Estrogen resistance

Preferred Label : Estrogen resistance;

Symbol : ESTRR;

CISMeF acronym : ESTRR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Estrogen insensitivity;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the estrogen receptor-1 gene (ESR1, 133430.0002);

Prefixed ID : #615363;

Details

Origin ID

615363;

UMLS CUI

C3809250;

Automatic exact mappings (from CISMeF team)
- Estrogen resistance syndrome [ORDO Disease]
Genes related to phenotype
- Estrogen receptor 1 [OMIM gene]
HPO term(s)
- Acanthosis nigricans [HPO term]
- Acne [HPO term]
- Autosomal recessive inheritance [HPO term]
- Delayed skeletal maturation [HPO term]
- Glucose intolerance [HPO term]
- Hyperinsulinemia [HPO term]
- Hypoplasia of the uterus [HPO term]
- Impaired glucose tolerance [HPO term]
- Osteopenia [HPO term]
- Primary amenorrhea [HPO term]
- obsolete Glucose intolerance [HPO term]
ORDO concept(s)
- Estrogen resistance syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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