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Disease Ontology Browser
lethal restrictive dermopathy (DOID:0060762)
Alliance: disease page
Synonyms: hyperkeratosis-contracture syndrome; tight skin contracture syndrome
Alt IDs: OMIM:275210, MESH:C536920, 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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
MGI 6.20
The Jackson Laboratory