Human Phenotype Ontology 
Grandparent Node:
expand
Abnormality of reproductive system physiology (HP:0000080)help
Grandparent Node:
expand
Puberty and gonadal disorders (HP:0008373)help
Parent Node:
expand
Hypogonadism (HP:0000135)help
..Starting node
..expand
Hypogonadotropic hypogonadism (HP:0000044)help
Term ID: 44
Name: Hypogonadotropic hypogonadism
Synonym: Hypogonadotrophic hypogonadism; Isolated hypogonadotropic hypogonadism; Low gonadotropins (secondary hypogonadism)
Definition: Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).
Comments:
Reference: HP:0000044
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandFemale hypogonadism (HP:0000134) help
..expandHypergonadotropic hypogonadism (HP:0000815) help
..expandMale hypogonadism (HP:0000026) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0000044HP:0000044Hypogonadotropic hypogonadism0A2ML1 CL E G H144568648ORPHA1140323336610627
HP:0000044HP:0000044Hypogonadotropic hypogonadism0AIP CL E G H90492965ORPHA1867358605555
HP:0000044HP:0000044Hypogonadotropic hypogonadism0AIP CL E G H9049963ORPHA1867358605555
HP:0000044HP:0000044Hypogonadotropic hypogonadism0ANK1 CL E G H286251066ORPHA1891492612641
HP:0000044HP:0000044Hypogonadotropic hypogonadism0ANOS1 CL E G H3730478Acral dysostosis dyserythropoiesis syndromeORPHA14706211300836
HP:0000044HP:0000044Hypogonadotropic hypogonadism0ANOS1 CL E G H3730432ArbovirosisORPHA14706211300836
HP:0000044HP:0000044Hypogonadotropic hypogonadism0ANOS1 CL E G H3730308700Kallmann syndrome 1308700C1563719OMIM14706211300836
HP:0000044HP:0000044Hypogonadotropic hypogonadism0AXL CL E G H558146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1165905109135
HP:0000044HP:0000044Hypogonadotropic hypogonadism0BRAF CL E G H67354595ORPHA111821097164757
HP:0000044HP:0000044Hypogonadotropic hypogonadism0BRAF CL E G H673648ORPHA111821097164757
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CBX2 CL E G H84733242ORPHA11141552602770
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CCDC141 CL E G H285025478Acral dysostosis dyserythropoiesis syndromeORPHA128126821616031
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CCDC141 CL E G H285025146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM128126821616031
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CDH23 CL E G H6407291347ORPHA1452213733605516
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CDH23 CL E G H640722965ORPHA1452213733605516
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CHD7 CL E G H55636138ORPHA1293020626608892
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CHD7 CL E G H55636478Acral dysostosis dyserythropoiesis syndromeORPHA1293020626608892
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CHD7 CL E G H55636432ArbovirosisORPHA1293020626608892
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CHD7 CL E G H55636214800CHARGE association214800C0265354OMIM1293020626608892
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CHD7 CL E G H55636612370Kallmann syndrome 5612370C2675302OMIM1293020626608892
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CTDP1 CL E G H915048431ORPHA16372498604927
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CTDP1 CL E G H9150604168Congenital Cataracts, Facial Dysmorphism, and Neuropathy604168C1858726OMIM16372498604927
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CTNNB1 CL E G H149954595ORPHA16242514116806
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DCAF17 CL E G H80067241080Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities241080C0342286OMIM136625784612515
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DCC CL E G H1630478Acral dysostosis dyserythropoiesis syndromeORPHA12592701120470
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DHH CL E G H50846242ORPHA11022865605423
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DMRT1 CL E G H1761242ORPHA12762934602424
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DUSP6 CL E G H1848478Acral dysostosis dyserythropoiesis syndromeORPHA1663072602748
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DUSP6 CL E G H1848432ArbovirosisORPHA1663072602748
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DUSP6 CL E G H1848146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1663072602748
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FEZF1 CL E G H389549478Acral dysostosis dyserythropoiesis syndromeORPHA110922788613301
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FEZF1 CL E G H389549146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM110922788613301
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGF17 CL E G H8822478Acral dysostosis dyserythropoiesis syndromeORPHA11193673603725
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGF17 CL E G H8822432ArbovirosisORPHA11193673603725
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGF17 CL E G H8822146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM11193673603725
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGF8 CL E G H2253478Acral dysostosis dyserythropoiesis syndromeORPHA1983686600483
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGF8 CL E G H2253432ArbovirosisORPHA1983686600483
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGF8 CL E G H2253612702Kallmann syndrome 6612702C2675188OMIM1983686600483
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGFR1 CL E G H2260478Acral dysostosis dyserythropoiesis syndromeORPHA19363688136350
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGFR1 CL E G H2260432ArbovirosisORPHA19363688136350
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGFR1 CL E G H2260147950Kallmann syndrome 2147950C1563720OMIM19363688136350
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FLRT3 CL E G H23767478Acral dysostosis dyserythropoiesis syndromeORPHA1773762604808
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FLRT3 CL E G H23767146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM1773762604808
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FSHB CL E G H248852901ORPHA1713964136530
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GJB2 CL E G H2706494ORPHA15714284121011
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GLI2 CL E G H273695494ORPHA18324318165230
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GNRH1 CL E G H2796432ArbovirosisORPHA11244419152760
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GNRH1 CL E G H2796146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM11244419152760
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GNRHR CL E G H2798432ArbovirosisORPHA11984421138850
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GNRHR CL E G H2798146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM11984421138850
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GPR101 CL E G H83550963ORPHA121114963300393
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HDAC8 CL E G H558693459ORPHA138113315300269
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HERC2 CL E G H8924176270Prader-Willi syndrome176270C0032897OMIM19364868605837
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HESX1 CL E G H882095494ORPHA11124877601802
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HESX1 CL E G H8820478Acral dysostosis dyserythropoiesis syndromeORPHA11124877601802
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HFE CL E G H3077235200Hemochromatosis type 1235200C3469186OMIM12374886613609
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HS6ST1 CL E G H9394478Acral dysostosis dyserythropoiesis syndromeORPHA11125201604846
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HS6ST1 CL E G H9394432ArbovirosisORPHA11125201604846
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HSD17B3 CL E G H3293752ORPHA11755212605573
HP:0000044HP:0000044Hypogonadotropic hypogonadism0IL17RD CL E G H54756478Acral dysostosis dyserythropoiesis syndromeORPHA116317616606807
HP:0000044HP:0000044Hypogonadotropic hypogonadism0IL17RD CL E G H54756146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM116317616606807
HP:0000044HP:0000044Hypogonadotropic hypogonadism0IPW CL E G H3653176270Prader-Willi syndrome176270C0032897OMIM13026109601491
HP:0000044HP:0000044Hypogonadotropic hypogonadism0KAT6B CL E G H23522648ORPHA1100317582605880
HP:0000044HP:0000044Hypogonadotropic hypogonadism0KISS1 CL E G H3814432ArbovirosisORPHA1576341603286
HP:0000044HP:0000044Hypogonadotropic hypogonadism0KISS1 CL E G H3814614842Hypogonadotropic hypogonadism 13 with or without anosmia614842C3541462OMIM1576341603286
HP:0000044HP:0000044Hypogonadotropic hypogonadism0KISS1R CL E G H84634478Acral dysostosis dyserythropoiesis syndromeORPHA11544510604161
HP:0000044HP:0000044Hypogonadotropic hypogonadism0KISS1R CL E G H84634432ArbovirosisORPHA11544510604161
HP:0000044HP:0000044Hypogonadotropic hypogonadism0KISS1R CL E G H84634614837Hypogonadotropic hypogonadism 8 with or without anosmia614837C3553841OMIM11544510604161
HP:0000044HP:0000044Hypogonadotropic hypogonadism0KRAS CL E G H3845648ORPHA14806407190070
HP:0000044HP:0000044Hypogonadotropic hypogonadism0LAS1L CL E G H818873459ORPHA128325726300964
