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Hyperostosis, Cortical, Congenital

Disease ID: disease_node_4127

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DbxrefGARD:1051, ICD10CM:M89.8, MESH:D006958, MIM:114000, NCI:C84645, SNOMEDCT_US_2023_03_01:24752008, UMLS_CUI:C0020497
SubclassofDOID_3342
Data SourceDOID, MESH
Synonymscortical congenital hyperostosis, infantile cortical hyperostosis
Mesh IdD006958
Mesh LabelHyperostosis, Cortical, Congenital
Mesh SubclassofD010009, D015576, D007232
Doid LabelCaffey disease
Doid DescriptionA 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].
Has SymptomSYMP_0000654
Disease Node Iddisease_node_4127
Doid IdDOID_4257
LabelHyperostosis, Cortical, Congenital