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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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No label defined
No description defined
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Statements
instance of
rare disease
0 references
class of disease
0 references
subclass of
rare parkinsonian syndrome due to genetic neurodegenerative disease
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013208
manganese metabolism disease
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013208
rare metabolic liver disease
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013208
hypermanganesemia with dystonia
0 references
genetic association
SLC30A10
2 references
stated in
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man
stated in
Open Targets Platform
retrieved
24 August 2023
reference URL
https://platform.opentargets.org/evidence/ENSG00000196660/Orphanet_309854
based on heuristic
inferred from an Open Targets association score over 0.7
ICD-9-CM
277.89
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013208
exact match
http://www.orpha.net/ORDO/Orphanet_309854
0 references
Identifiers
MeSH descriptor ID
C548016
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013208
GARD rare disease ID
10706
0 references
Mondo ID
MONDO_0013208
0 references
OMIM ID
613280
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013208
Orphanet ID
309854
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013208
UMLS CUI
C2750442
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0013208
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