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ONTOLOGY REPORT - ANNOTATIONS


Term:Caffey disease
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Accession:DOID:4257 term browser browse the term
Definition:A disease of young infants characterized by soft tissue swellings over the affected bones, fever, and irritability, and marked by periods of remission and exacerbation. (Dorland, 27th ed)
Synonyms:exact_synonym: Caffey De Toni Silvermann Syndrome;   Congenital Cortical Hyperostoses;   Familial Caffey Disease;   Familial Caffey's Disease;   Familial Caffeys Disease;   Familial Infantile Cortical Hyperostosis;   Infantile Cortical Hyperostoses;   Infantile Cortical Hyperostosis;   cortical congenital hyperostosis
 primary_id: MESH:D006958;   RDO:0002425
 alt_id: OMIM:114000
 xref: GARD:1051
For additional species annotation, visit the Alliance of Genome Resources.


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Caffey disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G A4galt alpha 1,4-galactosyltransferase JBrowse link 7 124,085,832 124,110,440 RGD:8554872
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:5688296
RGD:8554872
RGD:11667069
RGD:7240710
Kenny Caffey Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fam111a family with sequence similarity 111, member A JBrowse link 1 229,003,778 229,019,532 RGD:7240710
RGD:8554872
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:11554173
Kenny-Caffey Syndrome, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:7240710
RGD:8554872
normophosphatemic familial tumoral calcinosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Samd9 sterile alpha motif domain containing 9 JBrowse link 4 28,304,967 28,324,637 RGD:7240710
RGD:8554872
Prenatal Cortical Hyperostosis, Lethal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col1a1 collagen type I alpha 1 chain JBrowse link 10 82,745,801 82,762,790 RGD:8554872
Worth Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrp5 LDL receptor related protein 5 JBrowse link 1 218,816,833 218,920,147 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Infant, Newborn, Diseases 403
          Caffey disease 6
            Kenny Caffey Syndrome 2
            Kenny-Caffey Syndrome, Type 1 1
            Prenatal Cortical Hyperostosis, Lethal 1
            Worth Syndrome 1
            normophosphatemic familial tumoral calcinosis 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      Skin and Connective Tissue Diseases 3888
        connective tissue disease 2568
          bone disease 2114
            bone development disease 891
              osteochondrodysplasia 402
                Caffey disease 6
                  Kenny Caffey Syndrome 2
                  Kenny-Caffey Syndrome, Type 1 1
                  Prenatal Cortical Hyperostosis, Lethal 1
                  Worth Syndrome 1
                  normophosphatemic familial tumoral calcinosis 1
paths to the root