Preferred Name |
osteogenesis imperfecta |
|
Synonyms |
brittle bone disease Fragilitas ossium |
|
Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. |
|
ID |
http://purl.obolibrary.org/obo/DOID_12347 |
|
comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
database_cross_reference |
ORDO:666 OMIM:PS166200 GARD:1017 SNOMEDCT_US_2021_09_01:254109004 UMLS_CUI:C0029434 ICD10CM:Q78.0 ICD9CM:756.51 NCI:C26837 MESH:D010013 |
|
definition |
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. |
|
has_alternative_id |
DOID:14708 |
|
has_exact_synonym |
brittle bone disease Vrolik's disease Osteopsathyrosis Lobstein's syndrome |
|
has_obo_namespace |
disease_ontology |
|
has_related_synonym |
Fragilitas ossium |
|
IAO_0000115 |
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. |
|
id |
DOID:12347 |
|
in_subset | ||
label |
osteogenesis imperfecta |
|
notation |
DOID:12347 |
|
prefLabel |
osteogenesis imperfecta |
|
subClassOf |