Search Ontology:
Human Disease

holoprosencephaly 9

Term ID
DOID:0110873
Synonyms
  • holoprosencephaly with microphthalmia and first branchial arch anomalies
  • HPE9
  • pituitary anomalies with holoprosencephaly-like features
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
References
Ontology
Human Disease   ( DOID:0110873 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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