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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:Squalene Synthase Deficiency
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Accession:DOID:9007732 term browser browse the term
Definition:An autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids.
Synonyms:exact_synonym: FDFT1-RELATED CONDITION;   NEURODEVELOPMENTAL DISORDER WITH LOW CHOLESTEROL AND ABNORMAL URINE ORGANIC ACIDS;   SQSD
 primary_id: OMIM:618156
 xref: EFO:0010167


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Squalene Synthase Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTSB cathepsin B ISO ClinVar Annotator: match by term: Squalene synthase deficiency ClinVar PMID:25741868 PMID:29909962 NCBI chr14:15,014,139...15,035,081
Ensembl chr14:15,011,711...15,033,877 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO ClinVar Annotator: match by term: FDFT1-related condition | ClinVar Annotator: match by term: Squalene synthase deficiency OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29909962 PMID:32027475 NCBI chr14:14,976,259...15,010,701
Ensembl chr14:14,967,074...15,016,227 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17415
    Nutritional and Metabolic Diseases 7079
      disease of metabolism 7079
        inherited metabolic disorder 5434
          Squalene Synthase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 17415
    Developmental Disease 17263
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17177
        genetic disease 17158
          inherited metabolic disorder 5434
            Squalene Synthase Deficiency 2
paths to the root