Human Phenotype Ontology 
Grandparent Node:
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Abnormality of reproductive system physiology (HP:0000080)help
Grandparent Node:
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Puberty and gonadal disorders (HP:0008373)help
Parent Node:
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Hypogonadism (HP:0000135)help
..Starting node
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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 entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000044HP:0000044Hypogonadotropic hypogonadism0AIP CL E G H9049358ORPHA:963AcromegalyHP:0040282 - Frequent95
HP:0000044HP:0000044Hypogonadotropic hypogonadism0AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040281 - Very frequent95
HP:0000044HP:0000044Hypogonadotropic hypogonadism0AKT1 CL E G H207391ORPHA:2495MeningiomaHP:0040282 - Frequent54
HP:0000044HP:0000044Hypogonadotropic hypogonadism0ANK1 CL E G H286492ORPHA:2510668p11.2 deletion syndromeHP:0040281 - Very frequent150
HP:0000044HP:0000044Hypogonadotropic hypogonadism0ANOS1 CL E G H37306211OMIM:308700Hypogonadotropic hypogonadism 1 with or without anosmia.65
HP:0000044HP:0000044Hypogonadotropic hypogonadism0ANOS1 CL E G H37306211ORPHA:478Kallmann syndromeHP:0040281 - Very frequent65
HP:0000044HP:0000044Hypogonadotropic hypogonadism0AXL CL E G H558905OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0000044HP:0000044Hypogonadotropic hypogonadism0BAP1 CL E G H8314950ORPHA:2495MeningiomaHP:0040282 - Frequent184
HP:0000044HP:0000044Hypogonadotropic hypogonadism0BAZ1B CL E G H9031961ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000044HP:0000044Hypogonadotropic hypogonadism0BCL7B CL E G H92751005ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000044HP:0000044Hypogonadotropic hypogonadism0BMP2 CL E G H6501069OMIM:235200Hemochromatosis, type 1.13
HP:0000044HP:0000044Hypogonadotropic hypogonadism0BMP6 CL E G H6541073ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional
HP:0000044HP:0000044Hypogonadotropic hypogonadism0BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent276
HP:0000044HP:0000044Hypogonadotropic hypogonadism0BUD23 CL E G H11404916405ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CBL CL E G H8671541ORPHA:648Noonan syndromeHP:0040281 - Very frequent317
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CBX2 CL E G H847331552ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent3
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CCDC141 CL E G H28502526821OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CCDC141 CL E G H28502526821ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040281 - Very frequent636
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CHD4 CL E G H11081919OMIM:617159Sifrim-Hitz-Weiss syndrome14
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CHD7 CL E G H5563620626OMIM:214800Charge syndrome.515
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CHD7 CL E G H5563620626ORPHA:138CHARGE syndromeHP:0040281 - Very frequent515
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CHD7 CL E G H5563620626OMIM:612370Hypogonadotropic hypogonadism 5 with or without anosmia515
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CHD7 CL E G H5563620626ORPHA:478Kallmann syndromeHP:0040281 - Very frequent515
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent515
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CLIP2 CL E G H74612586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000044HP:0000044Hypogonadotropic hypogonadism0COX1 CL E G H45127419ORPHA:550MELASHP:0040284 - Very rare
HP:0000044HP:0000044Hypogonadotropic hypogonadism0COX2 CL E G H45137421ORPHA:550MELASHP:0040284 - Very rare
HP:0000044HP:0000044Hypogonadotropic hypogonadism0COX3 CL E G H45147422ORPHA:550MELASHP:0040284 - Very rare
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CPE CL E G H13632303OMIM:619326BDV SYNDROME; BDVS
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CTDP1 CL E G H91502498OMIM:604168Congenital cataracts, facial dysmorphism, and neuropathy.17
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CTDP1 CL E G H91502498ORPHA:48431Congenital cataracts-facial dysmorphism-neuropathy syndromeHP:0040281 - Very frequent17
HP:0000044HP:0000044Hypogonadotropic hypogonadism0CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040282 - Frequent88
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DCAF17 CL E G H8006725784OMIM:241080Woodhouse-Sakati syndrome.87
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DCC CL E G H16302701ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare36
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DCC CL E G H16302701ORPHA:478Kallmann syndromeHP:0040281 - Very frequent36
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DHH CL E G H508462865ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent21
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DHX37 CL E G H5764717210ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent2
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DMRT1 CL E G H17612934ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent2
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DMXL2 CL E G H233122938ORPHA:453533Polyendocrine-polyneuropathy syndromeHP:0040282 - Frequent3
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DNAJC30 CL E G H8427716410ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DNAL4 CL E G H101262955ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare2
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DUSP6 CL E G H18483072OMIM:615269Hypogonadotropic hypogonadism 19 with or without anosmia4
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DUSP6 CL E G H18483072OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.4
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DUSP6 CL E G H18483072ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0000044HP:0000044Hypogonadotropic hypogonadism0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent4
HP:0000044HP:0000044Hypogonadotropic hypogonadism0EIF4H CL E G H745812741ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000044HP:0000044Hypogonadotropic hypogonadism0ELN CL E G H20063327ORPHA:904Williams syndromeHP:0040283 - Occasional172
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FEZF1 CL E G H38954922788OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.2
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FEZF1 CL E G H38954922788ORPHA:478Kallmann syndromeHP:0040281 - Very frequent2
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGF17 CL E G H88223673OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.3
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGF17 CL E G H88223673ORPHA:478Kallmann syndromeHP:0040281 - Very frequent3
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGF8 CL E G H22533686OMIM:612702Hypogonadotropic hypogonadism 6 with or without anosmia.17
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGF8 CL E G H22533686ORPHA:478Kallmann syndromeHP:0040281 - Very frequent17
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent17
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGFR1 CL E G H22603688OMIM:147950Hypogonadotropic hypogonadism 2 with or without anosmia.172
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGFR1 CL E G H22603688ORPHA:478Kallmann syndromeHP:0040281 - Very frequent172
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent172
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FKBP6 CL E G H84683722ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FLRT3 CL E G H237673762ORPHA:478Kallmann syndromeHP:0040281 - Very frequent4
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FOXA2 CL E G H31705022ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent
HP:0000044HP:0000044Hypogonadotropic hypogonadism0FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiencyHP:0040280 - Obligate23
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GJB2 CL E G H27064284ORPHA:494Keratoderma hereditarium mutilansHP:0040282 - Frequent199
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GLI2 CL E G H27364318ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent173
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GNRH1 CL E G H27964419OMIM:614841Hypogonadotropic hypogonadism 12 with or without anosmia.15
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GNRH1 CL E G H27964419OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.15
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent15
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GNRHR CL E G H27984421OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.92
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent92
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GPR101 CL E G H8355014963ORPHA:963AcromegalyHP:0040282 - Frequent5
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GTF2I CL E G H29694659ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GTF2IRD1 CL E G H95694661ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000044HP:0000044Hypogonadotropic hypogonadism0GTF2IRD2 CL E G H8416330775ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HDAC8 CL E G H5586913315ORPHA:3459Wilson-Turner syndromeHP:0040282 - Frequent37
