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DO Term : spondylometaphyseal dysplasia Kozlowski type [DOID:0111554] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.

synonyms:
SMD Kozlowski type,
skeletal dysplasia Jequier-Kozlowski type,
GARD:3047,
MESH:C535797,
Jequier-Kozlowski syndrome,
184252,
OMIM:184252,
SNOMEDCT_US_2023_03_01:254077000,
dysmorphism arthrogryposis skeletal maturation advanced,
Jequier Kozlowski skeletal dysplasia,
UMLS_CUI:C0265280,
ORDO:93314

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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