ZFIN Human Disease: brittle cornea syndrome 2

OBO ID: DOID:0080729

Term Name:	brittle cornea syndrome 2		Search Ontology:
Synonyms:
Definition:	An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27. https://pubmed.ncbi.nlm.nih.gov/28306229/
References:	OMIM:614170
Ontology:	Human Disease ( DOID:0080729 )

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 2 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
PRDM5	prdm5	Brittle cornea syndrome 2	614170

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS (1)