Hypogonadotropic Hypogonadism with Adrenal Hypoplasia Congenita

Preferred Label : Hypogonadotropic Hypogonadism with Adrenal Hypoplasia Congenita;

Alternative definition : NICHD: Hypogonadotropic hypogonadism with congenital adrenal hypoplasia associated with mutation(s) in the NR0B1 gene (on the X chromosome).;

NCI Metathesaurus CUI : CL514657;

Details

Origin ID

C131857;

UMLS CUI

C4330340;

Has associated anatomic sites
- Endocrine Gland [NCIt concept]
- Endocrine System [NCIt concept]
- 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_finding
- Congenital Lesion [NCIt concept]
disease_has_primary_anatomic_site
- Endocrine System [NCIt concept]
- Genitourinary System [NCIt concept]
- Gonad [NCIt concept]
- Reproductive System [NCIt concept]
disease_mapped_to_gene
- NR0B1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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