Medical Subject Headings

Last uploaded: January 31, 2024
Preferred Name

Albinism, Oculocutaneous

Synonyms

Albinism, Tyrosinase Negative

Yellow Mutant Albinism

Definitions

Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.

ID

http://purl.bioontology.org/ontology/MESH/D016115

altLabel

Albinism, Tyrosinase Negative

Albinism, Yellow-Mutant

Albinism, Tyrosinase Positive

Albinism, Tyrosinase-Negative

Albinism, Yellow Mutant

Oculocutaneous Albinism

Albinism, Tyrosinase-Positive

Tyrosinase-Positive Albinism

Mutant Albinism, Yellow

Yellow-Mutant Albinism

Mutant Albinisms, Yellow

Tyrosinase-Negative Albinism

Yellow Mutant Albinism

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

C0078922

C0078923

C0078918

C0078921

DC

1

definition

Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.

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/C536919

http://purl.bioontology.org/ontology/MESH/C564696

http://purl.bioontology.org/ontology/MESH/C566872

http://purl.bioontology.org/ontology/MESH/C564645

http://purl.bioontology.org/ontology/MESH/C537728

http://purl.bioontology.org/ontology/MESH/C537729

http://purl.bioontology.org/ontology/MESH/C562662

http://purl.bioontology.org/ontology/MESH/C537730

http://purl.bioontology.org/ontology/MESH/C565646

http://purl.bioontology.org/ontology/MESH/C537189

MDA

19900212

MMR

20160701

MN

C16.320.290.040.100

C16.320.850.080.100

C17.800.621.440.102.100

C16.320.565.100.102.100

C17.800.827.080.100

C18.452.648.100.102.100

C11.270.040.545

notation

D016115

prefLabel

Albinism, Oculocutaneous

TERMUI

T842177

T047880

T047879

T047881

T753629

T047878

TH

NLM (1991)

NLM (2010)

GHR (2014)

ORD (2010)

tui

T033

T019

subClassOf

http://purl.bioontology.org/ontology/MESH/D000417

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MSHFRE/D016115 MSHFRE CUI
http://purl.bioontology.org/ontology/MSHFRE/D016115 MSHFRE CUI
http://purl.bioontology.org/ontology/RCD/X40Rp RCD CUI
http://purl.bioontology.org/ontology/MSHFRE/D016115 MSHFRE CUI
http://purl.bioontology.org/ontology/SCTSPA/63844009 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/63844009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.329 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/D6-A2410 SNMI CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003369 NDFRT CUI
http://purl.bioontology.org/ontology/MSHFRE/D016115 MSHFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E70.32 ICD10CM CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D016115 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.850.080.100 RH-MESH LOOM
http://purl.obolibrary.org/obo/OMIT_0016679 OMIT LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036596 PMAPP-PMO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C18.452.648.100.102.100 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.827.080.100 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C11.270.040.545 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.565.100.102.100 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C17.800.621.440.102.100 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.290.040.100 RH-MESH LOOM
http://purl.jp/bio/4/id/200906057701763929 IOBC LOOM