Details of Disease

General Information of Disease (ID: DIS2GGUF)

Disease Name Microcephaly, short stature, and impaired glucose metabolism 1
Synonyms microcephaly, short stature, and impaired glucose metabolism; MSSGM; microcephaly, short stature, and impaired glucose metabolism 1; MSSGM1
Disease Hierarchy
DISGZKJX: Microcephaly, short stature, and impaired glucose metabolism
DIS2GGUF: Microcephaly, short stature, and impaired glucose metabolism 1
Disease Identifiers
MONDO ID
MONDO_0000208
UMLS CUI
C4014997
OMIM ID
616033
MedGen ID
863434

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
TRMT10A OTQ5AKN4 Strong Autosomal recessive [1]
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References

1 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.