Preferred Name |
Hereditary Coproporphyria |
|
Synonyms |
Hereditary Coproporphyria |
|
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. |
|
ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84759 |
|
code |
C84759 |
|
Concept_In_Subset | ||
Contributing_Source |
Cellosaurus |
|
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. |
|
FULL_SYN |
Hereditary Coproporphyria |
|
label |
Hereditary Coproporphyria |
|
Preferred_Name |
Hereditary Coproporphyria |
|
prefixIRI |
Thesaurus:C84759 |
|
Semantic_Type |
Disease or Syndrome |
|
UMLS_CUI |
C0162531 |
|
subClassOf |
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