Follicle Stimulating Hormone Receptor Deficiency

Preferred Label : Follicle Stimulating Hormone Receptor Deficiency;

NCIt synonyms : FSH Receptor Deficiency;

NCIt definition : Reduced or absent function of the receptor for follicle stimulating hormone associated with a mutation in the FSHR gene.;

Alternative definition : NICHD: A condition caused by a functional disturbance of the gonadotropin receptors in the ovarian follicles, which can result in primary or secondary amenorrhea, and which is resistant to exogenous gonadotropin stimulation.;

Details

Origin ID

C120370;

UMLS CUI

C4054941;

Has associated anatomic sites
- Genitourinary System [NCIt concept]
- Gonad [NCIt concept]
- Reproductive System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Genitourinary System [NCIt concept]
- Gonad [NCIt concept]
- Reproductive System [NCIt concept]
disease_mapped_to_gene
- FSHR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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