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HERC2 CL E G H89244868OMIM:176270Prader-Willi syndrome38
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HESX1 CL E G H88204877ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent21
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HESX1 CL E G H88204877ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional21
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HESX1 CL E G H88204877ORPHA:478Kallmann syndromeHP:0040281 - Very frequent21
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HFE CL E G H30774886OMIM:235200Hemochromatosis, type 1.38
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HFE CL E G H30774886ORPHA:465508Symptomatic form of hemochromatosis type 1HP:0040283 - Occasional38
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HJV CL E G H1487384887OMIM:602390Hemochromatosis, type 2A
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HS6ST1 CL E G H93945201ORPHA:478Kallmann syndromeHP:0040281 - Very frequent8
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent8
HP:0000044HP:0000044Hypogonadotropic hypogonadism0HSD17B3 CL E G H32935212ORPHA:75246,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiencyHP:0040281 - Very frequent31
HP:0000044HP:0000044Hypogonadotropic hypogonadism0IL17RD CL E G H5475617616ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0000044HP:0000044Hypogonadotropic hypogonadism0IPW CL E G H36536109OMIM:176270Prader-Willi syndrome
HP:0000044HP:0000044Hypogonadotropic hypogonadism0KISS1 CL E G H38146341OMIM:614842Hypogonadotropic hypogonadism 13 with or without anosmia.3
HP:0000044HP:0000044Hypogonadotropic hypogonadism0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0000044HP:0000044Hypogonadotropic hypogonadism0KISS1R CL E G H846344510OMIM:614837Hypogonadotropic hypogonadism 8 with or without anosmia.14
HP:0000044HP:0000044Hypogonadotropic hypogonadism0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent14
HP:0000044HP:0000044Hypogonadotropic hypogonadism0KRAS CL E G H38456407ORPHA:648Noonan syndromeHP:0040281 - Very frequent196
HP:0000044HP:0000044Hypogonadotropic hypogonadism0LAS1L CL E G H8188725726ORPHA:3459Wilson-Turner syndromeHP:0040282 - Frequent8
HP:0000044HP:0000044Hypogonadotropic hypogonadism0LHB CL E G H39726584OMIM:228300Hypogonadotropic hypogonadism 23 without anosmia.9
HP:0000044HP:0000044Hypogonadotropic hypogonadism0LHX3 CL E G H80226595ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional51
HP:0000044HP:0000044Hypogonadotropic hypogonadism0LHX4 CL E G H8988421734ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent43
HP:0000044HP:0000044Hypogonadotropic hypogonadism0LHX4 CL E G H8988421734ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional43
HP:0000044HP:0000044Hypogonadotropic hypogonadism0LIG3 CL E G H39806600ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional1
HP:0000044HP:0000044Hypogonadotropic hypogonadism0LIMK1 CL E G H39846613ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000044HP:0000044Hypogonadotropic hypogonadism0LZTR1 CL E G H82166742ORPHA:648Noonan syndromeHP:0040281 - Very frequent43
HP:0000044HP:0000044Hypogonadotropic hypogonadism0MAGEL2 CL E G H545516814OMIM:176270Prader-Willi syndrome63
HP:0000044HP:0000044Hypogonadotropic hypogonadism0MAGEL2 CL E G H545516814ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040284 - Very rare63
HP:0000044HP:0000044Hypogonadotropic hypogonadism0MAGEL2 CL E G H545516814ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent63
HP:0000044HP:0000044Hypogonadotropic hypogonadism0MAGEL2 CL E G H545516814ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent63
HP:0000044HP:0000044Hypogonadotropic hypogonadism0MAGEL2 CL E G H545516814ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent63
HP:0000044HP:0000044Hypogonadotropic hypogonadism0MAP3K1 CL E G H42146848ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent13
HP:0000044HP:0000044Hypogonadotropic hypogonadism0MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040281 - Very frequent462
HP:0000044HP:0000044Hypogonadotropic hypogonadism0METTL27 CL E G H15536819068ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000044HP:0000044Hypogonadotropic hypogonadism0MKRN3 CL E G H76817114OMIM:176270Prader-Willi syndrome5
HP:0000044HP:0000044Hypogonadotropic hypogonadism0MKRN3-AS1 CL E G H10108OMIM:176270Prader-Willi syndrome
HP:0000044HP:0000044Hypogonadotropic hypogonadism0MLXIPL CL E G H5108512744ORPHA:904Williams syndromeHP:0040283 - Occasional1
