Details of Disease

General Information of Disease (ID: DIS9ODKJ)

Disease Name Isolated congenital breast hypoplasia/aplasia
Synonyms breasts and/or nipples, aplasia or hypoplasia of; isolated congenital amastia
Disease Hierarchy
DISYKSRF: Genetic disease
DISJTGMA: Breast disorder
DIS9ODKJ: Isolated congenital breast hypoplasia/aplasia
Disease Identifiers
MONDO ID
MONDO_0015855
MESH ID
C562989
UMLS CUI
C0432357
OMIM ID
113700
MedGen ID
98489
Orphanet ID
180188
SNOMED CT ID
271020004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PTPRF OTH5KF2D Strong GermlineCausalMutation [1]
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References

1 Homozygous truncating PTPRF mutation causes athelia.Hum Genet. 2014 Aug;133(8):1041-7. doi: 10.1007/s00439-014-1445-1. Epub 2014 Apr 30.