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loading...| Preferred Name |
Coproporphyria, Hereditary [Disease/Finding] |
|
| Synonyms |
Coproporphyria, Hereditary |
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| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000011116 |
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| altLabel |
Coproporphyria, Hereditary Coproporphyrinogen Oxidase Deficiency Hereditary Coproporphyria |
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| cui |
C0162531 |
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| MESH DEFINITION |
An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS. |
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| MESH DUI |
D046349 |
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| MeSH name |
Coproporphyria, Hereditary |
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| MESH UI |
M0025971 |
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| NDFRT kind |
DISEASE_KIND |
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| notation |
N0000011116 |
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| NUI |
N0000011116 |
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| prefLabel |
Coproporphyria, Hereditary [Disease/Finding] |
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| SNOMED CID |
7425008 |
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| tui |
T047 |
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| subClassOf |
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