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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Abnormal ovarian physiology (HP:0031066)help
Parent Node:
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Hypogonadism (HP:0000135)help
..Starting node
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Female hypogonadism (HP:0000134)help
Term ID: 134
Name: Female hypogonadism
Synonym: Hypogonadism, female
Definition: Decreased functionality of the female gonads, i.e., of the ovary.
Comments:
Reference: HP:0000134
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypergonadotropic hypogonadism (HP:0000815) help
..expandHypogonadotropic hypogonadism (HP:0000044) 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:0000134HP:0000134Female hypogonadism0AIP CL E G H9049358ORPHA:2965ProlactinomaHP:0040281 - Very frequent95
HP:0000134HP:0000134Female hypogonadism0AIRE CL E G H326360OMIM:240300AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS192
HP:0000134HP:0000134Female hypogonadism0ATM CL E G H472795OMIM:208900ATAXIA-TELANGIECTASIA.3267
HP:0000134HP:0000134Female hypogonadism0BMP4 CL E G H6521071OMIM:607932Microphthalmia, syndromic 638
HP:0000134HP:0000134Female hypogonadism0CDH23 CL E G H6407213733ORPHA:2965ProlactinomaHP:0040281 - Very frequent636
HP:0000134HP:0000134Female hypogonadism0CDH23 CL E G H6407213733ORPHA:91347TSH-secreting pituitary adenomaHP:0040282 - Frequent636
HP:0000134HP:0000134Female hypogonadism0CHD7 CL E G H5563620626ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent515
HP:0000134HP:0000134Female hypogonadism0DUSP6 CL E G H18483072ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent4
HP:0000134HP:0000134Female hypogonadism0FGF17 CL E G H88223673ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0000134HP:0000134Female hypogonadism0FGF8 CL E G H22533686ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent17
HP:0000134HP:0000134Female hypogonadism0FGFR1 CL E G H22603688ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent172
HP:0000134HP:0000134Female hypogonadism0FSHB CL E G H24883964ORPHA:52901Isolated follicle stimulating hormone deficiencyHP:0040280 - Obligate23
HP:0000134HP:0000134Female hypogonadism0GNRH1 CL E G H27964419ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent15
HP:0000134HP:0000134Female hypogonadism0GNRHR CL E G H27984421ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent92
HP:0000134HP:0000134Female hypogonadism0HS6ST1 CL E G H93945201ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent8
HP:0000134HP:0000134Female hypogonadism0KISS1 CL E G H38146341ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent3
HP:0000134HP:0000134Female hypogonadism0KISS1R CL E G H846344510ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent14
HP:0000134HP:0000134Female hypogonadism0LMNA CL E G H40006636ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent645
HP:0000134HP:0000134Female hypogonadism0MEN1 CL E G H42217010ORPHA:2965ProlactinomaHP:0040281 - Very frequent462
HP:0000134HP:0000134Female hypogonadism0NSMF CL E G H2601229843ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0000134HP:0000134Female hypogonadism0PRLR CL E G H56189446ORPHA:397685Familial hyperprolactinemiaHP:0040283 - Occasional2
HP:0000134HP:0000134Female hypogonadism0PROK2 CL E G H6067518455ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent9
HP:0000134HP:0000134Female hypogonadism0PROKR2 CL E G H12867415836ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0000134HP:0000134Female hypogonadism0SPRY4 CL E G H8184815533ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent5
HP:0000134HP:0000134Female hypogonadism0TAC3 CL E G H686611521ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent6
HP:0000134HP:0000134Female hypogonadism0TACR3 CL E G H687011528ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent34
HP:0000134HP:0000134Female hypogonadism0WDR11 CL E G H5571713831ORPHA:432Normosmic congenital hypogonadotropic hypogonadismHP:0040281 - Very frequent10
HP:0000134HP:0000134Female hypogonadism0ZMPSTE24 CL E G H1026912877ORPHA:740Hutchinson-Gilford progeria syndromeHP:0040282 - Frequent83


Genes (27) :AIP AIRE ATM BMP4 CDH23 CHD7 DUSP6 FGF17 FGF8 FGFR1 FSHB GNRH1 GNRHR HS6ST1 KISS1 KISS1R LMNA MEN1 NSMF PRLR PROK2 PROKR2 SPRY4 TAC3 TACR3 WDR11 ZMPSTE24

Diseases (9) :ORPHA:2965 OMIM:240300 OMIM:208900 OMIM:607932 ORPHA:91347 ORPHA:432 ORPHA:52901 ORPHA:740 ORPHA:397685
 

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