holoprosencephaly

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Echinobase

Summary

Literature (0)

DOID:4621 - holoprosencephaly

Disease Ontology Definition:A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies.

Synonyms: Holoprosencephaly sequence (disorder), Holoprosencephaly sequence

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

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): congenital nervous system abnormality (is_a), syndrome (is_a)