HP:0000044HP:0000044Hypogonadotropic hypogonadism0MRAS CL E G H228087227ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NCF1 CL E G H6533617660ORPHA:904Williams syndromeHP:0040283 - Occasional13
HP:0000044HP:0000044Hypogonadotropic hypogonadism0ND1 CL E G H45357455ORPHA:550MELASHP:0040284 - Very rare
HP:0000044HP:0000044Hypogonadotropic hypogonadism0ND4 CL E G H45387459ORPHA:550MELASHP:0040284 - Very rare
HP:0000044HP:0000044Hypogonadotropic hypogonadism0ND5 CL E G H45407461ORPHA:550MELASHP:0040284 - Very rare
HP:0000044HP:0000044Hypogonadotropic hypogonadism0ND6 CL E G H45417462ORPHA:550MELASHP:0040284 - Very rare
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NDN CL E G H46927675ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040284 - Very rare
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NDN CL E G H46927675ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NDN CL E G H46927675ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NDN CL E G H46927675ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NDNF CL E G H7962526256ORPHA:478Kallmann syndromeHP:0040281 - Very frequent
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NF2 CL E G H47717773ORPHA:2495MeningiomaHP:0040282 - Frequent220
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NPAP1 CL E G H237421190OMIM:176270Prader-Willi syndrome1
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NR0B1 CL E G H1907960ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent48
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NR0B1 CL E G H1907960OMIM:300200Adrenal hypoplasia, congenital.48
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NR5A1 CL E G H25167983ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent38
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NRAS CL E G H48937989ORPHA:648Noonan syndromeHP:0040281 - Very frequent102
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NSMF CL E G H2601229843OMIM:614838Hypogonadotropic hypogonadism 9 with or without anosmia.6
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0000044HP:0000044Hypogonadotropic hypogonadism0NTN1 CL E G H94238029ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare
HP:0000044HP:0000044Hypogonadotropic hypogonadism0OCA2 CL E G H49488101ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent121
HP:0000044HP:0000044Hypogonadotropic hypogonadism0OCA2 CL E G H49488101ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent121
HP:0000044HP:0000044Hypogonadotropic hypogonadism0OCA2 CL E G H49488101ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent121
HP:0000044HP:0000044Hypogonadotropic hypogonadism0OTX2 CL E G H50158522ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent41
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PCSK1 CL E G H51228743OMIM:600955Proprotein convertase 1/3 deficiency.65
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PDGFB CL E G H51558800ORPHA:2495MeningiomaHP:0040282 - Frequent9
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PIK3CA CL E G H52908975ORPHA:2495MeningiomaHP:0040282 - Frequent162
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PLXND1 CL E G H231299107ORPHA:570Moebius syndromeHP:0040283 - Occasional
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PMM2 CL E G H53739115ORPHA:79318PMM2-CDGHP:0040283 - Occasional150
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PNPLA6 CL E G H1090816268ORPHA:1180Ataxia-hypogonadism-choroidal dystrophy syndromeHP:0040281 - Very frequent103
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PNPLA6 CL E G H1090816268OMIM:215470Boucher-Neuhauser syndrome103
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PNPLA6 CL E G H1090816268ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040281 - Very frequent103
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PNPLA6 CL E G H1090816268OMIM:275400Oliver-Mcfarlane syndrome.103
HP:0000044HP:0000044Hypogonadotropic hypogonadism0POLA1 CL E G H54229173OMIM:301030Van esch-o'driscoll syndrome2
HP:0000044HP:0000044Hypogonadotropic hypogonadism0POLG CL E G H54289179ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional464
HP:0000044HP:0000044Hypogonadotropic hypogonadism0POLR3A CL E G H1112830074OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.138
HP:0000044HP:0000044Hypogonadotropic hypogonadism0POLR3A CL E G H1112830074ORPHA:447896Tremor-ataxia-central hypomyelination syndromeHP:0040282 - Frequent138
HP:0000044HP:0000044Hypogonadotropic hypogonadism0POLR3A CL E G H1112830074ORPHA:3455Wiedemann-Rautenstrauch syndromeHP:0040282 - Frequent138
HP:0000044HP:0000044Hypogonadotropic hypogonadism0POLR3B CL E G H5570330348OMIM:607694Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/orhypogonadotropic hypogonadism.67
HP:0000044HP:0000044Hypogonadotropic hypogonadism0POLR3B CL E G H5570330348OMIM:614381Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadismHP:0040283 - Occasional67
HP:0000044HP:0000044Hypogonadotropic hypogonadism0POLR3K CL E G H5172814121OMIM:619310LEUKODYSTROPHY, HYPOMYELINATING, 21; HLD21
HP:0000044HP:0000044Hypogonadotropic hypogonadism0POU1F1 CL E G H54499210ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent36
HP:0000044HP:0000044Hypogonadotropic hypogonadism0POU1F1 CL E G H54499210ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional36
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PRDM13 CL E G H5933613998OMIM:619761CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH2
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PROK2 CL E G H6067518455OMIM:610628Hypogonadotropic hypogonadism 4 with or without anosmia.9
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PROK2 CL E G H6067518455ORPHA:478Kallmann syndromeHP:0040281 - Very frequent9
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent9
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PROKR2 CL E G H12867415836OMIM:244200Hypogonadotropic hypogonadism 3 with or without anosmia.34
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PROKR2 CL E G H12867415836ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PROP1 CL E G H56269455ORPHA:95494Combined pituitary hormone deficiencies, genetic formsHP:0040282 - Frequent54
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PROP1 CL E G H56269455ORPHA:226307Hypothyroidism due to deficient transcription factors involved in pituitary development or functionHP:0040283 - Occasional54
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PROP1 CL E G H56269455ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent54
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040283 - Occasional665
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040283 - Occasional40
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PTPN11 CL E G H57819644ORPHA:648Noonan syndromeHP:0040281 - Very frequent291
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PWAR1 CL E G H14562430089OMIM:176270Prader-Willi syndrome
HP:0000044HP:0000044Hypogonadotropic hypogonadism0PWRN1 CL E G H79111433235OMIM:176270Prader-Willi syndrome
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RAB3GAP1 CL E G H2293017063ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040281 - Very frequent90
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RAB3GAP1 CL E G H2293017063OMIM:619420MARTSOLF SYNDROME 2; MARTS290
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RAB3GAP2 CL E G H2578217168ORPHA:1387Cataract-intellectual disability-hypogonadism syndromeHP:0040281 - Very frequent135
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RAB3GAP2 CL E G H2578217168OMIM:212720Martsolf syndrome 1.135
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RAD51 CL E G H58889817ORPHA:238722Familial congenital mirror movementsHP:0040284 - Very rare9
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RAF1 CL E G H58949829ORPHA:648Noonan syndromeHP:0040281 - Very frequent212
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RASA2 CL E G H59229872ORPHA:648Noonan syndromeHP:0040281 - Very frequent3
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RBM28 CL E G H5513121863OMIM:612079Alopecia, neurologic defects, and endocrinopathy syndrome1
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RBM28 CL E G H5513121863ORPHA:157954ANE syndromeHP:0040282 - Frequent1
HP:0000044HP:0000044Hypogonadotropic hypogonadism0REV3L CL E G H59809968ORPHA:570Moebius syndromeHP:0040283 - Occasional3
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RFC2 CL E G H59829970ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RIT1 CL E G H601610023ORPHA:648Noonan syndromeHP:0040281 - Very frequent39
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RNF216 CL E G H5447621698OMIM:212840Cerebellar ataxia and hypogonadotropic hypogonadism.10
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RNF216 CL E G H5447621698ORPHA:1173Cerebellar ataxia-hypogonadism syndromeHP:0040281 - Very frequent10
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RNU4ATAC CL E G H10015168334016ORPHA:353298Roifman syndromeHP:0040282 - Frequent15
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RRAS CL E G H623710447ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RRAS2 CL E G H2280017271ORPHA:648Noonan syndromeHP:0040281 - Very frequent1
HP:0000044HP:0000044Hypogonadotropic hypogonadism0RRM2B CL E G H5048417296ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional125
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SEMA3A CL E G H1037110723ORPHA:478Kallmann syndromeHP:0040281 - Very frequent14
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SEMA3E CL E G H972310727ORPHA:138CHARGE syndromeHP:0040281 - Very frequent16
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SEMA3E CL E G H972310727OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.16
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SIM1 CL E G H649210882ORPHA:398079SIM1-related Prader-Willi-like syndromeHP:0040282 - Frequent40
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SIX6 CL E G H499010892OMIM:206900Microphthalmia, syndromic 3.20
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SMARCB1 CL E G H659811103ORPHA:2495MeningiomaHP:0040282 - Frequent87
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SMARCE1 CL E G H660511109ORPHA:2495MeningiomaHP:0040282 - Frequent47
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SMCHD1 CL E G H2334729090OMIM:603457Bosma arhinia microphthalmia syndrome174
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SMO CL E G H660811119ORPHA:2495MeningiomaHP:0040282 - Frequent22
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SNORD115-1 CL E G H33843333020OMIM:176270Prader-Willi syndrome
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SNORD116-1 CL E G H10003341333067OMIM:176270Prader-Willi syndrome
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SNRPN CL E G H663811164ORPHA:177910Prader-Willi syndrome due to imprinting mutationHP:0040284 - Very rare37
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SNRPN CL E G H663811164ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15HP:0040282 - Frequent37
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SNRPN CL E G H663811164ORPHA:177901Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1HP:0040282 - Frequent37
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SNRPN CL E G H663811164ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2HP:0040282 - Frequent37
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SNRPN CL E G H663811164ORPHA:177907Prader-Willi syndrome due to translocationHP:0040282 - Frequent37
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SOS1 CL E G H665411187ORPHA:648Noonan syndromeHP:0040281 - Very frequent315
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SOS2 CL E G H665511188ORPHA:648Noonan syndromeHP:0040281 - Very frequent30
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SOX10 CL E G H666311190ORPHA:478Kallmann syndromeHP:0040281 - Very frequent61
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SOX2 CL E G H665711195OMIM:206900Microphthalmia, syndromic 3.33
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SOX3 CL E G H665811199ORPHA:90695Non-acquired panhypopituitarismHP:0040282 - Frequent24
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SOX9 CL E G H666211204ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent109
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SPRED2 CL E G H20073417722ORPHA:648Noonan syndromeHP:0040281 - Very frequent
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SPRY4 CL E G H8184815533OMIM:615266Hypogonadotropic hypogonadism 17 with or without anosmia5
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SPRY4 CL E G H8184815533OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.5
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SPRY4 CL E G H8184815533ORPHA:478Kallmann syndromeHP:0040281 - Very frequent5
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent5
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SRA1 CL E G H1001111281OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SRY CL E G H673611311ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent23
HP:0000044HP:0000044Hypogonadotropic hypogonadism0STX1A CL E G H680411433ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040283 - Occasional124
HP:0000044HP:0000044Hypogonadotropic hypogonadism0SUFU CL E G H5168416466ORPHA:2495MeningiomaHP:0040282 - Frequent124
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TAC3 CL E G H686611521OMIM:614839Hypogonadotropic hypogonadism 10 with or without anosmia.6
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TACR3 CL E G H687011528OMIM:614840Hypogonadotropic hypogonadism 11 with or without anosmia34
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TACR3 CL E G H687011528ORPHA:478Kallmann syndromeHP:0040281 - Very frequent34
