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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:Leukotriene C4 Synthase Deficiency
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Accession:DOID:9002023 term browser browse the term
Synonyms:exact_synonym: LTC4 Synthase Deficiency
 primary_id: MESH:C565439
 alt_id: MIM:614037


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Leukotriene C4 Synthase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltc4s leukotriene C4 synthase ISO ClinVar Annotator: match by term: LTC4 SYNTHASE DEFICIENCY
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25741868 NCBI chr10:35,060,002...35,066,466
Ensembl chr10:35,061,437...35,063,768 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Nutritional and Metabolic Diseases 4637
      disease of metabolism 4637
        inherited metabolic disorder 3387
          Leukotriene C4 Synthase Deficiency 1
Path 2
Term Annotations click to browse term
  disease 14566
    Developmental Disease 8303
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7730
        genetic disease 7261
          inherited metabolic disorder 3387
            Leukotriene C4 Synthase Deficiency 1
paths to the root