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RGD uses the Human Disease Ontology (DO, 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.

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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

show annotations for term's descendants           Sort by:
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
CTD Direct Evidence: marker/mechanism
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 21108
    physical disorder 4883
      Congenital Foot Deformities 174
        acheiropody 1
Path 2
Term Annotations click to browse term
  disease 21108
    Developmental Disease 18429
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18284
        Congenital Abnormalities 7410
          Musculoskeletal Abnormalities 3206
            Congenital Limb Deformities 1015
              Lower Extremity Deformities, Congenital 182
                Congenital Foot Deformities 174
                  acheiropody 1
paths to the root