Details of Disease | DrugMAP

General Information of Disease (ID: DISS72AI)

Disease Name	Congenital heart defects and skeletal malformations syndrome
Synonyms	CHDSKM; marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome; congenital heart defects and skeletal malformations syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISS72AI: Congenital heart defects and skeletal malformations syndrome
Disease Identifiers	MONDO ID MONDO_0060532 UMLS CUI C4539857 OMIM ID 617602 MedGen ID 1618340

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ABL1	TTZJTWA	Strong	Autosomal dominant	[1]
ABL1	TT6B75U	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABL1	OT09YVXH	Strong	Autosomal dominant	[1]
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References

1	Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 Apr;49(4):613-617. doi: 10.1038/ng.3815. Epub 2017 Mar 13.