Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

CEROID LIPOFUSCINOSIS, NEURONAL, 3

Synonyms

VOGT-SPIELMEYER DISEASE

ID

http://purl.bioontology.org/ontology/OMIM/204200

altLabel

VOGT-SPIELMEYER DISEASE

NEURONAL CEROID LIPOFUSCINOSIS, JUVENILE

SPIELMEYER-SJOGREN DISEASE

BATTEN DISEASE

CLN3

JNCL

cui

C0751383

Gene Locus

16p12.1

Gene Symbol

BTS

CLN3

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU036360

http://purl.bioontology.org/ontology/OMIM/MTHU001335

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

http://purl.bioontology.org/ontology/OMIM/MTHU014521

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

http://purl.bioontology.org/ontology/OMIM/MTHU001345

http://purl.bioontology.org/ontology/OMIM/MTHU001346

http://purl.bioontology.org/ontology/OMIM/MTHU002752

http://purl.bioontology.org/ontology/OMIM/MTHU003281

http://purl.bioontology.org/ontology/OMIM/MTHU031653

http://purl.bioontology.org/ontology/OMIM/MTHU002561

http://purl.bioontology.org/ontology/OMIM/MTHU002764

http://purl.bioontology.org/ontology/OMIM/MTHU048807

http://purl.bioontology.org/ontology/OMIM/MTHU014507

http://purl.bioontology.org/ontology/OMIM/MTHU045301

http://purl.bioontology.org/ontology/OMIM/MTHU014525

http://purl.bioontology.org/ontology/OMIM/MTHU000133

http://purl.bioontology.org/ontology/OMIM/MTHU045303

http://purl.bioontology.org/ontology/OMIM/MTHU045305

http://purl.bioontology.org/ontology/OMIM/MTHU014520

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

http://purl.bioontology.org/ontology/OMIM/MTHU001349

http://purl.bioontology.org/ontology/OMIM/MTHU001334

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

http://purl.bioontology.org/ontology/OMIM/MTHU000310

http://purl.bioontology.org/ontology/OMIM/MTHU014522

http://purl.bioontology.org/ontology/OMIM/MTHU000322

http://purl.bioontology.org/ontology/OMIM/MTHU000199

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

http://purl.bioontology.org/ontology/OMIM/MTHU048808

http://purl.bioontology.org/ontology/OMIM/MTHU004024

http://purl.bioontology.org/ontology/OMIM/MTHU014508

http://purl.bioontology.org/ontology/OMIM/MTHU045304

http://purl.bioontology.org/ontology/OMIM/MTHU045302

http://purl.bioontology.org/ontology/OMIM/MTHU002910

http://purl.bioontology.org/ontology/OMIM/MTHU014526

http://purl.bioontology.org/ontology/OMIM/MTHU014524

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

204200

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

CEROID LIPOFUSCINOSIS, NEURONAL, 3

tui

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/E75.4 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D009472 Medical Subject Headings CUI