oculocutaneous albinism type 1 (Q1401065)

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medical condition

• Oculocutaneous albinism type I
• OCA1

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Language	Label	Description	Also known as
English	oculocutaneous albinism type 1	medical condition	Oculocutaneous albinism type I OCA1

Statements

instance of

class of disease

0 references

subclass of

oculocutaneous albinism

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0018135

image

Albinistic girl papua new guinea.jpg
355 × 277; 52 KB

0 references

genetic association

TYR

2 references

stated in

ClinGen

retrieved

9 December 2020

reference URL

https://search.clinicalgenome.org/kb/gene-validity/c9b52af2-1674-4f3d-9d7f-398a5f7f6875--2020-08-28T16:00:00

stated in

ClinGen

retrieved

25 January 2022

reference URL

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c9b52af2-1674-4f3d-9d7f-398a5f7f6875-2020-08-28T160000.000Z

exact match

http://www.orpha.net/ORDO/Orphanet_352731

0 references

Identifiers

MeSH descriptor ID

C537729

0 references

GARD rare disease ID

4037

0 references

ICD-10-CM

E70.3

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0018135

Microsoft Academic ID

2781331152

0 references

Mondo ID

MONDO_0018135

0 references

OMIM ID

203100

1 reference

imported from Wikimedia project

English Wikipedia

606952

0 references

Orphanet ID

352731

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0018135

UMLS CUI

C0268494

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0018135

C1847024

1 reference

based on heuristic

inferred by common MeSH mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

25 May 2023

 

Sitelinks

Wikipedia(3 entries)

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• dewiki Okulokutaner Albinismus Typ 1
• enwiki Oculocutaneous albinism type I
• frwiki Albinisme oculo-cutané type I

Wikibooks(0 entries)

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Wikinews(0 entries)

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Wikiquote(0 entries)

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Wikisource(0 entries)

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Wikiversity(0 entries)

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Wikivoyage(0 entries)

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Wiktionary(0 entries)

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Multilingual sites(0 entries)

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