Sitosterolemia

Preferred Label : Sitosterolemia;

NCIt definition : An extremely rare autosomal recessive inherited disorder caused by mutations in the ABCG5 or ABCG8 genes. It is characterized by a defective sterolin transporter that impairs the elimination of plant sterols and, to a lesser degree, cholesterol from the body. These fatty substances build up in the tissues including arteries and skin, resulting in atherosclerosis and xanthomas.;

Details

Origin ID

C125694;

UMLS CUI

C0342907;

Currated CISMeF NLP mapping
- Phytosterolemia [MedDRA LLT]
- Sitosterolemia [ORDO Disease]
- Sitosterolemia [MeSH concept]
- Sitosterolemia [MedDRA LLT]
- Sitosterolemia (disorder) [SNOMED CT concept]
- Sitosterolemia 1 [OMIM Phenotype]
- sitosterolemia [MeSH Supplementary Concept]
- sitosterolemia [DO Concept]
DO Cross reference
- sitosterolemia [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Phytosterolaemia [MedDRA Preferred Term]
- Phytosterolemia [MedDRA LLT]
- Pseudohomozygous familial hypercholesterolaemia [MedDRA LLT]
- Pseudohomozygous familial hypercholesterolemia [MedDRA LLT]
- Sitosterolaemia [MedDRA LLT]
- Sitosterolaemia [ICD-11 More detail]
- Sitosterolemia [ORDO Disease]
- Sitosterolemia [MedDRA LLT]
- Sitosterolemia [MeSH concept]
- Sitosterolemia (disorder) [SNOMED CT concept]
- Sitosterolemia 1 [OMIM Phenotype]
- sitosteolaemia [Disease (Nov.)]
- sitosterolemia [DO Concept]
- sitosterolemia [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- ABCG5 Gene [NCIt concept]
- ABCG8 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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