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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-1861
http://purl.bioontology.org/ontology/CSP/1849-1861
|
|---|---|
| Preferred Name | oculocerebrorenal syndrome |
| Definitions |
sex-linked recessive disorder of amino acid transport which affects the eye, nervous system, and kidney; manifestations include cataract, glaucoma, aminoaciduria, hypophosphatemic rickets, developmental delay, myopathy, peripheral neuropathy, and hypotonia; associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase.
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| Synonyms |
cerebrooculorenal syndrome
oculocerebrorenal syndrome of Lowe
Lowe syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | sex-linked recessive disorder of amino acid transport which affects the eye, nervous system, and kidney; manifestations include cataract, glaucoma, aminoaciduria, hypophosphatemic rickets, developmental delay, myopathy, peripheral neuropathy, and hypotonia; associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase. |
|---|---|
| altLabel |
cerebrooculorenal syndrome
oculocerebrorenal syndrome of Lowe
Lowe syndrome
|
| prefLabel | oculocerebrorenal syndrome
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| Inverse of RO | |
| type | |
| tui | T047
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| notation | 1849-1861
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| Semantic type UMLS property | |
| DID | 1849-1861
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| cui | C0028860
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| Inverse of RB | |
| subClassOf |
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