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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | Caffey disease | |
| Synonyms |
infantile cortical hyperostosis cortical congenital hyperostosis |
|
| 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 |
|
| comment |
OMIM mapping confirmed by DO. [SN].
|
|
| alternative label |
infantile cortical hyperostosis cortical congenital hyperostosis
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| database_cross_reference |
ICD10CM:M89.8 UMLS_CUI:C0020497 SNOMEDCT_US_2023_03_01:24752008 OMIM:114000 MESH:D006958 GARD:1051 NCI:C84645
|
|
| 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 symptom | ||
| has_obo_namespace |
disease_ontology
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|
| id |
DOID:4257
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|
| in_subset | ||
| label |
Caffey disease
|
|
| notation |
DOID:4257
|
|
| 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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|
| preferred label |
Caffey disease
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|
| prefLabel |
Caffey disease
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| subClassOf |
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