DOID:0060762 - lethal restrictive dermopathy
Disease Ontology Definition:A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22 or by homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.
Synonyms: hyperkeratosis-contracture syndrome, lethal restrictive dermopathy, tight skin contracture syndrome
|OMIM:275210 - RESTRICTIVE DERMOPATHY, LETHAL|
Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Xenbase Genes : lmna, zmpste24
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD