loading...| Preferred Name |
Infantile Cortical Hyperostosis |
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| Synonyms |
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| Definitions |
A self-limited inflammatory disorder of unknown etiology found in infants that causes swelling of the soft tissue, changes to bone, and irritability. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C118423 |
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| ALT_DEFINITION |
An autosomal dominant condition caused by mutation(s) in the COL1A1 gene encoding the collagen alpha-1(I) chain. This disease is an acute inflammatory condition of infancy that causes soft tissue swelling (mostly of chin/cheeks), bone thickening/widening (particularly of the mandible/clavicles/long bones), pain, and irritability. This disease generally resolves by the 3rd year of life, although some bony deformity may persist. |
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| code |
C118423 |
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| Contributing_Source |
MedDRA NICHD |
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| definition |
A self-limited inflammatory disorder of unknown etiology found in infants that causes swelling of the soft tissue, changes to bone, and irritability. |
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| in_subset |
http://purl.obolibrary.org/obo/NCIT_C90259 |
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| label |
Infantile Cortical Hyperostosis |
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| Maps_To |
Infantile cortical hyperostosis |
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| NCI_META_CUI |
CL479882 |
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| Preferred_Name |
Infantile Cortical Hyperostosis |
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| prefixIRI |
NCIT:C118423 |
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| prefLabel |
Infantile Cortical Hyperostosis |
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| Semantic_Type |
Disease or Syndrome |
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| subClassOf |