| Metadata | |
|---|---|
| ID | DOID:0061109 |
| Name | retinitis pigmentosa 98 |
| Definition | A retinitis pigmentosa characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11q12. https://pubmed.ncbi.nlm.nih.gov/39191256/ |
| Xrefs | |
| SKOS |
exactMatch MIM:620996 |
| Synonyms |
RP98 [EXACT] |
| Parent Relationships |
is_a retinitis pigmentosa |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance has material basis in some Childhood onset |