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holoprosencephaly 3

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Mondo Description Any holoprosencephaly in which the cause of the disease is a mutation in the SHH 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. The majority of holoprosencephaly type 3 cases are apparently sporadic, although clear examples of autosomal dominant inheritance have been described.
Mondo Term and Equivalent IDs
MONDO:0007733:  holoprosencephaly 3
MESH:C564181: 
UMLS:C1840529: