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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:Aquaporin 1 Deficiency
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Accession:DOID:9004180 term browser browse the term
Synonyms:exact_synonym: COLTON-NULL
 primary_id: OMIM:110450



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Aquaporin 1 Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO OMIM NCBI chr 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          Aquaporin 1 Deficiency 1
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