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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 1A
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Accession:DOID:0111597 term browser browse the term
Definition:In general, the distal arthrogryposes are a group of disorders characterized by contractures mainly involving the distal parts of the limbs. The hands have a characteristic position with medially overlapping fingers, clenched fists, ulnar deviation of fingers, and camptodactyly, and the feet have deformities. Contractures at other joints are variable; there are no associated visceral anomalies, and intelligence is normal. Distal arthrogryposis type 1A (DA1A) and type 2B4 (DA2B4) are caused by heterozygous mutation in the TPM2 gene on chromosome 9p13. (OMIM)
Synonyms:exact_synonym: DA1A
 primary_id: OMIM:108120
For additional species annotation, visit the Alliance of Genome Resources.


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distal arthrogryposis type 1A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cntnap1 contactin associated protein 1 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25326635, PMID:25741868, PMID:28374019, PMID:32214227 NCBI chr10:89,087,904...89,103,615
Ensembl chr10:89,089,646...89,103,614
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar NCBI chr 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Myh3 myosin heavy chain 3 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25741868 NCBI chr10:53,621,375...53,645,194
Ensembl chr10:53,621,375...53,645,194
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A ClinVar PMID:25741868 NCBI chr10:53,818,818...53,848,490
Ensembl chr10:53,818,818...53,918,524
JBrowse link
G Tpm2 tropomyosin 2 ISO ClinVar Annotator: match by term: Distal arthrogryposis type 1A OMIM
ClinVar
PMID:7977374, PMID:11738357, PMID:12592607, PMID:17194691, PMID:17846275, PMID:18414213, PMID:18420702, PMID:18422639, PMID:19047562, PMID:22084935, PMID:22832343, PMID:22980765, PMID:23689010, PMID:23757202, PMID:23886664, PMID:24033266, PMID:24039757, PMID:24657080, PMID:24692096, PMID:25741868, PMID:25978979, PMID:26467025, PMID:26752647, PMID:28492532 NCBI chr 5:59,016,616...59,025,971
Ensembl chr 5:59,016,622...59,025,631
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8365
        genetic disease 7848
          monogenic disease 5627
            autosomal genetic disease 4631
              autosomal dominant disease 2996
                distal arthrogryposis type 1A 5
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        peripheral nervous system disease 2472
          neuropathy 2293
            neuromuscular disease 1775
              muscular disease 1196
                muscle tissue disease 809
                  distal arthrogryposis 20
                    distal arthrogryposis type 1 6
                      distal arthrogryposis type 1A 5
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.