loading...| Preferred Name | Smith Magenis syndrome | |
| Synonyms |
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| Definitions |
a rare chromosomal disorder characterized by abnormalities of the craniofacial area (brachycephaly, prognathism, cleft palate), delays in the acquisition of skills requiring the coordination of mental and muscular activities, mental retardation; most affected individuals experience speech delays that may occur in association with hearing impairment; behavioral abnormalities may include hyperactivity and self-destructive behavior. |
|
| ID |
http://purl.bioontology.org/ontology/CSP/5002-0024 |
|
| cui |
C0795864 |
|
| definition |
a rare chromosomal disorder characterized by abnormalities of the craniofacial area (brachycephaly, prognathism, cleft palate), delays in the acquisition of skills requiring the coordination of mental and muscular activities, mental retardation; most affected individuals experience speech delays that may occur in association with hearing impairment; behavioral abnormalities may include hyperactivity and self-destructive behavior. |
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| DID |
5002-0024 |
|
| Inverse of RB |
http://purl.bioontology.org/ontology/CSP/0725-7823 http://purl.bioontology.org/ontology/CSP/1840-2225 |
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| notation |
5002-0024 |
|
| prefLabel |
Smith Magenis syndrome |
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| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/CSP/0725-7823 http://purl.bioontology.org/ontology/CSP/1840-2225 |