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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: Cockayne Syndrome (D003057)
..Starting node ..Cerebrooculofacioskeletal Syndrome 3 (C565035)
Child Nodes:
Sister Nodes:
..Cerebrooculofacioskeletal Syndrome 1 (C562434)
..Cerebrooculofacioskeletal Syndrome 3 (C565035)
..FORSYTHE-WAKELING SYNDROME (OMIM:613606)
..Xeroderma Pigmentosum B/Cockayne Syndrome (C567061)
..Xeroderma Pigmentosum, Type G/Cockayne Syndrome (C566879)
..XFE Progeroid Syndrome (C567043)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1965
Name:	Cerebrooculofacioskeletal Syndrome 3
Definition:
Alternative IDs:
ParentIDs:	MESH:D003057
TreeNumbers:	C05.116.099.343.250/C565035 \|C10.574.500.362/C565035 \|C16.131.077.250/C565035 \|C16.320.240.562/C565035 \|C16.320.400.200/C565035 \|C18.452.284.250/C565035
Synonyms:
Slim Mappings:	Congenital abnormality\|Genetic disease (inborn)\|Metabolic disease\|Musculoskeletal disease\|Nervous system disease
Reference:	MedGen: C565035 MeSH: C565035 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants