Details of Disease | DrugMAP

General Information of Disease (ID: DISPS9HT)

Disease Name	Spondyloepimetaphyseal dysplasia, aggrecan type
Synonyms	SEMDAG; SEMD, aggrecan type; spondyloepimetaphyseal dysplasia, aggrecan type
Definition	A spondyloepimetaphyseal dysplasia characterized by severe short stature, facial dysmorphism and characteristic radiographic findings.
Disease Hierarchy	DISO4L5A: Spondyloepimetaphyseal dysplasia DISPS9HT: Spondyloepimetaphyseal dysplasia, aggrecan type
Disease Identifiers	MONDO ID MONDO_0013014 MESH ID C567558 UMLS CUI C2748544 OMIM ID 612813 MedGen ID 411237 Orphanet ID 171866 SNOMED CT ID 719165004

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
ACAN	OTUOCW8K	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.