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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:Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
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Accession:DOID:9005572 term browser browse the term
Synonyms:exact_synonym: BOD Syndrome
 primary_id: MESH:C536242
 alt_id: MIM:113477


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Brachymorphism-Onychodysplasia-Dysphalangism Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Brachymorphism-onychodysplasia-dysphalangism syndrome ClinVar PMID:25741868 NCBI chr 5:171,495,042...171,521,143
Ensembl chr 5:171,495,776...171,521,145 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    syndrome 5304
      Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 1
Path 2
Term Annotations click to browse term
  disease 14566
    Pathological Conditions, Signs and Symptoms 9149
      Signs and Symptoms 6804
        Neurologic Manifestations 5934
          sensory system disease 4800
            skin disease 2824
              nail disease 63
                Malformed Nails 28
                  Brachymorphism-Onychodysplasia-Dysphalangism Syndrome 1
paths to the root