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

MIM: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 Pages

Alliance (1)

Genes Involved

Zebrafish Models