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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:brachydactyly type B2
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Accession:DOID:0110975 term browser browse the term
Definition:A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. (DO)
Synonyms:exact_synonym: BDB2
 primary_id: OMIM:611377
 alt_id: RDO:0009521
 xref: ICD10CM:Q73.8;   ORDO:140908
For additional species annotation, visit the Alliance of Genome Resources.


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brachydactyly type B2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nog noggin no_association ISO ClinVar Annotator: match by OMIM:611377
DNA:mutations:cds:
DNA:mutation:cds:p.G92E(human)
ClinVar Annotator: match by term: Brachydactyly type B2
OMIM
ClinVar
PMID:9851982, PMID:11160400, PMID:11857750, PMID:17668388, PMID:18440889, PMID:25741868, PMID:17668388, PMID:22529972 RGD:12801481, RGD:12801483 NCBI chr10:76,811,759...76,813,386
Ensembl chr10:76,811,759...76,813,386
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          brachydactyly type B2 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              dysostosis 344
                brachydactyly 37
                  brachydactyly type B2 1
paths to the root

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