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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 1C
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Accession:DOID:0112190 term browser browse the term
Definition:A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2. (DO)
Synonyms:exact_synonym: DA1C
 primary_id: OMIM:619110


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distal arthrogryposis type 1C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC112441444 Sharpr-MPRA regulatory region 9884 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C ClinVar PMID:32707087 NCBI chr16:30,377,708...30,378,190 JBrowse link
G MYL11 myosin light chain 11 IAGP ClinVar Annotator: match by term: Arthrogryposis, distal, type 1C OMIM
ClinVar		 PMID:25741868 PMID:32707087 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7135
      Congenital Foot Deformities 219
        distal arthrogryposis type 1 98
          distal arthrogryposis type 1C 2
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        peripheral nervous system disease 5382
          neuropathy 5129
            neuromuscular disease 4041
              muscular disease 2807
                muscle tissue disease 1715
                  distal arthrogryposis 124
                    distal arthrogryposis type 1 98
                      distal arthrogryposis type 1C 2
paths to the root