(Q55783984)

English

cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome

human disease

HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS
HYPERMANGANESEMIA WITH DYSTONIA, POLYCYTHEMIA, AND CIRRHOSIS; HMDPC
HMDPC

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Statements

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class of disease

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rare parkinsonian syndrome due to genetic neurodegenerative disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

manganese metabolism disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

rare metabolic liver disease

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

hypermanganesemia with dystonia

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genetic association

2 references

Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man

Open Targets Platform

24 August 2023

https://platform.opentargets.org/evidence/ENSG00000196660/Orphanet_309854

based on heuristic

inferred from an Open Targets association score over 0.7

277.89

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

http://www.orpha.net/ORDO/Orphanet_309854

0 references

Identifiers

MeSH descriptor ID

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

GARD rare disease ID

0 references

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

mapping relation type

1 reference

Monarch Disease Ontology release 2018-06-29

28 July 2018

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