Details of Disease | DrugMAP

General Information of Disease (ID: DIS87ROD)

Disease Name	Intellectual disability, X-linked 103
Synonyms	intellectual disability, X-linked 103; KLHL15 non-syndromic X-linked intellectual disability; mental retardation, X-linked 103; intellectual disability, X-linked type 103; intellectual developmental disorder, X-linked 103, X-linked recessive; non-syndromic X-linked intellectual disability caused by mutation in KLHL15; MRX103; mental retardation, X-linked type 103
Definition	Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene.
Disease Hierarchy	DIS71AI3: Non-syndromic X-linked intellectual disability DIS87ROD: Intellectual disability, X-linked 103
Disease Identifiers	MONDO ID MONDO_0010508 UMLS CUI C4310818 OMIM ID 300982 MedGen ID 934785

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
KLHL15	OTQ8T3LB	Strong	X-linked	[1]
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References

1	Histological alterations on the structure of the excretory renal system in tench (Tinca tinca) after exposure to 17-alpha-ethynylestradiol. Bull Environ Contam Toxicol. 2013 Dec;91(6):623-9. doi: 10.1007/s00128-013-1088-2. Epub 2013 Sep 17.