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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)
Parent Node: Xeroderma Pigmentosum (D014983)
..Starting node ..Xeroderma Pigmentosum B/Cockayne Syndrome (C567061)
Child Nodes:
Sister Nodes:
..De Sanctis-Cacchione syndrome (C535992)
..Trichothiodystrophy, Type 1 (C564734)
..UV-SENSITIVE SYNDROME 1 (OMIM:600630)
..Xeroderma Pigmentosum B/Cockayne Syndrome (C567061)
..Xeroderma Pigmentosum IX (C564731)
..Xeroderma Pigmentosum, Autosomal Dominant, Mild (C565989)
..Xeroderma Pigmentosum, Complementation Group B (C562590)
..Xeroderma Pigmentosum, Complementation Group C (C567886)
..Xeroderma Pigmentosum, Complementation Group D (C562591)
..Xeroderma Pigmentosum, Complementation Group E (C564732)
..Xeroderma Pigmentosum, Complementation Group F (C562592)
..Xeroderma Pigmentosum, Complementation Group G (C562593)
..Xeroderma pigmentosum, type 9 (C536765)
..Xeroderma Pigmentosum, Type G/Cockayne Syndrome (C566879)
..Xeroderma pigmentosum, variant type (C536766)
..XFE Progeroid Syndrome (C567043)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	11820
Name:	Xeroderma Pigmentosum B/Cockayne Syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D003057\|MESH:D014983
TreeNumbers:	C04.834.867/C567061 \|C05.116.099.343.250/C567061 \|C10.574.500.362/C567061 \|C16.131.077.250/C567061 \|C16.131.831.936/C567061 \|C16.320.240.562/C567061 \|C16.320.400.200/C567061 \|C16.320.850.970/C567061 \|C17.800.600.925/C567061 \|C17.800.621.936/C567061 \|C17.800.804.93
Synonyms:
Slim Mappings:	Cancer\|Congenital abnormality\|Genetic disease (inborn)\|Metabolic disease\|Musculoskeletal disease\|Nervous system disease\|Skin disease
Reference:	MedGen: C567061 MeSH: C567061 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants