PEHO syndrome
Information
- Disease name
- PEHO syndrome
- Disease ID
- DOID:0080539
- Description
- "A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss." [url:https\://en.wikipedia.org/wiki/PEHO_syndrome, url:https\://www.ncbi.nlm.nih.gov/pubmed/28335020, url:https\://www.ncbi.nlm.nih.gov/pubmed/30385166, url:https\://www.ncbi.nlm.nih.gov/pubmed/31048081]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:936
- Cross Reference ID (Disease Ontology)
- GARD:4264
- Cross Reference ID (Disease Ontology)
- MESH:C536317
- Cross Reference ID (Disease Ontology)
- MIM:260565
- Cross Reference ID (Disease Ontology)
- ORDO:2836
- OrphaNumber from OrphaNet (Orphanet)
- 2836
- MedGen concept unique identifier (MedGen Concept name)
- C1850055
- MedGen unique identifier (MedGen Concept name)
- 342404