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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
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Repository for lectin-assisted multimodality data
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MIRAGE
PHARC syndrome
Summary
- Synonym
-
- polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
- Definition
- A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0080181
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8N2K0 | Lysophosphatidylserine lipase ABHD12 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q99LR1 | Lysophosphatidylserine lipase ABHD12 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q08C93 | Lysophosphatidylserine lipase ABHD12 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0011462 | Young adult onset |
| HP:0001257 | Spasticity |
| HP:0002080 | Intention tremor |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001272 | Cerebellar atrophy |
| HP:0003621 | Juvenile onset |
| HP:0000523 | Subcapsular cataract |
| HP:0007141 | Sensorimotor neuropathy |
| HP:0001251 | Ataxia |
| HP:0001771 | Achilles tendon contracture |
