Female hypogonadism1AR CL E G H367312300Partial androgen insensitivity syndrome312300C0268301OMIM1649644313700
HP:0000135HP:0000134Female hypogonadism1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000135HP:0000026Male hypogonadism1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ARHGEF18 CL E G H23370791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA191217090616432
HP:0000135HP:0000026Male hypogonadism1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000135HP:0000134Female hypogonadism1ARL2BP CL E G H23568791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111317146615407
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000135HP:0000134Female hypogonadism1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000135HP:0000026Male hypogonadism1ARL3 CL E G H403791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1137694604695
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ARL6 CL E G H84100110ORPHA120113210608845
HP:0000135HP:0000134Female hypogonadism1ARL6 CL E G H84100110ORPHA120113210608845
HP:0000135HP:0000026Male hypogonadism1ARL6 CL E G H84100110ORPHA120113210608845
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ARL6 CL E G H84100110ORPHA120113210608845
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000135HP:0000134Female hypogonadism1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000135HP:0000026Male hypogonadism1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ARL6 CL E G H84100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA120113210608845
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM1719300180
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM1719300180
HP:0000135HP:0000134Female hypogonadism1ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM1719300180
HP:0000135HP:0000026Male hypogonadism1ARSE CL E G H415302950Chondrodysplasia punctata 1, X-linked recessive302950C1844853OMIM1719300180
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000135HP:0000134Female hypogonadism1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000135HP:0000026Male hypogonadism1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ATRX CL E G H546309580Mental retardation-hypotonic facies syndrome X-linked, 1309580C0796003OMIM11925886300032
HP:0000135HP:0000134Female hypogonadism1BBIP1 CL E G H92482110ORPHA19828093613605
HP:0000135HP:0000026Male hypogonadism1BBIP1 CL E G H92482110ORPHA19828093613605
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BBIP1 CL E G H92482110ORPHA19828093613605
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BBIP1 CL E G H92482110ORPHA19828093613605
HP:0000135HP:0000026Male hypogonadism1BBS1 CL E G H582110ORPHA1874966209901
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BBS1 CL E G H582110ORPHA1874966209901
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BBS1 CL E G H582110ORPHA1874966209901
HP:0000135HP:0000134Female hypogonadism1BBS1 CL E G H582110ORPHA1874966209901
HP:0000135HP:0000134Female hypogonadism1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000135HP:0000026Male hypogonadism1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BBS1 CL E G H582209900Bardet-Biedl syndrome 1209900C2936862OMIM1874966209901
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BBS10 CL E G H79738110ORPHA175626291610148
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BBS10 CL E G H79738110ORPHA175626291610148
HP:0000135HP:0000134Female hypogonadism1BBS10 CL E G H79738110ORPHA175626291610148
HP:0000135HP:0000026Male hypogonadism1BBS10 CL E G H79738110ORPHA175626291610148
HP:0000135HP:0000026Male hypogonadism1BBS10 CL E G H79738615987Bardet-Biedl syndrome 10615987C1859568OMIM175626291610148
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BBS10 CL E G H79738615987Bardet-Biedl syndrome 10615987C1859568OMIM175626291610148
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BBS10 CL E G H79738615987Bardet-Biedl syndrome 10615987C1859568OMIM175626291610148
HP:0000135HP:0000134Female hypogonadism1BBS10 CL E G H79738615987Bardet-Biedl syndrome 10615987C1859568OMIM175626291610148
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BBS12 CL E G H166379110ORPHA163426648610683
HP:0000135HP:0000134Female hypogonadism1BBS12 CL E G H166379110ORPHA163426648610683
HP:0000135HP:0000026Male hypogonadism1BBS12 CL E G H166379110ORPHA163426648610683
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BBS12 CL E G H166379110ORPHA163426648610683
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BBS12 CL E G H166379615989Bardet-Biedl syndrome 12615989C1859570OMIM163426648610683
HP:0000135HP:0000134Female hypogonadism1BBS12 CL E G H166379615989Bardet-Biedl syndrome 12615989C1859570OMIM163426648610683
HP:0000135HP:0000026Male hypogonadism1BBS12 CL E G H166379615989Bardet-Biedl syndrome 12615989C1859570OMIM163426648610683
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BBS12 CL E G H166379615989Bardet-Biedl syndrome 12615989C1859570OMIM163426648610683
HP:0000135HP:0000134Female hypogonadism1BBS2 CL E G H583110ORPHA1894967606151
HP:0000135HP:0000026Male hypogonadism1BBS2 CL E G H583110ORPHA1894967606151
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BBS2 CL E G H583110ORPHA1894967606151
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BBS2 CL E G H583110ORPHA1894967606151
HP:0000135HP:0000134Female hypogonadism1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000135HP:0000026Male hypogonadism1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BBS2 CL E G H583791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1894967606151
HP:0000135HP:0000026Male hypogonadism1BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1894967606151
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1894967606151
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1894967606151
HP:0000135HP:0000134Female hypogonadism1BBS2 CL E G H583615981Bardet-Biedl syndrome 2615981C2936863OMIM1894967606151
HP:0000135HP:0000026Male hypogonadism1BBS4 CL E G H585110ORPHA1563969600374
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BBS4 CL E G H585110ORPHA1563969600374
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BBS4 CL E G H585110ORPHA1563969600374
HP:0000135HP:0000134Female hypogonadism1BBS4 CL E G H585110ORPHA1563969600374
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM1563969600374
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM1563969600374
HP:0000135HP:0000134Female hypogonadism1BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM1563969600374
HP:0000135HP:0000026Male hypogonadism1BBS4 CL E G H585615982Bardet-Biedl syndrome 4615982C2936864OMIM1563969600374
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BBS5 CL E G H129880110ORPHA1288970603650
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BBS5 CL E G H129880110ORPHA1288970603650
HP:0000135HP:0000134Female hypogonadism1BBS5 CL E G H129880110ORPHA1288970603650
HP:0000135HP:0000026Male hypogonadism1BBS5 CL E G H129880110ORPHA1288970603650
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM1288970603650
HP:0000135HP:0000134Female hypogonadism1BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM1288970603650
HP:0000135HP:0000026Male hypogonadism1BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM1288970603650
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BBS5 CL E G H129880615983Bardet-Biedl syndrome 5615983C3892039OMIM1288970603650
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BBS7 CL E G H55212110ORPHA150618758607590
HP:0000135HP:0000134Female hypogonadism1BBS7 CL E G H55212110ORPHA150618758607590
HP:0000135HP:0000026Male hypogonadism1BBS7 CL E G H55212110ORPHA150618758607590
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BBS7 CL E G H55212110ORPHA150618758607590
HP:0000135HP:0000134Female hypogonadism1BBS9 CL E G H27241110ORPHA177530000607968
HP:0000135HP:0000026Male hypogonadism1BBS9 CL E G H27241110ORPHA177530000607968
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BBS9 CL E G H27241110ORPHA177530000607968
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BBS9 CL E G H27241110ORPHA177530000607968
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000135HP:0000134Female hypogonadism1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000135HP:0000026Male hypogonadism1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BCS1L CL E G H617262000Pili torti-deafness syndrome262000C0266006OMIM14131020603647
HP:0000135HP:0000026Male hypogonadism1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000135HP:0000134Female hypogonadism1BEST1 CL E G H7439791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA179312703607854
HP:0000135HP:0000026Male hypogonadism1C8orf37 CL E G H157657110ORPHA127232614477
HP:0000135HP:0000044Hypogonadotropic hypogonadism1C8orf37 CL E G H157657110ORPHA127232614477
HP:0000135HP:0000815Hypergonadotropic hypogonadism1C8orf37 CL E G H157657110ORPHA127232614477
HP:0000135HP:0000134Female hypogonadism1C8orf37 CL E G H157657110ORPHA127232614477
HP:0000135HP:0000044Hypogonadotropic hypogonadism1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000135HP:0000815Hypergonadotropic hypogonadism1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000135HP:0000134Female hypogonadism1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000135HP:0000026Male hypogonadism1C8orf37 CL E G H157657791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA127232614477
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000135HP:0000134Female hypogonadism1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000135HP:0000026Male hypogonadism1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CA4 CL E G H762791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12831375114760
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0000135HP:0000134Female hypogonadism1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0000135HP:0000026Male hypogonadism1CAMKMT CL E G H79823163693ORPHA15326276609559
HP:0000135HP:0000134Female hypogonadism1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000135HP:0000026Male hypogonadism1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CDHR1 CL E G H92211791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA189014550609502
HP:0000135HP:0000026Male hypogonadism1CDKN1C CL E G H102885173ORPHA110681786600856
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CDKN1C CL E G H102885173ORPHA110681786600856
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CDKN1C CL E G H102885173ORPHA110681786600856
HP:0000135HP:0000134Female hypogonadism1CDKN1C CL E G H102885173ORPHA110681786600856
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CEP290 CL E G H80184110ORPHA1294429021610142
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CEP290 CL E G H80184110ORPHA1294429021610142
HP:0000135HP:0000134Female hypogonadism1CEP290 CL E G H80184110ORPHA1294429021610142
HP:0000135HP:0000026Male hypogonadism1CEP290 CL E G H80184110ORPHA1294429021610142
HP:0000135HP:0000026Male hypogonadism1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000135HP:0000134Female hypogonadism1CERKL CL E G H375298791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178221699608381
HP:0000135HP:0000026Male hypogonadism1CHRNG CL E G H11462990ORPHA12571967100730
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CHRNG CL E G H11462990ORPHA12571967100730
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CHRNG CL E G H11462990ORPHA12571967100730
HP:0000135HP:0000134Female hypogonadism1CHRNG CL E G H11462990ORPHA12571967100730
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000135HP:0000134Female hypogonadism1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000135HP:0000026Male hypogonadism1CLRN1 CL E G H7401791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA135812605606397
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM12413164116955
HP:0000135HP:0000134Female hypogonadism1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM12413164116955
HP:0000135HP:0000026Male hypogonadism1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM12413164116955
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CNBP CL E G H7555602668Myotonic dystrophy type 2602668C2931689OMIM12413164116955
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000135HP:0000134Female hypogonadism1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000135HP:0000026Male hypogonadism1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CNGA1 CL E G H1259791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14562148123825
HP:0000135HP:0000134Female hypogonadism1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000135HP:0000026Male hypogonadism1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CNGB1 CL E G H1258791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111792151600724
HP:0000135HP:0000026Male hypogonadism1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000135HP:0000134Female hypogonadism1CRB1 CL E G H23418791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA116332343604210
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000135HP:0000134Female hypogonadism1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000135HP:0000026Male hypogonadism1CRX CL E G H1406791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14992383602225
HP:0000135HP:0000134Female hypogonadism1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM14152555300304
HP:0000135HP:0000026Male hypogonadism1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM14152555300304
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM14152555300304
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM14152555300304
HP:0000135HP:0000026Male hypogonadism1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000135HP:0000815Hypergonadotropic hypogonadism1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000135HP:0000134Female hypogonadism1DDB2 CL E G H1643910Blepharoptosis aortic anomalyORPHA11422718600811
HP:0000135HP:0000815Hypergonadotropic hypogonadism1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000135HP:0000134Female hypogonadism1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000135HP:0000026Male hypogonadism1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DHDDS CL E G H79947791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143420603608172
HP:0000135HP:0000134Female hypogonadism1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000135HP:0000026Male hypogonadism1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000135HP:0000815Hypergonadotropic hypogonadism1DHX38 CL E G H9785791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA176417211605584
HP:0000135HP:0000815Hypergonadotropic hypogonadism1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0000135HP:0000134Female hypogonadism1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0000135HP:0000026Male hypogonadism1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DMPK CL E G H1760160900Steinert myotonic dystrophy syndrome160900C3250443OMIM12732933605377
HP:0000135HP:0000134Female hypogonadism1DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0000135HP:0000026Male hypogonadism1DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0000135HP:0000044Hypogonadotropic hypogonadism1DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0000135HP:0000815Hypergonadotropic hypogonadism1DMXL2 CL E G H23312616113Polyendocrine-polyneuropathy syndrome616113C4015261OMIM112162938612186
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000135HP:0000134Female hypogonadism1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000135HP:0000026Male hypogonadism1ERCC1 CL E G H20671466ORPHA11613433126380
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000135HP:0000134Female hypogonadism1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000135HP:0000026Male hypogonadism1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ERCC2 CL E G H20681466ORPHA115723434126340
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000135HP:0000134Female hypogonadism1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000135HP:0000026Male hypogonadism1ERCC2 CL E G H2068910Blepharoptosis aortic anomalyORPHA115723434126340
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM115723434126340
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM115723434126340
HP:0000135HP:0000134Female hypogonadism1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM115723434126340
HP:0000135HP:0000026Male hypogonadism1ERCC2 CL E G H2068601675Trichothiodystrophy 1, photosensitive601675C1866504OMIM115723434126340
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000135HP:0000134Female hypogonadism1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000135HP:0000026Male hypogonadism1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ERCC3 CL E G H2071910Blepharoptosis aortic anomalyORPHA15233435133510
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000135HP:0000134Female hypogonadism1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000135HP:0000026Male hypogonadism1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ERCC3 CL E G H2071610651Xeroderma pigmentosum, complementation group b610651C1970808OMIM15233435133510
HP:0000135HP:0000134Female hypogonadism1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000135HP:0000026Male hypogonadism1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ERCC4 CL E G H2072910Blepharoptosis aortic anomalyORPHA17263436133520
HP:0000135HP:0000134Female hypogonadism1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000135HP:0000026Male hypogonadism1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ERCC5 CL E G H20731466ORPHA14913437133530
HP:0000135HP:0000026Male hypogonadism1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000135HP:0000134Female hypogonadism1ERCC5 CL E G H2073910Blepharoptosis aortic anomalyORPHA14913437133530
HP:0000135HP:0000026Male hypogonadism1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000135HP:0000134Female hypogonadism1ERCC6 CL E G H20741466ORPHA116453438609413
HP:0000135HP:0000026Male hypogonadism1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000135HP:0000134Female hypogonadism1ERCC8 CL E G H1161216400Cockayne syndrome type A216400C0751039OMIM14843439609412
HP:0000135HP:0000026Male hypogonadism1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000135HP:0000044Hypogonadotropic hypogonadism1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000135HP:0000815Hypergonadotropic hypogonadism1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000135HP:0000134Female hypogonadism1EYS CL E G H346007791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1383021555612424
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000135HP:0000134Female hypogonadism1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000135HP:0000026Male hypogonadism1FAM161A CL E G H84140791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA169925808613596
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FEZF1 CL E G H389549616030Hypogonadotropic hypogonadism 22 with or without anosmia616030C4014988OMIM110922788613301
HP:0000135HP:0000134Female hypogonadism1FEZF1 CL E G H389549616030Hypogonadotropic hypogonadism 22 with or without anosmia616030C4014988OMIM110922788613301
HP:0000135HP:0000026Male hypogonadism1FEZF1 CL E G H389549616030Hypogonadotropic hypogonadism 22 with or without anosmia616030C4014988OMIM110922788613301
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FEZF1 CL E G H389549616030Hypogonadotropic hypogonadism 22 with or without anosmia616030C4014988OMIM110922788613301
HP:0000135HP:0000134Female hypogonadism1FGF17 CL E G H8822615270Hypogonadotropic hypogonadism 20 with or without anosmia615270C3808983OMIM11193673603725
HP:0000135HP:0000026Male hypogonadism1FGF17 CL E G H8822615270Hypogonadotropic hypogonadism 20 with or without anosmia615270C3808983OMIM11193673603725
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FGF17 CL E G H8822615270Hypogonadotropic hypogonadism 20 with or without anosmia615270C3808983OMIM11193673603725
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FGF17 CL E G H8822615270Hypogonadotropic hypogonadism 20 with or without anosmia615270C3808983OMIM11193673603725
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FMR1 CL E G H2332261483ORPHA13713775309550
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FMR1 CL E G H2332261483ORPHA13713775309550
HP:0000135HP:0000134Female hypogonadism1FMR1 CL E G H2332261483ORPHA13713775309550
HP:0000135HP:0000026Male hypogonadism1FMR1 CL E G H2332261483ORPHA13713775309550
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000135HP:0000134Female hypogonadism1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000135HP:0000026Male hypogonadism1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FSCN2 CL E G H25794791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15803960607643
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FSHB CL E G H2488229070Follicle-stimulating hormone deficiency, isolated229070C1856716OMIM1713964136530
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FSHB CL E G H2488229070Follicle-stimulating hormone deficiency, isolated229070C1856716OMIM1713964136530
HP:0000135HP:0000134Female hypogonadism1FSHB CL E G H2488229070Follicle-stimulating hormone deficiency, isolated229070C1856716OMIM1713964136530
HP:0000135HP:0000026Male hypogonadism1FSHB CL E G H2488229070Follicle-stimulating hormone deficiency, isolated229070C1856716OMIM1713964136530
HP:0000135HP:0000134Female hypogonadism1GLI2 CL E G H2736615849Culler-Jones syndrome615849C4014479OMIM18324318165230
HP:0000135HP:0000026Male hypogonadism1GLI2 CL E G H2736615849Culler-Jones syndrome615849C4014479OMIM18324318165230
HP:0000135HP:0000044Hypogonadotropic hypogonadism1GLI2 CL E G H2736615849Culler-Jones syndrome615849C4014479OMIM18324318165230
HP:0000135HP:0000815Hypergonadotropic hypogonadism1GLI2 CL E G H2736615849Culler-Jones syndrome615849C4014479OMIM18324318165230
HP:0000135HP:0000044Hypogonadotropic hypogonadism1GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM16444392139320
HP:0000135HP:0000815Hypergonadotropic hypogonadism1GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM16444392139320
HP:0000135HP:0000134Female hypogonadism1GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM16444392139320
HP:0000135HP:0000026Male hypogonadism1GNAS CL E G H2778103580Pseudohypoparathyroidism103580C0033806OMIM16444392139320
HP:0000135HP:0000026Male hypogonadism1GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM16444392139320
HP:0000135HP:0000044Hypogonadotropic hypogonadism1GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM16444392139320
HP:0000135HP:0000815Hypergonadotropic hypogonadism1GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM16444392139320
HP:0000135HP:0000134Female hypogonadism1GNAS CL E G H2778612462Pseudohypoparathyroidism type 1C612462C2932716OMIM16444392139320
HP:0000135HP:0000134Female hypogonadism1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000135HP:0000026Male hypogonadism1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000135HP:0000044Hypogonadotropic hypogonadism1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000135HP:0000815Hypergonadotropic hypogonadism1GUCA1B CL E G H2979791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12154679602275
HP:0000135HP:0000134Female hypogonadism1HAMP CL E G H5781779230ORPHA16715598606464
HP:0000135HP:0000026Male hypogonadism1HAMP CL E G H5781779230ORPHA16715598606464
HP:0000135HP:0000044Hypogonadotropic hypogonadism1HAMP CL E G H5781779230ORPHA16715598606464
HP:0000135HP:0000815Hypergonadotropic hypogonadism1HAMP CL E G H5781779230ORPHA16715598606464
HP:0000135HP:0000815Hypergonadotropic hypogonadism1HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM16715598606464
HP:0000135HP:0000134Female hypogonadism1HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM16715598606464
HP:0000135HP:0000026Male hypogonadism1HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM16715598606464
HP:0000135HP:0000044Hypogonadotropic hypogonadism1HAMP CL E G H57817613313Hemochromatosis type 2B613313C1865616OMIM16715598606464
HP:0000135HP:0000026Male hypogonadism1HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM138113315300269
HP:0000135HP:0000044Hypogonadotropic hypogonadism1HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM138113315300269
HP:0000135HP:0000815Hypergonadotropic hypogonadism1HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM138113315300269
HP:0000135HP:0000134Female hypogonadism1HDAC8 CL E G H55869300882Cornelia de Lange syndrome 5300882C3550903OMIM138113315300269
HP:0000135HP:0000134Female hypogonadism1HFE CL E G H3077465508ORPHA12374886613609
HP:0000135HP:0000026Male hypogonadism1HFE CL E G H3077465508ORPHA12374886613609
HP:0000135HP:0000044Hypogonadotropic hypogonadism1HFE CL E G H3077465508ORPHA12374886613609
HP:0000135HP:0000815Hypergonadotropic hypogonadism1HFE CL E G H3077465508ORPHA12374886613609
HP:0000135HP:0000026Male hypogonadism1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000135HP:0000044Hypogonadotropic hypogonadism1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000135HP:0000815Hypergonadotropic hypogonadism1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000135HP:0000134Female hypogonadism1HGSNAT CL E G H138050791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1104926527610453
HP:0000135HP:0000026Male hypogonadism1HJV CL E G H14873879230ORPHA14704887608374
HP:0000135HP:0000044Hypogonadotropic hypogonadism1HJV CL E G H14873879230ORPHA14704887608374
HP:0000135HP:0000815Hypergonadotropic hypogonadism1HJV CL E G H14873879230ORPHA14704887608374
HP:0000135HP:0000134Female hypogonadism1HJV CL E G H14873879230ORPHA14704887608374
HP:0000135HP:0000044Hypogonadotropic hypogonadism1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000135HP:0000815Hypergonadotropic hypogonadism1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000135HP:0000134Female hypogonadism1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000135HP:0000026Male hypogonadism1IDH3B CL E G H3420791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12995385604526
HP:0000135HP:0000815Hypergonadotropic hypogonadism1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000135HP:0000134Female hypogonadism1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000135HP:0000026Male hypogonadism1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000135HP:0000044Hypogonadotropic hypogonadism1IFT140 CL E G H9742791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1168629077614620
HP:0000135HP:0000815Hypergonadotropic hypogonadism1IFT172 CL E G H26160110ORPHA1135630391607386
HP:0000135HP:0000134Female hypogonadism1IFT172 CL E G H26160110ORPHA1135630391607386
HP:0000135HP:0000026Male hypogonadism1IFT172 CL E G H26160110ORPHA1135630391607386
HP:0000135HP:0000044Hypogonadotropic hypogonadism1IFT172 CL E G H26160110ORPHA1135630391607386
HP:0000135HP:0000134Female hypogonadism1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000135HP:0000026Male hypogonadism1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000135HP:0000044Hypogonadotropic hypogonadism1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000135HP:0000815Hypergonadotropic hypogonadism1IFT172 CL E G H26160791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1135630391607386
HP:0000135HP:0000134Female hypogonadism1IFT27 CL E G H11020110ORPHA116118626615870
HP:0000135HP:0000026Male hypogonadism1IFT27 CL E G H11020110ORPHA116118626615870
HP:0000135HP:0000044Hypogonadotropic hypogonadism1IFT27 CL E G H11020110ORPHA116118626615870
HP:0000135HP:0000815Hypergonadotropic hypogonadism1IFT27 CL E G H11020110ORPHA116118626615870
HP:0000135HP:0000044Hypogonadotropic hypogonadism1IFT27 CL E G H11020615996Bardet-Biedl syndrome 19615996C3889475OMIM116118626615870
HP:0000135HP:0000815Hypergonadotropic hypogonadism1IFT27 CL E G H11020615996Bardet-Biedl syndrome 19615996C3889475OMIM116118626615870
HP:0000135HP:0000134Female hypogonadism1IFT27 CL E G H11020615996Bardet-Biedl syndrome 19615996C3889475OMIM116118626615870
HP:0000135HP:0000026Male hypogonadism1IFT27 CL E G H11020615996Bardet-Biedl syndrome 19615996C3889475OMIM116118626615870
HP:0000135HP:0000044Hypogonadotropic hypogonadism1IFT74 CL E G H80173617119Bardet-Biedl syndrome 20617119C4310707OMIM152321424608040
HP:0000135HP:0000815Hypergonadotropic hypogonadism1IFT74 CL E G H80173617119Bardet-Biedl syndrome 20617119C4310707OMIM152321424608040
HP:0000135HP:0000134Female hypogonadism1IFT74 CL E G H80173617119Bardet-Biedl syndrome 20617119C4310707OMIM152321424608040
HP:0000135HP:0000026Male hypogonadism1IFT74 CL E G H80173617119Bardet-Biedl syndrome 20617119C4310707OMIM152321424608040
HP:0000135HP:0000026Male hypogonadism1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000135HP:0000044Hypogonadotropic hypogonadism1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000135HP:0000815Hypergonadotropic hypogonadism1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000135HP:0000134Female hypogonadism1IFT88 CL E G H8100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA139020606600595
HP:0000135HP:0000815Hypergonadotropic hypogonadism1IGF1 CL E G H347973272ORPHA11975464147440
HP:0000135HP:0000134Female hypogonadism1IGF1 CL E G H347973272ORPHA11975464147440
HP:0000135HP:0000026Male hypogonadism1IGF1 CL E G H347973272ORPHA11975464147440
HP:0000135HP:0000044Hypogonadotropic hypogonadism1IGF1 CL E G H347973272ORPHA11975464147440
HP:0000135HP:0000815Hypergonadotropic hypogonadism1IL17RD CL E G H54756615267Hypogonadotropic hypogonadism 18 with or without anosmia615267C3808975OMIM116317616606807
HP:0000135HP:0000134Female hypogonadism1IL17RD CL E G H54756615267Hypogonadotropic hypogonadism 18 with or without anosmia615267C3808975OMIM116317616606807
HP:0000135HP:0000026Male hypogonadism1IL17RD CL E G H54756615267Hypogonadotropic hypogonadism 18 with or without anosmia615267C3808975OMIM116317616606807
HP:0000135HP:0000044Hypogonadotropic hypogonadism1IL17RD CL E G H54756615267Hypogonadotropic hypogonadism 18 with or without anosmia615267C3808975OMIM116317616606807
HP:0000135HP:0000044Hypogonadotropic hypogonadism1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000135HP:0000815Hypergonadotropic hypogonadism1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000135HP:0000134Female hypogonadism1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000135HP:0000026Male hypogonadism1IMPDH1 CL E G H3614791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA15426052146690
HP:0000135HP:0000815Hypergonadotropic hypogonadism1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000135HP:0000134Female hypogonadism1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000135HP:0000026Male hypogonadism1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000135HP:0000044Hypogonadotropic hypogonadism1IMPG2 CL E G H50939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA190918362607056
HP:0000135HP:0000044Hypogonadotropic hypogonadism1INPP5K CL E G H51763559ORPHA118733882607875
HP:0000135HP:0000815Hypergonadotropic hypogonadism1INPP5K CL E G H51763559ORPHA118733882607875
HP:0000135HP:0000134Female hypogonadism1INPP5K CL E G H51763559ORPHA118733882607875
HP:0000135HP:0000026Male hypogonadism1INPP5K CL E G H51763559ORPHA118733882607875
HP:0000135HP:0000134Female hypogonadism1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000135HP:0000026Male hypogonadism1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000135HP:0000044Hypogonadotropic hypogonadism1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000135HP:0000815Hypergonadotropic hypogonadism1KIAA1549 CL E G H57670791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1132722219613344
HP:0000135HP:0000026Male hypogonadism1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000135HP:0000044Hypogonadotropic hypogonadism1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000135HP:0000815Hypergonadotropic hypogonadism1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000135HP:0000134Female hypogonadism1KIZ CL E G H55857791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA141615865615757
HP:0000135HP:0000044Hypogonadotropic hypogonadism1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000135HP:0000815Hypergonadotropic hypogonadism1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000135HP:0000134Female hypogonadism1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000135HP:0000026Male hypogonadism1KLHL7 CL E G H55975791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA133715646611119
HP:0000135HP:0000134Female hypogonadism1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0000135HP:0000026Male hypogonadism1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0000135HP:0000044Hypogonadotropic hypogonadism1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0000135HP:0000815Hypergonadotropic hypogonadism1LAS1L CL E G H81887309585Wilson-Turner X-linked mental retardation syndrome309585C1839736OMIM128325726300964
HP:0000135HP:0000026Male hypogonadism1LEP CL E G H3952614962Leptin deficiency or dysfunction614962C3554224OMIM11296553164160
HP:0000135HP:0000044Hypogonadotropic hypogonadism1LEP CL E G H3952614962Leptin deficiency or dysfunction614962C3554224OMIM11296553164160
HP:0000135HP:0000815Hypergonadotropic hypogonadism1LEP CL E G H3952614962Leptin deficiency or dysfunction614962C3554224OMIM11296553164160
HP:0000135HP:0000134Female hypogonadism1LEP CL E G H3952614962Leptin deficiency or dysfunction614962C3554224OMIM11296553164160
HP:0000135HP:0000134Female hypogonadism1LMNA CL E G H400079474ORPHA118146636150330
HP:0000135HP:0000026Male hypogonadism1LMNA CL E G H400079474ORPHA118146636150330
HP:0000135HP:0000044Hypogonadotropic hypogonadism1LMNA CL E G H400079474ORPHA118146636150330
HP:0000135HP:0000815Hypergonadotropic hypogonadism1LMNA CL E G H400079474ORPHA118146636150330
HP:0000135HP:0000815Hypergonadotropic hypogonadism1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000135HP:0000134Female hypogonadism1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000135HP:0000026Male hypogonadism1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000135HP:0000044Hypogonadotropic hypogonadism1LRAT CL E G H9227791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12426685604863
HP:0000135HP:0000026Male hypogonadism1LZTFL1 CL E G H54585110ORPHA11626741606568
