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loading...| Preferred Name |
RETINITIS PIGMENTOSA 84 |
| Synonyms |
RP84 |
| ID |
http://purl.bioontology.org/ontology/OMIM/618220 |
| altLabel |
RP84 |
| cui |
C4748725 |
| Gene Locus |
16q21-q22 |
| Gene Symbol |
RP84 DHX38 PRP16 DDX38 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU062928 http://purl.bioontology.org/ontology/OMIM/MTHU012837 http://purl.bioontology.org/ontology/OMIM/MTHU000155 http://purl.bioontology.org/ontology/OMIM/MTHU030431 http://purl.bioontology.org/ontology/OMIM/MTHU000322 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
618220 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
RETINITIS PIGMENTOSA 84 |
| Scope Statement |
Caused by mutation in the DEAH-box helicase gene 38 (DHX38, 605584.0001) [MOLECULAR BASIS] Age of onset between 3-4 years [MISCELLANEOUS] Onset of blindness between 7-8 years [MISCELLANEOUS] |
| tui |
T047 |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0112141 | Human Disease Ontology / 人类疾病本体 | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0032604 | Mondo Disease Ontology / Mondo疾病本体 | LOOM |