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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
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| Preferred Name | Osteogenesis imperfecta type 3 | |
| Synonyms |
Progressive deforming osteogenesis imperfecta OI type 3 Severe osteogenesis imperfecta |
|
| Definitions |
A severe type form osteogenesis imperfecta characterized by increased bone fragility and low bone mass clinically manifesting as susceptibility to bone fractures, severe short stature, a triangular face, moderate to severe scoliosis, blue or blue-grey sclera, and dentinogenesis imperfecta. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_216812 |
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| alternative_term |
Progressive deforming osteogenesis imperfecta OI type 3 Severe osteogenesis imperfecta
|
|
| definition |
A severe type form osteogenesis imperfecta characterized by increased bone fragility and low bone mass clinically manifesting as susceptibility to bone fractures, severe short stature, a triangular face, moderate to severe scoliosis, blue or blue-grey sclera, and dentinogenesis imperfecta.
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=216812 |
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| has_age_of_onset |
Infancy Neonatal
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|
| has_inheritance |
Autosomal recessive X-linked recessive Autosomal dominant
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| hasDbXref |
OMIM:615220 ICD-11:LD24.K0 OMIM:610915 OMIM:259440 MeSH:C536044 OMIM:613848 OMIM:259420 OMIM:613982 OMIM:614856 OMIM:610968 OMIM:610682 OMIM:616229 UMLS:C0268362 ICD-10:Q78.0
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|
| label |
Osteogenesis imperfecta type 3
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|
| notation |
ORPHA:216812 Clinical subtype
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|
| part_of |
http://www.orpha.net/ORDO/Orphanet_519296 |
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| prefixIRI |
ORDO:Orphanet_216812
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|
| prefLabel |
Osteogenesis imperfecta type 3
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|
| present_in |
Sweden AND has_birth_prevalence_average_value : 0.89 AND has_birth_prevalence_range : 1-9 / 1 000 000 Worldwide AND has_point_prevalence_range : Unknown
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|
| treeView |
http://www.orpha.net/ORDO/Orphanet_519296 |
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| subClassOf |
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