| 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/9537424/, https://pubmed.ncbi.nlm.nih.gov/17825553/ |
| Xrefs |
SNOMEDCT_US_2025_09_01:230562000 |
| SKOS |
exactMatch MESH:C535301 exactMatch MIM:PS605253 exactMatch GARD:0025794 exactMatch UMLS_CUI:C0393818 |
| Subsets |
DO_rare_slim |
| Synonyms |
CHN [EXACT] congenital hypomyelination neuropathy [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some Infantile onset or existence starts during some Neonatal onset or existence starts during some Fetal onset has phenotype some Peripheral hypomyelination has material basis in some autosomal dominant inheritance or has material basis in some autosomal recessive inheritance |