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
  • 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 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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