ONTOLOGY REPORT - ANNOTATIONS


Term:pycnodysostosis
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Accession:DOID:0080038 term browser browse the term
Definition:Rare autosomal recessive syndrome characterized by delayed closing of CRANIAL SUTURES, short stature, ACRO-OSTEOLYSIS of distal phalanges, dental and MAXILLOFACIAL ABNORMALITIES and an increase in bone density that results in frequent BONE FRACTURES. It is associated with BONE RESORPTION defect due to mutations in the lysosomal cysteine protease CATHEPSIN K.
Synonyms:exact_synonym: PKND;   PYCD;   Pycnodysostoses;   Pyknodysostoses;   Pyknodysostosis
 primary_id: MESH:D058631
 alt_id: OMIM:265800;   RDO:0007845
 xref: GARD:4611
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pycnodysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsk cathepsin K JBrowse link 2 196,655,469 196,666,447 RGD:734856
RGD:7240710
RGD:8554872
RGD:11554173
G Igf1 insulin-like growth factor 1 JBrowse link 7 28,412,123 28,491,815 RGD:8548826

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      bone development disease 896
        osteochondrodysplasia 406
          pycnodysostosis 2
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14096
      musculoskeletal system disease 4002
        connective tissue disease 2587
          bone disease 2126
            bone development disease 896
              osteochondrodysplasia 406
                pycnodysostosis 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.