Terminology Service for NFDI4Health
holoprosencephaly 9
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http://purl.obolibrary.org/obo/DOID_0110873
A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. [ http://purl.obolibrary.org/obo/ECO_0007645 ]
Term info
Label
holoprosencephaly 9
Synonyms
- HPE9
- holoprosencephaly with microphthalmia and first branchial arch anomalies
- pituitary anomalies with holoprosencephaly-like features
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disease_ontology
id
DOID:0110873