Search Ontology:
Human Disease
osteogenesis imperfecta
- Term ID
- DOID:12347
- Synonyms
-
- brittle bone disease
- Fragilitas ossium
- Lobstein's syndrome
- Osteopsathyrosis
- Vrolik's disease
- Definition
- An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. (6)
- References
-
- GARD:1017
- ICD10CM:Q78.0
- ICD9CM:756.51
- MESH:D010013
- MIM:PS166200
- NCI:C26837
- ORDO:666
- SNOMEDCT_US_2023_03_01:254109004
- UMLS_CUI:C0029434
- Ontology
- Human Disease ( DOID:12347 )
- is a type of
-
- has subtype
Other Pages
Genes Involved
Zebrafish Models