Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 (BNAH1)

Alias:
Amastia
Athelia
Amazia
Bnah1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Breasts and/or Nipples, Aplasia or Hypoplasia of, 1, also known as amastia, is related to branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome and isolated congenital breast hypoplasia/aplasia. Affiliated tissues include breast and thyroid, and related phenotypes are choanal atresia and hypoplastic areola

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
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5

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
Year
IF
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