ZFIN Human Disease: brittle cornea syndrome 1

OBO ID: DOID:14775

Term Name:	brittle cornea syndrome 1		Search Ontology:
Synonyms:	type VIB Ehlers-Danlos syndrome
Definition:	An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24. https://pubmed.ncbi.nlm.nih.gov/28306229/
References:	GARD:1019 MESH:C536198 NCI:C125700 OMIM:229200 SNOMEDCT_US_2023_03_01:25606004 UMLS_CUI:C0268342
Ontology:	Human Disease ( DOID:14775 )

Relationships

is a type of:	autosomal recessive disease corneal disease Ehlers-Danlos syndrome autosomal recessive disease corneal disease Ehlers-Danlos syndrome Show first 5 Terms

OTHER brittle cornea syndrome 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ZNF469		Brittle cornea syndrome 1

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None