ONTOLOGY REPORT - ANNOTATIONS


Term:acheiropody
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Accession:DOID:0050603 term browser browse the term
Definition:An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. (DO)
Synonyms:exact_synonym: ACHP;   Acheiropodia;   Brazilian type acheiropody;   Horn-Kolb syndrome
 primary_id: MESH:C536014
 alt_id: OMIM:200500;   RDO:0001424
 xref: GARD:376
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acheiropody term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lmbr1 limb development membrane protein 1 JBrowse link 4 2,116,094 2,274,111 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      bone development disease 895
        osteochondrodysplasia 406
          acheiropody 1
Path 2
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        Congenital Abnormalities 3197
          Musculoskeletal Abnormalities 1196
            Congenital Limb Deformities 344
              Lower Extremity Deformities, Congenital 75
                Congenital Foot Deformities 68
                  acheiropody 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.