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ONTOLOGY REPORT - ANNOTATIONS


Term:Osteopoikilosis
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Accession:DOID:11991 term browser browse the term
Definition:An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous lesions. These are yellowish papules or plaques with increased elastin content. (From Cecil Textbook of Medicine, 19th ed, pp1434-35)
Synonyms:exact_synonym: Osteopoikiloses
 primary_id: MESH:D010023;   RDO:0001479
 xref: GARD:4158;   NCI:C84985
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
Osteopoikilosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lemd3 LEM domain containing 3 JBrowse link 7 62,976,671 63,045,860 RGD:8554872
Buschke-Ollendorff Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Eln elastin JBrowse link 12 24,978,478 25,021,864 RGD:9585749
G Lemd3 LEM domain containing 3 JBrowse link 7 62,976,671 63,045,860 RGD:7240710
RGD:8554872
RGD:11553840
RGD:11553842
RGD:11553843
RGD:11553844
Melorheostosis with Osteopoikilosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lemd3 LEM domain containing 3 JBrowse link 7 62,976,671 63,045,860 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      musculoskeletal system disease 4277
        connective tissue disease 2775
          Osteopoikilosis 2
            Buschke-Ollendorff Syndrome 2
            Isolated Osteopoikilosis 0
            Melorheostosis with Osteopoikilosis 1
            Osteopoikilosis and Dacryocystitis 0
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      musculoskeletal system disease 4277
        connective tissue disease 2775
          bone disease 2227
            bone development disease 994
              osteochondrodysplasia 408
                osteosclerosis 44
                  Osteopoikilosis 2
                    Buschke-Ollendorff Syndrome 2
                    Isolated Osteopoikilosis 0
                    Melorheostosis with Osteopoikilosis 1
                    Osteopoikilosis and Dacryocystitis 0
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.