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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 Duplication (D058674)
Parent Node: DiGeorge Syndrome (D004062)
..Starting node ..Chromosome 22q11.2 Microduplication Syndrome (C567224)
Child Nodes:
Sister Nodes:
..Chromosome 22q11.2 Deletion Syndrome, Distal (C567511)
..Chromosome 22q11.2 Microduplication Syndrome (C567224)
..Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 (C563337)
..Takao VCF Syndrome (C566051)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2273
Name:	Chromosome 22q11.2 Microduplication Syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D000015\|MESH:D004062\|MESH:D058674
TreeNumbers:	C05.660.207.103.500/C567224 \|C14.240.400.021.500/C567224 \|C14.280.400.044.500/C567224 \|C15.604.451.249.500/C567224 \|C16.131.077.019.500/C567224 \|C16.131.077/C567224 \|C16.131.240.400.021.500/C567224 \|C16.131.260.019.500/C567224 \|C16.131.482.249.500/C567224 \|C16.13
Synonyms:	22q11.2 Duplication \|Chromosome 22q11.2 Duplication Syndrome
Slim Mappings:	Cardiovascular disease\|Congenital abnormality\|Endocrine system disease\|Genetic disease (inborn)\|Lymphatic disease\|Musculoskeletal disease\|Pathology (process)
Reference:	MedGen: C567224 MeSH: C567224 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants