Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

SPINOCEREBELLAR ATAXIA 14

Synonyms

SCA14

ID

http://purl.bioontology.org/ontology/OMIM/605361

altLabel

SCA14

cui

C1854369

Gene Locus

19q13.4

Gene Symbol

PKCC

PRKCG

SCA14

PKCG

Has manifestation

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

http://purl.bioontology.org/ontology/OMIM/MTHU004469

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU004475

http://purl.bioontology.org/ontology/OMIM/MTHU004473

http://purl.bioontology.org/ontology/OMIM/MTHU004471

http://purl.bioontology.org/ontology/OMIM/MTHU001770

http://purl.bioontology.org/ontology/OMIM/MTHU036650

http://purl.bioontology.org/ontology/OMIM/MTHU001112

http://purl.bioontology.org/ontology/OMIM/MTHU004478

http://purl.bioontology.org/ontology/OMIM/MTHU004470

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

http://purl.bioontology.org/ontology/OMIM/MTHU004476

http://purl.bioontology.org/ontology/OMIM/MTHU004474

http://purl.bioontology.org/ontology/OMIM/MTHU038647

http://purl.bioontology.org/ontology/OMIM/MTHU000874

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

http://purl.bioontology.org/ontology/OMIM/MTHU029451

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

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

605361

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

SPINOCEREBELLAR ATAXIA 14

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C537196 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537196 Medical Subject Headings LOOM