loading...| Preferred Name | osteogenesis imperfecta type 3 | |
| Synonyms |
OI3 osteogenesis imperfecta type III progressively deforming osteogenesis imperfecta with normal sclera |
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| Definitions |
An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0110339 |
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| alternative label |
OI3 osteogenesis imperfecta type III progressively deforming osteogenesis imperfecta with normal sclera |
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| database_cross_reference |
ICD10CM:Q78.0 OMIM:259420 GARD:8695 |
|
| definition |
An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. |
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| has exact synonym |
OI3 osteogenesis imperfecta type III progressively deforming osteogenesis imperfecta with normal sclera |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
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| id |
DOID:0110339 |
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| in_subset | ||
| label |
osteogenesis imperfecta type 3 |
|
| notation |
DOID:0110339 |
|
| note |
An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. |
|
| preferred label |
osteogenesis imperfecta type 3 |
|
| prefLabel |
osteogenesis imperfecta type 3 |
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| subClassOf |