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DO Term : diastrophic dysplasia [DOID:14687] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism.

synonyms:
NCI:C156311,
MESH:C536170,
ICD10CM:Q77.5,
222600,
SNOMEDCT_US_2023_03_01:58561002,
OMIM:222600,
UMLS_CUI:C0220726,
GARD:6275

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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