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Preferred Name

SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
Synonyms

SMDK
ID

http://purl.bioontology.org/ontology/OMIM/184252
altLabel

SMDK

SMD, KOZLOWSKI TYPE
cui

C0265280
Gene Locus

12q24.1
Gene Symbol

SSQTL1

SMAL

BCYM3

HMSN2C

TRPV4

SPSMA

VROAC

CMT2C
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU031135

http://purl.bioontology.org/ontology/OMIM/MTHU015519

http://purl.bioontology.org/ontology/OMIM/MTHU003644

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU015525

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU015517

http://purl.bioontology.org/ontology/OMIM/MTHU000585

http://purl.bioontology.org/ontology/OMIM/MTHU015527

http://purl.bioontology.org/ontology/OMIM/MTHU015522

http://purl.bioontology.org/ontology/OMIM/MTHU015520

http://purl.bioontology.org/ontology/OMIM/MTHU000038

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU001106

http://purl.bioontology.org/ontology/OMIM/MTHU031132

http://purl.bioontology.org/ontology/OMIM/MTHU031138

http://purl.bioontology.org/ontology/OMIM/MTHU011166

http://purl.bioontology.org/ontology/OMIM/MTHU015518

http://purl.bioontology.org/ontology/OMIM/MTHU015516

http://purl.bioontology.org/ontology/OMIM/MTHU011405

http://purl.bioontology.org/ontology/OMIM/MTHU003440

http://purl.bioontology.org/ontology/OMIM/MTHU010294

http://purl.bioontology.org/ontology/OMIM/MTHU015523

http://purl.bioontology.org/ontology/OMIM/MTHU001506

http://purl.bioontology.org/ontology/OMIM/MTHU015526

http://purl.bioontology.org/ontology/OMIM/MTHU015524

http://purl.bioontology.org/ontology/OMIM/MTHU015521

http://purl.bioontology.org/ontology/OMIM/MTHU011289
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

184252
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
Scope Statement

Waddling gait noted at age 15-20 months [MISCELLANEOUS]

Caused by mutation in the transient receptor potential cation channel, subfamily V, member 4 gene (TRPV4, 605427.0002) [MOLECULAR BASIS]

Normal at birth [MISCELLANEOUS]
tui

T019

T047
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Delete Mapping To Ontology Source
http://www.orpha.net/ORDO/Orphanet_93314 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.obolibrary.org/obo/DOID_0111554 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/C535797 Medical Subject Headings / 医学主题词表 CUI
http://purl.bioontology.org/ontology/MESH/C535797 Medical Subject Headings / 医学主题词表 LOOM
http://purl.obolibrary.org/obo/MONDO_0008477 Mondo Disease Ontology / Mondo疾病本体 LOOM
http://purl.obolibrary.org/obo/MONDO_0008477 Experimental Factor Ontology / 实验性因素本体 LOOM