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Echinobase
Summary Literature (0)
DOID:0060762 - 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. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life.

Synonyms: Infantile restrictive dermopathy, Lethal tight skin contracture syndrome, hyperkeratosis-contracture syndrome, lethal restrictive dermopathy, tight skin contracture syndrome,

Echinobase Genes : zmpste24


OMIM:
MIM:275210 - restrictive dermopathy, lethal

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): skin disease (is_a)