Ovarian dysgenesis 7

Preferred Label : Ovarian dysgenesis 7;

Symbol : ODG7;

CISMeF acronym : ODG7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the mitochondrial ribosomal protein-S22 gene (MRPS22, 605810.0003);

Prefixed ID : #618117;

Details

Origin ID

618117;

UMLS CUI

C4748263;

Currated CISMeF NLP mapping
- ovarian dysgenesis 7 [DO Concept]
DO Cross reference
- ovarian dysgenesis 7 [DO Concept]
Genes related to phenotype
- Mitochondrial ribosomal protein s22 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Delayed puberty [HPO term]
- Delayed skeletal maturation [HPO term]
- Hypoplasia of the uterus [HPO term]
- Primary amenorrhea [HPO term]
ORDO concept(s)
- 46,XX gonadal dysgenesis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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