Deafness, Autosomal Dominant 73 (DFNA73)

Alias:
Dfna73
Deafness, Autosomal Dominant, Type 73
Hearing Loss, Autosomal Dominant 73
Deafness, Autosomal Dominant, 73
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Deafness, Autosomal Dominant 73, also known as dfna73, is related to contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a and deafness, autosomal recessive 84a. An important gene associated with Deafness, Autosomal Dominant 73 is PTPRQ (Protein Tyrosine Phosphatase Receptor Type Q). Related phenotype is sensorineural hearing impairment.
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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1
6
1

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
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