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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-7731
http://purl.bioontology.org/ontology/CSP/1849-7731
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|---|---|
| Preferred Name | Prader Willi syndrome |
| Definitions |
congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity, and mental retardation; chromosomal disorder usually associated with a deletion of the proximal portion of the long arm of chromosome 15.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | congenital neurobehavioral disorder characterized by rounded face, low forehead, almond shaped eyes, squinting, hypogonadism, hypotonia, insatiable appetite leading to obesity, and mental retardation; chromosomal disorder usually associated with a deletion of the proximal portion of the long arm of chromosome 15. |
|---|---|
| prefLabel | Prader Willi syndrome
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| type | |
| tui | T047
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| notation | 1849-7731
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| Semantic type UMLS property | |
| DID | 1849-7731
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| cui | C0032897
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| Inverse of RB | |
| subClassOf |
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