HP:0000135HP:0000044Hypogonadotropic hypogonadism1LZTFL1 CL E G H54585110ORPHA11626741606568
HP:0000135HP:0000815Hypergonadotropic hypogonadism1LZTFL1 CL E G H54585110ORPHA11626741606568
HP:0000135HP:0000134Female hypogonadism1LZTFL1 CL E G H54585110ORPHA11626741606568
HP:0000135HP:0000026Male hypogonadism1LZTFL1 CL E G H54585615994Bardet-Biedl syndrome 17615994C3714980OMIM11626741606568
HP:0000135HP:0000044Hypogonadotropic hypogonadism1LZTFL1 CL E G H54585615994Bardet-Biedl syndrome 17615994C3714980OMIM11626741606568
HP:0000135HP:0000815Hypergonadotropic hypogonadism1LZTFL1 CL E G H54585615994Bardet-Biedl syndrome 17615994C3714980OMIM11626741606568
HP:0000135HP:0000134Female hypogonadism1LZTFL1 CL E G H54585615994Bardet-Biedl syndrome 17615994C3714980OMIM11626741606568
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM110136814605283
HP:0000135HP:0000815Hypergonadotropic hypogonadism1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM110136814605283
HP:0000135HP:0000134Female hypogonadism1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM110136814605283
HP:0000135HP:0000026Male hypogonadism1MAGEL2 CL E G H54551615547Schaaf-yang syndrome615547C3809877OMIM110136814605283
HP:0000135HP:0000134Female hypogonadism1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000135HP:0000026Male hypogonadism1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000135HP:0000815Hypergonadotropic hypogonadism1MAK CL E G H4117791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA14456816154235
HP:0000135HP:0000026Male hypogonadism1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000135HP:0000815Hypergonadotropic hypogonadism1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000135HP:0000134Female hypogonadism1MERTK CL E G H10461791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18157027604705
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MKKS CL E G H8195110ORPHA14327108604896
HP:0000135HP:0000815Hypergonadotropic hypogonadism1MKKS CL E G H8195110ORPHA14327108604896
HP:0000135HP:0000134Female hypogonadism1MKKS CL E G H8195110ORPHA14327108604896
HP:0000135HP:0000026Male hypogonadism1MKKS CL E G H8195110ORPHA14327108604896
HP:0000135HP:0000815Hypergonadotropic hypogonadism1MKS1 CL E G H54903110ORPHA18397121609883
HP:0000135HP:0000134Female hypogonadism1MKS1 CL E G H54903110ORPHA18397121609883
HP:0000135HP:0000026Male hypogonadism1MKS1 CL E G H54903110ORPHA18397121609883
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MKS1 CL E G H54903110ORPHA18397121609883
HP:0000135HP:0000134Female hypogonadism1MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0000135HP:0000026Male hypogonadism1MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0000135HP:0000815Hypergonadotropic hypogonadism1MRPS7 CL E G H51081617872COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34617872CN807947OMIM19314499611974
HP:0000135HP:0000026Male hypogonadism1NECTIN1 CL E G H58183253Limb dystoniaORPHA12339706600644
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NECTIN1 CL E G H58183253Limb dystoniaORPHA12339706600644
HP:0000135HP:0000815Hypergonadotropic hypogonadism1NECTIN1 CL E G H58183253Limb dystoniaORPHA12339706600644
HP:0000135HP:0000134Female hypogonadism1NECTIN1 CL E G H58183253Limb dystoniaORPHA12339706600644
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000135HP:0000815Hypergonadotropic hypogonadism1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000135HP:0000134Female hypogonadism1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000135HP:0000026Male hypogonadism1NEK2 CL E G H4751791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12167745604043
HP:0000135HP:0000815Hypergonadotropic hypogonadism1NPHP1 CL E G H4867110ORPHA18157905607100
HP:0000135HP:0000134Female hypogonadism1NPHP1 CL E G H4867110ORPHA18157905607100
HP:0000135HP:0000026Male hypogonadism1NPHP1 CL E G H4867110ORPHA18157905607100
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NPHP1 CL E G H4867110ORPHA18157905607100
HP:0000135HP:0000815Hypergonadotropic hypogonadism1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000135HP:0000134Female hypogonadism1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000135HP:0000026Male hypogonadism1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NR2E3 CL E G H10002791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA16077974604485
HP:0000135HP:0000134Female hypogonadism1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000135HP:0000026Male hypogonadism1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000135HP:0000044Hypogonadotropic hypogonadism1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000135HP:0000815Hypergonadotropic hypogonadism1NRL CL E G H4901791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA13588002162080
HP:0000135HP:0000026Male hypogonadism1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000135HP:0000044Hypogonadotropic hypogonadism1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000135HP:0000815Hypergonadotropic hypogonadism1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000135HP:0000134Female hypogonadism1OFD1 CL E G H8481791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110202567300170
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000135HP:0000134Female hypogonadism1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000135HP:0000026Male hypogonadism1PCARE CL E G H388939791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1102234383613425
HP:0000135HP:0000134Female hypogonadism1PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12038773604961
HP:0000135HP:0000026Male hypogonadism1PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12038773604961
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12038773604961
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PDE11A CL E G H50940189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12038773604961
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000135HP:0000134Female hypogonadism1PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000135HP:0000026Male hypogonadism1PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PDE4D CL E G H5144280651ORPHA14758783600129
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000135HP:0000134Female hypogonadism1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000135HP:0000026Male hypogonadism1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PDE6A CL E G H5145791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA18348785180071
HP:0000135HP:0000134Female hypogonadism1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000135HP:0000026Male hypogonadism1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PDE6B CL E G H5158791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA111428786180072
HP:0000135HP:0000026Male hypogonadism1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000135HP:0000134Female hypogonadism1PDE6G CL E G H5148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA11258789180073
HP:0000135HP:0000026Male hypogonadism1PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12438794603390
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12438794603390
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12438794603390
HP:0000135HP:0000134Female hypogonadism1PDE8B CL E G H8622189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA12438794603390
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000135HP:0000134Female hypogonadism1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000135HP:0000026Male hypogonadism1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PEX1 CL E G H51893220ORPHA115378850602136
HP:0000135HP:0000134Female hypogonadism1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000135HP:0000026Male hypogonadism1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PEX6 CL E G H51903220ORPHA114588859601498
HP:0000135HP:0000026Male hypogonadism1PHF6 CL E G H84295127ORPHA132218145300414
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PHF6 CL E G H84295127ORPHA132218145300414
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PHF6 CL E G H84295127ORPHA132218145300414
HP:0000135HP:0000134Female hypogonadism1PHF6 CL E G H84295127ORPHA132218145300414
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA16948923606879
HP:0000135HP:0000134Female hypogonadism1PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA16948923606879
HP:0000135HP:0000026Male hypogonadism1PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA16948923606879
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PHGDH CL E G H262272671Herrmann Opitz craniosynostosisORPHA16948923606879
HP:0000135HP:0000026Male hypogonadism1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000135HP:0000044Hypogonadotropic hypogonadism1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000135HP:0000815Hypergonadotropic hypogonadism1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000135HP:0000134Female hypogonadism1POLD1 CL E G H5424615381Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome615381C3715192OMIM143789175174761
HP:0000135HP:0000044Hypogonadotropic hypogonadism1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000135HP:0000815Hypergonadotropic hypogonadism1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000135HP:0000134Female hypogonadism1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000135HP:0000026Male hypogonadism1POMGNT1 CL E G H55624791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1117419139606822
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0000135HP:0000134Female hypogonadism1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0000135HP:0000026Male hypogonadism1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PPM1B CL E G H5495163693ORPHA1459276603770
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000135HP:0000134Female hypogonadism1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000135HP:0000026Male hypogonadism1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PRCD CL E G H768206791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA114432528610598
HP:0000135HP:0000134Female hypogonadism1PREPL CL E G H9581163693ORPHA170830228609557
HP:0000135HP:0000026Male hypogonadism1PREPL CL E G H9581163693ORPHA170830228609557
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PREPL CL E G H9581163693ORPHA170830228609557
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PREPL CL E G H9581163693ORPHA170830228609557
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1439380601639
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1439380601639
HP:0000135HP:0000134Female hypogonadism1PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1439380601639
HP:0000135HP:0000026Male hypogonadism1PRKACA CL E G H5566189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA1439380601639
HP:0000135HP:0000134Female hypogonadism1PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000135HP:0000026Male hypogonadism1PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PRKAR1A CL E G H5573280651ORPHA111319388188830
HP:0000135HP:0000026Male hypogonadism1PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM111319388188830
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM111319388188830
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM111319388188830
HP:0000135HP:0000134Female hypogonadism1PRKAR1A CL E G H5573101800Acrodysostosis 1 with or without hormone resistance101800C3276228OMIM111319388188830
