Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/275210
http://purl.bioontology.org/ontology/OMIM/275210
Preferred Name

RESTRICTIVE DERMOPATHY 1
Synonyms
HYPERKERATOSIS-CONTRACTURE SYNDROME
RESTRICTIVE DERMOPATHY 1, LETHAL
FETAL HYPOKINESIA SEQUENCE DUE TO RESTRICTIVE DERMOPATHY
RSDM1
TIGHT SKIN CONTRACTURE SYNDROME, LETHAL
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
HYPERKERATOSIS-CONTRACTURE SYNDROME
RESTRICTIVE DERMOPATHY 1, LETHAL
FETAL HYPOKINESIA SEQUENCE DUE TO RESTRICTIVE DERMOPATHY
RSDM1
TIGHT SKIN CONTRACTURE SYNDROME, LETHAL
prefLabel
RESTRICTIVE DERMOPATHY 1
Gene Symbol
ZMPSTE24
MADB
RSDM1
FACE1
STE24
Scope Statement
Caused by mutation in the zinc metalloproteinase STE24 gene (ZMPSTE24, 606480.0001) [MOLECULAR BASIS]
Liveborn often die within first week of life [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU009022
http://purl.bioontology.org/ontology/OMIM/MTHU009017
http://purl.bioontology.org/ontology/OMIM/MTHU015115
http://purl.bioontology.org/ontology/OMIM/MTHU000511
http://purl.bioontology.org/ontology/OMIM/MTHU009035
http://purl.bioontology.org/ontology/OMIM/MTHU009028
http://purl.bioontology.org/ontology/OMIM/MTHU009021
http://purl.bioontology.org/ontology/OMIM/MTHU009031
http://purl.bioontology.org/ontology/OMIM/MTHU009027
http://purl.bioontology.org/ontology/OMIM/MTHU005234
http://purl.bioontology.org/ontology/OMIM/MTHU009024
http://purl.bioontology.org/ontology/OMIM/MTHU004143
http://purl.bioontology.org/ontology/OMIM/MTHU009009
http://purl.bioontology.org/ontology/OMIM/MTHU000263
http://purl.bioontology.org/ontology/OMIM/MTHU009033
http://purl.bioontology.org/ontology/OMIM/MTHU004212
http://purl.bioontology.org/ontology/OMIM/MTHU000576
http://purl.bioontology.org/ontology/OMIM/MTHU009016
http://purl.bioontology.org/ontology/OMIM/MTHU009008
http://purl.bioontology.org/ontology/OMIM/MTHU009013
http://purl.bioontology.org/ontology/OMIM/MTHU001158
http://purl.bioontology.org/ontology/OMIM/MTHU004127
http://purl.bioontology.org/ontology/OMIM/MTHU036357
http://purl.bioontology.org/ontology/OMIM/MTHU008565
http://purl.bioontology.org/ontology/OMIM/MTHU009019
http://purl.bioontology.org/ontology/OMIM/MTHU074717
http://purl.bioontology.org/ontology/OMIM/MTHU005631
http://purl.bioontology.org/ontology/OMIM/MTHU009026
http://purl.bioontology.org/ontology/OMIM/MTHU036365
http://purl.bioontology.org/ontology/OMIM/MTHU009037
http://purl.bioontology.org/ontology/OMIM/MTHU009012
http://purl.bioontology.org/ontology/OMIM/MTHU002016
http://purl.bioontology.org/ontology/OMIM/MTHU036653
http://purl.bioontology.org/ontology/OMIM/MTHU002160
http://purl.bioontology.org/ontology/OMIM/MTHU001305
http://purl.bioontology.org/ontology/OMIM/MTHU009030
http://purl.bioontology.org/ontology/OMIM/MTHU036439
http://purl.bioontology.org/ontology/OMIM/MTHU074716
http://purl.bioontology.org/ontology/OMIM/MTHU009014
http://purl.bioontology.org/ontology/OMIM/MTHU009020
http://purl.bioontology.org/ontology/OMIM/MTHU009011
http://purl.bioontology.org/ontology/OMIM/MTHU036339
http://purl.bioontology.org/ontology/OMIM/MTHU000680
http://purl.bioontology.org/ontology/OMIM/MTHU037411
http://purl.bioontology.org/ontology/OMIM/MTHU009023
http://purl.bioontology.org/ontology/OMIM/MTHU009034
http://purl.bioontology.org/ontology/OMIM/MTHU009029
http://purl.bioontology.org/ontology/OMIM/MTHU009018
http://purl.bioontology.org/ontology/OMIM/MTHU007970
http://purl.bioontology.org/ontology/OMIM/MTHU005748
http://purl.bioontology.org/ontology/OMIM/MTHU002595
http://purl.bioontology.org/ontology/OMIM/MTHU009010
http://purl.bioontology.org/ontology/OMIM/MTHU009007
http://purl.bioontology.org/ontology/OMIM/MTHU074718
http://purl.bioontology.org/ontology/OMIM/MTHU009036
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tui
T047
Gene Locus
1p34
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
275210
Semantic type UMLS property
Has inheritance type
cui
C0406585
C5676878
OMIM Entry Type
3
OMIM MimType Value
pound
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