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Metadata
ID DOID:0110872
Name holoprosencephaly 2
Definition A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21.
https://www.ncbi.nlm.nih.gov/pubmed/10369266
Xrefs

MESH:C563579

MIM:157170

Synonyms

HPE2 [EXACT]

Parent Relationships

is_a autosomal dominant disease

is_a holoprosencephaly

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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