Ovarian dysgenesis 4

Preferred Label : Ovarian dysgenesis 4;

Symbol : ODG4;

CISMeF acronym : ODG4;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the minichromosome maintenance deficient domain containing-1 gene (MCMDC1, 610098.0001);

Prefixed ID : #616185;

Details

Origin ID

616185;

UMLS CUI

C4015409;

Automatic exact mappings (from CISMeF team)
- MCM9 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- 46,XX ovarian dysgenesis, short stature syndrome (disorder) [SNOMED CT concept]
- ovarian dysgenesis 4 [DO Concept]
DO Cross reference
- ovarian dysgenesis 4 [DO Concept]
Genes related to phenotype
- Minichromosome maintenance complex component 9 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased body weight [HPO term]
- Delayed skeletal maturation [HPO term]
- Primary amenorrhea [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- 46,XX ovarian dysgenesis-short stature syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 46,XX ovarian dysgenesis, short stature syndrome (disorder) [SNOMED CT concept]

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