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA111319388188830
HP:0000135HP:0000134Female hypogonadism1PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA111319388188830
HP:0000135HP:0000026Male hypogonadism1PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA111319388188830
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PRKAR1A CL E G H5573189439Primary pigmented nodular adrenocortical diseaseCN200645ORPHA111319388188830
HP:0000135HP:0000134Female hypogonadism1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000135HP:0000026Male hypogonadism1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PROM1 CL E G H8842791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA19289454604365
HP:0000135HP:0000134Female hypogonadism1PROP1 CL E G H5626262600Pituitary hormone deficiency, combined 2262600C0878683OMIM12619455601538
HP:0000135HP:0000026Male hypogonadism1PROP1 CL E G H5626262600Pituitary hormone deficiency, combined 2262600C0878683OMIM12619455601538
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PROP1 CL E G H5626262600Pituitary hormone deficiency, combined 2262600C0878683OMIM12619455601538
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PROP1 CL E G H5626262600Pituitary hormone deficiency, combined 2262600C0878683OMIM12619455601538
HP:0000135HP:0000026Male hypogonadism1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000135HP:0000134Female hypogonadism1PRPF3 CL E G H9129791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA132517348607301
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000135HP:0000134Female hypogonadism1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000135HP:0000026Male hypogonadism1PRPF31 CL E G H26121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA162915446606419
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000135HP:0000134Female hypogonadism1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000135HP:0000026Male hypogonadism1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PRPF4 CL E G H9128791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA130517349607795
HP:0000135HP:0000134Female hypogonadism1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000135HP:0000026Male hypogonadism1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PRPF6 CL E G H24148791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158115860613979
HP:0000135HP:0000026Male hypogonadism1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000135HP:0000134Female hypogonadism1PRPF8 CL E G H10594791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1124017340607300
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000135HP:0000134Female hypogonadism1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000135HP:0000026Male hypogonadism1PRPH2 CL E G H5961791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA17029942179605
HP:0000135HP:0000134Female hypogonadism1PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA149819129610936
HP:0000135HP:0000026Male hypogonadism1PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA149819129610936
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA149819129610936
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PSAT1 CL E G H299682671Herrmann Opitz craniosynostosisORPHA149819129610936
HP:0000135HP:0000134Female hypogonadism1RBM28 CL E G H55131612079Alopecia, neurologic defects, and endocrinopathy syndrome612079C2677535OMIM18121863612074
HP:0000135HP:0000026Male hypogonadism1RBM28 CL E G H55131612079Alopecia, neurologic defects, and endocrinopathy syndrome612079C2677535OMIM18121863612074
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RBM28 CL E G H55131612079Alopecia, neurologic defects, and endocrinopathy syndrome612079C2677535OMIM18121863612074
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RBM28 CL E G H55131612079Alopecia, neurologic defects, and endocrinopathy syndrome612079C2677535OMIM18121863612074
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000135HP:0000134Female hypogonadism1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000135HP:0000026Male hypogonadism1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RBP3 CL E G H5949791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA110389921180290
HP:0000135HP:0000134Female hypogonadism1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000135HP:0000026Male hypogonadism1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RDH12 CL E G H145226791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149519977608830
HP:0000135HP:0000026Male hypogonadism1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM142599949603780
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM142599949603780
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM142599949603780
HP:0000135HP:0000134Female hypogonadism1RECQL4 CL E G H9401268400Rothmund-Thomson syndrome268400C0032339OMIM142599949603780
HP:0000135HP:0000026Male hypogonadism1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000135HP:0000044Hypogonadotropic hypogonadism1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000135HP:0000815Hypergonadotropic hypogonadism1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000135HP:0000134Female hypogonadism1REEP6 CL E G H92840791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA126630078609346
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000135HP:0000134Female hypogonadism1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000135HP:0000026Male hypogonadism1RGR CL E G H5995791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA12799990600342
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000135HP:0000134Female hypogonadism1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000135HP:0000026Male hypogonadism1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RHO CL E G H6010791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153710012180380
HP:0000135HP:0000134Female hypogonadism1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000135HP:0000026Male hypogonadism1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RLBP1 CL E G H6017791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131410024180090
HP:0000135HP:0000026Male hypogonadism1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000135HP:0000134Female hypogonadism1ROM1 CL E G H6094791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA131110254180721
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000135HP:0000134Female hypogonadism1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000135HP:0000026Male hypogonadism1RP1 CL E G H6101791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1131810263603937
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000135HP:0000134Female hypogonadism1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000135HP:0000026Male hypogonadism1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RP2 CL E G H6102791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA148410274300757
HP:0000135HP:0000134Female hypogonadism1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000135HP:0000026Male hypogonadism1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RP9 CL E G H6100791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA113210288607331
HP:0000135HP:0000026Male hypogonadism1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000135HP:0000134Female hypogonadism1RPE65 CL E G H6121791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA178310294180069
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000135HP:0000134Female hypogonadism1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000135HP:0000026Male hypogonadism1RPGR CL E G H6103791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1143310295312610
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000135HP:0000134Female hypogonadism1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000135HP:0000026Male hypogonadism1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SAG CL E G H6295791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143010521181031
HP:0000135HP:0000134Female hypogonadism1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000135HP:0000026Male hypogonadism1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SCAPER CL E G H49855791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA115713081611611
HP:0000135HP:0000134Female hypogonadism1SDCCAG8 CL E G H10806110ORPHA165110671613524
HP:0000135HP:0000026Male hypogonadism1SDCCAG8 CL E G H10806110ORPHA165110671613524
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SDCCAG8 CL E G H10806110ORPHA165110671613524
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SDCCAG8 CL E G H10806110ORPHA165110671613524
HP:0000135HP:0000134Female hypogonadism1SDCCAG8 CL E G H10806615993Bardet-Biedl syndrome 16615993C3889474OMIM165110671613524
HP:0000135HP:0000026Male hypogonadism1SDCCAG8 CL E G H10806615993Bardet-Biedl syndrome 16615993C3889474OMIM165110671613524
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SDCCAG8 CL E G H10806615993Bardet-Biedl syndrome 16615993C3889474OMIM165110671613524
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SDCCAG8 CL E G H10806615993Bardet-Biedl syndrome 16615993C3889474OMIM165110671613524
HP:0000135HP:0000026Male hypogonadism1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000135HP:0000134Female hypogonadism1SEMA4A CL E G H64218791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA153010729607292
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0000135HP:0000134Female hypogonadism1SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0000135HP:0000026Male hypogonadism1SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SGPL1 CL E G H8879617575Nephrotic syndrome type 14617575C4539778OMIM121810817603729
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SIL1 CL E G H64374559ORPHA135224624608005
HP:0000135HP:0000134Female hypogonadism1SIL1 CL E G H64374559ORPHA135224624608005
HP:0000135HP:0000026Male hypogonadism1SIL1 CL E G H64374559ORPHA135224624608005
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SIL1 CL E G H64374559ORPHA135224624608005
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SIN3A CL E G H2594294065ORPHA140019353607776
HP:0000135HP:0000134Female hypogonadism1SIN3A CL E G H2594294065ORPHA140019353607776
HP:0000135HP:0000026Male hypogonadism1SIN3A CL E G H2594294065ORPHA140019353607776
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SIN3A CL E G H2594294065ORPHA140019353607776
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM173617129607059
HP:0000135HP:0000134Female hypogonadism1SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM173617129607059
HP:0000135HP:0000026Male hypogonadism1SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM173617129607059
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SLC39A4 CL E G H55630201100Hereditary acrodermatitis enteropathica201100C0221036OMIM173617129607059
HP:0000135HP:0000026Male hypogonadism1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0000135HP:0000134Female hypogonadism1SLC3A1 CL E G H6519163693ORPHA142911025104614
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000135HP:0000134Female hypogonadism1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000135HP:0000026Male hypogonadism1SLC7A14 CL E G H57709791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA146129326615720
HP:0000135HP:0000134Female hypogonadism1SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM1134129090614982
