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Neuroscience Information Framework (NIF) Standard Ontology
Last uploaded:
February 10, 2018
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| Preferred Name | retinitis pigmentosa 30 | |
| Synonyms |
RP30 |
|
| Definitions |
A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0110406 |
|
| alternative label |
RP30
|
|
| database_cross_reference |
ICD10CM:H35.5 OMIM:607921 MESH:C564310
|
|
| definition |
A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25.
|
|
| has exact synonym |
RP30
|
|
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:0110406
|
|
| label |
retinitis pigmentosa 30
|
|
| notation |
DOID:0110406
|
|
| note |
A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25.
|
|
| preferred label |
retinitis pigmentosa 30
|
|
| prefLabel |
retinitis pigmentosa 30
|
|
| subClassOf |
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