Visualize Submit Comment

Metadata
ID	DOID:0070369
Name	restrictive dermopathy 1
Definition	A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. https://www.ncbi.nlm.nih.gov/pubmed/15317753, https://www.ncbi.nlm.nih.gov/pubmed/20101687
Xrefs	MIM:275210
SKOS	exactMatch MIM:275210
Parent Relationships	is_a restrictive dermopathy is_a autosomal recessive disease
Subclass Logical Relationships	has material basis in some autosomal recessive inheritance