Terminology Service for NFDI4Health
holoprosencephaly 7
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http://purl.obolibrary.org/obo/DOID_0110876
A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. [ http://purl.obolibrary.org/obo/ECO_0007645 ]