External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome

Alias:
Rasmussen-Johnsen-Thomsen Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
External Auditory Canal Atresia-Vertical Talus-Hypertelorism Syndrome, also known as rasmussen-johnsen-thomsen syndrome, is related to external auditory canal, bilateral atresia of, with congenital vertical talus. Affiliated tissues include bone, and related phenotypes are atresia of the external auditory canal and hearing impairment
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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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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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