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DO Term : osteogenesis imperfecta type 3 [DOID:0110339] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

synonyms:
ICD10CM:Q78.0,
GARD:8695,
OMIM:259420,
259420,
osteogenesis imperfecta type III,
progressively deforming osteogenesis imperfecta with normal sclera,
OI3

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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