Search Ontology:
Human Disease

diastrophic dysplasia

Term ID
DOID:14687
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. (3)
References
Ontology
Human Disease   ( DOID:14687 )
Relationships
is a type of
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Genes Involved
Zebrafish Models
Citations