Details of Disease | DrugMAP

General Information of Disease (ID: DISYDDUS)

Disease Name	Joint laxity, short stature, and myopia
Synonyms	JLSM; joint laxity, short stature, and myopia
Disease Hierarchy	DIS6SVEE: Syndromic disease DISCPWH9: Autosomal recessive disease DIS7GG31: Developmental defect during embryogenesis DISYDDUS: Joint laxity, short stature, and myopia
Disease Identifiers	MONDO ID MONDO_0060556 UMLS CUI C4540020 OMIM ID 617662 MedGen ID 1621331 Orphanet ID 527450 SNOMED CT ID 1217372003

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
GZF1	OT2GX84M	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Novel GZF1 pathogenic variants identified in two Chinese patients with Larsen syndrome. Clin Genet. 2021 Feb;99(2):281-285. doi: 10.1111/cge.13856. Epub 2020 Oct 10.