OBO ID: DOID:0060762
Term Name: lethal restrictive dermopathy Search Ontology:
Synonyms:
  • hyperkeratosis-contracture syndrome
  • tight skin contracture syndrome
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. (2)
References:
Ontology: Human Disease   (DOID:0060762)
OTHER lethal restrictive dermopathy PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ZMPSTE24 Restrictive dermopathy 1 275210
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None