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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 type 2
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Accession:DOID:0080723 term browser browse the term
Definition:A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12. (DO)
Synonyms:exact_synonym: KCS2;   Kenny syndrome;   Kenny-Caffey syndrome 2;   dwarfism, cortical thickening of tubular bones, and transient hypocalcemia
 primary_id: MESH:C537020
 alt_id: OMIM:127000
 xref: GARD:83;   ORDO:93325
For additional species annotation, visit the Alliance of Genome Resources.


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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:29073591 PMID:32996714 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 16091
    syndrome 7036
      Kenny-Caffey syndrome 2
        Kenny-Caffey syndrome type 2 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      musculoskeletal system disease 5740
        connective tissue disease 4137
          bone disease 3507
            bone development disease 1307
              osteochondrodysplasia 441
                Caffey disease 5
                  Kenny-Caffey syndrome 2
                    Kenny-Caffey syndrome type 2 2
paths to the root