Senior-Boichis Syndrome

Alias:
Nephronophthisis-Hepatic Fibrosis Syndrome
Boichis Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Senior-Boichis Syndrome, also known as nephronophthisis-hepatic fibrosis syndrome, is related to nephronophthisis and cone-rod dystrophy 2. An important gene associated with Senior-Boichis Syndrome is DCDC2 (Doublecortin Domain Containing 2), and among its related pathways/superpathways are Bardet-Biedl syndrome and Ciliopathies. Affiliated tissues include kidney and liver, and related phenotypes are hypertension and polydipsia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
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2
10
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Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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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
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IF
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