HP:0000135HP:0000026Male hypogonadism1SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM1134129090614982
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM1134129090614982
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SMCHD1 CL E G H23347603457Arhinia choanal atresia microphthalmia603457C1863878OMIM1134129090614982
HP:0000135HP:0000134Female hypogonadism1SMCHD1 CL E G H233472250Familial band heterotopiaORPHA1134129090614982
HP:0000135HP:0000026Male hypogonadism1SMCHD1 CL E G H233472250Familial band heterotopiaORPHA1134129090614982
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SMCHD1 CL E G H233472250Familial band heterotopiaORPHA1134129090614982
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SMCHD1 CL E G H233472250Familial band heterotopiaORPHA1134129090614982
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000135HP:0000134Female hypogonadism1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000135HP:0000026Male hypogonadism1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SNRNP200 CL E G H23020791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1107330859601664
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000135HP:0000134Female hypogonadism1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000135HP:0000026Male hypogonadism1SOX10 CL E G H6663163746ORPHA137811190602229
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000135HP:0000134Female hypogonadism1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000135HP:0000026Male hypogonadism1SOX10 CL E G H6663613266Waardenburg syndrome type 4C613266C2750452OMIM137811190602229
HP:0000135HP:0000134Female hypogonadism1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000135HP:0000026Male hypogonadism1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SPATA7 CL E G H55812791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA143220423609868
HP:0000135HP:0000044Hypogonadotropic hypogonadism1STEAP3 CL E G H55240300298ORPHA19424592609671
HP:0000135HP:0000815Hypergonadotropic hypogonadism1STEAP3 CL E G H55240300298ORPHA19424592609671
HP:0000135HP:0000134Female hypogonadism1STEAP3 CL E G H55240300298ORPHA19424592609671
HP:0000135HP:0000026Male hypogonadism1STEAP3 CL E G H55240300298ORPHA19424592609671
HP:0000135HP:0000044Hypogonadotropic hypogonadism1STEAP3 CL E G H55240615234Hypochromic microcytic anemia with iron overload 2615234C3808920OMIM19424592609671
HP:0000135HP:0000815Hypergonadotropic hypogonadism1STEAP3 CL E G H55240615234Hypochromic microcytic anemia with iron overload 2615234C3808920OMIM19424592609671
HP:0000135HP:0000134Female hypogonadism1STEAP3 CL E G H55240615234Hypochromic microcytic anemia with iron overload 2615234C3808920OMIM19424592609671
HP:0000135HP:0000026Male hypogonadism1STEAP3 CL E G H55240615234Hypochromic microcytic anemia with iron overload 2615234C3808920OMIM19424592609671
HP:0000135HP:0000815Hypergonadotropic hypogonadism1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM122611427607207
HP:0000135HP:0000134Female hypogonadism1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM122611427607207
HP:0000135HP:0000026Male hypogonadism1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM122611427607207
HP:0000135HP:0000044Hypogonadotropic hypogonadism1STUB1 CL E G H10273615768Spinocerebellar ataxia, autosomal recessive 16615768C4014261OMIM122611427607207
HP:0000135HP:0000026Male hypogonadism1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000135HP:0000815Hypergonadotropic hypogonadism1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000135HP:0000134Female hypogonadism1TOPORS CL E G H10210791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158321653609507
HP:0000135HP:0000026Male hypogonadism1TRIM32 CL E G H22954110ORPHA162716380602290
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TRIM32 CL E G H22954110ORPHA162716380602290
HP:0000135HP:0000815Hypergonadotropic hypogonadism1TRIM32 CL E G H22954110ORPHA162716380602290
HP:0000135HP:0000134Female hypogonadism1TRIM32 CL E G H22954110ORPHA162716380602290
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TRIM32 CL E G H22954615988Bardet-Biedl syndrome 11615988C1859569OMIM162716380602290
HP:0000135HP:0000815Hypergonadotropic hypogonadism1TRIM32 CL E G H22954615988Bardet-Biedl syndrome 11615988C1859569OMIM162716380602290
HP:0000135HP:0000134Female hypogonadism1TRIM32 CL E G H22954615988Bardet-Biedl syndrome 11615988C1859569OMIM162716380602290
HP:0000135HP:0000026Male hypogonadism1TRIM32 CL E G H22954615988Bardet-Biedl syndrome 11615988C1859569OMIM162716380602290
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TTC8 CL E G H123016110ORPHA142720087608132
HP:0000135HP:0000815Hypergonadotropic hypogonadism1TTC8 CL E G H123016110ORPHA142720087608132
HP:0000135HP:0000134Female hypogonadism1TTC8 CL E G H123016110ORPHA142720087608132
HP:0000135HP:0000026Male hypogonadism1TTC8 CL E G H123016110ORPHA142720087608132
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000135HP:0000815Hypergonadotropic hypogonadism1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000135HP:0000134Female hypogonadism1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000135HP:0000026Male hypogonadism1TTC8 CL E G H123016791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA142720087608132
HP:0000135HP:0000134Female hypogonadism1TTC8 CL E G H123016615985Bardet-Biedl syndrome 8615985C1859566OMIM142720087608132
HP:0000135HP:0000026Male hypogonadism1TTC8 CL E G H123016615985Bardet-Biedl syndrome 8615985C1859566OMIM142720087608132
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TTC8 CL E G H123016615985Bardet-Biedl syndrome 8615985C1859566OMIM142720087608132
HP:0000135HP:0000815Hypergonadotropic hypogonadism1TTC8 CL E G H123016615985Bardet-Biedl syndrome 8615985C1859566OMIM142720087608132
HP:0000135HP:0000815Hypergonadotropic hypogonadism1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000135HP:0000134Female hypogonadism1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000135HP:0000026Male hypogonadism1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TUB CL E G H7275791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA147712406601197
HP:0000135HP:0000134Female hypogonadism1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000135HP:0000026Male hypogonadism1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000135HP:0000815Hypergonadotropic hypogonadism1TULP1 CL E G H7287791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA158712423602280
HP:0000135HP:0000026Male hypogonadism1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000135HP:0000044Hypogonadotropic hypogonadism1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000135HP:0000815Hypergonadotropic hypogonadism1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000135HP:0000134Female hypogonadism1USH2A CL E G H7399791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA1704012601608400
HP:0000135HP:0000815Hypergonadotropic hypogonadism1WDPCP CL E G H51057110ORPHA158728027613580
HP:0000135HP:0000134Female hypogonadism1WDPCP CL E G H51057110ORPHA158728027613580
HP:0000135HP:0000026Male hypogonadism1WDPCP CL E G H51057110ORPHA158728027613580
HP:0000135HP:0000044Hypogonadotropic hypogonadism1WDPCP CL E G H51057110ORPHA158728027613580
HP:0000135HP:0000134Female hypogonadism1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1313012791604611
HP:0000135HP:0000026Male hypogonadism1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1313012791604611
HP:0000135HP:0000044Hypogonadotropic hypogonadism1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1313012791604611
HP:0000135HP:0000815Hypergonadotropic hypogonadism1WRN CL E G H7486902Blepharo naso facial syndrome Van maldergem typeORPHA1313012791604611
HP:0000135HP:0000044Hypogonadotropic hypogonadism1WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1313012791604611
HP:0000135HP:0000815Hypergonadotropic hypogonadism1WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1313012791604611
HP:0000135HP:0000134Female hypogonadism1WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1313012791604611
HP:0000135HP:0000026Male hypogonadism1WRN CL E G H7486277700Werner syndrome277700C0043119OMIM1313012791604611
HP:0000135HP:0000026Male hypogonadism1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000135HP:0000044Hypogonadotropic hypogonadism1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000135HP:0000815Hypergonadotropic hypogonadism1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000135HP:0000134Female hypogonadism1XPA CL E G H7507910Blepharoptosis aortic anomalyORPHA132112814611153
HP:0000135HP:0000044Hypogonadotropic hypogonadism1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000135HP:0000815Hypergonadotropic hypogonadism1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000135HP:0000134Female hypogonadism1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000135HP:0000026Male hypogonadism1XPC CL E G H7508910Blepharoptosis aortic anomalyORPHA178812816613208
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ZBTB20 CL E G H261373042ORPHA125213503606025
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ZBTB20 CL E G H261373042ORPHA125213503606025
HP:0000135HP:0000134Female hypogonadism1ZBTB20 CL E G H261373042ORPHA125213503606025
HP:0000135HP:0000026Male hypogonadism1ZBTB20 CL E G H261373042ORPHA125213503606025
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000135HP:0000134Female hypogonadism1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000135HP:0000026Male hypogonadism1ZNF408 CL E G H79797791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA149420041616454
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000135HP:0000134Female hypogonadism1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000135HP:0000026Male hypogonadism1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ZNF513 CL E G H130557791Arthrogryposis multiplex congenita pulmonary hypoplasiaORPHA137626498613598
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000135HP:0000135Hypogonadism0ANTXR1 CL E G H841682067ORPHA014221014606410
HP:0000135HP:0000135Hypogonadism0BCS1L CL E G H617123ORPHA04131020603647
HP:0000135HP:0000135Hypogonadism0BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM011821097164757
HP:0000135HP:0000135Hypogonadism0BRCA1 CL E G H67284ORPHA0139551100113705
HP:0000135HP:0000135Hypogonadism0BRCA2 CL E G H67584ORPHA0175431101600185
HP:0000135HP:0000135Hypogonadism0BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0000135HP:0000135Hypogonadism0CUL4B CL E G H845085293ORPHA04152555300304
HP:0000135HP:0000135Hypogonadism0ERCC4 CL E G H207284ORPHA07263436133520
HP:0000135HP:0000135Hypogonadism0FANCA CL E G H217584ORPHA043963582607139
HP:0000135HP:0000135Hypogonadism0FANCB CL E G H218784ORPHA06333583300515
HP:0000135HP:0000135Hypogonadism0FANCC CL E G H217684ORPHA017433584613899
HP:0000135HP:0000135Hypogonadism0FANCD2 CL E G H217784ORPHA012623585613984
HP:0000135HP:0000135Hypogonadism0FANCE CL E G H217884ORPHA05273586613976
HP:0000135HP:0000135Hypogonadism0FANCF CL E G H218884ORPHA04343587613897
HP:0000135HP:0000135Hypogonadism0FANCG CL E G H218984ORPHA07903588602956
HP:0000135HP:0000135Hypogonadism0FANCI CL E G H5521584ORPHA0150625568611360
HP:0000135HP:0000135Hypogonadism0FANCL CL E G H5512084ORPHA054220748608111
HP:0000135HP:0000135Hypogonadism0FANCM CL E G H5769784ORPHA0204523168609644
HP:0000135HP:0000135Hypogonadism0GABRD CL E G H25631606ORPHA04744084137163
HP:0000135HP:0000135Hypogonadism0IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM014018550609382
