MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Disease Browser
Parent Node:
expand
Metabolic Diseases (D008659)
Parent Node:
expand
Metabolism, Inborn Errors (D008661)
Parent Node:
expand
Skin Diseases, Metabolic (D012875)
..Starting node
..expand
Porphyrias (D011164)

       Child Nodes:
........expandPorphyria, Chester type (C536341)
........expandPorphyria, Erythropoietic (D017092)
........expandPorphyrias, Hepatic (D017094) Child14
........expandYusho Disease (C536720)



 Sister Nodes: 
..expandLipodystrophy (D008060) Child12
..expandNecrobiosis Lipoidica (D009335)
..expandPorphyrias (D011164) Child18
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9152
Name:Porphyrias
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.
Alternative IDs:
ParentIDs:MESH:D008659|MESH:D008661|MESH:D012875
TreeNumbers:C16.320.565.708 |C17.800.849.617 |C18.452.648.708 |C18.452.811 |C18.452.880.617
Synonyms:Disorder, Porphyrin |Disorders, Porphyrin |Porphyria |Porphyrin Disorder |Porphyrin Disorders
Slim Mappings:Genetic disease (inborn)|Metabolic disease|Skin disease
Reference: MedGen: D011164
MeSH: D011164
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal