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.