Martinez-Frias Syndrome

Alias:
Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia, with or Without Tracheoesophageal Fistula
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Martinez-Frias Syndrome, also known as pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula, is related to mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly and mitchell-riley syndrome. Affiliated tissues include pancreas, and related phenotypes are intrauterine growth retardation and tracheoesophageal fistula

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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4

Medical Symptom

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

Gene & Mutation

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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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IF
No Data Found!
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