brittle cornea syndrome 2

Term ID

DOID:0080729

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 )