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DO Term : spondylometaphyseal dysplasia Algerian type [DOID:0112296] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A spondylometaphyseal dysplasia characterized by a short trunk and severe genu valgum and that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.

synonyms:
GARD:504,
UMLS_CUI:C1866688,
spondylometaphyseal dysplasia, Schmidt type,
SNOMEDCT_US_2023_03_01:719304005,
184253,
OMIM:184253,
spondylometaphyseal dysplasia with severe genu valgum,
ORDO:93316,
MESH:C535794

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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