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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:0006528 | Chronic lung disease |
| HP:0006979 | Sleep-wake cycle disturbance |
| HP:0007018 | Attention deficit hyperactivity disorder |
| HP:0007301 | Oromotor apraxia |
| HP:0008947 | Infantile muscular hypotonia |
| HP:0009062 | Infantile axial hypotonia |
| HP:0009914 | Cyclopia |
| HP:0009932 | Single naris |
| HP:0010654 | Aplasia of the falx cerebri |
| HP:0011442 | Abnormal central motor function |
