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Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness

Alias:
Santos Mateus Leal Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness, is also known as santos mateus leal syndrome. Related phenotypes are hearing impairment and hypertelorism
Related ID：
MALACARDS：HRS039
OMIM：235740

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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1
HRS039

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

Title
PMID
Journal
Year
IF
No Data Found!
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