Ovarian dysgenesis 2

Preferred Label : Ovarian dysgenesis 2;

Symbol : ODG2;

CISMeF acronym : ODG2; POF4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Ovarian dysgenesis, hypergonadotropic, X-linked; Ovarian failure, hypergonadotropic, due to ovarian dysgenesis;

Included titles and symbols : Premature ovarian failure 4; POF4;

Description : Hypergonadotropic ovarian failure is a heterogeneous disorder that, in the most severe forms, is a result of ovarian dysgenesis. Ovarian dysgenesis accounts for about half the cases of primary amenorrhea (Timmreck and Reindollar, 2003). Most cases are associated with major X chromosome abnormalities. Accordingly, genetic studies have identified several loci at Xq and Xp11.2-p.22.1 whose functions are relevant for ovarian development (Zinn et al., 1998; Simpson and Rajkovic, 1999; Marozzi et al., 2000).;

Inheritance : X-linked;

Molecular basis : Caused by mutation in the bone morphogenetic protein 15 gene (BMP15, 300247.0001);

Prefixed ID : #300510;

Details

Origin ID

300510;

UMLS CUI

C1845294;

Automatic exact mappings (from CISMeF team)
- premature ovarian failure 4 [MeSH concept]
Currated CISMeF NLP mapping
- ovarian dysgenesis 2 [DO Concept]
- ovarian dysgenesis 2 [MeSH concept]
- ovarian dysgenesis 2 [MeSH Supplementary Concept]
DO Cross reference
- ovarian dysgenesis 2 [DO Concept]
Genes related to phenotype
- Bone morphogenetic protein 15 [OMIM gene]
HPO term(s)
- Abnormality of the uterus [HPO term]
- Delayed puberty [HPO term]
- Gonadal hypoplasia [HPO term]
- Hirsutism [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hypoplasia of the uterus [HPO term]
- Premature ovarian insufficiency [HPO term]
- Primary amenorrhea [HPO term]
- Secondary amenorrhea [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- 46,XX gonadal dysgenesis [ORDO Disease]
See also inter- (CISMeF)
- BMP15 wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ovarian dysgenesis 2 [MeSH Supplementary Concept]
- ovarian dysgenesis 2 [MeSH concept]

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