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TBL2 CL E G H2660811586ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TCF12 CL E G H693811623OMIM:619718HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA; HH2628
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TERT CL E G H701511730ORPHA:2495MeningiomaHP:0040282 - Frequent238
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TFR2 CL E G H703611762OMIM:604250Hemochromatosis, type 367
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TMEM270 CL E G H13588623018ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TP63 CL E G H862615979OMIM:604292Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3.140
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TRAF7 CL E G H8423120456ORPHA:2495MeningiomaHP:0040282 - Frequent
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TRNF CL E G H45587481ORPHA:550MELASHP:0040284 - Very rare
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TRNH CL E G H45647487ORPHA:550MELASHP:0040284 - Very rare
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TRNL1 CL E G H45677490ORPHA:550MELASHP:0040284 - Very rare
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TRNQ CL E G H45727495ORPHA:550MELASHP:0040284 - Very rare
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TRNS1 CL E G H45747497ORPHA:550MELASHP:0040284 - Very rare
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TRNS2 CL E G H45757498ORPHA:550MELASHP:0040284 - Very rare
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TRNW CL E G H45787501ORPHA:550MELASHP:0040284 - Very rare
HP:0000044HP:0000044Hypogonadotropic hypogonadism0TYMP CL E G H18903148ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathyHP:0040283 - Occasional138
HP:0000044HP:0000044Hypogonadotropic hypogonadism0VPS37D CL E G H15538218287ORPHA:904Williams syndromeHP:0040283 - Occasional
HP:0000044HP:0000044Hypogonadotropic hypogonadism0WDR11 CL E G H5571713831OMIM:614858Hypogonadotropic hypogonadism 14 with or without anosmia10
HP:0000044HP:0000044Hypogonadotropic hypogonadism0WDR11 CL E G H5571713831OMIM:146110Hypogonadotropic hypogonadism 7 without anosmia.10
HP:0000044HP:0000044Hypogonadotropic hypogonadism0WDR11 CL E G H5571713831ORPHA:478Kallmann syndromeHP:0040281 - Very frequent10
HP:0000044HP:0000044Hypogonadotropic hypogonadism0WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent10
HP:0000044HP:0000044Hypogonadotropic hypogonadism0WT1 CL E G H749012796ORPHA:24246,XY complete gonadal dysgenesisHP:0040281 - Very frequent177


Genes (173) :AIP AKT1 ANK1 ANOS1 AXL BAP1 BAZ1B BCL7B BMP2 BMP6 BRAF BUD23 CBL CBX2 CCDC141 CDH23 CHD4 CHD7 CLIP2 COX1 COX2 COX3 CPE CTDP1 CTNNB1 DCAF17 DCC DHH DHX37 DMRT1 DMXL2 DNAJC30 DNAL4 DUSP6 EIF4H ELN FEZF1 FGF17 FGF8 FGFR1 FKBP6 FLRT3 FOXA2 FSHB GJB2 GLI2 GNRH1 GNRHR GPR101 GTF2I GTF2IRD1 GTF2IRD2 HDAC8 HERC2 HESX1 HFE HJV HS6ST1 HSD17B3 IL17RD IPW KISS1 KISS1R KRAS LAS1L LHB LHX3 LHX4 LIG3 LIMK1 LZTR1 MAGEL2 MAP3K1 MEN1 METTL27 MKRN3 MKRN3-AS1 MLXIPL MRAS NCF1 ND1 ND4 ND5 ND6 NDN NDNF NF2 NPAP1 NR0B1 NR5A1 NRAS NSMF NTN1 OCA2 OTX2 PCSK1 PDGFB PIK3CA PLXND1 PMM2 PNPLA6 POLA1 POLG POLR3A POLR3B POLR3K POU1F1 PRDM13 PROK2 PROKR2 PROP1 PTCH1 PTCH2 PTPN11 PWAR1 PWRN1 RAB3GAP1 RAB3GAP2 RAD51 RAF1 RASA2 RBM28 REV3L RFC2 RIT1 RNF216 RNU4ATAC RRAS RRAS2 RRM2B SEMA3A SEMA3E SIM1 SIX6 SMARCB1 SMARCE1 SMCHD1 SMO SNORD115-1 SNORD116-1 SNRPN SOS1 SOS2 SOX10 SOX2 SOX3 SOX9 SPRED2 SPRY4 SRA1 SRY STX1A SUFU TAC3 TACR3 TBL2 TCF12 TERT TFR2 TMEM270 TP63 TRAF7 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TYMP VPS37D WDR11 WT1

Diseases (84) :ORPHA:963 ORPHA:2965 ORPHA:2495 ORPHA:251066 OMIM:308700 ORPHA:478 OMIM:146110 ORPHA:904 OMIM:235200 ORPHA:465508 ORPHA:54595 ORPHA:648 ORPHA:242 ORPHA:91347 OMIM:617159 OMIM:214800 ORPHA:138 OMIM:612370 ORPHA:432 ORPHA:550 OMIM:619326 OMIM:604168 ORPHA:48431 OMIM:241080 ORPHA:238722 ORPHA:453533 OMIM:615269 OMIM:612702 OMIM:147950 ORPHA:95494 ORPHA:52901 ORPHA:494 OMIM:614841 ORPHA:3459 OMIM:176270 ORPHA:226307 OMIM:602390 ORPHA:752 OMIM:614842 OMIM:614837 OMIM:228300 ORPHA:298 ORPHA:177910 ORPHA:98754 ORPHA:177901 ORPHA:177904 OMIM:300200 OMIM:614838 OMIM:600955 ORPHA:570 ORPHA:79318 ORPHA:1180 OMIM:215470 ORPHA:1173 OMIM:275400 OMIM:301030 OMIM:607694 ORPHA:447896 ORPHA:3455 OMIM:614381 OMIM:619310 OMIM:619761 OMIM:610628 OMIM:244200 ORPHA:90695 ORPHA:377 ORPHA:1387 OMIM:619420 OMIM:212720 OMIM:612079 ORPHA:157954 OMIM:212840 ORPHA:353298 ORPHA:398079 OMIM:206900 OMIM:603457 ORPHA:177907 OMIM:615266 OMIM:614839 OMIM:614840 OMIM:619718 OMIM:604250 OMIM:604292 OMIM:614858
 

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