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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: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;   Brazilian type acheiropody;   Horn-Kolb syndrome;   acheiropodia
 primary_id: MESH:C536014
 alt_id: OMIM:200500
 xref: GARD:376
For additional species annotation, visit the Alliance of Genome Resources.



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acheiropody term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmbr1 limb development membrane protein 1 ISO ClinVar Annotator: match by term: Acheiropodia OMIM
ClinVar
PMID:11090342 PMID:33863876 NCBI chr 4:5,974,687...6,146,348
Ensembl chr 4:5,974,750...6,146,368
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    physical disorder 4115
      Congenital Foot Deformities 87
        acheiropody 1
Path 2
Term Annotations click to browse term
  disease 18109
    Developmental Disease 12858
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11550
        Congenital Abnormalities 6693
          Musculoskeletal Abnormalities 2713
            Congenital Limb Deformities 601
              Lower Extremity Deformities, Congenital 96
                Congenital Foot Deformities 87
                  acheiropody 1
paths to the root