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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Caffey disease
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Accession:DOID:4257 term browser browse the term
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. (DO)
Synonyms:exact_synonym: Caffey De Toni Silvermann Syndrome;   Familial Caffey Disease;   Familial Caffey's Disease;   Familial Caffeys Disease;   Familial Infantile Cortical Hyperostosis;   Infantile Cortical Hyperostoses;   congenital cortical hyperostoses;   cortical congenital hyperostosis;   infantile cortical hyperostosis
 primary_id: MESH:D006958
 alt_id: OMIM:114000
 xref: EFO:0004139;   GARD:1051;   ICD10CM:M89.8;   MONDO:0007244;   NCI:C118423;   NCI:C84645
For additional species annotation, visit the Alliance of Genome Resources.


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Caffey disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A4GALT alpha 1,4-galactosyltransferase (P1PK blood group) ISO ClinVar Annotator: match by term: Infantile cortical hyperostosis ClinVar PMID:20971946 PMID:28492532 NCBI chr22:23,587,378...23,615,467
Ensembl chr22:41,739,062...41,740,123 		JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis OMIM
ClinVar		 PMID:2037280 PMID:2542316 PMID:2794057 PMID:7691343 PMID:7695699 More... NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677 		JBrowse link
Kenny-Caffey syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 ISO ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome ClinVar PMID:2001103 PMID:7538982 PMID:9475091 PMID:12389028 PMID:15645691 More... NCBI chr 1:211,006,939...211,064,445
Ensembl chr 1:216,018,886...216,076,060 		JBrowse link
G TBCE tubulin folding cofactor E ISO ClinVar Annotator: match by term: Autosomal recessive Kenny-Caffey syndrome | ClinVar Annotator: match by term: Kenny-Caffey syndrome type 1 OMIM
ClinVar		 PMID:2001103 PMID:7538982 PMID:9475091 PMID:12389028 PMID:15645691 More... NCBI chr 1:210,881,078...211,008,686
Ensembl chr 1:215,929,658...216,020,613 		JBrowse link
Kenny-Caffey syndrome type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM111A FAM111 trypsin like peptidase A ISO ClinVar Annotator: match by term: Autosomal dominant Kenny-Caffey syndrome OMIM
ClinVar		 PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 More... NCBI chr11:54,359,711...54,372,132
Ensembl chr11:57,818,413...57,823,046 		JBrowse link
G TBCE tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr 1:210,881,078...211,008,686
Ensembl chr 1:215,929,658...216,020,613 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        Infant, Newborn, Diseases 1145
          Caffey disease 5
            Kenny-Caffey syndrome + 3
            Prenatal Cortical Hyperostosis, Lethal 0
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Skin and Connective Tissue Diseases 6860
        connective tissue disease 5332
          bone disease 3850
            bone development disease 2300
              osteochondrodysplasia 870
                Caffey disease 5
                  Kenny-Caffey syndrome + 3
                  Prenatal Cortical Hyperostosis, Lethal 0
paths to the root