loading...| Preferred Name |
spondylometaphyseal dysplasia Kozlowski type |
| Synonyms |
skeletal dysplasia Jequier-Kozlowski type |
| Definitions |
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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0111554 |
| database_cross_reference |
OMIM:184252 MESH:C535797 SNOMEDCT_US_2022_09_01:254077000 UMLS_CUI:C0265280 GARD:3047 ORDO:93314 |
| definition |
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. |
| has exact synonym |
skeletal dysplasia Jequier-Kozlowski type SMD Kozlowski type Jequier Kozlowski skeletal dysplasia Jequier-Kozlowski syndrome dysmorphism arthrogryposis skeletal maturation advanced |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0111554 |
| in_subset | |
| label |
spondylometaphyseal dysplasia Kozlowski type |
| notation |
DOID:0111554 |
| prefLabel |
spondylometaphyseal dysplasia Kozlowski type |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/184252 | Online Mendelian Inheritance in Man | LOOM | |
| http://purl.bioontology.org/ontology/MESH/C535797 | Medical Subject Headings | LOOM |