(Q11781607)

English

Native American myopathy

Human disease

Myopathy, Congenital, With Cleft Palate and Malignant Hyperthermia
NAM
Congenital myopathy-cleft palate-malignant hyperthermia syndrome
NATIVE AMERICAN MYOPATHY; NAM
NATIVE AMERICAN MYOPATHY

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No label defined

No description defined

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Statements

instance of

genetic disease

0 references

developmental defect during embryogenesis

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0009722

head and neck disease

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

neuromuscular disease

1 reference

29 November 2020

orofacial clefting syndrome

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0009722

rare disease with malignant hyperthermia

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

1 reference

15 May 2019

autosomal recessive disease

1 reference

29 November 2020

1 reference

29 November 2020

7 references

13 August 2019

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy

9 December 2020

https://search.clinicalgenome.org/kb/gene-validity/940572b9-6a5a-4de1-8ee1-6394f589515f--2020-04-25T20:53:19

9 December 2020

https://search.clinicalgenome.org/kb/gene-validity/940572b9-6a5a-4de1-8ee1-6394f589515f--2020-04-25T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_940572b9-6a5a-4de1-8ee1-6394f589515f-2020-04-25T160000.000Z

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000185482/MONDO_0009722

based on heuristic

inferred from an Open Targets association score over 0.7

stated in

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000185482/Orphanet_168572

based on heuristic

inferred from an Open Targets association score over 0.7

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0060346

1 reference

29 November 2020

http://identifiers.org/doid/DOID:0060346

1 reference

stated in

Identifiers.org

reference URL

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

http://www.orpha.net/ORDO/Orphanet_168572

0 references

Identifiers

MeSH descriptor ID

C538343

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

0 references

1 reference

29 November 2020

1 reference

28 August 2019

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

0 references

1 reference

28 August 2019

1 reference

28 August 2019

1 reference

28 August 2019

0 references

Sitelinks

Wikipedia(1 entry)

plwiki Miopatia tubylczych Amerykanów

(Q11781607)

Native American myopathy

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Identifiers

Sitelinks

Wikipedia(1 entry)

Wikibooks(0 entries)

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Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

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Multilingual sites(0 entries)