Details of Disease

General Information of Disease (ID: DISXP6H7)

Disease Name Intellectual disability, short stature, facial anomalies, and joint dislocations
Synonyms
intellectual disability, short stature, facial anomalies, and JOINT dislocations; mental retardation, short stature, facial anomalies, and JOINT dislocations; intellectual developmental disorder with short stature, facial anomalies, and speech defects
Disease Hierarchy
DISYKSRF: Genetic disease
DISXP6H7: Intellectual disability, short stature, facial anomalies, and joint dislocations
Disease Identifiers
MONDO ID
MONDO_0011651
MESH ID
C565248
UMLS CUI
C1853507
OMIM ID
606220
MedGen ID
342897

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
FBXL3 OTDQ1QKV Limited Autosomal recessive [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.