Gene Expression Ontology

Last uploaded: December 16, 2015

Preferred Name	Neuropathy, ataxia, and retinitis pigmentosa
Synonyms	NARP
Definitions	(NARP) - A syndrome characterized by variable combination of developmental delay, psychomotor retardation, hearing loss, optic atrophy and retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy.
ID	http://identifiers.org/omim/551500
altLabel	NARP
definition	(NARP) - A syndrome characterized by variable combination of developmental delay, psychomotor retardation, hearing loss, optic atrophy and retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy.
id	OMIM:551500
notation	OMIM:551500
prefLabel	Neuropathy, ataxia, and retinitis pigmentosa
subClassOf	http://purl.obolibrary.org/obo/OGMS_0000031

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://identifiers.org/omim/551500	REXO	SAME_URI
http://identifiers.org/omim/551500	RETO	SAME_URI
http://purl.obolibrary.org/obo/OMIM_551500	CCO	LOOM
http://purl.bioontology.org/ontology/OMIM/551500	OMIM	LOOM
http://www.semanticweb.org/hamide/ontologies/2019/3/untitled-ontology-14#IRD_6_60	HAMIDEHSGH	LOOM
http://identifiers.org/omim/551500	REXO	LOOM
http://identifiers.org/omim/551500	RETO	LOOM
http://purl.bioontology.org/ontology/MESH/C537396	MESH	LOOM