Human Disease Ontology 123

Last uploaded: September 28, 2023

Preferred Name	retinitis pigmentosa 33
Synonyms	RP33
Definitions	A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11.
ID	http://purl.obolibrary.org/obo/DOID_0110366
database_cross_reference	OMIM:610359 ICD10CM:H35.5 MESH:C563676
definition	A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11.
has exact synonym	RP33
has material basis in	http://purl.obolibrary.org/obo/GENO_0000147
has_obo_namespace	disease_ontology
id	DOID:0110366
label	retinitis pigmentosa 33
notation	DOID:0110366
prefLabel	retinitis pigmentosa 33
subClassOf	http://purl.obolibrary.org/obo/DOID_0050736 http://purl.obolibrary.org/obo/DOID_10584

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/610359	Online Mendelian Inheritance in Man	LOOM
	http://purl.bioontology.org/ontology/MESH/C563676	Medical Subject Headings	LOOM