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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: Abnormalities, Multiple (D000015)
Parent Node: Chromosome Disorders (D025063)
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Hypoparathyroidism (D007011)
Parent Node: Lymphatic Abnormalities (D044148)
..Starting node ..22q11 Deletion Syndrome (D058165)
Child Nodes:
........DiGeorge Syndrome (D004062) 4
Sister Nodes:
..22q11 Deletion Syndrome (D058165) 5
..Lymphangiectasis, Intestinal (D008201) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	8
Name:	22q11 Deletion Syndrome
Definition:	Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D006330\|MESH:D007011\|MESH:D019465\|MESH:D025063\|MESH:D044148
TreeNumbers:	C05.660.207.103 \|C14.240.400.021 \|C14.280.400.044 \|C15.604.451.249 \|C16.131.077.019 \|C16.131.240.400.021 \|C16.131.260.019 \|C16.131.482.249 \|C16.131.621.207.103 \|C16.320.180.019 \|C19.642.482.500
Synonyms:	22q11 Deletion Syndromes \|Deletion Syndrome, 22q11 \|Deletion Syndromes, 22q11 \|Syndrome, 22q11 Deletion \|Syndromes, 22q11 Deletion
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Endocrine system disease\|Genetic disease (inborn)\|Lymphatic disease\|Musculoskeletal disease
Reference:	MedGen: D058165 MeSH: D058165 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants