MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: cartilage disease (MONDO:0005569)
Parent Node: disorder of organic acid metabolism (MONDO:0045022)
..Starting node ..ochronosis disorder ()
Child Nodes:
........exogenous ochronosis ()
Sister Nodes:
..amino acid metabolism disease ()
..biotin metabolic disease ()
..hemolytic anemia due to a disorder of glycolytic enzymes ()
..inherited organic acidemia ()
..ochronosis disorder ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	1910
Name:	ochronosis disorder
Definition:	A disorder characterized by bluish-black discoloration of the cartilaginous tissues due to accumulation of homogentisic acid. It is associated with alkaptonuria. Signs and symptoms include dark urine, skin pigmentation, and arthritis.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	ochronosis
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal