FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
Help Close All Open All
General Information
Term diastrophic dysplasia ID (Ontology) DOID:14687 (Human Disease)
Definition An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.
Comment
Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
    Results list data from multiple species. Click on a button above and use the 'Filter by species' options on the resulting HitList to retrieve species-specific data.
Records annotated with this exact term (annotations to child terms are NOT included)
No relevant records available
show Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
 Full annotation statements 
Relevant FlyBase reports
 Genes
 diastrophic dysplasia       1
 for disease ribbon | diastrophic dysplasia       1
 model of | diastrophic dysplasia       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
bone development disease         |
 |__osteochondrodysplasia________|
cartilage disease                |
 |__osteochondrodysplasia________|
                                 diastrophic dysplasia  1 rec.
Spanning Tree View Settings
Parents/Children
View Depth
Show hierarchy levels: for parents, for children
hide Relationships
Is a autosomal recessive disease
osteochondrodysplasia
Part of
hide Synonyms & Secondary IDs
Synonyms
Secondary IDs
hide External Crossreferences & Linkouts
GARD:6275
ICD10CM:Q77.5
MESH:C536170
MIM:222600
NCI:C156311
SNOMEDCT_US_2023_03_01:58561002
UMLS_CUI:C0220726