holoprosencephaly 7

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Echinobase

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: ptch1

MIM:

MIM:610828 - holoprosencephaly 7; hpe7

MIM:610828 - holoprosencephaly 7; hpe7

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)