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Medical Imaging and Diagnostic Ontology
Last uploaded:
April 25, 2022
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| Preferred Name | Caffey disease | |
| Synonyms |
infantile cortical hyperostosis cortical congenital hyperostosis |
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| Definitions |
A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability. OMIM mapping confirmed by DO. [SN]. |
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| ID |
http://purl.obolibrary.org/obo/DOID_4257 |
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| comment |
OMIM mapping confirmed by DO. [SN].
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| database_cross_reference |
ICD10CM:M89.8 NCI:C84645 UMLS_CUI:C0020497 MESH:D006958 OMIM:114000 GARD:1051 SNOMEDCT_US_2021_09_01:24752008
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|
| definition |
A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability. OMIM mapping confirmed by DO. [SN].
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| has_exact_synonym |
infantile cortical hyperostosis cortical congenital hyperostosis
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| has_obo_namespace |
disease_ontology
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| has_symptom | ||
| IAO_0000115 |
A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability.
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| id |
DOID:4257
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| in_subset | ||
| label |
Caffey disease
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|
| notation |
DOID:4257
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|
| note |
A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability. OMIM mapping confirmed by DO. [SN].
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| prefLabel |
Caffey disease
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| subClassOf |
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