| Metadata | |
|---|---|
| ID | DOID:0070835 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070835 Copy |
| Name | Charcot-Marie-tooth disease type 1J |
| Definition | A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy, as well as distal sensory impairment, predominantly affecting the lower limbs and resulting in gait abnormalities that has_material_basis_in heterozygous mutation in the ITPR3 gene on chromosome 6p21. This disease is progressive but highly variable in both age of onset, ranging from early childhood to mid-adulthood, and severity. https://pubmed.ncbi.nlm.nih.gov/32949214/ |
| Xrefs | |
| SKOS |
exactMatch ORDO:730332 exactMatch MIM:620111 exactMatch UMLS_CUI:C5774249 |
| Subsets |
DO_rare_slim |
| Synonyms |
CMT1J [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |