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Oto-Palatal-Digital Syndrome

Alias:
Oto-Palato-Digital Syndrome Type 1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Oto-Palatal-Digital Syndrome, also known as oto-palato-digital syndrome type 1, is related to otopalatodigital syndrome, type ii and hydrocephalus with cerebellar agenesis. An important gene associated with Oto-Palatal-Digital Syndrome is FLNA (Filamin A). Affiliated tissues include lung and skin.
Related ID：
MALACARDS：OTP003

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
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1
6
34
OTP003

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
Journal
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IF
No Data Found!
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