Term Name: | retinitis pigmentosa 98 |
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Synonyms: | RP98 |
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. |
Ontology: | Human Disease [DOID:0061109] ( DOID:0061109 ) |