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Summary Literature (1)
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

Referenced OMIM:
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
Parent(s): autosomal recessive disease (is_a), skin disease (is_a)


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