| Metadata | |
|---|---|
| ID | DOID:0070678 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070678 Copy |
| Name | congenital hypomyelinating neuropathy |
| Definition | A neuromuscular disease characterized by fetal to infantile onset of hypotonia, areflexia, distal muscle weakness, very slow nerve conduction velocities, and delayed motor development resulting from impaired myelin formation with minimal or no evidence of demyelination. https://pubmed.ncbi.nlm.nih.gov/17825553/, https://pubmed.ncbi.nlm.nih.gov/9537424/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:230562000 |
| SKOS |
exactMatch GARD:0025794 exactMatch MESH:C535301 exactMatch MIM:PS605253 exactMatch UMLS_CUI:C0393818 |
| Subsets |
DO_rare_slim |
| Synonyms |
CHN [EXACT] congenital hypomyelination neuropathy [EXACT] |
| Parent Relationships |