| Metadata | |
|---|---|
| ID | DOID:0070837 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070837 Copy |
| Name | Charcot-Marie-tooth disease axonal type 2HH |
| Definition | A Charcot-Marie-Tooth disease type 2 characterized by onset of vocal cord weakness resulting in stridor in infancy or early childhood that has_material_basis_in heterozygous mutation in the JAG1 gene on chromosome 20p12. https://pubmed.ncbi.nlm.nih.gov/32065591/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C5562003 exactMatch MIM:619574 |
| Subsets |
DO_rare_slim |
| Synonyms |
CMT2HH [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |