GlyCosmos Portal

microcephaly

Synonym

Definition

A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants.

Super Class

congenital nervous system abnormality

Disease Ontology

DOID:10907

Mondo Disease Ontology

MeSH

UMLS

NCI Thesaurus

GARD

MGI genotype (from TogoID)

WikiPathways (from TogoID)

Related Genes

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Gene ID	Gene Symbol	Description	Source
36	ACADSB	acyl-CoA dehydrogenase short/branched chain	DisGeNET
175	AGA	aspartylglucosaminidase	DisGeNET
224	ALDH3A2	aldehyde dehydrogenase 3 family member A2	DisGeNET
523	ATP6V1A	ATPase H+ transporting V1 subunit A	DisGeNET
847	CAT	catalase	DisGeNET
1119	CHKA	choline kinase alpha	Alliance of Genome Resources
1120	CHKB	choline kinase beta	DisGeNET Alliance of Genome Resources
1312	COMT	catechol-O-methyltransferase	DisGeNET
1376	CPT2	carnitine palmitoyltransferase 2	DisGeNET
1605	DAG1	dystroglycan 1	DisGeNET

Related Glycoprotein

Displaying entries **21 - 30** of **100** in total

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UniProt ID	Protein Name	Source
P10515	Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial	DisGeNET
P12821	Angiotensin-converting enzyme	DisGeNET
P20933	N(4)-(beta-N-acetylglucosaminyl)-L-asparaginase	DisGeNET
P21912	Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial	DisGeNET
P21964	Catechol O-methyltransferase	DisGeNET
P23786	Carnitine O-palmitoyltransferase 2, mitochondrial	DisGeNET
P32004	Neural cell adhesion molecule L1	DisGeNET
P35914	Hydroxymethylglutaryl-CoA lyase, mitochondrial	DisGeNET
P38606	V-type proton ATPase catalytic subunit A	DisGeNET
P42338	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	DisGeNET