{"_id":"MONDO:0007244","_version":1,"ctd":{"chemical_related_to_disease":{"cas_registry_number":"745-65-3","chemical_name":"Alprostadil","direct_evidence":"marker/mechanism","mesh_chemical_id":"D000527","pubmed":"3543871","source":"CTD"},"mesh":"D006958","pathway_related_to_disease":[{"inference_gene_symbol":"COL1A1","kegg_pathway_id":"hsa04151","pathway_name":"PI3K-Akt signaling pathway","source":"CTD"},{"inference_gene_symbol":"COL1A1","kegg_pathway_id":"hsa04510","pathway_name":"Focal adhesion","source":"CTD"},{"inference_gene_symbol":"COL1A1","kegg_pathway_id":"hsa04512","pathway_name":"ECM-receptor interaction","source":"CTD"},{"inference_gene_symbol":"COL1A1","kegg_pathway_id":"hsa04611","pathway_name":"Platelet activation","source":"CTD"},{"inference_gene_symbol":"COL1A1","kegg_pathway_id":"hsa04933","pathway_name":"AGE-RAGE signaling pathway in diabetic complications","source":"CTD"},{"inference_gene_symbol":"COL1A1","kegg_pathway_id":"hsa04974","pathway_name":"Protein digestion and absorption","source":"CTD"},{"inference_gene_symbol":"COL1A1","kegg_pathway_id":"hsa05146","pathway_name":"Amoebiasis","source":"CTD"},{"inference_gene_symbol":"COL1A1","pathway_name":"Extracellular matrix organization","react_pathway_id":"R-HSA-1474244","source":"CTD"},{"inference_gene_symbol":"COL1A1","pathway_name":"Collagen formation","react_pathway_id":"R-HSA-1474290","source":"CTD"},{"inference_gene_symbol":"COL1A1","pathway_name":"Collagen biosynthesis and modifying enzymes","react_pathway_id":"R-HSA-1650814","source":"CTD"},{"inference_gene_symbol":"COL1A1","pathway_name":"Assembly of collagen fibrils and other multimeric structures","react_pathway_id":"R-HSA-2022090","source":"CTD"},{"inference_gene_symbol":"COL1A1","pathway_name":"Binding and Uptake of Ligands by Scavenger Receptors","react_pathway_id":"R-HSA-2173782","source":"CTD"},{"inference_gene_symbol":"COL1A1","pathway_name":"Scavenging by Class A Receptors","react_pathway_id":"R-HSA-3000480","source":"CTD"},{"inference_gene_symbol":"COL1A1","pathway_name":"Vesicle-mediated transport","react_pathway_id":"R-HSA-5653656","source":"CTD"},{"inference_gene_symbol":"COL1A1","pathway_name":"Collagen chain trimerization","react_pathway_id":"R-HSA-8948216","source":"CTD"}]},"disease_ontology":{"_license":"https://github.com/DiseaseOntology/HumanDiseaseOntology/blob/master/DO_LICENSE.txt","ancestors":["DOID:0080001","DOID:65","DOID:4","DOID:17","DOID:3342","DOID:7"],"children":[],"def":"\"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.\" [url:http\\://en.wikipedia.org/wiki/Infantile_cortical_hyperostosis]","descendants":[],"doid":"DOID:4257","name":"Caffey disease","parents":["DOID:3342"],"synonyms":{"exact":["cortical congenital hyperostosis","infantile cortical hyperostosis"]},"xrefs":{"gard":"1051","icd10":"M89.8","mesh":"D006958","mim":"114000","ncit":"C84645","snomedct_us_2025_09_01":"24752008","umls_cui":"C0020497"}},"hpo":[{"disease_name":"Caffey disease","inheritance":{"biocuration":[{"date":"2009-02-17","name":"HPO:probinson"},{"date":"2022-04-23","name":"HPO:probinson"}],"evidence":"PCS","hpo_id":"HP:0000006","hpo_name":"Autosomal dominant inheritance","original_disease_id":"OMIM:114000","pmid_refs":"PMID:15864348"},"omim":"114000","phenotype_related_to_disease":[{"biocuration":{"date":"2012-07-16","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0002982","omim_refs":"OMIM:114000","original_disease_id":"OMIM:114000"},{"biocuration":{"date":"2012-08-03","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0005731","omim_refs":"OMIM:114000","original_disease_id":"OMIM:114000"},{"biocuration":{"date":"2022-04-23","name":"HPO:probinson"},"evidence":"PCS","hpo_id":"HP:0001382","original_disease_id":"OMIM:114000","pmid_refs":"PMID:15864348"},{"biocuration":{"date":"2022-04-23","name":"HPO:probinson"},"evidence":"PCS","freq_denominator":3,"freq_numerator":3,"hpo_id":"HP:0031485","numeric_freq":1.0,"original_disease_id":"OMIM:114000","pmid_refs":"PMID:15864348"},{"biocuration":{"date":"2024-08-03","name":"HPO:probinson"},"evidence":"PCS","hpo_id":"HP:6000811","original_disease_id":"OMIM:114000","pmid_refs":"PMID:24390061"},{"biocuration":{"date":"2012-07-30","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0004490","omim_refs":"OMIM:114000","onset":"HP:0003593","original_disease_id":"OMIM:114000"},{"biocuration":{"date":"2024-08-03","name":"HPO:probinson"},"evidence":"PCS","hpo_id":"HP:6000936","original_disease_id":"OMIM:114000","pmid_refs":"PMID:24390061"},{"biocuration":{"date":"2024-08-03","name":"HPO:probinson"},"evidence":"PCS","hpo_id":"HP:6000812","original_disease_id":"OMIM:114000","pmid_refs":"PMID:24390061"},{"biocuration":{"date":"2024-08-03","name":"HPO:probinson"},"evidence":"PCS","hpo_id":"HP:6000937","original_disease_id":"OMIM:114000","pmid_refs":"PMID:24390061"},{"biocuration":{"date":"2024-08-03","name":"HPO:probinson"},"evidence":"PCS","hpo_id":"HP:6000809","original_disease_id":"OMIM:114000","pmid_refs":"PMID:21249479"},{"biocuration":{"date":"2012-07-30","name":"HPO:probinson"},"clinical_modifier":"HP:0012825","evidence":"TAS","hpo_id":"HP:0002979","omim_refs":"OMIM:114000","onset":"HP:0003577","original_disease_id":"OMIM:114000"},{"biocuration":[{"date":"2009-02-17","name":"HPO:probinson"},{"date":"2022-04-23","name":"HPO:probinson"}],"evidence":"PCS","freq_denominator":3,"freq_numerator":3,"hpo_id":"HP:0006465","numeric_freq":1.0,"onset":"HP:0003593","original_disease_id":"OMIM:114000","pmid_refs":"PMID:15864348"},{"biocuration":{"date":"2009-02-17","name":"HPO:probinson"},"evidence":"TAS","hpo_id":"HP:0001945","omim_refs":"OMIM:114000","original_disease_id":"OMIM:114000"}]},{"disease_name":"Caffey disease","orphanet":"1310","phenotype_related_to_disease":[{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000324","orphanet_refs":"orphanet:1310"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0000520","orphanet_refs":"orphanet:1310"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0000708","orphanet_refs":"orphanet:1310"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0001945","orphanet_refs":"orphanet:1310"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002093","orphanet_refs":"orphanet:1310"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0002650","orphanet_refs":"orphanet:1310"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0004490","orphanet_refs":"orphanet:1310"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0005731","orphanet_refs":"orphanet:1310"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0005791","orphanet_refs":"orphanet:1310"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0006465","orphanet_refs":"orphanet:1310"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0008872","orphanet_refs":"orphanet:1310"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040283","hpo_id":"HP:0010702","orphanet_refs":"orphanet:1310"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040281","hpo_id":"HP:0100658","orphanet_refs":"orphanet:1310"},{"biocuration":{"date":"2026-06-23","name":"ORPHA:orphadata"},"evidence":"TAS","hp_freq":"HP:0040282","hpo_id":"HP:0100963","orphanet_refs":"orphanet:1310"}]}],"mondo":{"ancestors":["MONDO:7770009","MONDO:0000001","MONDO:0018230","MONDO:7770007","MONDO:0002185","MONDO:0005516","MONDO:0002614","MONDO:0021147","MONDO:7770008","MONDO:0005172","MONDO:7770006","MONDO:0700096","MONDO:0019702","MONDO:0005497","MONDO:0002081","MONDO:0005381","MONDO:0000833","MONDO:0003847"],"curated_content_resource":{"https":["https://search.clinicalgenome.org/kb/conditions/MONDO:0007244"]},"definition":"Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described. [Orphanet:1310]","disease_has_feature":{"hp":["HP:0000737"]},"has_material_basis_in_germline_mutation_in":{"http":["http://identifiers.org/hgnc/2197"]},"label":"Caffey disease","mondo":"MONDO:0007244","parents":["MONDO:0002185","MONDO:0002614","MONDO:0019702"],"synonym":{"exact":["Caffey disease","infantile cortical hyperostosis"]},"xrefs":{"doid":["DOID:4257"],"gard":["0001051"],"icd9":["756.59"],"medgen":["43781"],"mesh":["D006958"],"ncit":["C118423"],"omim":["114000"],"orphanet":["1310"],"sctid":["24752008"],"umls":["C0020497"]}},"original_id":"orphanet:1310","umls":{"_license":"https://www.nlm.nih.gov/research/umls/knowledge_sources/metathesaurus/release/license_agreement.html","icd10cm":{"non-preferred":"M89.8"},"mesh":{"non-preferred":"D006958","preferred":"D006958"},"nci":{"non-preferred":"C118423","preferred":"C84645"},"snomed":{"non-preferred":["123258003","24752008"]},"umls":"C0020497"}}