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Last uploaded:
September 25, 2013
| Id | http://purl.bioontology.org/ontology/CSP/1849-7617
http://purl.bioontology.org/ontology/CSP/1849-7617
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|---|---|
| Preferred Name | congenital erythropoietic porphyria |
| Definitions |
autosomal recessive porphyria characterized by splenomegaly, photosensitivity, hemolytic anemia, and the appearance of red urine in early infancy; results from increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow normoblasts.
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| Synonyms |
Gunther's disease
erythropoietic uroporphyria
congenital photosensitive porphyria
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | autosomal recessive porphyria characterized by splenomegaly, photosensitivity, hemolytic anemia, and the appearance of red urine in early infancy; results from increased synthesis of uroporphyrinogen I relative to uroporphyrinogen III in bone marrow normoblasts. |
|---|---|
| altLabel |
Gunther's disease
erythropoietic uroporphyria
congenital photosensitive porphyria
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| prefLabel | congenital erythropoietic porphyria
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| Inverse of RO | |
| type | |
| tui | T047
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| notation | 1849-7617
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| Semantic type UMLS property | |
| DID | 1849-7617
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| cui | C0162530
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| Inverse of RB | |
| subClassOf |
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