loading...| Preferred Name |
osteogenesis imperfecta type 3 |
| Synonyms |
progressively deforming osteogenesis imperfecta with normal sclera |
| 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. |
| ID |
http://purl.obolibrary.org/obo/DOID_0110339 |
| database_cross_reference |
GARD:8695 OMIM:259420 ICD10CM:Q78.0 |
| 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. |
| has exact synonym |
progressively deforming osteogenesis imperfecta with normal sclera osteogenesis imperfecta type III OI3 |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0110339 |
| in_subset | |
| label |
osteogenesis imperfecta type 3 |
| notation |
DOID:0110339 |
| prefLabel |
osteogenesis imperfecta type 3 |
| subClassOf |