Ovarian dysgenesis 8

Preferred Label : Ovarian dysgenesis 8;

Symbol : ODG8;

CISMeF acronym : ODG8;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the estrogen receptor-2 gene (ESR2, 601663.0001);

Prefixed ID : #618187;

Détails

Origin ID

618187;

UMLS CUI

C4748626;

Automatic exact mappings (from CISMeF team)
- ESR2 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- ovarian dysgenesis 8 [DO Concept]
DO Cross reference
- ovarian dysgenesis 8 [DO Concept]
Genes related to phenotype
- Estrogen receptor 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Elevated circulating follicle stimulating hormone level [HPO term]
- Elevated circulating luteinizing hormone level [HPO term]
- Eunuchoid habitus [HPO term]
- Hypoplastic labia majora [HPO term]
- Osteoporosis [HPO term]
- Primary amenorrhea [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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