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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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| Preferred Name | Hyperostosis, Cortical, Congenital | |
| Synonyms |
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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. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00037659 |
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| Database_Cross_Reference |
NCI_NICHD:C118423 SNOMEDCT_US:24752008 ICD10CM:M89.8 OMIM:120150 NCI:C84645 MTH:NOCODE SNOMEDCT_US:123258003 SNMI:D1-61140 RCD:PG57. MSH:D006958 SNM:D-3419 CHV:0000006429 OMIM:114000 NCI:C118423 MDR:10073206 NDFRT:N0000001601 DO:DOID:4257 MEDCIN:316200 MDR:10073208
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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.
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| label |
Hyperostosis, Cortical, Congenital
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| MCID |
MC00006556
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| PMOID |
PMO:00037659
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| prefixIRI |
pmo:PMO_00037659
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| prefLabel |
Hyperostosis, Cortical, Congenital
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| Synonym |
Canine cortical hyperostosis -RETIRED- Caffey's disease Cortical Hyperostoses, Infantile Infantile Cortical Hyperostoses Hyperostosis, Cortical, Congenital [Disease/Finding] Caffey disease Cortical Hyperostoses, Congenital Congenital Hyperostosis, Cortical Caffey's Disease, Familial Caffey-De Toni-Silvermann Syndrome Cortical Congenital Hyperostosis infantile cortical hyperostosis CAFFEY DISEASE Infantile cortical hyperostosis (disorder) Familial Caffeys Disease Disease, Caffey Familial Infantile Cortical Hyperostosis caffey syndrome Disease, Familial Caffey's Congenital Cortical Hyperostosis Infantile cortical hyperostosis Infantile Cortical Hyperostosis Cortical Congenital Hyperostoses Congenital Hyperostoses, Cortical Familial infantile cortical hyperostosis Caffey De Toni Silvermann Syndrome Familial Caffey's Disease infantile cortical hyperostosis (diagnosis) CORTICAL CONGEN HYPEROSTOSIS caffey disease Fam infant cortical hyperostos Hyperostoses, Congenital Cortical Congenital Cortical Hyperostoses Familial Caffey Disease Hyperostoses, Infantile Cortical Hyperostosis, infantile cortical Hyperostoses, Cortical Congenital Cortical Hyperostosis, Congenital Syndrome, Caffey-De Toni-Silvermann Infantile cortical hyperostoses Canine cortical hyperostosis (disorder) Caffey syndrome CORTICAL HYPEROSTOSIS CONGEN Cortical Hyperostosis, Infantile Hyperostosis, Congenital Cortical CONGEN HYPEROSTOSIS CORTICAL caffey's disease Canine cortical hyperostosis cortical congenital hyperostosis Caffey Disease Coffey's disease Hyperostosis, Infantile Cortical Hyperostosis, Cortical Congenital INFANTILE CORTICAL HYPEROSTOSIS HYPEROSTOSIS CORTICAL CONGEN
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| Tree Number |
T9.3.9.13.3 T9.8.4.19.11 T9.3.9.22.13.11 T9.8.1.7
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00013956 http://www.phoc.org.cn/pmo/class/PMO_00085641 |
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