Kufor-Rakeb syndrome

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Kufor-Rakeb syndrome (KRS) is a rare genetic neurodegenerative disorder characterized by juvenile Parkinsonism, pyramidal degeneration (dystonia), supranuclear palsy, and cognitive impairment

External resources

WikiProjectMed ID	Kufor–Rakeb syndrome
Orphanet ID	306674^[೧]
OMIM ID	606693^[೧]
MeSH descriptor ID	C537177^[೨] mapping relation type: exact match C537177
ICD-10-CM	G23.0^[೩]
Mondo ID	MONDO_0011706
KEGG ID	H02207
UniProt disease ID	DI-01870
Disease Ontology ID	DOID:0060556^[೪]
UMLS CUI	C3715048^[೩] mapping relation type: close match C1847640^[೧]

ಉದಾಹರಣೆಗೆ

rare disease

class of disease

ಉಪವರ್ಗ

neurodegeneration with brain iron accumulation^[೩]

juvenile-onset Parkinson disease^[೫]^[೩]

eye degenerative disease^[೩]

ಅನುವಂಶಿಕ ಕಾಯಿಲೆಗಳು^[೫]

young-onset Parkinson disease^[೪]

autosomal recessive disease^[೪]

genetic association

ATP13A2^[೬]^[೭]^[೮]

on focus list of Wikimedia project

WikiProject Medicine

NCI Thesaurus ID

C203534

exact match

http://purl.obolibrary.org/obo/DOID_0060556^[೪]

http://identifiers.org/doid/DOID:0060556^[೯]

http://www.orpha.net/ORDO/Orphanet_306674

http://www.orpha.net/ORDO/Orphanet_314632

Reference

↑ ^೧.೦ ^೧.೧ ^೧.೨ Disease Ontology, ೨೮ ಆಗಸ್ಟ್ 2019, DOID:0060556
↑ Monarch Disease Ontology release 2018-06-29, MONDO_0011706, ೩ ಜುಲೈ 2018
↑ ^೩.೦ ^೩.೧ ^೩.೨ ^೩.೩ ^೩.೪ Monarch Disease Ontology release 2018-06-29, ೩ ಜುಲೈ 2018, MONDO_0011706
↑ ^೪.೦ ^೪.೧ ^೪.೨ ^೪.೩ Disease Ontology, ೩೦ ನವೆಂಬರ್ 2020, DOID:0060556
↑ ^೫.೦ ^೫.೧ Disease Ontology, ೧೫ ಮೇ 2019, DOID:0060556
↑ Q9NQ11, ೧೩ ಆಗಸ್ಟ್ 2019, UniProt
↑ Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
↑ Open Targets Platform, ೨೪ ಆಗಸ್ಟ್ 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000159363/MONDO_0011706
↑ Identifiers.org, https://registry.identifiers.org/registry/doid

[r59b29957-1] ೧.೦ ^೧.೧ ^೧.೨ Disease Ontology, ೨೮ ಆಗಸ್ಟ್ 2019, DOID:0060556

[rcb26005f-2] Monarch Disease Ontology release 2018-06-29, MONDO_0011706, ೩ ಜುಲೈ 2018

[r0cd26716-3] ೩.೦ ^೩.೧ ^೩.೨ ^೩.೩ ^೩.೪ Monarch Disease Ontology release 2018-06-29, ೩ ಜುಲೈ 2018, MONDO_0011706

[re92fee5e-4] ೪.೦ ^೪.೧ ^೪.೨ ^೪.೩ Disease Ontology, ೩೦ ನವೆಂಬರ್ 2020, DOID:0060556

[r122fb474-5] ೫.೦ ^೫.೧ Disease Ontology, ೧೫ ಮೇ 2019, DOID:0060556

[redec90bd-6] Q9NQ11, ೧೩ ಆಗಸ್ಟ್ 2019, UniProt

[r94927c7a-7] Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase

[r2bc03ae6-8] Open Targets Platform, ೨೪ ಆಗಸ್ಟ್ 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000159363/MONDO_0011706

[raccfa3a2-9] Identifiers.org, https://registry.identifiers.org/registry/doid

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