Choanal Atresia and Lymphedema (CATLPH)

Alias:
Lymphedema-Posterior Choanal Atresia Syndrome
Catlph
Atresia, Choanal, and Lymphedema
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Choanal Atresia and Lymphedema, also known as lymphedema-posterior choanal atresia syndrome, is related to choanal atresia, posterior and hereditary lymphedema i. An important gene associated with Choanal Atresia and Lymphedema is PTPN14 (Protein Tyrosine Phosphatase Non-Receptor Type 14). Affiliated tissues include skin, and related phenotypes are choanal atresia and lymphedema
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
1
7
3

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

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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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