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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/615363
http://purl.bioontology.org/ontology/OMIM/615363
|
|---|---|
| Preferred Name | ESTROGEN RESISTANCE |
| Synonyms |
ESTRR
ESTROGEN INSENSITIVITY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
ESTRR
ESTROGEN INSENSITIVITY
|
|---|---|
| prefLabel | ESTROGEN RESISTANCE
|
| Gene Symbol |
ESR
ESTRR
ESR1
|
| Scope Statement | Caused by mutation in the estrogen receptor-1 gene (ESR1, 133430.0002) [MOLECULAR BASIS]
Based on 2 reported patients, 1 male and 1 female (last curated August 2013) [MISCELLANEOUS]
|
| type | |
| Has manifestation |
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|
| tui | T047
|
| Gene Locus | 6q25.1
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 615363
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui | C3809250
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |