Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
- MeSH
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P10070 | Zinc finger protein GLI2 |
- 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:0000736 | Short attention span |
| HP:0000772 | Abnormal rib morphology |
