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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
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MIRAGE
Perrault syndrome
Summary
- Definition
- A syndrome that is characterized by sensorineural hearing loss and ovarian failure.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0050857
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P51659 | Peroxisomal multifunctional enzyme type 2 | |
| Q15031 | Leucine--tRNA ligase, mitochondrial |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001284 | Areflexia |
| HP:0000939 | Osteoporosis |
| HP:0007941 | Limited extraocular movements |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0002080 | Intention tremor |
| HP:0001264 | Spastic diplegia |
| HP:0000133 | Gonadal dysgenesis |
| HP:0001762 | Talipes equinovarus |
| HP:0001256 | Intellectual disability, mild |
| HP:0004322 | Short stature |
