Details of Disease | DrugMAP

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.