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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: Hydrocephalus (D006849)
Parent Node: Melanosis (D008548)
Parent Node: Meningomyelocele (D008591)
..Starting node ..Schwartz Cohen-Addad Lambert syndrome (C535835)
Child Nodes:
Sister Nodes:
..Lipomyelomeningocele (C537030)
..Sacral meningocele conotruncal heart defects (C537223)
..Schwartz Cohen-Addad Lambert syndrome (C535835)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	10044
Name:	Schwartz Cohen-Addad Lambert syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D006849\|MESH:D008548\|MESH:D008591
TreeNumbers:	C10.228.140.602/C535835 \|C10.228.140.631.450/C535835 \|C10.500.680.610/C535835 \|C16.131.666.680.610/C535835 \|C17.800.621.430.530/C535835
Synonyms:	Congenital melanocytosis with myelomeningocele and hydrocephalus
Slim Mappings:	Congenital abnormality\|Nervous system disease\|Skin disease
Reference:	MedGen: C535835 MeSH: C535835 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants