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
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- GARD:6275
- ICD10CM:Q77.5
- MESH:C536170
- MIM:222600
- NCI:C156311
- SNOMEDCT_US_2023_03_01:58561002
- UMLS_CUI:C0220726
- Ontology
- Human Disease ( DOID:14687 )
- is a type of
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Genes Involved
Zebrafish Models