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: nutritional deficiency disease (MONDO:0006873)
..Starting node ..swayback ()
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:	3280
Name:	swayback
Definition:	Congenital locomotor ataxia of lambs, thought to be associated with copper deficiency. It is characterized clinically by progressive incoordination of the hind limbs and pathologically by disruption of neuron and myelin development in the central nervous system. It is caused by a deficiency of metabolizable copper in the ewe during the last half of her pregnancy. (Dorland, 28th ed; Stedman, 26th ed)
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	swayback of sheep
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes: INS;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal