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DO Term : osteogenesis imperfecta type 1 [DOID:0110334] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3.

synonyms:
osteogenesis imperfecta type I,
GARD:8694,
OMIM:166200,
MESH:D010013,
OI1,
ORDO:216796,
NCI:C99003,
SNOMEDCT_US_2023_03_01:3508009,
166200,
UMLS_CUI:C0023931

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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