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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 ECEL1 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
For additional species annotation, visit the Alliance of Genome Resources.


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distal arthrogryposis type 5D term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ecel1 endothelin converting enzyme-like 1 ISO ClinVar Annotator: match by OMIM:615065
ClinVar Annotator: match by term: Arthrogryposis, distal, type 5d
ClinVar Annotator: match by term: Distal arthrogryposis type 5D
OMIM
ClinVar
PMID:23236030 PMID:23261301 PMID:25099528 PMID:25741868 PMID:26752647 NCBI chr 9:94,238,568...94,252,484
Ensembl chr 9:94,239,006...94,250,809
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      musculoskeletal system disease 5736
        Joint Diseases 1139
          Arthrogryposis 94
            distal arthrogryposis 20
              distal arthrogryposis type 5D 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        peripheral nervous system disease 2425
          neuropathy 2241
            neuromuscular disease 1763
              muscular disease 1168
                muscle tissue disease 791
                  distal arthrogryposis 20
                    distal arthrogryposis type 5D 1
paths to the root