Cell Culture Ontology

Last uploaded: July 23, 2014
Preferred Name

Caffey disease
Synonyms

cortical congenital hyperostosis

Caffey disease

infantile cortical 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

Orphanet:1310

MEDGEN:43781

UMLS:C0020497

ICD9:756.59

NCIT:C118423

OMIM:114000

MESH:D006958

SCTID:24752008

DOID:4257

GARD:1051

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.

has_exact_synonym

cortical congenital hyperostosis

Caffey disease

infantile cortical hyperostosis

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4948

id

MONDO:0007244

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

label

Caffey disease

notation

MONDO:0007244

preferred label

Caffey disease

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

https://omim.org/entry/114000

http://identifiers.org/snomedct/24752008

http://purl.obolibrary.org/obo/DOID_4257

subClassOf

http://purl.obolibrary.org/obo/MONDO_0002614

http://purl.obolibrary.org/obo/MONDO_0019702

http://purl.obolibrary.org/obo/MONDO_0002185

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