Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
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Preferred Name

NORRIE DISEASE
Synonyms

ND

EPISKOPI BLINDNESS

ATROPHIA BULBORUM HEREDITARIA
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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Delete 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/DOID_0060844 DOID LOOM
http://purl.obolibrary.org/obo/DOID_0060844 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0060844 DDSS LOOM
http://purl.obolibrary.org/obo/DOID_0060844 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0060844 FNS-H LOOM
rgo:26663 GAMUTS 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 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0010691 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0010691 MONDO LOOM
http://purl.obolibrary.org/obo/MONDO_0010691 EFO 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.orpha.net/ORDO/Orphanet_649 ORDO LOOM