Infantile Nephronophthisis

Alias:
Autosomal Recessive Infantile Nephronophthisis
Autosomal Recessive Infantile Nphp
Nephronophthisis 2
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Infantile Nephronophthisis, also known as autosomal recessive infantile nephronophthisis, is related to nephronophthisis 2 and juvenile nephronophthisis. An important gene associated with Infantile Nephronophthisis is INVS (Inversin), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Bardet-Biedl syndrome. Affiliated tissues include kidney, and related phenotypes are renal/urinary system and embryo
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Antenatal
--
7
56
11

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
Function
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
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IF
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