Details of Disease

General Information of Disease (ID: DISNIL7Q)

Disease Name Brachydactyly type A1D
Synonyms brachydactyly, type A1, D; brachydactyly type A1 caused by mutation in BMPR1B; BDA1D; BMPR1B brachydactyly type A1
Definition Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene.
Disease Hierarchy
DIS2533F: Brachydactyly
DISNIL7Q: Brachydactyly type A1D
Disease Identifiers
MONDO ID
MONDO_0014798
UMLS CUI
C4225183
OMIM ID
616849
MedGen ID
903193

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
BMPR1B OTGFN0OD Moderate Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.