Regulation of Gene Expression Ontolology

Last uploaded: December 16, 2015
Preferred Name

Holoprosencephaly 3

Synonyms

HPE3

Definitions

(HPE3) - 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.

ID

http://identifiers.org/omim/142945

altLabel

HPE3

definition

(HPE3) - 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.

id

OMIM:142945

notation

OMIM:142945

prefLabel

Holoprosencephaly 3

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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