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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 FBN2 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
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital contractural arachnodactyly 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              muscular disease 1168
                Arthrogryposis 94
                  distal arthrogryposis 20
                    congenital contractural arachnodactyly 1
paths to the root