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holoprosencephaly 11

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any holoprosencephaly in which the cause of the disease is a mutation in the CDON 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.
Disease Ontology Description A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24.
Mondo Term and Equivalent IDs
MONDO:0013642:  holoprosencephaly 11
UMLS:C3280215: