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holoprosencephaly 9
Summary
- Synonym
-
- HPE9
- holoprosencephaly with microphthalmia and first branchial arch anomalies
- pituitary anomalies with holoprosencephaly-like features
- Definition
- A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14.
- Super Class
- autosomal dominant disease holoprosencephaly
External Links
- Disease Ontology
- DOID:0110873
- Mondo Disease Ontology
- MeSH
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000446 | Narrow nasal bridge |
| HP:0000453 | Choanal atresia |
| HP:0000463 | Anteverted nares |
| HP:0000486 | Strabismus |
| HP:0000612 | Iris coloboma |
| HP:0000821 | Hypothyroidism |
| HP:0001028 | Hemangioma |
| HP:0001360 | Holoprosencephaly |
| HP:0001511 | Intrauterine growth retardation |
| HP:0001622 | Premature birth |
