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 / Organisms
Boucher-Neuhauser syndrome
Summary
- Synonym
-
- ataxia-hypogonadism-choroidal dystrophy syndrome
- Definition
- A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0111265
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001272 | Cerebellar atrophy |
| HP:0000529 | Progressive visual loss |
| HP:0002168 | Scanning speech |
| HP:0007263 | Spinocerebellar atrophy |
| HP:0002080 | Intention tremor |
| HP:0003676 | Progressive |
| HP:0002066 | Gait ataxia |
| HP:0003621 | Juvenile onset |
| HP:0003693 | Distal amyotrophy |
| HP:0002127 | Abnormal upper motor neuron morphology |
