(Q21154076)

English

chromosome 16p11.2 duplication syndrome

Human disease

proximal 16p11.2 microduplication syndrome
proximal dup(16)(p11.2)
proximal trisomy 16p11.2
CHROMOSOME 16p11.2 DUPLICATION SYNDROME
Autism, Susceptibility To, 14B

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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 duplication syndrome

1 reference

30 November 2020

partial duplication of the short arm of chromosome 16

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013847

genetic syndromic intellectual disability

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0013847

heritability of autism

0 references

0 references

1 reference

Genetics Home Reference

retrieved

14 October 2019

reference URL

https://ghr.nlm.nih.gov/condition/16p112-duplication

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060430

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0060430

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_370079

0 references

Identifiers

PatientsLikeMe condition ID

chromosome-16p-11-2-duplication

0 references

1 reference

30 November 2020

1 reference

Genetic and Rare Diseases Information Center

29 March 2019

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

close 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

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

(Q21154076)

chromosome 16p11.2 duplication syndrome

Statements

Identifiers

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