Details of Disease | DrugMAP

General Information of Disease (ID: DISEF3CZ)

Disease Name	AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Synonyms	mental retardation, autosomal dominant 25; intellectual disability, autosomal dominant 25; Xia-Gibbs syndrome; MRD25; AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome; autosomal dominant intellectual disability 25; autosomal dominant mental retardation 25
Disease Hierarchy	DISH7SDF: Syndromic intellectual disability DIS1I87P: Intellectual disability, autosomal dominant DISEF3CZ: AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
Disease Identifiers	MONDO ID MONDO_0014358 UMLS CUI C4014419 OMIM ID 615829 MedGen ID 862856 Orphanet ID 412069 SNOMED CT ID 774068004

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
AHDC1	OTQ1VL2W	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.