Details of Disease | DrugMAP

General Information of Disease (ID: DISN208Z)

Disease Name	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
Synonyms	short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay; SRMMD; short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay; SRMMD
Disease Hierarchy	DISYKSRF: Genetic disease DISN208Z: Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay
Disease Identifiers	MONDO ID MONDO_0014948 UMLS CUI C4310686 OMIM ID 617164 MedGen ID 934653

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
ARCN1	OTJ96STE	Strong	Autosomal dominant	[1]
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References

1	ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects. Am J Hum Genet. 2016 Aug 4;99(2):451-9. doi: 10.1016/j.ajhg.2016.06.011. Epub 2016 Jul 28.