(Q21154075)

English

chromosome 2q32-q33 deletion syndrome

Human disease

2q32-q33 microdeletion syndrome
2q32q33 microdeletion syndrome
Glass syndrome
monosomy 2q32
monosomy 2q32-q33
monosomy 2q32q33
Del(2)(q32)
GLASS
GLASS SYNDROME; GLASS
Chromosome 2Q32-Q33 Deletion Syndrome
Del(2)(q32q33)
SATB2-associated syndrome

In more languages

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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

chromosomal deletion syndrome

1 reference

29 November 2020

chromosome 2q deletion

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

29 November 2020

0 references

2 references

Heterozygous nonsense mutation SATB2 associated with cleft palate, osteoporosis, and cognitive defects.

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000119042/MONDO_0012864

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060428

1 reference

29 November 2020

http://identifiers.org/doid/DOID:0060428

1 reference

stated in

Identifiers.org

reference URL

https://registry.identifiers.org/registry/doid

http://www.orpha.net/ORDO/Orphanet_251019

0 references

Identifiers

MeSH descriptor ID

C567350

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

29 November 2020

2 references

28 August 2019

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

1 reference

28 August 2019

1 reference

28 August 2019

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

inferred by common Orphanet mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

16 June 2023

Sitelinks

Wikipedia(1 entry)

trwiki Glass sendromu

(Q21154075)

chromosome 2q32-q33 deletion syndrome

Statements

Identifiers

Sitelinks

Wikipedia(1 entry)

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