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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: Choanal Atresia (D002754)
Parent Node: Esotropia (D004948)
..Starting node ..Goldblatt Viljoen syndrome (C537280)
Child Nodes:
Sister Nodes:
..Goldblatt Viljoen syndrome (C537280)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	4752
Name:	Goldblatt Viljoen syndrome
Definition:
Alternative IDs:
ParentIDs:	MESH:D002754\|MESH:D004948
TreeNumbers:	C08.460.171/C537280 \|C08.695.271/C537280 \|C09.603.171/C537280 \|C10.292.562.887.300/C537280 \|C11.590.810.400/C537280 \|C16.131.740.271/C537280
Synonyms:	Autosomal dominant radial ray hypoplasia syndrome \|Goldblatt Viljoen radial ray hypoplasia \|Radial ray hypoplasia with choanal hypoplasia
Slim Mappings:	Congenital abnormality\|Ear-nose-throat disease\|Eye disease\|Nervous system disease\|Respiratory tract disease
Reference:	MedGen: C537280 MeSH: C537280 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants