Details of Disease | DrugMAP

General Information of Disease (ID: DISKRQXV)

Disease Name	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Synonyms	spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis; spondyloepimetaphyseal dysplasia, faden-ALKURAYA type; spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and intellectual disability, with or without craniosynostosis; spondyloepimetaphyseal dysplasia, faden-Alkuraya type; SEMDFA
Disease Hierarchy	DIS1JG9A: Spondyloepiphyseal dysplasia DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISKRQXV: Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Disease Identifiers	MONDO ID MONDO_0014748 UMLS CUI C5568882 OMIM ID 616723 MedGen ID 1800305 Orphanet ID 457395 SNOMED CT ID 1187303004

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
RSPRY1	OT9MVWO0	Strong	Autosomal recessive	[1]
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References

1	Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. Am J Hum Genet. 2015 Oct 1;97(4):608-15. doi: 10.1016/j.ajhg.2015.08.007. Epub 2015 Sep 10.