King-Denborough syndrome (Q56014439)

From Wikidata

Jump to navigation Jump to search

No description defined

• Kousseff Nichols syndrome
• Noonan like contracture myopathy hyperpyrexia
• Koussef-Nichols syndrome

edit

Language	Label	Description	Also known as
English	King-Denborough syndrome	No description defined	Kousseff Nichols syndrome Noonan like contracture myopathy hyperpyrexia Koussef-Nichols syndrome

Statements

instance of

class of disease

0 references

subclass of

congenital myopathy

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0020485

genetic association

RYR1

1 reference

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000196218/MONDO_0020485

based on heuristic

inferred from an Open Targets association score over 0.7

exact match

http://www.orpha.net/ORDO/Orphanet_99741

0 references

Identifiers

MeSH descriptor ID

C536883

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0020485

C537504

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0020485

GARD rare disease ID

8561

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0020485

ICD-10-CM

G71.2

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0020485

Mondo ID

MONDO_0020485

0 references

Orphanet ID

99741

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0020485

UMLS CUI

C2931510

mapping relation type

close match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0020485

C1840365

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

7 August 2018

Mondo ID

MONDO_0020485

 

Sitelinks

Wikipedia(0 entries)

edit

Wikibooks(0 entries)

edit

Wikinews(0 entries)

edit

Wikiquote(0 entries)

edit

Wikisource(0 entries)

edit

Wikiversity(0 entries)

edit

Wikivoyage(0 entries)

edit

Wiktionary(0 entries)

edit

Multilingual sites(0 entries)

edit

Retrieved from "https://www.wikidata.org/w/index.php?title=Q56014439&oldid=2088124702"