Details of Disease | DrugMAP

General Information of Disease (ID: DIS7HTFU)

Disease Name	Arhinia, choanal atresia, and microphthalmia
Synonyms	BOSMA arhinia microphthalmia syndrome; arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism; Bosma arhinia microphthalmia syndrome; BAMS; arhinia, choanal atresia, and microphthalmia
Disease Hierarchy	DISYKSRF: Genetic disease DIS7HTFU: Arhinia, choanal atresia, and microphthalmia
Disease Identifiers	MONDO ID MONDO_0011323 MESH ID C537429 UMLS CUI C1863878 OMIM ID 603457 MedGen ID 355084 SNOMED CT ID 720511000

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
SMCHD1	OTBV52DR	Definitive	Autosomal dominant	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.