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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:CHITOTRIOSIDASE DEFICIENCY
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Accession:DOID:9004182 term browser browse the term
Synonyms:exact_synonym: CHITD
 primary_id: MIM:614122;   RDO:9001393


show annotations for term's descendants           Sort by:
CHITOTRIOSIDASE DEFICIENCY term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chit1 chitinase 1 ISO ClinVar Annotator: match by term: Chitotriosidase deficiency OMIM
ClinVar		 PMID:9748235 PMID:17464953 PMID:17693102 PMID:23430552 PMID:23430794 More... NCBI chr13:45,565,841...45,613,593
Ensembl chr13:45,593,845...45,613,592 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Nutritional and Metabolic Diseases 8525
      disease of metabolism 8525
        inherited metabolic disorder 6611
          CHITOTRIOSIDASE DEFICIENCY 1
Path 2
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13536
        genetic disease 13199
          inherited metabolic disorder 6611
            CHITOTRIOSIDASE DEFICIENCY 1
paths to the root