retinitis pigmentosa 48

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Summary

Literature (0)

DOID:0110382 - retinitis pigmentosa 48

Disease Ontology Definition:A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1.

Synonyms: RP48

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: guca1b

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0013447 - retinitis pigmentosa 48

MONDO:0013447 - retinitis pigmentosa 48

MIM:

MIM:613827 - RETINITIS PIGMENTOSA 48; RP48

MIM:613827 - RETINITIS PIGMENTOSA 48; RP48

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): retinitis pigmentosa (is_a)