Details of Disease | DrugMAP

General Information of Disease (ID: DISZI5Z5)

Disease Name	Short stature, microcephaly, and endocrine dysfunction
Synonyms	SSMED; short stature, microcephaly, and endocrine dysfunction
Disease Hierarchy	DISRGY2N: Endocrine disease DISZ93BO: Primordial dwarfism and slender bone disorder DIS6SVEE: Syndromic disease DIS7W23Z: Reproductive system disorder DISZI5Z5: Short stature, microcephaly, and endocrine dysfunction
Disease Identifiers	MONDO ID MONDO_0014686 UMLS CUI C4225288 OMIM ID 616541 MedGen ID 895448

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
XRCC4	OT4SXOIZ	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.