HP:0000044HP:0000044Hypogonadotropic hypogonadism0LHB CL E G H3972228300Isolated lutropin deficiency228300C0271582OMIM1796584152780
HP:0000044HP:0000044Hypogonadotropic hypogonadism0LHX4 CL E G H8988495494ORPHA117221734602146
HP:0000044HP:0000044Hypogonadotropic hypogonadism0LMNA CL E G H4000740Aortic arch interruptionORPHA118146636150330
HP:0000044HP:0000044Hypogonadotropic hypogonadism0LZTR1 CL E G H8216648ORPHA128596742600574
HP:0000044HP:0000044Hypogonadotropic hypogonadism0MAGEL2 CL E G H54551176270Prader-Willi syndrome176270C0032897OMIM110136814605283
HP:0000044HP:0000044Hypogonadotropic hypogonadism0MAP3K1 CL E G H4214242ORPHA12566848600982
HP:0000044HP:0000044Hypogonadotropic hypogonadism0MEN1 CL E G H42212965ORPHA121737010613733
HP:0000044HP:0000044Hypogonadotropic hypogonadism0MKRN3 CL E G H7681176270Prader-Willi syndrome176270C0032897OMIM13577114603856
HP:0000044HP:0000044Hypogonadotropic hypogonadism0MKRN3-AS1 CL E G H10108176270Prader-Willi syndrome176270C0032897OMIM112910603857
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NDN CL E G H4692176270Prader-Willi syndrome176270C0032897OMIM13287675602117
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NPAP1 CL E G H23742176270Prader-Willi syndrome176270C0032897OMIM13871190610922
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NR0B1 CL E G H190242ORPHA13737960300473
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NR0B1 CL E G H190300200Congenital adrenal hypoplasia, X-linked300200C0342482OMIM13737960300473
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NR5A1 CL E G H2516242ORPHA12517983184757
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NRAS CL E G H4893648ORPHA12817989164790
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NSMF CL E G H26012478Acral dysostosis dyserythropoiesis syndromeORPHA119729843608137
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NSMF CL E G H26012432ArbovirosisORPHA119729843608137
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NSMF CL E G H26012614838Hypogonadotropic hypogonadism 9 with or without anosmia614838C3553842OMIM119729843608137
HP:0000044HP:0000044Hypogonadotropic hypogonadism0OTX2 CL E G H501595494ORPHA12318522600037
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PCSK1 CL E G H5122600955Proprotein convertase 1/3 deficiency600955C1833053OMIM12678743162150
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PNPLA6 CL E G H109081180ORPHA1121616268603197
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PNPLA6 CL E G H109081173CDG syndrome type 3ORPHA1121616268603197
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PNPLA6 CL E G H10908275400Trichomegaly with mental retardation, dwarfism and pigmentary degeneration of retina275400C1848745OMIM1121616268603197
HP:0000044HP:0000044Hypogonadotropic hypogonadism0POLR3A CL E G H11128447896ORPHA1102530074614258
HP:0000044HP:0000044Hypogonadotropic hypogonadism0POLR3A CL E G H11128607694Hypomyelinating leukodystrophy 7607694C2676243OMIM1102530074614258
HP:0000044HP:0000044Hypogonadotropic hypogonadism0POLR3B CL E G H55703146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM151030348614366
HP:0000044HP:0000044Hypogonadotropic hypogonadism0POLR3B CL E G H55703607694Hypomyelinating leukodystrophy 7607694C2676243OMIM151030348614366
HP:0000044HP:0000044Hypogonadotropic hypogonadism0POU1F1 CL E G H544995494ORPHA11049210173110
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PROK2 CL E G H60675478Acral dysostosis dyserythropoiesis syndromeORPHA16518455607002
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PROK2 CL E G H60675432ArbovirosisORPHA16518455607002
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PROK2 CL E G H60675610628Hypogonadotropic hypogonadism 4 with or without anosmia610628C1857720OMIM16518455607002
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PROKR2 CL E G H128674478Acral dysostosis dyserythropoiesis syndromeORPHA116015836607123
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PROKR2 CL E G H128674432ArbovirosisORPHA116015836607123
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PROKR2 CL E G H128674244200Kallmann syndrome 3244200C2930927OMIM116015836607123
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PROP1 CL E G H562695494ORPHA12619455601538
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PROP1 CL E G H562690695ORPHA12619455601538
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PTPN11 CL E G H5781648ORPHA18549644176876
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PWAR1 CL E G H145624176270Prader-Willi syndrome176270C0032897OMIM130330089600161
