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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:congenital contractural arachnodactyly
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Accession:DOID:0111595 term browser browse the term
Definition:A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3. (DO)
Synonyms:exact_synonym: Beals syndrome;   Beals-Hecht syndrome;   CCA;   DA9;   contractural arachnodactyly, Beals type;   distal arthrogryposis type 9;   ear anomalies-contractures-dysplasia of bone with kyphoscoliosis;   multiple contractures with arachnodactyly
 primary_id: MESH:C536211
 alt_id: OMIM:121050
 xref: NCI:C129865;   ORDO:115



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congenital contractural arachnodactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
OMIM
CTD
ClinVar
RGD
PMID:3495735 PMID:4750422 PMID:7493032 PMID:7633409 PMID:8653794 More... RGD:1300364 NCBI chr18:51,499,670...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21142
    physical disorder 4940
      congenital contractural arachnodactyly 1
Path 2
Term Annotations click to browse term
  disease 21142
    disease of anatomical entity 18190
      musculoskeletal system disease 8236
        connective tissue disease 5731
          bone disease 4242
            bone inflammation disease 1490
              arthropathy 1469
                arthrogryposis multiplex congenita 241
                  distal arthrogryposis 108
                    congenital contractural arachnodactyly 1
paths to the root