OBO ID: DOID:14687
Term Name: diastrophic dysplasia Search Ontology:
Synonyms:
Definition: An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. (4)
References:
Ontology: Human Disease   (DOID:14687)
Relationships
is a type of:
OTHER diastrophic dysplasia PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SLC26A2 Diastrophic dysplasia, broad bone-platyspondylic variant 222600
Diastrophic dysplasia 222600
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None