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Metadata
ID DOID:0110873
Name holoprosencephaly 9
Definition A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14.
https://www.ncbi.nlm.nih.gov/pubmed/14581620
Xrefs

OMIM:610829

Synonyms

holoprosencephaly with microphthalmia and first branchial arch anomalies [EXACT]

HPE9 [EXACT]

pituitary anomalies with holoprosencephaly-like features [EXACT]

Parent Relationships

is_a holoprosencephaly

is_a autosomal dominant disease

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