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loading...| Preferred Name |
retinitis pigmentosa 84 |
| Synonyms |
RP84 |
| Definitions |
A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2. |
| ID |
http://purl.obolibrary.org/obo/DOID_0112141 |
| database_cross_reference |
OMIM:618220 |
| definition |
A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2. |
| has exact synonym |
RP84 |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0112141 |
| label |
retinitis pigmentosa 84 |
| notation |
DOID:0112141 |
| prefLabel |
retinitis pigmentosa 84 |
| subClassOf |