OBO ID: DOID:4997
Term Name: Camurati-Engelmann disease Search Ontology:
Synonyms:
  • Diaphyseal dysplasia
  • Engelman's disease
  • progressive diaphyseal dysplasia
Definition: An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. (5)
References:
Ontology: Human Disease   (DOID:4997)
OTHER Camurati-Engelmann disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TGFB1 Camurati-Engelmann disease 131300
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None