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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:0001636 | Tetralogy of Fallot |
| HP:0002099 | Asthma |
| HP:0002247 | Duodenal atresia |
| HP:0003196 | Short nose |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0008736 | Hypoplasia of penis |
| HP:0009800 | Maternal diabetes |
| HP:0010644 | Midnasal stenosis |
| HP:0010804 | Tented upper lip vermilion |
| HP:0030680 | Abnormal cardiovascular system morphology |
