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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: MIM:200500
 xref: GARD:376


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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:200500
ClinVar Annotator: match by term: Acheiropodia		 OMIM
CTD
MouseDO
ClinVar		 PMID:11090342 PMID:24965254 PMID:25741868 PMID:33863876 NCBI chr 4:6,649,824...6,820,525
Ensembl chr 4:5,974,750...6,146,368 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    physical disorder 5206
      Congenital Foot Deformities 192
        acheiropody 1
Path 2
Term Annotations click to browse term
  disease 19139
    Developmental Disease 14674
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13724
        Congenital Abnormalities 7894
          Musculoskeletal Abnormalities 3458
            Congenital Limb Deformities 1068
              Congenital Upper Extremity Deformities 232
                Congenital Hand Deformities 203
                  acheiropody 1
paths to the root