| Metadata | |
|---|---|
| ID | DOID:0110201 |
| Name | Charcot-Marie-Tooth disease recessive intermediate A |
| Definition | A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. https://www.ncbi.nlm.nih.gov/pubmed/12499475 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive intermediate Charcot-Marie-Tooth disease type A [EXACT] Charcot-Marie-Tooth neuropathy recessive intermediate A [EXACT] CMTRIA [EXACT] RI-CMTA [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |