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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: NEURODEVELOPMENTAL DISORDER WITH LOW CHOLESTEROL AND ABNORMAL URINE ORGANIC ACIDS;   SQSD
 primary_id: OMIM:618156
For additional species annotation, visit the Alliance of Genome Resources.



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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 chr15:37,389,636...37,410,508
Ensembl chr15:37,389,629...37,410,500
JBrowse link
G Fdft1 farnesyl diphosphate farnesyl transferase 1 ISO ClinVar Annotator: match by term: SQUALENE SYNTHASE DEFICIENCY
ClinVar Annotator: match by term: Squalene synthase deficiency
ClinVar
OMIM
PMID:25741868 PMID:29909962 PMID:32027475 NCBI chr15:37,412,143...37,440,198
Ensembl chr15:37,412,146...37,440,287
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Nutritional and Metabolic Diseases 5565
      disease of metabolism 5565
        inherited metabolic disorder 2649
          Squalene Synthase Deficiency 2
Path 2
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          inherited metabolic disorder 2649
            Squalene Synthase Deficiency 2
paths to the root