Ovarian dysgenesis 3

Preferred Label : Ovarian dysgenesis 3;

Symbol : ODG3;

CISMeF acronym : ODG3;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the PSMC3-interacting protein gene (PSMC3IP, 608665.0001);

Prefixed ID : #614324;

Details

Origin ID

614324;

UMLS CUI

C3280471;

Currated CISMeF NLP mapping
- ovarian dysgenesis 3 [DO Concept]
DO Cross reference
- ovarian dysgenesis 3 [DO Concept]
Genes related to phenotype
- Psmc3-interacting protein [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Primary amenorrhea [HPO term]
ORDO concept(s)
- 46,XX gonadal dysgenesis [ORDO Disease]
See also inter- (CISMeF)
- PSMC3IP wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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