Terminology Service for NFDI4Health
osteogenesis imperfecta
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http://purl.obolibrary.org/obo/DOID_12347
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. [ http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007640 http://purl.obolibrary.org/obo/ECO_0007637 ]
Term info
Label
osteogenesis imperfecta
Synonyms
- Fragilitas ossium
- Lobstein's syndrome
- Osteopsathyrosis
- Vrolik's disease
- brittle bone disease
Subsets
DO_rare_slim, NCIthesaurus
comment
Xref MGI. OMIM mapping confirmed by DO. [SN].
has alternative id
DOID:14708
has obo namespace
disease_ontology
id
DOID:12347