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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


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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		 ClinVar Annotator: match by term: Acheiropodia
CTD Direct Evidence: marker/mechanism
OMIM:200500		 OMIM
ClinVar
CTD
MouseDO		 PMID:11090342 PMID:33863876 NCBI chr 4:5,974,687...6,146,348
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 18969
    physical disorder 4965
      Congenital Foot Deformities 175
        acheiropody 1
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        Congenital Abnormalities 7583
          Musculoskeletal Abnormalities 3302
            Congenital Limb Deformities 1022
              Lower Extremity Deformities, Congenital 183
                Congenital Foot Deformities 175
                  acheiropody 1
paths to the root