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 |
|
| database_cross_reference |
NANDO:2201011 SCTID:78314001 ICD10CM:Q78.0 icd11.foundation:1219932551 UMLS:C0029434 Orphanet:666 NANDO:1200873 MedDRA:10031243 NCIT:C26837 OMIMPS:166200 ICD9:756.51 MEDGEN:45246 MESH:D010013 DOID:12347 GARD:1017 NORD:1535 |
|
| definition |
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. |
|
| has_exact_synonym |
Osteopsathyrosis brittle bone disease Lobstein's syndrome Lobstein disease glass bone disease Vrolik's disease Porak and Durante disease OI |
|
| has_related_synonym |
Fragilitas ossium Vrolik disease |
|
| id |
MONDO:0019019 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
osteogenesis imperfecta |
|
| notation |
MONDO:0019019 |
|
| preferred label |
osteogenesis imperfecta |
|
| prefLabel |
osteogenesis imperfecta |
|
| see also |
https://rarediseases.info.nih.gov/diseases/1017/osteogenesis-imperfecta |
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| skos_closeMatch | ||
| skos_exactMatch |
http://purl.bioontology.org/ontology/ICD10CM/Q78.0 http://identifiers.org/medgen/45246 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1219932551 http://purl.obolibrary.org/obo/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 |
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| subClassOf | ||
| excluded_subClassOf |