loading...| Preferred Name |
Camurati-Engelmann Syndrome |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84610 |
| ALT_DEFINITION |
An autosomal dominant form of craniotubular hyperostosis due to mutation(s) in the TGFB1 gene, encoding transforming growth factor beta-1. In addition to the long bone dysplasia, anemia, leukopenia, and hepatosplenomegaly may occur. |
| code |
C84610 |
| Concept_In_Subset | |
| Contributing_Source |
NICHD |
| DEFINITION |
An autosomal dominant skeletal disorder caused by mutations in the TGFB1 gene. It is characterized by thickening of the bones, particularly the long bones of the extremities. It is associated with muscle weakness and tiredness. |
| FULL_SYN |
Camurati-Engelmann Syndrome Progressive Diaphyseal Dysplasia Camurati-Englemann Disease |
| label |
Camurati-Engelmann Syndrome |
| Preferred_Name |
Camurati-Engelmann Syndrome |
| prefixIRI |
Thesaurus:C84610 |
| prefLabel |
Camurati-Engelmann Syndrome |
| Semantic_Type |
Disease or Syndrome |
| UMLS_CUI |
C0011989 |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/D003966 | Medical Subject Headings / 医学主题词表 | LOOM |