Details of Disease | DrugMAP

General Information of Disease (ID: DISZOS19)

Disease Name	Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Synonyms	KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISZOS19: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Disease Identifiers	MONDO ID MONDO_0035651 UMLS CUI C5680310 MedGen ID 1830104 Orphanet ID 589856 SNOMED CT ID 1281843005

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
KMT2D	OTTVHCLY	Moderate	Autosomal dominant	[1]
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References

1	A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. Genet Med. 2020 May;22(5):867-877. doi: 10.1038/s41436-019-0743-3. Epub 2020 Jan 17.