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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:Kenny-Caffey syndrome
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Accession:DOID:0080724 term browser browse the term
Definition:A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. (DO)
Synonyms:xref: OMIM:PS127000;   ORDO:2333
For additional species annotation, visit the Alliance of Genome Resources.


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Kenny-Caffey syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbce tubulin folding cofactor E ISO ClinVar Annotator: match by term: Kenny-Caffey syndrome type 1 OMIM
ClinVar
PMID:12389028, PMID:25097779, PMID:25741868, PMID:26336027 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
JBrowse link
Kenny-Caffey syndrome type 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam111a family with sequence similarity 111, member A ISO ClinVar Annotator: match by OMIM:127000
ClinVar Annotator: match by term: Kenny-Caffey syndrome type 2
OMIM
ClinVar
PMID:23684011, PMID:23996431, PMID:24635597, PMID:24970356 NCBI chr 1:229,003,778...229,019,532
Ensembl chr 1:229,003,961...229,019,527
JBrowse link
G Tbce tubulin folding cofactor E ISO CTD Direct Evidence: marker/mechanism CTD PMID:12389028 NCBI chr17:53,983,126...54,029,028
Ensembl chr17:53,983,182...54,029,027
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      Kenny-Caffey syndrome 2
        Kenny-Caffey syndrome type 1 1
        Kenny-Caffey syndrome type 2 2
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      Skin and Connective Tissue Diseases 5471
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              osteochondrodysplasia 445
                Caffey disease 4
                  Kenny-Caffey syndrome 2
                    Kenny-Caffey syndrome type 1 1
                    Kenny-Caffey syndrome type 2 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.