ZFIN Human Disease: Van den Ende-Gupta syndrome

OBO ID: DOID:0111699

Term Name:	Van den Ende-Gupta syndrome		Search Ontology:
Synonyms:	blepharophimosis, arachnodactyly, and congenital contractures Marden-Walker-like syndrome Marden-Walker-like syndrome without psychmotor retardation VDEGS
Definition:	A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21. https://www.ncbi.nlm.nih.gov/pubmed/23808541
References:	GARD:3382 MESH:C535909 OMIM:600920 ORDO:2460 SNOMEDCT_US_2023_03_01:719845008 UMLS_CUI:C1833136
Ontology:	Human Disease ( DOID:0111699 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER Van den Ende-Gupta syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SCARF2	scarf2	Van den Ende-Gupta syndrome	600920

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None