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loading...| Preferred Name |
Camurati-Engelmann disease |
| Synonyms |
Diaphyseal dysplasia |
| Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. |
| ID |
http://purl.obolibrary.org/obo/DOID_4997 |
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
OMIM:606631 SNOMEDCT_US_2022_09_01:34643004 ICD10CM:Q78.3 OMIM:131300 NCI:C84610 GARD:1072 MESH:D003966 UMLS_CUI:C0011989 |
| definition |
An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. |
| disease has basis in | |
| has exact synonym |
Diaphyseal dysplasia Engelman's disease progressive diaphyseal dysplasia |
| has_obo_namespace |
disease_ontology |
| id |
DOID:4997 |
| in_subset | |
| label |
Camurati-Engelmann disease |
| notation |
DOID:4997 |
| prefLabel |
Camurati-Engelmann disease |
| subClassOf |
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