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lethal restrictive dermopathy (DOID:0060762)
Synonyms: hyperkeratosis-contracture syndrome; lethal restrictive dermopathy; tight skin contracture syndrome
Alt IDs: OMIM:275210, ICD10CM:Q82.8, ORDO:1662, UMLS_CUI:C0406585
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.

Disease References using Mouse Models (3)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/20/2017
MGI 6.10
The Jackson Laboratory