albinism (Q81867)

Depigmentations of the general and oral tissues and their genetic foundations

A NEW EYE SYNDROME WITH X-CHROMOSOMAL TRANSMISSION. A FAMILY CLAN WITH FUNDUS ALBINISM, FOVEA HYPOPLASIA, NYSTAGMUS, MYOPIA, ASTIGMATISM AND DYSCHROMATOPSIA

A syndrome associating partial albinism and immunodeficiency

Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4

subclass of

disease

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image

Albinisitic man portrait.jpg
437 × 496; 79 KB

1 reference

https://es.wikipedia.org/w/index.php?title=Albinismo&oldid=120503122

Spanish Wikipedia

Wikimedia import URL

Albino Alligator 2008.jpg
2,223 × 1,563; 2.46 MB

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Albiino part Emajõel, Tartus, 2016. aasta veebruaris..jpg
4,103 × 2,320; 3.82 MB

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drug or therapy used for treatment

1 reference

language of work or name

13 December 2016

2 references

Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein

Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse

MITF

1 reference

Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)

TYR

3 references

Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA)

Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene

Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism

MYO5A

1 reference

Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene

RAB27A

1 reference

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

OCA2

1 reference

African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism

CACNA1F

1 reference

Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina

EDNRB

1 reference

ABCD syndrome is caused by a homozygous mutation in the EDNRB gene

TYRP1

1 reference

Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3"

SLC45A2

1 reference

Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4

GPR143

1 reference

Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome

HPS1

1 reference

Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles

MLPH

1 reference

Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1)

described by source

Ottův slovník naučný

Q23851956

1 reference

inferred from

Q23851956

Dictionnaire Infernal

Small Brockhaus and Efron Encyclopedic Dictionary

Q29366013

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Brockhaus and Efron Encyclopedic Dictionary

Q24731477

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Q24330527

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The Nuttall Encyclopædia

Meyers Konversations-Lexikon, 4th edition (1885–1890)

Albinos

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Meyers Konversations-Lexikon, 4th edition (1885–1890)

Q112754884

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Encyclopædia Britannica 11th edition

1911 Encyclopædia Britannica/Albino

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The New Student's Reference Work

The New Student's Reference Work/Albino

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Armenian Soviet Encyclopedia, vol. 1

page(s)

148

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NCI Thesaurus ID

C84543

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exact match

http://purl.obolibrary.org/obo/HP_0001022

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

HP:0001022

Commons gallery

Albinism

1 reference

Bibliothèque nationale de France ID

Czech Wikipedia

Commons category

Albinism

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topic's main category

Category:Albinism

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Identifiers

12226784f

Albinisme

1 reference

https://thes.bncf.firenze.sbn.it/termine.php?id=50088

Nuovo soggettario

reference URL

16 June 2021

GND ID

4304941-2

1 reference

National Library of Israel J9U ID

German Wikipedia

FAST ID

804199

0 references

987007292898805171

1 reference

National Library of Israel

Library of Congress authority ID

sh85003229

1 reference

German Wikipedia

NDL Authority ID

00562856

1 reference

albinismus

1 reference

Czech National Authority Database

21 February 2023

albínky

1 reference

Czech National Authority Database

2 May 2023

Albinism

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

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1 reference

AniDB tag ID

1937

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ASC Leiden Thesaurus ID

294897925

1 reference

ASC Leiden Thesaurus dataset of 5 June 2018

Australian Educational Vocabulary ID

13 June 2018

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1 reference

1 reference

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1 reference

0 references

1 reference

Encyclopædia Britannica Online ID

science/albinism

Encyclopædia Universalis ID

albinism

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0 references

1 reference

28 October 2013

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1 reference

Genetic and Rare Diseases Information Center

Gran Enciclopèdia Catalana ID

1 April 2019

5768

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albinisme

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Gran Enciclopèdia Catalana ID (former scheme)

0076351

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Great Russian Encyclopedia Online ID (old version)

1815307

reason for deprecated rank

АЛЬБИНИЗМ

redirected to GRE portal

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Great Russian Encyclopedia portal ID

al-binizm-d6ca0a

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HP:0001022

1 reference

Human Phenotype Ontology release 2018-03-08

8 October 2018

ICD-10 Online version (2010)

1 reference

ICD-9 ID

270.2

1 reference

International Classification of Diseases, Ninth Revision (ICD-9)

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1 reference

9 July 2020

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OmegaWiki Defined Meaning

775049

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OMIM ID

203100

1 reference

103470

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203200

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203290

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203300

1 reference

203310

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256710

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278400

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214450

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214500

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220900

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300500

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300600

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300650

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300700

1 reference

600501

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604228

1 reference

606574

1 reference

606952

1 reference

607624

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609227

1 reference

https://docs.openalex.org/download-snapshot/snapshot-data-format

1 reference

26 January 2022

Patientplus ID

albinism

1 reference

reference URL

http://www.patient.co.uk/patientplus/a.htm

1 reference

0 references

ScienceDirect topic ID

agricultural-and-biological-sciences/albinism

0 references

Store medisinske leksikon ID

albinisme

mapping relation type

exact match

albinisme

1 reference