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Last uploaded:
August 28, 2024
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| Preferred Name | cri du chat syndrome | |
| Synonyms |
cat's cry syndrome crying cat syndrome chromosome 5 short arm deletion syndrome |
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| 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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| ID |
http://purl.bioontology.org/ontology/CSP/1254-8011 |
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| altLabel |
cat's cry syndrome crying cat syndrome chromosome 5 short arm deletion syndrome
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|
| cui |
C0010314
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|
| 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.
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| DID |
1254-8011
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| Inverse of RB | ||
| Inverse of RO | ||
| notation |
1254-8011
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|
| prefLabel |
cri du chat syndrome
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|
| tui |
T047
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| subClassOf |
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