Details of Disease | DrugMAP

General Information of Disease (ID: DIS752NN)

Disease Name	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
Synonyms	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies; SSFSC2; short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
Disease Hierarchy	DIS9HSAC: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies DIS752NN: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2
Disease Identifiers	MONDO ID MONDO_0030953 UMLS CUI C5543057 OMIM ID 619184 MedGen ID 1782253

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
SCUBE3	OT2EADLC	Strong	Autosomal recessive	[1]
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References

1	The First Scube3 Mutant Mouse Line with Pleiotropic Phenotypic Alterations. G3 (Bethesda). 2016 Dec 7;6(12):4035-4046. doi: 10.1534/g3.116.033670.