(Q55998732)

English

myoglobinuria, acute recurrent, autosomal recessive

human disease

Myoglobinuria, Familial Paroxysmal Paralytic
Rhabdomyolysis, Acute Recurrent
MYOGLOBINURIA, ACUTE RECURRENT, AUTOSOMAL RECESSIVE
genetic recurrent myoglobinuria

In more languages

Statements

class of disease

0 references

myoglobinuria, recurrent

0 references

muscular lipidosis

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

genetic association

3 references

8 December 2020

https://search.clinicalgenome.org/kb/gene-validity/642c8d4a-d498-4739-957d-a4e0d457362a--2018-09-25T16:00:00

25 January 2022

https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_642c8d4a-d498-4739-957d-a4e0d457362a-2018-09-25T160000.000Z

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000134324/MONDO_0020504

based on heuristic

inferred from an Open Targets association score over 0.7

http://www.orpha.net/ORDO/Orphanet_99845

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

0 references

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

0 references

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

7 August 2018

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

6 August 2018

UniProt disease ID

0 references

Sitelinks

Wikipedia(0 entries)

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Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

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Multilingual sites(0 entries)

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