Details of Disease

General Information of Disease (ID: DISD1P75)

Disease Name X-linked osteoporosis with fractures
Disease Hierarchy
DISF2JE0: Osteoporosis
DISD1P75: X-linked osteoporosis with fractures
Disease Identifiers
MONDO ID
MONDO_0018315
UMLS CUI
C5190610
MedGen ID
1674557
Orphanet ID
391330
SNOMED CT ID
782785002

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
PLS3 OTYBM4PK Definitive X-linked [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.