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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: Dandy-Walker Syndrome (D003616)
..Starting node ..Dandy Walker variant (C535772)
Child Nodes:
Sister Nodes:
..3C syndrome (C535313)
..Chitayat Moore Del Bigio syndrome (C535927)
..Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus (C536790)
..Dandy Walker cyst (C538507)
..Dandy Walker malformation postaxial polydactyly (C535771)
..Dandy Walker variant (C535772)
..Dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy (C535985)
..Dandy-Walker Malformation With Occipital Cephalocele, Autosomal Dominant (C567185)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Nasopharyngeal teratoma with Dandy Walker diaphragmatic hernia (C538340)
..Renal hepatic pancreatic dysplasia Dandy Walker cyst (C537756)
..RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 (OMIM:208540)
..Volcke Soekarman syndrome (C537718)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2969
Name:	Dandy Walker variant
Definition:
Alternative IDs:
ParentIDs:	MESH:D003616
TreeNumbers:	C10.228.140.252.300/C535772 \|C10.228.140.602.288/C535772 \|C10.228.140.631.450.500/C535772 \|C10.500.205/C535772 \|C16.131.666.205/C535772
Synonyms:
Slim Mappings:	Congenital abnormality\|Nervous system disease
Reference:	MedGen: C535772 MeSH: C535772 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants