Preferred Name |
Porphyria |
|
Synonyms |
|
|
ID |
http://www.semanticweb.org/administrator/ontologies/2022/0/untitled-ontology-34#OWLClassbbc84b2b_d2fb_44e0_bc4b_b63e390a0b38 |
|
Chinese |
卟啉病 |
|
label |
Porphyria |
|
MESH_Definition |
A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues. |
|
NCIt_Definition |
A group of genetic or acquired metabolic disorders characterized by defects in the enzymes that are involved in the heme synthesis. |
|
prefLabel |
Porphyria |
|
Synonyms |
porphyria disorders of porphyrin metabolism Porphyria Disorder Porphyrin Hematoporphyria Disorders Porphyrin Porphyrinopathy Porphyrias Porphyria (disorder) Porphyrin Disorders Porphyrinopathy (disorder) Porphyria NOS Unspecified porphyria Disorder of porphyrin and heme metabolism porphyrin disorder Disorders of porphyrin metabolism Porphyrin metabolism disorder NOS Disorder of porphyrin metabolism Disorders of Porphyrin Metabolism Disorder of porphyrin metabolism (disorder) Dis porphyrin metabolism Porphyrin metabolism disorder PORPHYRIA Porphyrin Disorder Disorder of porphyrin and haem metabolism disorder of porphyrin metabolism |
|
subClassOf |