Ovarian dysgenesis 6

Preferred Label : Ovarian dysgenesis 6;

Symbol : ODG6;

CISMeF acronym : ODG6;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the 107-kD nucleoporin gene (NUP107, 607617.0005);

Prefixed ID : #618078;

Details

Origin ID

618078;

UMLS CUI

C4748084;

Currated CISMeF NLP mapping
- ovarian dysgenesis 6 [DO Concept]
DO Cross reference
- ovarian dysgenesis 6 [DO Concept]
Genes related to phenotype
- Nucleoporin, 107-kd [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Hypoplasia of the uterus [HPO term]
ORDO concept(s)
- 46,XX gonadal dysgenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ovarian dysgenesis 6 [DO Concept]

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