Details of Disease | DrugMAP

General Information of Disease (ID: DISII7K7)

Disease Name	Intellectual developmental disorder with poor growth and with or without seizures or ataxia
Synonyms	INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA; IDPOGSA
Disease Hierarchy	DISYKSRF: Genetic disease DISII7K7: Intellectual developmental disorder with poor growth and with or without seizures or ataxia
Disease Identifiers	MONDO ID MONDO_0032930 UMLS CUI C5394135 OMIM ID 618808 MedGen ID 1711370

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCA2	DTJ4NEG	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ABCA2	OTVSYK0X	Strong	Autosomal recessive	[1]
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References

1	"Skittish" Abca2 knockout mice display tremor, hyperactivity, and abnormal myelin ultrastructure in the central nervous system. Mol Cell Biol. 2007 Jan;27(1):44-53. doi: 10.1128/MCB.01824-06. Epub 2006 Oct 23.