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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 3
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Accession:DOID:0111607 term browser browse the term
Definition:A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in PIEZO2 on chromosome 18p11.22-p11.21. (DO)
Synonyms:exact_synonym: DA3;   Gordon syndrome;   camptodactyly, cleft palate, and clubfoot;   camptodactyly-cleft palate-clubfoot syndrome;   distal arthrogryposis multiplex congenita, type 2a;   distal arthrogryposis multiplex congenita, type IIa
 primary_id: MESH:C537288
 alt_id: OMIM:114300
 xref: GARD:2553;   ORDO:376
For additional species annotation, visit the Alliance of Genome Resources.


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distal arthrogryposis type 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by OMIM:114300
ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot
OMIM
ClinVar
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      bone development disease 1414
        clubfoot 32
          distal arthrogryposis type 3 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        Congenital Abnormalities 5588
          Musculoskeletal Abnormalities 2238
            Craniofacial Abnormalities 1960
              Maxillofacial Abnormalities 242
                Jaw Abnormalities 230
                  orofacial cleft 129
                    cleft palate 95
                      distal arthrogryposis type 3 1
paths to the root