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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 (P blood group) ISO ClinVar Annotator: match by term: Infantile cortical hyperostosis ClinVar PMID:20971946 NCBI chr 7:114,368,525...114,392,872
Ensembl chr 7:114,368,276...114,396,071
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:mutation:exon:3040C>T (human)
DNA:missense mutation:exon:c.3040C>T(p.R836C)(human)
ClinVar Annotator: match by term: Caffey Disease | ClinVar Annotator: match by term: Infantile cortical hyperostosis
OMIM
ClinVar
RGD
PMID:2037280 PMID:2542316 PMID:2794057 PMID:7691343 PMID:7695699 More... RGD:5688296, RGD:11667069 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624
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 chr17:51,334,921...51,377,469
Ensembl chr17:51,334,921...51,377,469
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 chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
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: Dwarfism, cortical thickening of tubular bones and transient hypocalcemia | ClinVar Annotator: match by term: Kenny-Caffey syndrome type 2 OMIM
ClinVar
PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:25741868 More... NCBI chr 1:209,640,865...209,656,551
Ensembl chr 1:209,640,953...209,656,547
JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:51,290,143...51,336,090
Ensembl chr17:51,290,202...51,336,089
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18246
    Developmental Disease 13102
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11857
        Infant, Newborn, Diseases 1107
          Caffey disease 5
            Kenny-Caffey syndrome + 3
            Prenatal Cortical Hyperostosis, Lethal 0
Path 2
Term Annotations click to browse term
  disease 18246
    disease of anatomical entity 17610
      Skin and Connective Tissue Diseases 6836
        connective tissue disease 5158
          bone disease 3832
            bone development disease 1904
              osteochondrodysplasia 631
                Caffey disease 5
                  Kenny-Caffey syndrome + 3
                  Prenatal Cortical Hyperostosis, Lethal 0
paths to the root