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PWRN1 CL E G H791114176270Prader-Willi syndrome176270C0032897OMIM131433235611215
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RAB3GAP1 CL E G H229301387Cleft palate cardiac defect ectrodactylyORPHA145917063602536
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RAB3GAP2 CL E G H257821387Cleft palate cardiac defect ectrodactylyORPHA167117168609275
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RAB3GAP2 CL E G H25782212720Martsolf syndrome212720C0796037OMIM167117168609275
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RAF1 CL E G H5894648ORPHA19909829164760
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RASA2 CL E G H5922648ORPHA15339872601589
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RIT1 CL E G H6016648ORPHA126910023609591
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RNF216 CL E G H544761173CDG syndrome type 3ORPHA129721698609948
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RNF216 CL E G H54476212840Gordon Holmes syndrome212840C1859305OMIM129721698609948
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RRAS CL E G H6237648ORPHA126010447165090
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SEMA3A CL E G H10371478Acral dysostosis dyserythropoiesis syndromeORPHA121410723603961
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SEMA3E CL E G H9723138ORPHA159410727608166
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SEMA3E CL E G H9723214800CHARGE association214800C0265354OMIM159410727608166
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SEMA3E CL E G H9723146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM159410727608166
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SIX6 CL E G H4990206900Microphthalmia syndromic 3206900C1859773OMIM112810892606326
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SNORD115-1 CL E G H338433176270Prader-Willi syndrome176270C0032897OMIM130533020609837
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SNORD116-1 CL E G H100033413176270Prader-Willi syndrome176270C0032897OMIM130533067605436
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SNRPN CL E G H6638176270Prader-Willi syndrome176270C0032897OMIM139611164182279
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SOS1 CL E G H6654648ORPHA1150311187182530
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SOS2 CL E G H6655648ORPHA1125011188601247
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SOX10 CL E G H6663478Acral dysostosis dyserythropoiesis syndromeORPHA137811190602229
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SOX2 CL E G H6657206900Microphthalmia syndromic 3206900C1859773OMIM121111195184429
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SOX3 CL E G H665890695ORPHA126411199313430
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SOX9 CL E G H6662242ORPHA136311204608160
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SPRY4 CL E G H81848478Acral dysostosis dyserythropoiesis syndromeORPHA17815533607984
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SPRY4 CL E G H81848432ArbovirosisORPHA17815533607984
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SPRY4 CL E G H81848146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM17815533607984
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SRA1 CL E G H10011146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM18211281603819
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SRY CL E G H6736242ORPHA111511311480000
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TAC3 CL E G H6866432ArbovirosisORPHA13111521162330
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TAC3 CL E G H6866614839Hypogonadotropic hypogonadism 10 with or without anosmia614839C3553843OMIM13111521162330
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TACR3 CL E G H6870478Acral dysostosis dyserythropoiesis syndromeORPHA113211528162332
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TACR3 CL E G H6870432ArbovirosisORPHA113211528162332
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TACR3 CL E G H6870614840Hypogonadotropic hypogonadism 11 with or without anosmia614840C3553844OMIM113211528162332
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TFR2 CL E G H7036604250Hemochromatosis type 3604250C1858664OMIM168711762604720
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TP63 CL E G H8626604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3604292C1858562OMIM163115979603273
HP:0000044HP:0000044Hypogonadotropic hypogonadism0WDR11 CL E G H55717478Acral dysostosis dyserythropoiesis syndromeORPHA136913831606417
