ZFIN Human Disease: Cohen syndrome

OBO ID: DOID:0111590

Term Name:	Cohen syndrome		Search Ontology:
Synonyms:	COH1 Hypotonia, obesity, and prominent incisors Pepper syndrome
Definition:	A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2. (3)
References:	GARD:6126 MEDDRA:10049066 MESH:C536438 OMIM:216550 ORDO:193 SNOMEDCT_US_2023_03_01:56604005 UMLS_CUI:C0265223
Ontology:	Human Disease ( DOID:0111590 )

Relationships

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

OTHER Cohen syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
VPS13B	vps13b	Cohen syndrome	216550

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None