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Ermine Phenotype

Alias:
Pigmentary Disorder with Hearing Loss
Pigmentary Disorder with Deafness
O'doherty Syndrome
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ermine Phenotype, also known as pigmentary disorder with hearing loss, is related to sensorineural hearing loss and microcephaly. Affiliated tissues include skin and brain, and related phenotypes are sensorineural hearing impairment and hypopigmentation of hair
Related ID：
MALACARDS：ERM001
OMIM：227010

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
--
--
3
ERM001

Medical Symptom

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

Gene & Mutation

#
Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

Title
PMID
Journal
Year
IF
No Data Found!
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