Details of Disease | DrugMAP

General Information of Disease (ID: DIS2XEJE)

Disease Name	Inborn disorder of lysine and hydroxylysine metabolism
Synonyms	disorder of lysine and hydroxylysine metabolism
Disease Hierarchy	DIS0WTSJ: Inborn disorder of aspartate family metabolism DIS2XEJE: Inborn disorder of lysine and hydroxylysine metabolism
Disease Identifiers	MONDO ID MONDO_0017351 UMLS CUI C0268552 MedGen ID 541359 Orphanet ID 289832 SNOMED CT ID 237929000

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
HYKK	OTBK1QPN	No Known	Unknown	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.