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Metadata
ID DOID:0110876
Name holoprosencephaly 7
Definition A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22.
https://www.ncbi.nlm.nih.gov/pubmed/11941477
Xrefs

MESH:C563660

OMIM:610828

Synonyms

HPE7 [EXACT]

Parent Relationships

is_a holoprosencephaly

is_a autosomal dominant disease

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