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holoprosencephaly 5

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Holoprosencephaly associated with mutations in the ZIC2 gene.
Uniprot Description A structural anomaly of the brain, in which the developing forebrain fails to correctly separate into right and left hemispheres. Holoprosencephaly is genetically heterogeneous and associated with several distinct facies and phenotypic variability.
Mondo Term and Equivalent IDs
MONDO:0012322:  holoprosencephaly 5
MESH:C566464: 
NCIT:C75460: 
UMLS:C1864827: