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ONTOLOGY REPORT - ANNOTATIONS


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: NEURODEVELOPMENTAL DISORDER WITH LOW CHOLESTEROL AND ABNORMAL URINE ORGANIC ACIDS;   SQSD
 primary_id: OMIM:618156
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Squalene Synthase Deficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ctsb cathepsin B JBrowse link 15 46,316,741 46,337,613 RGD:8554872
G Fdft1 farnesyl diphosphate farnesyl transferase 1 JBrowse link 15 46,339,248 46,367,302 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15626
    Nutritional and Metabolic Diseases 4376
      disease of metabolism 4376
        inherited metabolic disorder 1864
          Squalene Synthase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 15626
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          inherited metabolic disorder 1864
            Squalene Synthase Deficiency 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.