Visualize Submit Comment

Metadata
ID	DOID:0081020
Name	congenital fibrosis of the extraocular muscles 5
Definition	A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25. https://pubmed.ncbi.nlm.nih.gov/25500261/
Xrefs	MIM:616219
Parent Relationships	is_a congenital fibrosis of the extraocular muscles is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance