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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
 broad_synonym: FBN2-RELATED CONDITION
 primary_id: MESH:C536211
 alt_id: MIM: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: Contractures, multiple with arachnodactyly | ClinVar Annotator: match by term: Ear anomalies-contractures-dysplasia of bone with kyphoscoliosis
ClinVar Annotator: match by term: Arachnodactyly, contractural Beals type | ClinVar Annotator: match by term: Arthrogryposis, distal, type 9 | ClinVar Annotator: match by term: Beals syndrome | ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Congenital contractural arachnodactyly | ClinVar Annotator: match by term: Contractures, multiple with 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:7606779 PMID:7633409 More... RGD:1300364 NCBI chr18:53,696,197...53,901,992
Ensembl chr18:51,499,737...51,703,976 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19143
    physical disorder 5203
      congenital contractural arachnodactyly 1
Path 2
Term Annotations click to browse term
  disease 19143
    disease of anatomical entity 18456
      musculoskeletal system disease 8470
        connective tissue disease 5925
          bone disease 4372
            bone inflammation disease 1563
              arthropathy 1542
                arthrogryposis multiplex congenita 262
                  distal arthrogryposis 107
                    congenital contractural arachnodactyly 1
paths to the root