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Summary Literature (0)
DOID:0110876 - holoprosencephaly 7

Disease Ontology Definition:A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22.

Synonyms: HPE7

Xenbase Genes : ptch1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012562 - holoprosencephaly 7


Other Model Organisms: Alliance, 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)