Details of Disease

General Information of Disease (ID: DISE7NIL)

Disease Name Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
Synonyms cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia; CHOPS; CHOPS syndrome
Disease Hierarchy
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
DIS5Z8U6: Skeletal dysplasia
DISE7NIL: Cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
Disease Identifiers
MONDO ID
MONDO_0014609
UMLS CUI
C4085597
OMIM ID
616368
MedGen ID
894554
Orphanet ID
444077
SNOMED CT ID
764455002

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
AFF4 OTTL5Y8R Strong Autosomal dominant [1]
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References

1 Clinical and molecular spectrum of CHOPS syndrome. Am J Med Genet A. 2019 Jul;179(7):1126-1138. doi: 10.1002/ajmg.a.61174. Epub 2019 May 6.