(Q7234989)

English

Potocki–Shaffer syndrome

human disease

Chromosome 11P11.2 Deletion Syndrome
Proximal 11P Deletion Syndrome
POTOCKI-SHAFFER SYNDROME
11p11.2 deletion
Pss
Defect11 Syndrome
Potocki-Shaffer syndrome

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No description defined

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Statements

instance of

rare disease

0 references

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0011022

partial deletion of the short arm of chromosome 11

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0011022

chromosomal deletion syndrome

1 reference

30 November 2020

1 reference

30 November 2020

1 reference

13 August 2019

1 reference

13 August 2019

758.39

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

C75456

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://www.orpha.net/ORDO/Orphanet_52022

0 references

http://purl.obolibrary.org/obo/DOID_0111687

1 reference

30 November 2020

http://identifiers.org/doid/DOID:0111687

1 reference

stated in

Identifiers.org

reference URL

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

Identifiers

MeSH descriptor ID

C538356

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

30 November 2020

1 reference

imported from Wikimedia project

English Wikipedia

GARD rare disease ID

9762

0 references

Genetics Home Reference Conditions ID

potocki-shaffer-syndrome

0 references

ICD-10-CM

Q93.5

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0011022

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

1 reference

imported from Wikimedia project

English Wikipedia

Wikimedia import URL

https://en.wikipedia.org/w/index.php?title=Potocki–Shaffer_syndrome&oldid=948391147

UMLS CUI

C1832588

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

Potocki–Shaffer syndrome

0 references

(Q7234989)

Potocki–Shaffer syndrome

Statements

Identifiers

Sitelinks

Wikipedia(3 entries)

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