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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 IAGP ClinVar Annotator: match by term: Skeletal dysplasia and progressive central nervous system degeneration, lethal ClinVar PMID:25741868 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20297
    Developmental Disease 13818
      bone development disease 1569
        Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal 1
Path 2
Term Annotations click to browse term
  disease 20297
    disease of anatomical entity 18901
      Skin and Connective Tissue Diseases 6148
        connective tissue disease 4640
          bone disease 3151
            bone development disease 1569
              Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal 1
paths to the root