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Sitosterolemia 2 (STSL2)

Alias:
Stsl2
Sitosterolemia, Type 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Sitosterolemia 2, also known as stsl2, is related to sitosterolemia and short-rib thoracic dysplasia 15 with polydactyly. An important gene associated with Sitosterolemia 2 is ABCG5 (ATP Binding Cassette Subfamily G Member 5). Related phenotypes are hypercholesterolemia and tendon xanthomatosis
Related ID：
MALACARDS：STS011
OMIM：618666
MESH：D008052

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
--
2
7
14
STS011

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
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Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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