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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:Disproportionate Tall Stature
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Accession:DOID:9005890 term browser browse the term
Definition:A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim.
Synonyms:primary_id: HP:0001519


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Disproportionate Tall Stature term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Disproportionate tall stature ClinVar NCBI chr 9:47,374,611...47,410,547
Ensembl chr 9:47,374,593...47,410,547 		JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Disproportionate tall stature ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:47,448,741...47,598,134
Ensembl chr 9:47,448,736...47,598,154 		JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Disproportionate tall stature ClinVar PMID:7870075 PMID:8653794 PMID:8723076 PMID:9399842 PMID:9837823 More... NCBI chr 3:112,554,257...112,750,835
Ensembl chr 3:112,554,925...112,750,889 		JBrowse link
G Mylk myosin light chain kinase ISO ClinVar Annotator: match by term: Disproportionate tall stature ClinVar PMID:25741868 PMID:28492532 NCBI chr11:65,783,008...66,030,239
Ensembl chr11:65,783,008...66,030,261 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Disproportionate tall stature ClinVar PMID:10564585 PMID:25741868 PMID:28492532 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Ski Ski proto-oncogene ISO ClinVar Annotator: match by term: Disproportionate tall stature ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733 		JBrowse link
G Slc2a10 solute carrier family 2 member 10 ISO ClinVar Annotator: match by term: Disproportionate tall stature ClinVar NCBI chr 3:154,240,395...154,252,690
Ensembl chr 3:154,240,391...154,252,690 		JBrowse link
G Tgfbr1 transforming growth factor, beta receptor 1 ISO ClinVar Annotator: match by term: Disproportionate tall stature ClinVar PMID:16799921 PMID:19542084 PMID:26848186 PMID:26877057 PMID:28492532 More... NCBI chr 5:61,653,773...61,710,777
Ensembl chr 5:61,653,233...61,710,777 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      bone development disease 2303
        Disproportionate Tall Stature 8
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2303
              Disproportionate Tall Stature 8
paths to the root