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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1254-8011
http://purl.bioontology.org/ontology/CSP/1254-8011
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|---|---|
| Preferred Name | cri du chat syndrome |
| Definitions |
infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, mental retardation, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia; caused by a deletion of the short arm of chromosome 5.
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| Synonyms |
cat's cry syndrome
crying cat syndrome
chromosome 5 short arm deletion syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, mental retardation, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia; caused by a deletion of the short arm of chromosome 5. |
|---|---|
| altLabel |
cat's cry syndrome
crying cat syndrome
chromosome 5 short arm deletion syndrome
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| prefLabel | cri du chat syndrome
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| Inverse of RO | |
| type | |
| tui | T047
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| notation | 1254-8011
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| Semantic type UMLS property | |
| DID | 1254-8011
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| cui | C0010314
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| Inverse of RB | |
| subClassOf |
| Delete | Subject | Author | Type | Created |
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| No notes to display |