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Restrictive Dermopathy 1 (MONDO:0800042)

A restrictive dermopathy that has material basis in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34.

Overview

Category

Unknown

Ontology ID

Internal:24796

Synonyms

restrictive dermopathy

fetal hypokinesia sequence due to restrictive dermopathy

foetal hypokinesia sequence due to restrictive dermopathy

hyperkeratosis-contracture syndrome

restrictive dermopathy 1, lethal

tight skin contracture syndrome, lethal

restrictive dermopathy, lethal

Mapped terms

DOID:0070369

GARD:0026425

MEDGEN:1812447

MESH:C536920

OMIM:275210

SCTID:400128006

UMLS:C5676878

Child terms

Unknown children.