Details of Disease | DrugMAP

General Information of Disease (ID: DISKGY38)

Disease Name	Spondyloepiphyseal dysplasia tarda
Definition	Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.
Disease Hierarchy	DIS1JG9A: Spondyloepiphyseal dysplasia DISKGY38: Spondyloepiphyseal dysplasia tarda

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
TRAPPC2	OTWL5H45	Supportive	Autosomal dominant	[1]
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References

1	X-Linked Spondyloepiphyseal Dysplasia Tarda. 2001 Nov 1 [updated 2023 Apr 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.