Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024

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Preferred Name	NORRIE DISEASE
Synonyms	ND
ID	http://purl.bioontology.org/ontology/OMIM/310600
altLabel	ND EPISKOPI BLINDNESS ATROPHIA BULBORUM HEREDITARIA
cui	C0266526
Gene Locus	Xp11.4
Gene Symbol	NDP EVR2 ND
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000248 http://purl.bioontology.org/ontology/OMIM/MTHU020471 http://purl.bioontology.org/ontology/OMIM/MTHU002325 http://purl.bioontology.org/ontology/OMIM/MTHU020469 http://purl.bioontology.org/ontology/OMIM/MTHU020464 http://purl.bioontology.org/ontology/OMIM/MTHU020461 http://purl.bioontology.org/ontology/OMIM/MTHU000607 http://purl.bioontology.org/ontology/OMIM/MTHU004637 http://purl.bioontology.org/ontology/OMIM/MTHU020468 http://purl.bioontology.org/ontology/OMIM/MTHU020465 http://purl.bioontology.org/ontology/OMIM/MTHU036342 http://purl.bioontology.org/ontology/OMIM/MTHU004893 http://purl.bioontology.org/ontology/OMIM/MTHU020467 http://purl.bioontology.org/ontology/OMIM/MTHU002910 http://purl.bioontology.org/ontology/OMIM/MTHU020473 http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU068179 http://purl.bioontology.org/ontology/OMIM/MTHU036401 http://purl.bioontology.org/ontology/OMIM/MTHU020470 http://purl.bioontology.org/ontology/OMIM/MTHU020466 http://purl.bioontology.org/ontology/OMIM/MTHU020472 http://purl.bioontology.org/ontology/OMIM/MTHU020474 http://purl.bioontology.org/ontology/OMIM/MTHU000152 http://purl.bioontology.org/ontology/OMIM/MTHU000242
MIMTYPEMEANING	Phenotype description, molecular basis known.
Moved from	309700
notation	310600
OMIM Entry Type	3
OMIM MimType Value	pound
prefLabel	NORRIE DISEASE
Scope Statement	Caused by mutation in the norrin cystine knot growth factor gene (NDP, 300658.0001) [MOLECULAR BASIS] Eye involvement begins at birth, neurologic involvement begins later [MISCELLANEOUS]
tui	T019

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRFRE/10069760	MDRFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/15228007	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/CSP/1840-2225	CRISP	CUI
http://purl.bioontology.org/ontology/SCTSPA/15228007	SCTSPA	CUI
http://purl.bioontology.org/ontology/CSP/1114-9698	CRISP	CUI
http://purl.bioontology.org/ontology/MEDDRA/10069760	MEDDRA	CUI
http://purl.bioontology.org/ontology/RCD/X00dN	RCD	CUI
http://purl.bioontology.org/ontology/MDRGER/10069760	MDRGER	CUI
http://purl.bioontology.org/ontology/MESH/C537849	MESH	CUI
http://purl.bioontology.org/ontology/SNMI/D4-A0020	SNMI	CUI
http://purl.bioontology.org/ontology/CSP/0977-5812	CRISP	CUI
http://purl.obolibrary.org/obo/MONDO_0010691	EFO	LOOM
http://purl.obolibrary.org/obo/MONDO_0010691	MONDO	LOOM
http://purl.obolibrary.org/obo/DOID_0060844	DOID	LOOM
http://purl.obolibrary.org/obo/DOID_0060844	HHEAR	LOOM
http://purl.obolibrary.org/obo/DOID_0060844	NIFSTD	LOOM
http://purl.obolibrary.org/obo/DOID_0060844	FNS-H	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_190	HRDO	LOOM
http://sbmi.uth.tmc.edu/ontology/ochv#C0266526	OCHV	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C537849	RH-MESH	LOOM
http://purl.obolibrary.org/obo/MONDO_0010691	DOVES	LOOM
http://identifiers.org/omim/310600	REXO	LOOM
http://identifiers.org/omim/310600	GEXO	LOOM
http://identifiers.org/omim/310600	RETO	LOOM
http://purl.obolibrary.org/obo/OMIM_310600	CCO	LOOM
http://purl.bioontology.org/ontology/MESH/C537849	MESH	LOOM
http://www.gamuts.net/entity#Norrie_disease	GAMUTS	LOOM
http://www.orpha.net/ORDO/Orphanet_649	ORDO	LOOM