loading...| Preferred Name | osteogenesis imperfecta | |
| Synonyms |
Fragilitas ossium Vrolik disease Osteopsathyrosis brittle bone disease Lobstein's syndrome Lobstein disease glass bone disease Vrolik's disease Porak and Durante disease OI |
|
| Definitions |
Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019019 |
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| closeMatch | ||
| disease has feature | ||
| exactMatch |
http://purl.bioontology.org/ontology/ICD10CM/Q78.0 http://www.orpha.net/ORDO/Orphanet_666 http://identifiers.org/snomedct/78314001 https://omim.org/phenotypicSeries/PS166200 http://purl.obolibrary.org/obo/NCIT_C26837 http://purl.obolibrary.org/obo/DOID_12347 |
|
| hasDbXref |
SCTID:78314001 ICD10CM:Q78.0 UMLS:C0029434 Orphanet:666 MedDRA:10031243 NCIT:C26837 OMIMPS:166200 ICD9:756.51 MESH:D010013 DOID:12347 GARD:1017 NORD:1535 |
|
| hasExactSynonym |
Osteopsathyrosis brittle bone disease Lobstein's syndrome Lobstein disease glass bone disease Vrolik's disease Porak and Durante disease OI |
|
| hasRelatedSynonym |
Fragilitas ossium Vrolik disease |
|
| IAO_0000115 |
Osteogenesis imperfecta (OI) comprises a heterogeneous group of genetic disorders characterized by increased bone fragility, low bone mass, and susceptibility to bone fractures with variable severity. |
|
| id |
MONDO:0019019 |
|
| inSubset |
http://purl.obolibrary.org/obo/mondo#ordo_disease http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare |
|
| label |
osteogenesis imperfecta |
|
| notation |
MONDO:0019019 |
|
| prefLabel |
osteogenesis imperfecta |
|
| seeAlso |
https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta |
|
| should_conform_to |
http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml |
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| excluded_subClassOf | ||
| subClassOf |