Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

MUCOPOLYSACCHARIDOSIS, TYPE IIID
Synonyms

MPS IIID
ID

http://purl.bioontology.org/ontology/OMIM/252940
altLabel

MPS IIID

SANFILIPPO SYNDROME D

N-ACETYLGLUCOSAMINE-6-SULFATASE DEFICIENCY

MPS3D
cui

C0086650
Gene Locus

12q14
Gene Symbol

G6S

GNS
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU004092

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU007266

http://purl.bioontology.org/ontology/OMIM/MTHU008360

http://purl.bioontology.org/ontology/OMIM/MTHU011216

http://purl.bioontology.org/ontology/OMIM/MTHU011201

http://purl.bioontology.org/ontology/OMIM/MTHU028281

http://purl.bioontology.org/ontology/OMIM/MTHU001623

http://purl.bioontology.org/ontology/OMIM/MTHU000253

http://purl.bioontology.org/ontology/OMIM/MTHU005320

http://purl.bioontology.org/ontology/OMIM/MTHU001062

http://purl.bioontology.org/ontology/OMIM/MTHU011215

http://purl.bioontology.org/ontology/OMIM/MTHU011218

http://purl.bioontology.org/ontology/OMIM/MTHU011211

http://purl.bioontology.org/ontology/OMIM/MTHU012891

http://purl.bioontology.org/ontology/OMIM/MTHU011221

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU036353

http://purl.bioontology.org/ontology/OMIM/MTHU000680

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

http://purl.bioontology.org/ontology/OMIM/MTHU000265

http://purl.bioontology.org/ontology/OMIM/MTHU001746

http://purl.bioontology.org/ontology/OMIM/MTHU019543

http://purl.bioontology.org/ontology/OMIM/MTHU000554

http://purl.bioontology.org/ontology/OMIM/MTHU036369

http://purl.bioontology.org/ontology/OMIM/MTHU004559

http://purl.bioontology.org/ontology/OMIM/MTHU000226

http://purl.bioontology.org/ontology/OMIM/MTHU003667

http://purl.bioontology.org/ontology/OMIM/MTHU028282

http://purl.bioontology.org/ontology/OMIM/MTHU011219

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

http://purl.bioontology.org/ontology/OMIM/MTHU011217

http://purl.bioontology.org/ontology/OMIM/MTHU001853

http://purl.bioontology.org/ontology/OMIM/MTHU005321

http://purl.bioontology.org/ontology/OMIM/MTHU011222

http://purl.bioontology.org/ontology/OMIM/MTHU011212

http://purl.bioontology.org/ontology/OMIM/MTHU004146

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

http://purl.bioontology.org/ontology/OMIM/MTHU011210

http://purl.bioontology.org/ontology/OMIM/MTHU011220
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

252940
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MUCOPOLYSACCHARIDOSIS, TYPE IIID
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/E76.22 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84900 National Cancer Institute Thesaurus LOOM
http://purl.bioontology.org/ontology/MESH/D009084 Medical Subject Headings CUI
http://purl.obolibrary.org/obo/DOID_0111402 Human Disease Ontology 123 LOOM