| Metadata | |
|---|---|
| ID | DOID:0110152 |
| Name | Charcot-Marie-Tooth disease type 1B |
| Definition | A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). https://www.ncbi.nlm.nih.gov/pubmed/7693129 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B [EXACT] Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy [EXACT] Charcot-Marie-Tooth neuropathy type 1B [EXACT] CMT1B [EXACT] hereditary motor and sensory neuropathy IB [EXACT] HMSN IB [EXACT] HMSN1B [EXACT] peroneal muscular atrophy [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |