| Metadata | |
|---|---|
| ID | DOID:0110166 |
| Name | Charcot-Marie-Tooth disease axonal type 2H |
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23. https://www.ncbi.nlm.nih.gov/pubmed/11166163 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
AR-CMT2C [EXACT] autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features [EXACT] autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features [EXACT] Autosomal recessive axonal CMT4C2 [EXACT] Axonal Charcot-Marie-Tooth disease with pyramidal involvement [EXACT] Charcot-Marie-Tooth disease type 2H [EXACT] CMT2H [EXACT] |
| Parent Relationships |