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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: Autosomal recessive Kenny-Caffey syndrome
ClinVar Annotator: match by term: Kenny-Caffey syndrome type 1		 OMIM
ClinVar		 PMID:12389028 PMID:25097779 PMID:25741868 PMID:26336027 PMID:28492532 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 OMIM:127000
ClinVar Annotator: match by term: Kenny-Caffey syndrome type 2		 OMIM
ClinVar		 PMID:23684011 PMID:23996431 PMID:24635597 PMID:24970356 PMID:28492532 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 17208
    syndrome 8125
      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 17208
    disease of anatomical entity 16554
      Skin and Connective Tissue Diseases 5812
        connective tissue disease 4421
          bone disease 3108
            bone development disease 1414
              osteochondrodysplasia 478
                Caffey disease 4
                  Kenny-Caffey syndrome 2
                    Kenny-Caffey syndrome type 1 1
                    Kenny-Caffey syndrome type 2 2
paths to the root