Details of Disease | DrugMAP

General Information of Disease (ID: DIS34K5T)

Disease Name	Developmental delay with short stature, dysmorphic facial features, and sparse hair
Disease Hierarchy	DISYKSRF: Genetic disease DIS34K5T: Developmental delay with short stature, dysmorphic facial features, and sparse hair
Disease Identifiers	MONDO ID MONDO_0031632 UMLS CUI C4310801 OMIM ID 616901 MedGen ID 934768 Orphanet ID 459061 SNOMED CT ID 1217229007

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
DPH1	OT0QU3JY	Strong	Biomarker	[1]
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References

1	Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.