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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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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:0000786 | Primary amenorrhea |
| HP:0001270 | Motor delay |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001761 | Pes cavus |
| HP:0001251 | Ataxia |
| HP:0002650 | Scoliosis |
| HP:0000639 | Nystagmus |
| HP:0001265 | Hyporeflexia |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0000837 | Increased circulating gonadotropin level |
