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Mondo Disease Ontology
| Preferred Name | Caffey disease | |
| Synonyms |
Caffey disease infantile cortical hyperostosis cortical congenital hyperostosis |
|
| Definitions |
Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0007244 |
|
| curated content resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0007244 |
|
| database_cross_reference |
DOID:4257 MESH:D006958 ICD9:756.59 OMIM:114000 Orphanet:1310 MEDGEN:43781 UMLS:C0020497 NCIT:C118423 GARD:1051 SCTID:24752008
|
|
| definition |
Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.
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|
| has_exact_synonym |
Caffey disease infantile cortical hyperostosis cortical congenital hyperostosis
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|
| IAO_0000233 | ||
| id |
MONDO:0007244
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_malformation_syndrome |
|
| label |
Caffey disease
|
|
| notation |
MONDO:0007244
|
|
| prefLabel |
Caffey disease
|
|
| skos_exactMatch |
http://linkedlifedata.com/resource/umls/id/C0020497 http://purl.obolibrary.org/obo/Orphanet_1310 http://identifiers.org/medgen/43781 http://identifiers.org/mesh/D006958 http://purl.obolibrary.org/obo/NCIT_C118423 |
|
| treeView |
http://purl.obolibrary.org/obo/MONDO_0002614 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0002614 |
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