(Q48989142)

English

Kenny-Caffey syndrome

A genetic condition characterized by long bone sclerosis and thickening, short stature, and head and eye anomalies. Many affected individuals have hypoparathyroidism with hypocalcemia.

Kenny syndrome

In more languages

Statements

developmental defect during embryogenesis

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

class of disease

0 references

0 references

Slender bone dysplasia

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

malformation syndrome with short stature

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

syndrome with hypoparathyroidism

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

osteochondrodysplasia

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

genetic association

1 reference

FAM111A mutations result in hypoparathyroidism and impaired skeletal development

759.89

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

NCI Thesaurus ID

C130991

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://www.orpha.net/ORDO/Orphanet_2333

0 references

http://purl.obolibrary.org/obo/DOID_0080724

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

http://identifiers.org/doid/DOID:0080724

1 reference

Identifiers.org

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

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

Disease Ontology ID

1 reference

Disease Ontology

30 November 2020

Disease Ontology ID

Encyclopædia Britannica Online ID

science/Caffey-syndrome

subject named as

Caffey syndrome

0 references

Google Knowledge Graph ID

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

based on heuristic

inferred by common MeSH mappings on source and on Wikidata

25 May 2023

WikiProjectMed ID

Kenny-Caffey syndrome

0 references

Sitelinks

Wikipedia(2 entries)

dewiki Kenny-Caffey-Syndrom
enwiki Kenny-Caffey syndrome

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

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