HP:0000135HP:0000135Hypogonadism0KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000135HP:0000135Hypogonadism0MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0000135HP:0000135Hypogonadism0MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM04936840176872
HP:0000135HP:0000135Hypogonadism0PALB2 CL E G H7972884ORPHA0522526144610355
HP:0000135HP:0000135Hypogonadism0PDE4D CL E G H5144950ORPHA04758783600129
HP:0000135HP:0000135Hypogonadism0PHGDH CL E G H2622779351ORPHA06948923606879
HP:0000135HP:0000135Hypogonadism0PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000135HP:0000135Hypogonadism0PRKAR1A CL E G H5573950ORPHA011319388188830
HP:0000135HP:0000135Hypogonadism0PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0000135HP:0000135Hypogonadism0PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM08549644176876
HP:0000135HP:0000135Hypogonadism0RAD51 CL E G H588884ORPHA03589817179617
HP:0000135HP:0000135Hypogonadism0RAD51C CL E G H588984ORPHA018279820602774
HP:0000135HP:0000135Hypogonadism0RECQL4 CL E G H9401221016ORPHA042599949603780
HP:0000135HP:0000135Hypogonadism0RERE CL E G H4731606ORPHA06599965605226
HP:0000135HP:0000135Hypogonadism0RFWD3 CL E G H5515984ORPHA032625539614151
HP:0000135HP:0000135Hypogonadism0SKI CL E G H64971606ORPHA0106210896164780
HP:0000135HP:0000135Hypogonadism0SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000135HP:0000135Hypogonadism0SLC52A2 CL E G H7958197229ORPHA052030224607882
HP:0000135HP:0000135Hypogonadism0SLC52A3 CL E G H11327897229ORPHA046416187613350
HP:0000135HP:0000135Hypogonadism0SLX4 CL E G H8446484ORPHA0196823845613278
HP:0000135HP:0000135Hypogonadism0SMAD4 CL E G H40892588ORPHA018986770600993
HP:0000135HP:0000135Hypogonadism0SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000135HP:0000135Hypogonadism0STS CL E G H412281090ORPHA047511425300747
HP:0000135HP:0000135Hypogonadism0STUB1 CL E G H10273412057ORPHA022611427607207
HP:0000135HP:0000135Hypogonadism0TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA028611766190180
HP:0000135HP:0000135Hypogonadism0TRAF3IP1 CL E G H26146616629Senior-Loken syndrome 9616629C4225263OMIM060917861607380
HP:0000135HP:0000135Hypogonadism0TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000135HP:0000135Hypogonadism0UBE2T CL E G H2908984ORPHA04525009610538
HP:0000135HP:0000135Hypogonadism0XRCC2 CL E G H751684ORPHA069712829600375
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ANTXR1 CL E G H841682067ORPHA014221014606410
HP:0000135HP:0000134Female hypogonadism1ANTXR1 CL E G H841682067ORPHA014221014606410
HP:0000135HP:0000026Male hypogonadism1ANTXR1 CL E G H841682067ORPHA014221014606410
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ANTXR1 CL E G H841682067ORPHA014221014606410
HP:0000135HP:0000134Female hypogonadism1BCS1L CL E G H617123ORPHA04131020603647
HP:0000135HP:0000026Male hypogonadism1BCS1L CL E G H617123ORPHA04131020603647
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BCS1L CL E G H617123ORPHA04131020603647
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BCS1L CL E G H617123ORPHA04131020603647
HP:0000135HP:0000134Female hypogonadism1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM011821097164757
HP:0000135HP:0000026Male hypogonadism1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM011821097164757
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM011821097164757
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BRAF CL E G H673163950Noonan syndrome 1163950C0041409OMIM011821097164757
HP:0000135HP:0000026Male hypogonadism1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0000135HP:0000134Female hypogonadism1BRCA1 CL E G H67284ORPHA0139551100113705
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0000135HP:0000134Female hypogonadism1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0000135HP:0000026Male hypogonadism1BRCA2 CL E G H67584ORPHA0175431101600185
HP:0000135HP:0000815Hypergonadotropic hypogonadism1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0000135HP:0000134Female hypogonadism1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0000135HP:0000026Male hypogonadism1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0000135HP:0000044Hypogonadotropic hypogonadism1BRIP1 CL E G H8399084ORPHA0511020473605882
HP:0000135HP:0000044Hypogonadotropic hypogonadism1CUL4B CL E G H845085293ORPHA04152555300304
HP:0000135HP:0000815Hypergonadotropic hypogonadism1CUL4B CL E G H845085293ORPHA04152555300304
HP:0000135HP:0000134Female hypogonadism1CUL4B CL E G H845085293ORPHA04152555300304
HP:0000135HP:0000026Male hypogonadism1CUL4B CL E G H845085293ORPHA04152555300304
HP:0000135HP:0000134Female hypogonadism1ERCC4 CL E G H207284ORPHA07263436133520
HP:0000135HP:0000026Male hypogonadism1ERCC4 CL E G H207284ORPHA07263436133520
HP:0000135HP:0000044Hypogonadotropic hypogonadism1ERCC4 CL E G H207284ORPHA07263436133520
HP:0000135HP:0000815Hypergonadotropic hypogonadism1ERCC4 CL E G H207284ORPHA07263436133520
HP:0000135HP:0000026Male hypogonadism1FANCA CL E G H217584ORPHA043963582607139
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FANCA CL E G H217584ORPHA043963582607139
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FANCA CL E G H217584ORPHA043963582607139
HP:0000135HP:0000134Female hypogonadism1FANCA CL E G H217584ORPHA043963582607139
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FANCB CL E G H218784ORPHA06333583300515
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FANCB CL E G H218784ORPHA06333583300515
HP:0000135HP:0000134Female hypogonadism1FANCB CL E G H218784ORPHA06333583300515
HP:0000135HP:0000026Male hypogonadism1FANCB CL E G H218784ORPHA06333583300515
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FANCC CL E G H217684ORPHA017433584613899
HP:0000135HP:0000134Female hypogonadism1FANCC CL E G H217684ORPHA017433584613899
HP:0000135HP:0000026Male hypogonadism1FANCC CL E G H217684ORPHA017433584613899
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FANCC CL E G H217684ORPHA017433584613899
HP:0000135HP:0000134Female hypogonadism1FANCD2 CL E G H217784ORPHA012623585613984
HP:0000135HP:0000026Male hypogonadism1FANCD2 CL E G H217784ORPHA012623585613984
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FANCD2 CL E G H217784ORPHA012623585613984
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FANCD2 CL E G H217784ORPHA012623585613984
HP:0000135HP:0000026Male hypogonadism1FANCE CL E G H217884ORPHA05273586613976
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FANCE CL E G H217884ORPHA05273586613976
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FANCE CL E G H217884ORPHA05273586613976
HP:0000135HP:0000134Female hypogonadism1FANCE CL E G H217884ORPHA05273586613976
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FANCF CL E G H218884ORPHA04343587613897
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FANCF CL E G H218884ORPHA04343587613897
HP:0000135HP:0000134Female hypogonadism1FANCF CL E G H218884ORPHA04343587613897
HP:0000135HP:0000026Male hypogonadism1FANCF CL E G H218884ORPHA04343587613897
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FANCG CL E G H218984ORPHA07903588602956
HP:0000135HP:0000134Female hypogonadism1FANCG CL E G H218984ORPHA07903588602956
HP:0000135HP:0000026Male hypogonadism1FANCG CL E G H218984ORPHA07903588602956
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FANCG CL E G H218984ORPHA07903588602956
HP:0000135HP:0000134Female hypogonadism1FANCI CL E G H5521584ORPHA0150625568611360
HP:0000135HP:0000026Male hypogonadism1FANCI CL E G H5521584ORPHA0150625568611360
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FANCI CL E G H5521584ORPHA0150625568611360
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FANCI CL E G H5521584ORPHA0150625568611360
HP:0000135HP:0000026Male hypogonadism1FANCL CL E G H5512084ORPHA054220748608111
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FANCL CL E G H5512084ORPHA054220748608111
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FANCL CL E G H5512084ORPHA054220748608111
HP:0000135HP:0000134Female hypogonadism1FANCL CL E G H5512084ORPHA054220748608111
HP:0000135HP:0000044Hypogonadotropic hypogonadism1FANCM CL E G H5769784ORPHA0204523168609644
HP:0000135HP:0000815Hypergonadotropic hypogonadism1FANCM CL E G H5769784ORPHA0204523168609644
HP:0000135HP:0000134Female hypogonadism1FANCM CL E G H5769784ORPHA0204523168609644
HP:0000135HP:0000026Male hypogonadism1FANCM CL E G H5769784ORPHA0204523168609644
HP:0000135HP:0000044Hypogonadotropic hypogonadism1GABRD CL E G H25631606ORPHA04744084137163
HP:0000135HP:0000815Hypergonadotropic hypogonadism1GABRD CL E G H25631606ORPHA04744084137163
HP:0000135HP:0000134Female hypogonadism1GABRD CL E G H25631606ORPHA04744084137163
HP:0000135HP:0000026Male hypogonadism1GABRD CL E G H25631606ORPHA04744084137163
HP:0000135HP:0000134Female hypogonadism1IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM014018550609382
HP:0000135HP:0000026Male hypogonadism1IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM014018550609382
HP:0000135HP:0000044Hypogonadotropic hypogonadism1IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM014018550609382
HP:0000135HP:0000815Hypergonadotropic hypogonadism1IER3IP1 CL E G H51124614231Microcephaly, epilepsy, and diabetes syndrome614231C3280240OMIM014018550609382
HP:0000135HP:0000815Hypergonadotropic hypogonadism1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000135HP:0000134Female hypogonadism1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000135HP:0000026Male hypogonadism1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000135HP:0000044Hypogonadotropic hypogonadism1KCNAB2 CL E G H85141606ORPHA01146229601142
HP:0000135HP:0000815Hypergonadotropic hypogonadism1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0000135HP:0000134Female hypogonadism1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0000135HP:0000026Male hypogonadism1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MAD2L2 CL E G H1045984ORPHA01216764604094
HP:0000135HP:0000026Male hypogonadism1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM04936840176872
HP:0000135HP:0000044Hypogonadotropic hypogonadism1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM04936840176872
HP:0000135HP:0000815Hypergonadotropic hypogonadism1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM04936840176872
HP:0000135HP:0000134Female hypogonadism1MAP2K1 CL E G H5604163950Noonan syndrome 1163950C0041409OMIM04936840176872
HP:0000135HP:0000134Female hypogonadism1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0000135HP:0000026Male hypogonadism1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PALB2 CL E G H7972884ORPHA0522526144610355
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PDE4D CL E G H5144950ORPHA04758783600129
HP:0000135HP:0000134Female hypogonadism1PDE4D CL E G H5144950ORPHA04758783600129
HP:0000135HP:0000026Male hypogonadism1PDE4D CL E G H5144950ORPHA04758783600129
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PDE4D CL E G H5144950ORPHA04758783600129
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PHGDH CL E G H2622779351ORPHA06948923606879
HP:0000135HP:0000134Female hypogonadism1PHGDH CL E G H2622779351ORPHA06948923606879
HP:0000135HP:0000026Male hypogonadism1PHGDH CL E G H2622779351ORPHA06948923606879
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PHGDH CL E G H2622779351ORPHA06948923606879
