Neuroscience Information Framework (NIF) Standard Ontology

Last uploaded: February 10, 2018

Preferred Name	retinitis pigmentosa 19
Synonyms	RP19
Definitions	A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22.
ID	http://purl.obolibrary.org/obo/DOID_0110354
database_cross_reference	MESH:C566637 ICD10CM:H35.5 OMIM:601718
definition	A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22.
has exact synonym	RP19
has material basis in	http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace	disease_ontology
id	DOID:0110354
label	retinitis pigmentosa 19
notation	DOID:0110354
prefLabel	retinitis pigmentosa 19
subClassOf	http://uri.neuinfo.org/nif/nifstd/birnlex_12820 http://purl.obolibrary.org/obo/DOID_0050737 http://purl.obolibrary.org/obo/DOID_10584

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/DOID_0110354	DOID	SAME_URI
http://purl.obolibrary.org/obo/DOID_0110354	DOID	SAME_URI
http://purl.obolibrary.org/obo/DOID_0110354	HHEAR	SAME_URI
http://purl.obolibrary.org/obo/DOID_0110354	FNS-H	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0011137	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0110354	DOID	LOOM
http://purl.obolibrary.org/obo/MONDO_0011137	EFO	LOOM
http://purl.obolibrary.org/obo/DOID_0110354	DOID	LOOM
http://purl.bioontology.org/ontology/MESH/C566637	MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C566637	RH-MESH	LOOM
http://identifiers.org/omim/601718	REXO	LOOM
http://identifiers.org/omim/601718	GEXO	LOOM
http://identifiers.org/omim/601718	RETO	LOOM
http://purl.obolibrary.org/obo/OMIM_601718	CCO	LOOM
http://purl.bioontology.org/ontology/OMIM/601718	OMIM	LOOM
http://purl.obolibrary.org/obo/MONDO_0011137	DOVES	LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/IRD_1_1_1_16	HAMIDEHSGH	LOOM
http://purl.obolibrary.org/obo/DOID_0110354	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0110354	FNS-H	LOOM