Details of Disease

General Information of Disease (ID: DIS8AUSD)

Disease Name Short stature with microcephaly and distinctive facies
Synonyms short stature with microcephaly and distinctive facies
Disease Hierarchy
DISZ93BO: Primordial dwarfism and slender bone disorder
DIS8AUSD: Short stature with microcephaly and distinctive facies
Disease Identifiers
MONDO ID
MONDO_0014347
UMLS CUI
C4014339
OMIM ID
615789
MedGen ID
862776

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
CRIPT OTA6M8M4 Strong Autosomal recessive [1]
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References

1 Genomic analysis of primordial dwarfism reveals novel disease genes. Genome Res. 2014 Feb;24(2):291-9. doi: 10.1101/gr.160572.113. Epub 2014 Jan 3.