(Q21154064)

English

chromosome 17q12 deletion syndrome

rare human disease caused by partial deletion of the long arm of chromosome 17

17q12 microdeletion syndrome
Del(17)(q12)
Monosomy 17q12
CHROMOSOME 17q12 DELETION SYNDROME

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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

chromosomal deletion syndrome

1 reference

30 November 2020

partial deletion of the long arm of chromosome 17

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013797

autosomal dominant disease

1 reference

30 November 2020

0 references

1 reference

Genetics Home Reference

retrieved

14 October 2019

reference URL

https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060404

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0060404

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_261265

0 references

Identifiers

1 reference

30 November 2020

2 references

Genetic and Rare Diseases Information Center

29 March 2019

28 August 2019

Genetics Home Reference Conditions ID

17q12-deletion-syndrome

0 references

2 references

28 August 2019

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

28 August 2019

1 reference

28 August 2019

mapping relation type

exact 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

16 June 2023

17q12 microdeletion syndrome

0 references

(Q21154064)

chromosome 17q12 deletion syndrome

Statements

Identifiers

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