Disease browser and phenotype 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

Disease Browser
Parent Node: Ear Diseases (D004427)
Parent Node: Intellectual Disability (D008607)
Parent Node: Translocation, Genetic (D014178)
..Starting node ..SUPERNUMERARY DER(22)t(8 (OMIM:613700)
Child Nodes:
Sister Nodes:
..Chromosome 9 inversion or duplication (C538021)
..Chromosomes 1 and 2, monosomy 2q duplication 1p (C535455)
..Philadelphia Chromosome (D010677)
..SUPERNUMERARY DER(22)t(8 (OMIM:613700)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10762
Name:	SUPERNUMERARY DER(22)t(8
Definition:
Alternative IDs:
ParentIDs:	MESH:D004427\|MESH:D008607\|MESH:D014178
TreeNumbers:	C09.218/613700 \|C10.597.606.643/613700 \|C23.550.210.870/613700 \|C23.888.592.604.646/613700 \|F03.550.600/613700
Synonyms:	22) SYNDROME
Slim Mappings:	Ear-nose-throat disease\|Mental disorder\|Nervous system disease\|Pathology (process)\|Signs and symptoms
Reference:	MedGen: 613700 MeSH: 613700 OMIM: 613700; Genes:
Phenotypes
Disease Causing ClinVar Variants