restrictive dermopathy Disease Ontology Browser

Disease Ontology Browser

restrictive dermopathy (DOID:0060762)
Alliance: disease page
Synonyms: hyperkeratosis-contracture syndrome; Infantile restrictive dermopathy; lethal restrictive dermopathy; Lethal tight skin contracture syndrome; tight skin contracture syndrome
Alt IDs: MESH:C536920, OMIM:PS275210, 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. 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.

Disease References using Mouse Models (3)

Allelic Composition	Genetic Background	Reference	Phenotypes
Fsttm1Zuk/Fsttm1Zuk	involves: 129S7/SvEvBrd	J:23925	View
Fsttm1Zuk/Fsttm1Zuk	involves: 129S7/SvEvBrd * C57BL/6	J:23925	View

Allelic Composition	Genetic Background	Reference	Phenotypes
Slc27a4wrfr/Slc27a4wrfr	involves: 129 * C57BL/6J	J:83282	View
Slc27a4tm1Wsr/Slc27a4tm1Wsr	involves: 129P2/OlaHsd * C57BL/6	J:84096	View

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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