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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: Nephritis, Hereditary (D009394)
Parent Node: Scleral Diseases (D015422)
..Starting node ..Daentl Towsend Siegel syndrome (C535768)
Child Nodes:
Sister Nodes:
..Daentl Towsend Siegel syndrome (C535768)
..Osteogenesis Imperfecta with Opalescent Teeth, Blue Sclerae and Wormian Bones, but Without Fractures (C563487)
..Scleritis (D015423)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2960
Name:	Daentl Towsend Siegel syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D006849\|MESH:D009394\|MESH:D015422
TreeNumbers:	C10.228.140.602/C535768 \|C10.228.140.631.450/C535768 \|C11.790/C535768 \|C12.706.742/C535768 \|C12.777.419.570.620/C535768 \|C13.351.875.742/C535768 \|C13.351.968.419.570.620/C535768 \|C16.131.939.742/C535768 \|C17.300.200.517/C535768
Synonyms:	Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome \|Hydrocephalus blue sclera nephropathy
Slim Mappings:	Congenital abnormality\|Connective tissue disease\|Eye disease\|Nervous system disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: C535768 MeSH: C535768 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants