loading...| Preferred Name |
Hereditary Coproporphyria |
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| Synonyms |
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| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Hereditary_Coproporphyria |
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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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| isDefinedBy |
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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| label |
Hereditary Coproporphyria |
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| prefixIRI |
Thesaurus:Hereditary_Coproporphyria |
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| prefLabel |
Hereditary Coproporphyria |
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| subClassOf |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Porphyria http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Rare_Non-Neoplastic_Disorder |