Details of Disease | DrugMAP

General Information of Disease (ID: DISKY9OW)

Disease Name	Antecubital pterygium syndrome
Synonyms	antecubital pterygium; pterygium, antecubital; pterygium antecubital; antecubital pterygium syndrome
Disease Hierarchy	DIS4SKIE: Dermis disorder DISKY9OW: Antecubital pterygium syndrome
Disease Identifiers	MONDO ID MONDO_0008339 MESH ID C566738 UMLS CUI C1867439 OMIM ID 178200 MedGen ID 401231 HPO ID HP:0009760 Orphanet ID 2987 SNOMED CT ID 784351000

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
PSD3	OTTN9B9O	Limited	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.