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Standards Ontologies Notations
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MIRAGE
microcephaly

Summary
Synonym
  • Microcephalus
  • microencephaly
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
Displaying all 6 entries
Gene ID Gene Symbol Description Source
19170 Psmb1 proteasome (prosome, macropain) subunit, beta type 1
20624 Eftud2 elongation factor Tu GTP binding domain containing 2
22142 Tuba1a tubulin, alpha 1A
22154 Tubb5 tubulin, beta 5 class I
76574 Mfsd2a MFSD2 lysolipid transporter A, lysophospholipid
234734 Aars1 alanyl-tRNA synthetase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
94198 Psmb1 proteasome 20S subunit beta 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
32547 tay tay bridge
40859 Sas-4 Spindle assembly abnormal 4
Displaying 1 entry
Gene ID Gene Symbol Description Source
492810 mfsd2aa MFSD2 lysolipid transporter A, lysophospholipid a
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
780091 mfsd2a major facilitator superfamily domain containing 2A Xenopus tropicalis (tropical clawed frog)
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: February 17, 2025