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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:0011471 | Gastrostomy tube feeding in infancy |
| HP:0011787 | Central hypothyroidism |
| HP:0011951 | Aspiration pneumonia |
| HP:0011968 | Feeding difficulties |
| HP:0012285 | Abnormal hypothalamus physiology |
| HP:0012718 | Abnormal gastrointestinal tract morphology |
| HP:0012806 | Proboscis |
| HP:0100704 | Cerebral visual impairment |
| HP:0000104 | Renal agenesis |
| HP:0000202 | Orofacial cleft |