HP:0000135HP:0000134Female hypogonadism1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000135HP:0000026Male hypogonadism1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PRDM16 CL E G H639761606ORPHA0127214000605557
HP:0000135HP:0000134Female hypogonadism1PRKAR1A CL E G H5573950ORPHA011319388188830
HP:0000135HP:0000026Male hypogonadism1PRKAR1A CL E G H5573950ORPHA011319388188830
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PRKAR1A CL E G H5573950ORPHA011319388188830
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PRKAR1A CL E G H5573950ORPHA011319388188830
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0000135HP:0000134Female hypogonadism1PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0000135HP:0000026Male hypogonadism1PTDSS1 CL E G H97912658ORPHA01909587612792
HP:0000135HP:0000044Hypogonadotropic hypogonadism1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM08549644176876
HP:0000135HP:0000815Hypergonadotropic hypogonadism1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM08549644176876
HP:0000135HP:0000134Female hypogonadism1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM08549644176876
HP:0000135HP:0000026Male hypogonadism1PTPN11 CL E G H5781163950Noonan syndrome 1163950C0041409OMIM08549644176876
HP:0000135HP:0000026Male hypogonadism1RAD51 CL E G H588884ORPHA03589817179617
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RAD51 CL E G H588884ORPHA03589817179617
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RAD51 CL E G H588884ORPHA03589817179617
HP:0000135HP:0000134Female hypogonadism1RAD51 CL E G H588884ORPHA03589817179617
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RAD51C CL E G H588984ORPHA018279820602774
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RAD51C CL E G H588984ORPHA018279820602774
HP:0000135HP:0000134Female hypogonadism1RAD51C CL E G H588984ORPHA018279820602774
HP:0000135HP:0000026Male hypogonadism1RAD51C CL E G H588984ORPHA018279820602774
HP:0000135HP:0000134Female hypogonadism1RECQL4 CL E G H9401221016ORPHA042599949603780
HP:0000135HP:0000026Male hypogonadism1RECQL4 CL E G H9401221016ORPHA042599949603780
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RECQL4 CL E G H9401221016ORPHA042599949603780
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RECQL4 CL E G H9401221016ORPHA042599949603780
HP:0000135HP:0000026Male hypogonadism1RERE CL E G H4731606ORPHA06599965605226
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RERE CL E G H4731606ORPHA06599965605226
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RERE CL E G H4731606ORPHA06599965605226
HP:0000135HP:0000134Female hypogonadism1RERE CL E G H4731606ORPHA06599965605226
HP:0000135HP:0000815Hypergonadotropic hypogonadism1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0000135HP:0000134Female hypogonadism1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0000135HP:0000026Male hypogonadism1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0000135HP:0000044Hypogonadotropic hypogonadism1RFWD3 CL E G H5515984ORPHA032625539614151
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SKI CL E G H64971606ORPHA0106210896164780
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SKI CL E G H64971606ORPHA0106210896164780
HP:0000135HP:0000134Female hypogonadism1SKI CL E G H64971606ORPHA0106210896164780
HP:0000135HP:0000026Male hypogonadism1SKI CL E G H64971606ORPHA0106210896164780
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000135HP:0000134Female hypogonadism1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000135HP:0000026Male hypogonadism1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SLC29A3 CL E G H55315168569ORPHA044723096612373
HP:0000135HP:0000134Female hypogonadism1SLC52A2 CL E G H7958197229ORPHA052030224607882
HP:0000135HP:0000026Male hypogonadism1SLC52A2 CL E G H7958197229ORPHA052030224607882
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SLC52A2 CL E G H7958197229ORPHA052030224607882
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SLC52A2 CL E G H7958197229ORPHA052030224607882
HP:0000135HP:0000026Male hypogonadism1SLC52A3 CL E G H11327897229ORPHA046416187613350
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SLC52A3 CL E G H11327897229ORPHA046416187613350
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SLC52A3 CL E G H11327897229ORPHA046416187613350
HP:0000135HP:0000134Female hypogonadism1SLC52A3 CL E G H11327897229ORPHA046416187613350
HP:0000135HP:0000134Female hypogonadism1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0000135HP:0000026Male hypogonadism1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SLX4 CL E G H8446484ORPHA0196823845613278
HP:0000135HP:0000026Male hypogonadism1SMAD4 CL E G H40892588ORPHA018986770600993
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SMAD4 CL E G H40892588ORPHA018986770600993
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SMAD4 CL E G H40892588ORPHA018986770600993
HP:0000135HP:0000134Female hypogonadism1SMAD4 CL E G H40892588ORPHA018986770600993
HP:0000135HP:0000044Hypogonadotropic hypogonadism1SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000135HP:0000815Hypergonadotropic hypogonadism1SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000135HP:0000134Female hypogonadism1SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000135HP:0000026Male hypogonadism1SNAP29 CL E G H934266631ORPHA065811133604202
HP:0000135HP:0000026Male hypogonadism1STS CL E G H412281090ORPHA047511425300747
HP:0000135HP:0000044Hypogonadotropic hypogonadism1STS CL E G H412281090ORPHA047511425300747
HP:0000135HP:0000815Hypergonadotropic hypogonadism1STS CL E G H412281090ORPHA047511425300747
HP:0000135HP:0000134Female hypogonadism1STS CL E G H412281090ORPHA047511425300747
HP:0000135HP:0000815Hypergonadotropic hypogonadism1STUB1 CL E G H10273412057ORPHA022611427607207
HP:0000135HP:0000134Female hypogonadism1STUB1 CL E G H10273412057ORPHA022611427607207
HP:0000135HP:0000026Male hypogonadism1STUB1 CL E G H10273412057ORPHA022611427607207
HP:0000135HP:0000044Hypogonadotropic hypogonadism1STUB1 CL E G H10273412057ORPHA022611427607207
HP:0000135HP:0000026Male hypogonadism1TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA028611766190180
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA028611766190180
HP:0000135HP:0000815Hypergonadotropic hypogonadism1TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA028611766190180
HP:0000135HP:0000134Female hypogonadism1TGFB1 CL E G H70401328Chromosome 15 ringCN035931ORPHA028611766190180
HP:0000135HP:0000026Male hypogonadism1TRAF3IP1 CL E G H26146616629Senior-Loken syndrome 9616629C4225263OMIM060917861607380
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TRAF3IP1 CL E G H26146616629Senior-Loken syndrome 9616629C4225263OMIM060917861607380
HP:0000135HP:0000815Hypergonadotropic hypogonadism1TRAF3IP1 CL E G H26146616629Senior-Loken syndrome 9616629C4225263OMIM060917861607380
HP:0000135HP:0000134Female hypogonadism1TRAF3IP1 CL E G H26146616629Senior-Loken syndrome 9616629C4225263OMIM060917861607380
HP:0000135HP:0000044Hypogonadotropic hypogonadism1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000135HP:0000815Hypergonadotropic hypogonadism1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000135HP:0000134Female hypogonadism1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000135HP:0000026Male hypogonadism1TWNK CL E G H56652609286Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3609286C1836439OMIM04501160606075
HP:0000135HP:0000026Male hypogonadism1UBE2T CL E G H2908984ORPHA04525009610538
HP:0000135HP:0000044Hypogonadotropic hypogonadism1UBE2T CL E G H2908984ORPHA04525009610538
HP:0000135HP:0000815Hypergonadotropic hypogonadism1UBE2T CL E G H2908984ORPHA04525009610538
HP:0000135HP:0000134Female hypogonadism1UBE2T CL E G H2908984ORPHA04525009610538
HP:0000135HP:0000044Hypogonadotropic hypogonadism1XRCC2 CL E G H751684ORPHA069712829600375
HP:0000135HP:0000815Hypergonadotropic hypogonadism1XRCC2 CL E G H751684ORPHA069712829600375
HP:0000135HP:0000134Female hypogonadism1XRCC2 CL E G H751684ORPHA069712829600375
HP:0000135HP:0000026Male hypogonadism1XRCC2 CL E G H751684ORPHA069712829600375


Genes (345) :A2ML1 ABCA4 ABCD1 AGBL5 AHI1 AHR AHSG AIP AIRE ALG1 ALMS1 ALX4 AMACR ANK1 ANOS1 ANTXR1 AR ARHGEF18 ARL2BP ARL3 ARL6 ARSE ATM ATRX AXL BAZ1B BBIP1 BBS1 BBS10 BBS12 BBS2 BBS4 BBS5 BBS7 BBS9 BCS1L BEST1 BMP15 BMP4 BMPR1B BRAF BRCA1 BRCA2 BRIP1 C8ORF37 C8orf37 CA4 CAMKMT CBX2 CCDC141 CDH23 CDHR1 CDKN1C CEP290 CERKL CHD7 CHRNG CISD2 CLIP2 CLPP CLRN1 CNBP CNGA1 CNGB1 COQ2 CRB1 CRX CTDP1 CTNNB1 CTNS CUL4B CYB5A CYP17A1 CYP19A1 DCAF17 DCC DDB2 DHDDS DHH DHX38 DMPK DMRT1 DMRT3 DMXL2 DNAL4 DUSP6 EIF2S3 ELN ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 EYS FAM161A FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FEZF1 FGF17 FGF8 FGFR1 FLRT3 FMR1 FSCN2 FSHB GABRD GALT GATA4 GJB2 GLI2 GNAS GNRH1 GNRHR GPR101 GTF2I GTF2IRD1 GUCA1B HAMP HDAC8 HERC2 HESX1 HFE HGSNAT HJV HS6ST1 HSD17B3 IDH3B IER3IP1 IFT140 IFT172 IFT27 IFT74 IFT88 IGF1 IL17RD IMPDH1 IMPG2 INPP5K IPW ITGB6 KAT6B KCNAB2 KIAA1549 KISS1 KISS1R KIZ KLHL7 KRAS LAS1L LEP LEPR LHB LHCGR LHX4 LIMK1 LMNA LRAT LZTFL1 LZTR1 MAD2L2 MAGEL2 MAK MAP2K1 MAP3K1 MEN1 MERTK MGME1 MKKS MKRN3 MKRN3-AS1 MKS1 MRE11 MRPS7 NDN NECTIN1 NEK2 NPAP1 NPHP1 NR0B1 NR2E3 NR5A1 NRAS NRL NSMF NTN1 OFD1 OTX2 PALB2 PCARE PCSK1 PDE11A PDE4D PDE6A PDE6B PDE6G PDE8B PEX1 PEX6 PHF6 PHGDH PLXND1 PMM2 PNPLA6 POLD1 POLG POLR1C POLR3A POLR3B POMGNT1 POU1F1 PPM1B PRCD PRDM16 PREPL PRKACA PRKAR1A PRLR PROK2 PROKR2 PROM1 PROP1 PRPF3 PRPF31 PRPF4 PRPF6 PRPF8 PRPH2 PSAT1 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 ROM1 RP1 RP2 RP9 RPE65 RPGR RRAS RRM2B SAG SAMD9 SCAPER SCP2 SDCCAG8 SEMA3A SEMA3E SEMA4A SGPL1 SIL1 SIN3A SIX6 SKI SLC29A3 SLC39A4 SLC3A1 SLC52A2 SLC52A3 SLC7A14 SLX4 SMAD4 SMCHD1 SNAP29 SNORD115-1 SNORD116-1 SNRNP200 SNRPN SOS1 SOS2 SOX10 SOX2 SOX3 SOX9 SPATA7 SPRY4 SRA1 SRY STEAP3 STS STUB1 SUFU TAC3 TACR3 TBL2 TFR2 TGFB1 TOPORS TP63 TRAF3IP1 TRIM32 TTC8 TUB TULP1 TWNK TYMP UBE2T USH2A VAMP7 WDPCP WDR11 WFS1 WRN WT1 WWOX XPA XPC XRCC2 ZBTB20 ZFPM2 ZMPSTE24 ZNF408 ZNF513

Diseases (207) :791 300100 79327 608540 228390 2067 312300 110 302950 309580 209900 615987 615989 615981 615982 615983 123 262000 163950 84 163693 85173 2990 602668 85293 300354 910 160900 616113 1466 601675 610651 216400 616030 615270 261483 229070 1606 615849 103580 612462 79230 613313 300882 465508 614231 615996 617119 73272 615267 559 309585 614962 79474 615994 615547 617872 3253 189439 280651 950 3220 127 79351 2671 615381 101800 262600 2658 612079 221016 268400 615993 617575 94065 168569 201100 97229 2588 603457 2250 66631 163746 613266 300298 615234 281090 412057 615768 1328 616629 615988 615985 609286 902 277700 3042 648 2850 2965 963 240300 64 203800 614307 251066 478 432 308700 208900 146110 904 300510 607932 609441 54595 242 91347 138 214800 612370 3463 614129 607426 48431 604168 219800 90796 90793 613546 91 3464 241080 238722 168563 251510 300148 227650 227645 227646 600901 612702 147950 52901 230400 494 95494 79443 79444 3459 176270 235200 602390 752 614842 614837 66628 179494 614963 228300 238320 2229 740 212112 352447 615084 251347 300200 393 614838 600955 570 212065 1180 215470 1173 275400 157640 298 88637 447896 607694 614381 397685 610628 244200 90695 377 1387 212720 217335 613075 212840 617053 613724 248800 206900 602782 614839 614840 604250 604292 271245 616138 411590 347 259050
 

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