HP:0000044HP:0000044Hypogonadotropic hypogonadism0WDR11 CL E G H55717432ArbovirosisORPHA136913831606417
HP:0000044HP:0000044Hypogonadotropic hypogonadism0WDR11 CL E G H55717146110Hypogonadotropic hypogonadism 7 with or without anosmia146110C0342384OMIM136913831606417
HP:0000044HP:0000044Hypogonadotropic hypogonadism0WT1 CL E G H7490242ORPHA1137112796607102
HP:0000044HP:0000044Hypogonadotropic hypogonadism0ZMPSTE24 CL E G H10269740Aortic arch interruptionORPHA120912877606480
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000044HP:0000044Hypogonadotropic hypogonadism0BAZ1B CL E G H9031904Blepharophimosis nasal groove growth retardationORPHA0249961605681
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CLIP2 CL E G H7461904Blepharophimosis nasal groove growth retardationORPHA02292586603432
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DCC CL E G H1630238722ORPHA02592701120470
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DNAL4 CL E G H10126238722ORPHA0322955610565
HP:0000044HP:0000044Hypogonadotropic hypogonadism0ELN CL E G H2006904Blepharophimosis nasal groove growth retardationORPHA09663327130160
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GTF2I CL E G H2969904Blepharophimosis nasal groove growth retardationORPHA01784659601679
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GTF2IRD1 CL E G H9569904Blepharophimosis nasal groove growth retardationORPHA02664661604318
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HJV CL E G H148738602390Hemochromatosis type 2A602390C1865614OMIM04704887608374
HP:0000044HP:0000044Hypogonadotropic hypogonadism0LIMK1 CL E G H3984904Blepharophimosis nasal groove growth retardationORPHA02326613601329
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NTN1 CL E G H9423238722ORPHA0598029601614
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PLXND1 CL E G H23129570ORPHA02149107604282
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PNPLA6 CL E G H10908215470Boucher Neuhauser syndrome215470C1859093OMIM0121616268603197
HP:0000044HP:0000044Hypogonadotropic hypogonadism0POLG CL E G H5428298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA023249179174763
HP:0000044HP:0000044Hypogonadotropic hypogonadism0POLR3B CL E G H55703614381Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism614381C3280644OMIM051030348614366
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PTCH1 CL E G H5727377ORPHA044879585601309
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PTCH2 CL E G H8643377ORPHA07919586603673
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RAD51 CL E G H5888238722ORPHA03589817179617
HP:0000044HP:0000044Hypogonadotropic hypogonadism0REV3L CL E G H5980570ORPHA02129968602776
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RFC2 CL E G H5982904Blepharophimosis nasal groove growth retardationORPHA02009970600404
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RRM2B CL E G H50484298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA035417296604712
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SUFU CL E G H51684377ORPHA0130616466607035
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TBL2 CL E G H26608904Blepharophimosis nasal groove growth retardationORPHA019411586605842
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TYMP CL E G H1890298Mitochondrial neurogastrointestinal encephalomyopathyCN918676ORPHA08953148131222


Genes (117) :A2ML1 AIP ANK1 ANOS1 AXL BAZ1B BRAF CBX2 CCDC141 CDH23 CHD7 CLIP2 CTDP1 CTNNB1 DCAF17 DCC DHH DMRT1 DNAL4 DUSP6 ELN FEZF1 FGF17 FGF8 FGFR1 FLRT3 FSHB GJB2 GLI2 GNRH1 GNRHR GPR101 GTF2I GTF2IRD1 HDAC8 HERC2 HESX1 HFE HJV HS6ST1 HSD17B3 IL17RD IPW KAT6B KISS1 KISS1R KRAS LAS1L LHB LHX4 LIMK1 LMNA LZTR1 MAGEL2 MAP3K1 MEN1 MKRN3 MKRN3-AS1 NDN NPAP1 NR0B1 NR5A1 NRAS NSMF NTN1 OTX2 PCSK1 PLXND1 PNPLA6 POLG POLR3A POLR3B POU1F1 PROK2 PROKR2 PROP1 PTCH1 PTCH2 PTPN11 PWAR1 PWRN1 RAB3GAP1 RAB3GAP2 RAD51 RAF1 RASA2 REV3L RFC2 RIT1 RNF216 RRAS RRM2B SEMA3A SEMA3E SIX6 SNORD115-1 SNORD116-1 SNRPN SOS1 SOS2 SOX10 SOX2 SOX3 SOX9 SPRY4 SRA1 SRY SUFU TAC3 TACR3 TBL2 TFR2 TP63 TYMP WDR11 WT1 ZMPSTE24

Diseases (57) :648 963 2965 251066 478 432 308700 146110 904 54595 242 91347 138 214800 612370 48431 604168 241080 238722 612702 147950 52901 494 95494 3459 176270 235200 602390 752 614842 614837 228300 740 300200 614838 600955 570 1180 215470 1173 275400 298 447896 607694 614381 610628 244200 90695 377 1387 212720 212840 206900 614839 614840 604250 604292
 

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