Details of Disease | DrugMAP

General Information of Disease (ID: DISQ8UVL)

Disease Name	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Synonyms	X-linked facial dysmorphism-short stature-choanal atrsia-intellectual disability syndrome limited to females; X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females
Disease Hierarchy	DIS6SVEE: Syndromic disease DISQ8UVL: X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Disease Identifiers	MONDO ID MONDO_0018821 UMLS CUI C5567523 MedGen ID 1798946 Orphanet ID 480880 SNOMED CT ID 1172697000

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
USP9X	OT9ASQSE	Supportive	X-linked	[1]
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References

1	De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations. Am J Hum Genet. 2016 Feb 4;98(2):373-81. doi: 10.1016/j.ajhg.2015.12.015. Epub 2016 Jan 28.