(Q5558010)

English

Nicolaides–Baraitser syndrome

medical condition

Nicolaides-Baraitser syndrome
NICOLAIDES-BARAITSER SYNDROME; NCBRS
Nbs
Sparse Hair and Mental Retardation
NCBRS

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No label defined

No description defined

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Statements

instance of

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

syndromic intellectual disability

0 references

genetic syndromic intellectual disability

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0011053

multiple congenital anomalies/dysmorphic syndrome-intellectual disability

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

6 references

13 August 2019

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

6 September 2021

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5cde86bc-f99f-40cf-8c32-eac9f8f8a67d-2021-02-26T233454.041Z

10 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5cde86bc-f99f-40cf-8c32-eac9f8f8a67d-2020-08-18T160000.000Z

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000080503/MONDO_0011053

based on heuristic

inferred from an Open Targets association score over 0.7

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000080503/Orphanet_3051

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_3051

0 references

Commons category

Nicolaides-Baraitser syndrome

0 references

Identifiers

MeSH descriptor ID

C536116

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

Microsoft Academic ID

0 references

0 references

mapping relation type

exact match

2 references

imported from Wikimedia project

English Wikipedia

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

Sitelinks

Wikipedia(5 entries)

dewiki Nicolaides–Baraitser-Syndrom
enwiki Nicolaides–Baraitser syndrome
eswiki Síndrome de Nicolaides-Baraitser
fiwiki Nicolaides–Baraitserin oireyhtymä
itwiki Sindrome di Nicolaides-Baraitser

(Q5558010)

Nicolaides–Baraitser syndrome

Statements

Identifiers

Sitelinks

Wikipedia(5 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(1 entry)