General Information of Disease (ID: DISK54JI)

Disease Name Intellectual disability, anterior maxillary protrusion, and strabismus
Synonyms mental retardation, anterior maxillary protrusion, and strabismus; MRAMS; intellectual disability, anterior maxillary protrusion, and strabismus
Disease Hierarchy
DISYKSRF: Genetic disease
DISK54JI: Intellectual disability, anterior maxillary protrusion, and strabismus
Disease Identifiers
MONDO ID
MONDO_0013353
UMLS CUI
C3150924
OMIM ID
613671
MedGen ID
462274
Orphanet ID
562559
SNOMED CT ID
1222706005

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
SOBP OTI8OO0M Supportive Autosomal recessive [1]
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References

1 Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome. Am J Med Genet A. 2007 Aug 1;143A(15):1687-91. doi: 10.1002/ajmg.a.31810.