Details of Disease

General Information of Disease (ID: DISOP6NJ)

Disease Name X-linked intellectual disability, Porteous type
Disease Hierarchy
DISYK1IP: Renpenning syndrome
DISOP6NJ: X-linked intellectual disability, Porteous type
Disease Identifiers
MONDO ID
MONDO_0019766
UMLS CUI
C5681616
MedGen ID
1842708
Orphanet ID
93945

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
PQBP1 OTXCBEAH Supportive X-linked [1]
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References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.