loading...| Preferred Name | osteogenesis imperfecta | |
| Synonyms |
Fragilitas ossium brittle bone disease Vrolik's disease Osteopsathyrosis Lobstein's syndrome |
|
| Definitions |
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_12347 |
|
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| alternative label |
Fragilitas ossium brittle bone disease Vrolik's disease Osteopsathyrosis Lobstein's syndrome |
|
| database_cross_reference |
ICD10CM:Q78.0 SNOMEDCT_US_2023_03_01:254109004 UMLS_CUI:C0029434 MIM:PS166200 MESH:D010013 ICD9CM:756.51 GARD:1017 NCI:C26837 ORDO:666 |
|
| definition |
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| has exact synonym |
brittle bone disease Vrolik's disease Osteopsathyrosis Lobstein's syndrome |
|
| has_alternative_id |
DOID:14708 |
|
| has_obo_namespace |
disease_ontology |
|
| has_related_synonym |
Fragilitas ossium |
|
| id |
DOID:12347 |
|
| in_subset | ||
| label |
osteogenesis imperfecta |
|
| notation |
DOID:12347 |
|
| note |
An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. Xref MGI. OMIM mapping confirmed by DO. [SN]. |
|
| preferred label |
osteogenesis imperfecta |
|
| prefLabel |
osteogenesis imperfecta |
|
| subClassOf |