Details of Disease

Disease Name

Congenital laryngomalacia

laryngomalacia; congenital laryngeal stridor; laryngomalacia congenital

Definition

Increased collapsibility of the larynx.

Disease Hierarchy

DISDKUQO: Laryngeal disorder

DISWQG9L: Congenital laryngomalacia

Disease Identifiers

MONDO ID

MONDO_0007878

MESH ID

D055092

UMLS CUI

C0264303

OMIM ID

150280

MedGen ID

120500

HPO ID

HP:0001601

Orphanet ID

2373

SNOMED CT ID

38086007

General Information of Disease (ID: DISWQG9L)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Omeprazole	DM471KJ	Approved	Small molecular drug	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ASXL3	OTNDJWEZ	moderate	CausalMutation	[2]
ARID1B	OTILK3Q7	Strong	CausalMutation	[3]
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References

1	Omeprazole FDA Label
2	Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.Am J Med Genet A. 2016 Jul;170(7):1863-7. doi: 10.1002/ajmg.a.37653. Epub 2016 Apr 13.
3	Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.Hum Mutat. 2015 Dec;36(12):1197-204. doi: 10.1002/humu.22901. Epub 2015 Sep 30.