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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: Ataxia (D001259)
Parent Node: Confusion (D003221)
Parent Node: Metabolism, Inborn Errors (D008661)
Parent Node: Muscle Hypotonia (D009123)
Parent Node: Oculomotor Nerve Diseases (D015840)
..Starting node ..Carnitine Acetyltransferase Deficiency (C563249)
Child Nodes:
Sister Nodes:
..Adie Syndrome (D000270) 1
..Carnitine Acetyltransferase Deficiency (C563249)
..Oculomotor Nerve Injuries (D061220)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1778
Name:	Carnitine Acetyltransferase Deficiency
Definition:
Alternative IDs:
ParentIDs:	MESH:D001259\|MESH:D003221\|MESH:D008661\|MESH:D009123\|MESH:D015840
TreeNumbers:	C10.292.562.700/C563249 \|C10.292.600/C563249 \|C10.597.350.090/C563249 \|C10.597.606.337/C563249 \|C10.597.613.575/C563249 \|C11.590.436/C563249 \|C16.320.565/C563249 \|C18.452.648/C563249 \|C23.888.592.350.090/C563249 \|C23.888.592.604.339/C563249 \|C23.888.592.608.575/C5
Synonyms:
Slim Mappings:	Eye disease\|Genetic disease (inborn)\|Metabolic disease\|Nervous system disease\|Signs and symptoms
Reference:	MedGen: C563249 MeSH: C563249 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants