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
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:0001761 | Pes cavus |
| HP:0000762 | Decreased nerve conduction velocity |
| HP:0007108 | Demyelinating peripheral neuropathy |
| HP:0000518 | Cataract |
| HP:0003487 | Babinski sign |
| HP:0001265 | Hyporeflexia |
| HP:0000407 | Sensorineural hearing impairment |
| HP:0001310 | Dysmetria |
| HP:0003677 | Slowly progressive |
| HP:0000639 | Nystagmus |
