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: non-human animal disease (MONDO:0005583)
Parent Node: nutritional deficiency disease (MONDO:0006873)
..Starting node ..steatitis ()
Child Nodes:
Sister Nodes:
..acquired night blindness ()
..ariboflavinosis ()
..ascorbic acid deficiency ()
..choline deficiency disease ()
..endemic goiter ()
..folic acid deficiency anemia ()
..iron deficiency anemia ()
..Keshan disease ()
..magnesium deficiency ()
..pellagra ()
..pernicious anemia ()
..potassium deficiency ()
..protein-energy malnutrition ()
..steatitis ()
..swayback ()
..vitamin deficiency disorder ()
..Wernicke-Korsakoff syndrome ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	6979
Name:	steatitis
Definition:	A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)
Alternative IDs:
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Synonyms:
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal