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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:distal arthrogryposis type 5D
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Accession:DOID:0111594 term browser browse the term
Definition:A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1. (DO)
Synonyms:exact_synonym: DA5D;   distal arthrogryposis type 5 without ophthalmoparesis;   distal arthrogryposis type 5 without ophthalmoplegia
 primary_id: OMIM:615065
 xref: ORDO:329457



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distal arthrogryposis type 5D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC100993088 endothelin-converting enzyme-like 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 5D OMIM
ClinVar
PMID:18414213 PMID:23236030 PMID:23261301 PMID:24782201 PMID:25099528 More... NCBI chr2B:119,711,355...119,719,378
Ensembl chr2B:238,630,731...238,637,233
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18006
    physical disorder 4909
      arthrogryposis multiplex congenita 241
        distal arthrogryposis 109
          distal arthrogryposis type 5D 1
Path 2
Term Annotations click to browse term
  disease 18006
    Developmental Disease 17892
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17809
        genetic disease 17793
          monogenic disease 10204
            autosomal genetic disease 9386
              autosomal recessive disease 6501
                arthrogryposis multiplex congenita 241
                  distal arthrogryposis 109
                    distal arthrogryposis type 5D 1
paths to the root