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RGD uses the Human Disease Ontology (DO, 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.

show annotations for term's descendants           Sort by:
congenital contractural arachnodactyly term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by OMIM:121050
ClinVar Annotator: match by null
ClinVar Annotator: match by term: Congenital contractural arachnodactyly
ClinVar Annotator: match by term: Beals-Hecht syndrome
PMID:3495735, PMID:4750422, PMID:7493032, PMID:7633409, PMID:8653794, PMID:8900230, PMID:9106527, PMID:9199560, PMID:9737771, PMID:10612827, PMID:10797416, PMID:11285249, PMID:11470817, PMID:11754102, PMID:15121784, PMID:16531736, PMID:16677079, PMID:16835936, PMID:17345643, PMID:17935258, PMID:18414213, PMID:18767143, PMID:19006240, PMID:20301560, PMID:20799338, PMID:22325249, PMID:23148498, PMID:24033266, PMID:24833718, PMID:24899048, PMID:25326635, PMID:25525159, PMID:25741868, PMID:25944730, PMID:26038974, PMID:26133393, PMID:27196565, PMID:28383543, PMID:28492532, PMID:29907982, PMID:29926239, PMID:30311386, PMID:30675029, PMID:31316167, PMID:11754102 RGD:1300364 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      musculoskeletal system disease 5713
        Joint Diseases 1168
          Contracture 96
            congenital contractural arachnodactyly 1
Path 2
Term Annotations click to browse term
  disease 16096
    disease of anatomical entity 15346
      nervous system disease 10864
        peripheral nervous system disease 2471
          neuropathy 2292
            neuromuscular disease 1774
              muscular disease 1196
                Arthrogryposis 96
                  distal arthrogryposis 20
                    congenital contractural arachnodactyly 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.