Link to this page
Computer Retrieval of Information on Scientific Projects Thesaurus
Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/5001-0009
http://purl.bioontology.org/ontology/CSP/5001-0009
|
|---|---|
| Preferred Name | Usher syndrome |
| Definitions |
hereditary disorder believed to occur in two forms: (1) characterized by congenital deafness and severe retinitis pigmentosa, and (2) in which the inner ear and retina are less severely affected; most cases are transmitted as autosomal recessive trait, but some forms are X-linked.
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | hereditary disorder believed to occur in two forms: (1) characterized by congenital deafness and severe retinitis pigmentosa, and (2) in which the inner ear and retina are less severely affected; most cases are transmitted as autosomal recessive trait, but some forms are X-linked. |
|---|---|
| prefLabel | Usher syndrome
|
| Inverse of RO | |
| type | |
| tui | T047
|
| notation | 5001-0009
|
| Semantic type UMLS property | |
| DID | 5001-0009
|
| cui | C0271097
|
| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |