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Cell Culture Ontology
Preferred Name | Caffey disease | |
Synonyms |
cortical congenital hyperostosis Caffey disease infantile cortical hyperostosis |
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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. |
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ID |
http://purl.obolibrary.org/obo/MONDO_0007244 |
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curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0007244 |
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database_cross_reference |
Orphanet:1310 MEDGEN:43781 UMLS:C0020497 ICD9:756.59 NCIT:C118423 OMIM:114000 MESH:D006958 SCTID:24752008 DOID:4257 GARD:1051
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|
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 |
cortical congenital hyperostosis Caffey disease infantile cortical hyperostosis
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IAO_0000233 | ||
id |
MONDO:0007244
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in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#clingen http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_malformation_syndrome http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
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label |
Caffey disease
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notation |
MONDO:0007244
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preferred label |
Caffey disease
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prefLabel |
Caffey disease
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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 |
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subClassOf |
http://purl.obolibrary.org/obo/MONDO_0002614 |
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