Hirschsprung Disease-Deafness-Polydactyly Syndrome

Alias:
Hirschsprung Disease-Hearing Loss-Polydactyly Syndrome
Santos-Mateus-Leal Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hirschsprung Disease-Deafness-Polydactyly Syndrome, also known as hirschsprung disease-hearing loss-polydactyly syndrome, is related to hirschsprung disease with polydactyly, renal agenesis, and deafness. Affiliated tissues include colon, and related phenotypes are aganglionic megacolon and foot polydactyly
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
<1/1000000
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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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No data available

Related Drugs

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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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