| Metadata | |
|---|---|
| ID | DOID:0070806 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070806 Copy |
| Name | early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy |
| Definition | A neurodegenerative disease characterized by onset in early childhood of progressive walking difficulties, progressive visual impairment and blindness due to retinitis pigmentosa, sensorineural hearing loss, demyelinating peripheral neuropathy, and severely impaired intellectual development with poor or absent speech that has_material_basis_in homozygous mutation in the KLC4 gene on chromosome 6p21. https://pubmed.ncbi.nlm.nih.gov/26423925/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6012705 exactMatch MIM:621129 |
| Subsets |
DO_rare_slim |
| Synonyms |
CONDRHN [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |