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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1254-7913
http://purl.bioontology.org/ontology/CSP/1254-7913
|
|---|---|
| Preferred Name | Bloom syndrome |
| Definitions |
autosomal recessive disorder characterized by telangiectatic erythema of the face, photosensitivity, dwarfism, and other abnormalities.
|
| Synonyms |
Bloom-Torre-Machacek syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal recessive disorder characterized by telangiectatic erythema of the face, photosensitivity, dwarfism, and other abnormalities. |
|---|---|
| altLabel | Bloom-Torre-Machacek syndrome
|
| prefLabel | Bloom syndrome
|
| Inverse of RO | |
| type | |
| tui | T047
|
| notation | 1254-7913
|
| Semantic type UMLS property | |
| DID | 1254-7913
|
| cui | C0005859
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |