ZFIN Human Disease: Stickler syndrome 2

OBO ID: DOID:0080675

Term Name:	Stickler syndrome 2		Search Ontology:
Synonyms:
Definition:	A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21. https://pubmed.ncbi.nlm.nih.gov/15286167/
References:	OMIM:604841
Ontology:	Human Disease ( DOID:0080675 )

Relationships

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

OTHER Stickler syndrome 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
COL11A1	col11a1b col11a1a	Stickler syndrome, type II	604841

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)