Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

SPINOCEREBELLAR ATAXIA 17
Synonyms

HUNTINGTON DISEASE-LIKE 4
ID

http://purl.bioontology.org/ontology/OMIM/607136
altLabel

HUNTINGTON DISEASE-LIKE 4

HDL4

SCA17
cui

C1846707
Gene Locus

6q27
Gene Symbol

TBP

HDL4

SCA17
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU003636

http://purl.bioontology.org/ontology/OMIM/MTHU003630

http://purl.bioontology.org/ontology/OMIM/MTHU037191

http://purl.bioontology.org/ontology/OMIM/MTHU003622

http://purl.bioontology.org/ontology/OMIM/MTHU036384

http://purl.bioontology.org/ontology/OMIM/MTHU000283

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU036372

http://purl.bioontology.org/ontology/OMIM/MTHU000764

http://purl.bioontology.org/ontology/OMIM/MTHU000928

http://purl.bioontology.org/ontology/OMIM/MTHU020275

http://purl.bioontology.org/ontology/OMIM/MTHU001410

http://purl.bioontology.org/ontology/OMIM/MTHU003632

http://purl.bioontology.org/ontology/OMIM/MTHU000782

http://purl.bioontology.org/ontology/OMIM/MTHU020273

http://purl.bioontology.org/ontology/OMIM/MTHU036402

http://purl.bioontology.org/ontology/OMIM/MTHU029576

http://purl.bioontology.org/ontology/OMIM/MTHU025336

http://purl.bioontology.org/ontology/OMIM/MTHU003629

http://purl.bioontology.org/ontology/OMIM/MTHU025338

http://purl.bioontology.org/ontology/OMIM/MTHU003621

http://purl.bioontology.org/ontology/OMIM/MTHU003627

http://purl.bioontology.org/ontology/OMIM/MTHU003625

http://purl.bioontology.org/ontology/OMIM/MTHU001337

http://purl.bioontology.org/ontology/OMIM/MTHU003623

http://purl.bioontology.org/ontology/OMIM/MTHU000765

http://purl.bioontology.org/ontology/OMIM/MTHU036363

http://purl.bioontology.org/ontology/OMIM/MTHU003631

http://purl.bioontology.org/ontology/OMIM/MTHU003635

http://purl.bioontology.org/ontology/OMIM/MTHU000282

http://purl.bioontology.org/ontology/OMIM/MTHU020274

http://purl.bioontology.org/ontology/OMIM/MTHU036401

http://purl.bioontology.org/ontology/OMIM/MTHU020272

http://purl.bioontology.org/ontology/OMIM/MTHU001411

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU036543

http://purl.bioontology.org/ontology/OMIM/MTHU000440

http://purl.bioontology.org/ontology/OMIM/MTHU025337

http://purl.bioontology.org/ontology/OMIM/MTHU000940

http://purl.bioontology.org/ontology/OMIM/MTHU003624

http://purl.bioontology.org/ontology/OMIM/MTHU000535

http://purl.bioontology.org/ontology/OMIM/MTHU003626

http://purl.bioontology.org/ontology/OMIM/MTHU000136
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

607136
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

SPINOCEREBELLAR ATAXIA 17
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C564616 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C564616 Medical Subject Headings LOOM