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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:Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
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Accession:DOID:9004825 term browser browse the term
Synonyms:primary_id: MESH:C566514
 alt_id: OMIM:602613
For additional species annotation, visit the Alliance of Genome Resources.



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Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TRPV4 transient receptor potential cation channel subfamily V member 4 ISO ClinVar Annotator: match by term: Skeletal dysplasia and progressive central nervous system degeneration, lethal ClinVar PMID:25741868 NCBI chr26:17,293,334...17,330,156
Ensembl chr26:17,262,100...17,330,165
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13846
    Developmental Disease 10402
      bone development disease 1385
        Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal 1
Path 2
Term Annotations click to browse term
  disease 13846
    disease of anatomical entity 13505
      Skin and Connective Tissue Diseases 5174
        connective tissue disease 3921
          bone disease 2655
            bone development disease 1385
              Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal 1
paths to the root