Ovarian dysgenesis 1

Preferred Label : Ovarian dysgenesis 1;

Symbol : ODG1;

CISMeF acronym : ODG1; XXGD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Gonadal dysgenesis, XX type; Ovarian dysgenesis, hypergonadotropic, with normal karyotype; Ovarian failure, hypergonadotropic; XXGD; Ovarian dysgenesis, hypergonadotropic, autosomal recessive; Xx gonadal dysgenesis;

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). - Genetic Heterogeneity of Ovarian Dysgenesis Even in its isolated form, 46,XX ovarian dysgenesis is etiologically heterogeneous. See ODG2 (300510) for an X-linked form of the disorder that is caused by mutation in the BMP15 gene (300247). See also ovarian dysgenesis with sensorineural deafness, or Perrault syndrome (233400). ODG3 (614324) is caused by mutation in the PSMC3IP gene (608665) on chromosome 17q12-q21.;

Inheritance : Autosomal recessive;

Prefixed ID : #233300;

Details

Origin ID

233300;

UMLS CUI

C0949595;

Currated CISMeF NLP mapping
- 46 XX gonadal dysgenesis [DO Concept]
- 46,XX Gonadal Dysgenesis [NCIt concept]
- 46,XX gonadal dysgenesis [ICD-11 Subcategory]
- 46,XX gonadal dysgenesis [ORDO Disease]
- Pure gonadal dysgenesis 46,XX (disorder) [SNOMED CT concept]
- gonadal dysgenesis, 46,XX [MeSH concept]
- gonadal dysgenesis, 46,xx [MeSH Descriptor]
- pure gonadal dysgenesis 46,xx [SNOMED Notion]
- pure gonadal dysgenesis, 46, XX [MeSH concept]
DO Cross reference
- ovarian dysgenesis 1 [DO Concept]
Genes related to phenotype
- Follicle-stimulating hormone receptor [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Gonadal dysgenesis [HPO term]
- Increased circulating gonadotropin level [HPO term]
- Osteoporosis [HPO term]
- Primary amenorrhea [HPO term]
ORDO concept(s)
- 46,XX gonadal dysgenesis [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- 46 XX gonadal dysgenesis [DO Concept]
- 46,XX Gonadal Dysgenesis [NCIt concept]
- gonadal dysgenesis, 46,XX [MeSH concept]
- gonadal dysgenesis, 46,xx [MeSH Descriptor]
Validated automatic mappings to BTNT
- ovarian dysgenesis 1 [DO Concept]

Keyword's position in hierarchy(ies) :

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