(Q55784781)

English

optic atrophy-intellectual disability syndrome

human disease

BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME
BBSOAS
BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME; BBSOAS
Bosch-Boonstra-Schaaf optic atrophy syndrome

In more languages

default values for all languages

No label defined

No description defined

Statements

0 references

class of disease

0 references

genetic syndromic intellectual disability

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

syndromic hereditary optic neuropathy

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

genetic association

3 references

NR2F1 mutations cause optic atrophy with intellectual disability.

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000175745/MONDO_0014320

based on heuristic

inferred from an Open Targets association score over 0.7

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000175745/Orphanet_401777

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_401777

0 references

Identifiers

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

UniProt disease ID

0 references

WikiProjectMed ID

Bosch-Boonstra-Schaaf optic atrophy syndrome

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Sitelinks

Wikipedia(3 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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