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Summary Literature (1)
DOID:0110873 - holoprosencephaly 9

Disease Ontology Definition:A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14.

Synonyms: HPE9, holoprosencephaly with microphthalmia and first branchial arch anomalies, pituitary anomalies with holoprosencephaly-like features,

Xenbase Genes : gli2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012563 - holoprosencephaly 9

OMIM:
OMIM:610829 - HOLOPROSENCEPHALY 9; HPE9

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), holoprosencephaly (is_a)