Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/184252
http://purl.bioontology.org/ontology/OMIM/184252
Preferred Name

SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
Synonyms
SMDK
SMD, KOZLOWSKI TYPE
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
SMDK
SMD, KOZLOWSKI TYPE
prefLabel
SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
Gene Symbol
SSQTL1
SPSMA
HMSN2C
CMT2C
SMAL
TRPV4
BCYM3
VROAC
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Scope Statement
Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, 605427.0002) [MOLECULAR BASIS]
Waddling gait noted at age 15-20 months [MISCELLANEOUS]
Normal at birth [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU011289
http://purl.bioontology.org/ontology/OMIM/MTHU015516
http://purl.bioontology.org/ontology/OMIM/MTHU015519
http://purl.bioontology.org/ontology/OMIM/MTHU015518
http://purl.bioontology.org/ontology/OMIM/MTHU015525
http://purl.bioontology.org/ontology/OMIM/MTHU011405
http://purl.bioontology.org/ontology/OMIM/MTHU000514
http://purl.bioontology.org/ontology/OMIM/MTHU015522
http://purl.bioontology.org/ontology/OMIM/MTHU001506
http://purl.bioontology.org/ontology/OMIM/MTHU015523
http://purl.bioontology.org/ontology/OMIM/MTHU015521
http://purl.bioontology.org/ontology/OMIM/MTHU015524
http://purl.bioontology.org/ontology/OMIM/MTHU001106
http://purl.bioontology.org/ontology/OMIM/MTHU010294
http://purl.bioontology.org/ontology/OMIM/MTHU015526
http://purl.bioontology.org/ontology/OMIM/MTHU003644
http://purl.bioontology.org/ontology/OMIM/MTHU000036
http://purl.bioontology.org/ontology/OMIM/MTHU002160
http://purl.bioontology.org/ontology/OMIM/MTHU000038
http://purl.bioontology.org/ontology/OMIM/MTHU031135
http://purl.bioontology.org/ontology/OMIM/MTHU031138
http://purl.bioontology.org/ontology/OMIM/MTHU011166
http://purl.bioontology.org/ontology/OMIM/MTHU015520
http://purl.bioontology.org/ontology/OMIM/MTHU015527
http://purl.bioontology.org/ontology/OMIM/MTHU003440
http://purl.bioontology.org/ontology/OMIM/MTHU031132
http://purl.bioontology.org/ontology/OMIM/MTHU015517
http://purl.bioontology.org/ontology/OMIM/MTHU000585
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tui
T047
T019
Gene Locus
12q24.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
184252
Semantic type UMLS property
Has inheritance type
cui
C0265280
OMIM Entry Type
3
OMIM MimType Value
pound
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