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:
Ontology: Human Disease   (DOID:0080729)
OTHER brittle cornea syndrome 2 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PRDM5 Brittle cornea syndrome 2 614170
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None