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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Metabolic Diseases (D008659)
Parent Node: Metabolism, Inborn Errors (D008661)
Parent Node: Skin Diseases, Metabolic (D012875)
..Starting node ..Porphyrias (D011164)
Child Nodes:
........Porphyria, Chester type (C536341)
........Porphyria, Erythropoietic (D017092)
........Porphyrias, Hepatic (D017094) 14
........Yusho Disease (C536720)
Sister Nodes:
..Lipodystrophy (D008060) 12
..Necrobiosis Lipoidica (D009335)
..Porphyrias (D011164) 18
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, 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: Genes:
Phenotypes
Disease Causing ClinVar Variants