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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;   Acheiropodia;   Brazilian type acheiropody;   Horn-Kolb syndrome
 primary_id: MESH:C536014
 alt_id: OMIM:200500;   RDO:0001424
 xref: GARD:376
For additional species annotation, visit the Alliance of Genome Resources.


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 OMIM:200500 OMIM
ClinVar
PMID:11090342 NCBI chr 4:2,116,094...2,274,111
Ensembl chr 4:2,116,094...2,201,749
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      bone development disease 1336
        osteochondrodysplasia 445
          acheiropody 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Congenital Limb Deformities 504
              Lower Extremity Deformities, Congenital 129
                Congenital Foot Deformities 121
                  acheiropody 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.