Details of Disease | DrugMAP

General Information of Disease (ID: DISYVCNF)

Disease Name	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
Synonyms	short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies; SSFSC
Disease Hierarchy	DIS9HSAC: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies DISYVCNF: Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1
Disease Identifiers	MONDO ID MONDO_0100297 UMLS CUI C5542952 OMIM ID 617877 MedGen ID 1778119

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
BMP2	TTP3IGX	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BMP2	OT23T37S	Strong	Autosomal dominant	[1]
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References

1	Genomic diagnostics within a medically underserved population: efficacy and implications. Genet Med. 2018 Jan;20(1):31-41. doi: 10.1038/gim.2017.76. Epub 2017 Jul 20.