loading...| Preferred Name | osteogenesis imperfecta type 3 | |
| Synonyms |
progressively deforming OI osteogenesis imperfecta, type III osteogenesis imperfecta, progressively deforming, with normal sclerae osteogenesis imperfecta, type 3 osteogenesis imperfecta, progressively deforming with normal sclerae OI type III OI, type 3 Oi3 severe osteogenesis imperfecta progressive deforming osteogenesis imperfecta osteogenesis imperfecta type III progressively deforming osteogenesis imperfecta with normal sclera osteogenesis imperfecta type 3 OI type 3 OI3 |
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| Definitions |
Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI). |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0009804 |
|
| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0009804 |
|
| database_cross_reference |
SCTID:385483009 MESH:C536044 icd11.foundation:629873920 MEDGEN:78664 NCIT:C99002 OMIM:259420 Orphanet:216812 DOID:0110339 UMLS:C0268362 GARD:8695 |
|
| definition |
Osteogenesis imperfecta type III is a severe type of osteogenesis imperfecta (OI), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. The main signs of type III include very short stature, a triangular face, severe scoliosis, grayish sclera, and dentinogenesis imperfecta (DI). |
|
| has_exact_synonym |
severe osteogenesis imperfecta progressive deforming osteogenesis imperfecta osteogenesis imperfecta type III progressively deforming osteogenesis imperfecta with normal sclera osteogenesis imperfecta type 3 OI type 3 OI3 |
|
| has_related_synonym |
progressively deforming OI osteogenesis imperfecta, type III osteogenesis imperfecta, progressively deforming, with normal sclerae osteogenesis imperfecta, type 3 osteogenesis imperfecta, progressively deforming with normal sclerae OI type III OI, type 3 Oi3 |
|
| IAO_0000233 | ||
| id |
MONDO:0009804 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_subtype_of_a_disorder |
|
| label |
osteogenesis imperfecta type 3 |
|
| notation |
MONDO:0009804 |
|
| preferred label |
osteogenesis imperfecta type 3 |
|
| prefLabel |
osteogenesis imperfecta type 3 |
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| skos_exactMatch |
http://purl.obolibrary.org/obo/NCIT_C99002 http://linkedlifedata.com/resource/umls/id/C0268362 http://purl.obolibrary.org/obo/Orphanet_216812 http://identifiers.org/medgen/78664 http://identifiers.org/snomedct/385483009 http://purl.obolibrary.org/obo/DOID_0110339 http://identifiers.org/mesh/C536044 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/629873920 |
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| subClassOf |