metabolic skin disease inborn errors of metabolism porphyria DOID:13268 SNOMEDCT:371628009 porphyria James Malone DIS PORPHYRIN METABOLISM SNOMEDCT:190916001 Porphyria NOS (disorder) Porphyria NOS ICD9:277.1 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. Porphyrinopathy (disorder) porphyrias Porphyrinopathy URI: http://www.ebi.ac.uk/cellline#porphyria disorder of porphyrin metabolism Disorder of porphyrin metabolism, NOS Disorders of porphyrin metabolism (disorder) Hematoporphyria disorder of porphyrin and hem metabolism Porphyria (disorder) GeneRIF:16026339 Disorder of porphyrin and heme metabolism Disorders of porphyrin metabolism Disorder of porphyrin metabolism (disorder) SNOMEDCT:29094004 Disorder of porphyrin and haem metabolism MSH:D011164