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loading...| Preferred Name |
Hereditary Coproporphyria |
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| Synonyms |
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| Definitions |
An autosomal dominant inherited disorder of porphyrin metabolism caused by deficiency of the enzyme coproporphyrinogen oxidase. It results in neurologic damage and can include abdominal pain, constipation and psychiatric manifestations. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C84759 |
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| code |
C84759 |
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| Contributing_Source |
Cellosaurus |
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| definition |
An autosomal dominant inherited disorder of porphyrin metabolism caused by deficiency of the enzyme coproporphyrinogen oxidase. It results in neurologic damage and can include abdominal pain, constipation and psychiatric manifestations. |
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| in_subset | ||
| label |
Hereditary Coproporphyria |
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| Preferred_Name |
Hereditary Coproporphyria |
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| prefixIRI |
NCIT:C84759 |
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| prefLabel |
Hereditary Coproporphyria |
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| Semantic_Type |
Disease or Syndrome |
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| UMLS_CUI |
C0162531 |
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| subClassOf |
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