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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:pycnodysostosis
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Accession:DOID:0080038 term browser browse the term
Definition:An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. (DO)
Synonyms:exact_synonym: PKND;   PYCD;   pycnodysostoses;   pyknodysostoses;   pyknodysostosis
 primary_id: MESH:D058631
 alt_id: OMIM:265800
 xref: GARD:4611;   ORDO:763
For additional species annotation, visit the Alliance of Genome Resources.


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pycnodysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsk cathepsin K ISO ClinVar Annotator: match by OMIM:265800
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pyknodysostosis
OMIM
ClinVar
CTD
PMID:1350885, PMID:7663522, PMID:8328823, PMID:8703060, PMID:8938428, PMID:9529353, PMID:10074491, PMID:10491211, PMID:10571690, PMID:10634420, PMID:10878663, PMID:11181082, PMID:12125807, PMID:12874701, PMID:15070910, PMID:15163881, PMID:17206399, PMID:17397052, PMID:19674475, PMID:20044043, PMID:20814951, PMID:21099701, PMID:21217630, PMID:21569238, PMID:22822386, PMID:23506830, PMID:23786531, PMID:24057333, PMID:24269275, PMID:24767306, PMID:25741868, PMID:27092432, PMID:27558267, PMID:28492532, PMID:10469835 RGD:734856 NCBI chr 2:196,655,469...196,666,447
Ensembl chr 2:196,655,469...196,666,446
JBrowse link
G Igf1 insulin-like growth factor 1 ISO associated with Dwarfism; RGD PMID:11474477 RGD:8548826 NCBI chr 7:28,412,123...28,491,815
Ensembl chr 7:28,412,198...28,486,609
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        osteochondrodysplasia 445
          pycnodysostosis 2
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal recessive disease 2564
                pycnodysostosis 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.