|
General Information
|
| Term |
Charcot-Marie-Tooth disease type 2A2A |
ID (Ontology) |
DOID:0110155 (Human Disease) |
| Definition |
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22. |
| Also Known As |
"autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2" ; "Charcot-Marie-Tooth neuronal type 2A2" ; "Charcot-Marie-Tooth neuropathy type 2A2" (for all, see Synonyms field below) |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
| Data Class | Field | Records |
|---|
|
| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 2 | | Human Disease Models (FBhh) | DOID | 1 |
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
| Full annotation statements | Relevant FlyBase reports |
|---|
| Alleles | Genes | Human Disease Models |
|---|
Charcot-Marie-Tooth disease type 2A2A | 2 | 3 | 1 | ameliorates | Charcot-Marie-Tooth disease type 2A2A | 1 | -- | -- | for disease ribbon | Charcot-Marie-Tooth disease type 2A2A | -- | 2 | -- | model of | Charcot-Marie-Tooth disease type 2A2A | 1 | 2 | -- |
|
Relationships