ONTOLOGY REPORT - ANNOTATIONS


Term:Acromicric Dysplasia
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Accession:DOID:9003697 term browser browse the term
Synonyms:exact_synonym: ACMICD;   Acromicric skeletal dysplasia;   Geleophysic dwarfism;   Geleophysic dysplasia
 primary_id: MESH:C535662
 alt_id: OMIM:102370;   RDO:0000910
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Acromicric Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:11554173
RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7240710
RGD:8554872
G Smad2 SMAD family member 2 JBrowse link 18 72,550,107 72,612,078 RGD:11554173
G Tgfb1 transforming growth factor, beta 1 JBrowse link 1 82,480,875 82,497,196 RGD:11554173
Geleophysic Dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
Geleophysic Dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:7240710
RGD:8554872
Geleophysic Dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:7240710
RGD:8554872
Geleophysic Dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      bone development disease 891
        Acromicric Dysplasia 5
          Geleophysic Dysplasia + 3
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              Acromicric Dysplasia 5
                Geleophysic Dysplasia + 3
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.