Medical Subject Headings

Last uploaded: August 28, 2024
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Preferred Name

Albinism, Ocular
Synonyms

Ocular Albinism
Definitions

Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
ID

http://purl.bioontology.org/ontology/MESH/D016117
altLabel

Ocular Albinism
AN

hypopigmentation of eye; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
cui

C0078917
DC

1
definition

Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
DX

19910101
HN

91
Inverse of AQ

http://purl.bioontology.org/ontology/MESH/Q000097

http://purl.bioontology.org/ontology/MESH/Q000178

http://purl.bioontology.org/ontology/MESH/Q000175

http://purl.bioontology.org/ontology/MESH/Q000628

http://purl.bioontology.org/ontology/MESH/Q000276

http://purl.bioontology.org/ontology/MESH/Q000134

http://purl.bioontology.org/ontology/MESH/Q000139

http://purl.bioontology.org/ontology/MESH/Q000266

http://purl.bioontology.org/ontology/MESH/Q000378

http://purl.bioontology.org/ontology/MESH/Q000517

http://purl.bioontology.org/ontology/MESH/Q000662

http://purl.bioontology.org/ontology/MESH/Q000469

http://purl.bioontology.org/ontology/MESH/Q000150

http://purl.bioontology.org/ontology/MESH/Q000821

http://purl.bioontology.org/ontology/MESH/Q000191

http://purl.bioontology.org/ontology/MESH/Q000196

http://purl.bioontology.org/ontology/MESH/Q000473

http://purl.bioontology.org/ontology/MESH/Q000145

http://purl.bioontology.org/ontology/MESH/Q000382

http://purl.bioontology.org/ontology/MESH/Q000451

http://purl.bioontology.org/ontology/MESH/Q000453

http://purl.bioontology.org/ontology/MESH/Q000534

http://purl.bioontology.org/ontology/MESH/Q000532

http://purl.bioontology.org/ontology/MESH/Q000503

http://purl.bioontology.org/ontology/MESH/Q000188

http://purl.bioontology.org/ontology/MESH/Q000235

http://purl.bioontology.org/ontology/MESH/Q000201

http://purl.bioontology.org/ontology/MESH/Q000209

http://purl.bioontology.org/ontology/MESH/Q000208

http://purl.bioontology.org/ontology/MESH/Q000601

http://purl.bioontology.org/ontology/MESH/Q000000981

http://purl.bioontology.org/ontology/MESH/Q000652

http://purl.bioontology.org/ontology/MESH/Q000523

http://purl.bioontology.org/ontology/MESH/Q000401
Machine permutation

91
Mapped from

http://purl.bioontology.org/ontology/MESH/C537043

http://purl.bioontology.org/ontology/MESH/C537044

http://purl.bioontology.org/ontology/MESH/C562664

http://purl.bioontology.org/ontology/MESH/C537863
MDA

19900212
MMR

20160701
MN

C16.320.290.040.090

C18.452.648.100.102.090

C17.800.621.440.102.090

C16.320.565.100.102.090

C11.270.040.090

C17.800.827.080.090

C16.320.850.080.090
notation

D016117
prefLabel

Albinism, Ocular
TERMUI

T047886

T842176
TH

NLM (1991)

GHR (2014)
tui

T019
subClassOf

http://purl.bioontology.org/ontology/MESH/D000417
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SNMI/D6-A2500 SNMI CUI
http://purl.bioontology.org/ontology/MEDDRA/10065276 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/26399002 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10065276 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/P3y0. RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D016117 MSHFRE CUI
http://purl.bioontology.org/ontology/OMIM/MTHU037236 OMIM CUI
http://purl.bioontology.org/ontology/SCTSPA/26399002 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.319 ICD10CM CUI
http://purl.bioontology.org/ontology/MDRGER/10065276 MDRGER CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003371 NDFRT CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.31 ICD10CM CUI
http://purl.jp/bio/4/id/200906006705102460 IOBC LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036595 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.621.440.102.090 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.040.090 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016117 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.080.090 RH-MESH LOOM
http://www.semanticweb.org/ontologies/2012/5/Ontology1338526551855.owl#Albinism,_Ocular RPO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.040.090 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0016681 OMIT LOOM
http://id.nlm.nih.gov/mesh/D016117 MDM LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.080.090 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.100.102.090 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.100.102.090 RH-MESH LOOM