Details of Disease | DrugMAP

General Information of Disease (ID: DISFMT9Y)

Disease Name	Regressive spondylometaphyseal dysplasia
Synonyms	regressive spondylometaphyseal dysplasia; Pelger-Huet anomaly with mild skeletal anomalies
Disease Hierarchy	DISDTAJK: Spondylometaphyseal dysplasia DISFMT9Y: Regressive spondylometaphyseal dysplasia
Disease Identifiers	MONDO ID MONDO_0018663 UMLS CUI C4747922 OMIM ID 618019 MedGen ID 1648288 Orphanet ID 448267 SNOMED CT ID 1237412001

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
LBR	OT1HG3HG	Strong	Autosomal recessive	[1]
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References

1	Pelger-huet anomaly and a mild skeletal phenotype secondary to mutations in LBR. Am J Med Genet A. 2013 Aug;161A(8):2066-73. doi: 10.1002/ajmg.a.36019. Epub 2013 Jul 3.