Details of Disease | DrugMAP

General Information of Disease (ID: DISSD5BQ)

Disease Name	Dysostosis multiplex, Ain-Naz type
Disease Hierarchy	DISHPNVX: Dysplasia DISSD5BQ: Dysostosis multiplex, Ain-Naz type
Disease Identifiers	MONDO ID MONDO_0859156 UMLS CUI C5444223 OMIM ID 619345 MedGen ID 1780944

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
LYSET	OT8XE247	Limited	Autosomal recessive	[1]
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References

1	Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature. Hum Mutat. 2021 Jan;42(1):89-101. doi: 10.1002/humu.24139. Epub 2020 Nov 30.