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ONTOLOGY REPORT - ANNOTATIONS


Term:acromicric dysplasia
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Accession:DOID:0111243 term browser browse the term
Definition:An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. (DO)
Synonyms:exact_synonym: ACMICD;   acromicric skeletal dysplasia;   geleophysic dwarfism
 primary_id: MESH:C535662
 alt_id: DOID:9003697;   OMIM:102370;   RDO:0000910
 xref: GARD:7;   ORDO:969
For additional species annotation, visit the Alliance of Genome Resources.


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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
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 15348
    Developmental Diseases 8349
      bone development disease 907
        osteochondrodysplasia 404
          acromicric dysplasia 5
            Geleophysic Dysplasia + 3
Path 2
Term Annotations click to browse term
  disease 15348
    disease of anatomical entity 14661
      musculoskeletal system disease 4028
        connective tissue disease 2597
          bone disease 2136
            bone development disease 907
              osteochondrodysplasia 404
                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.