Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

MUCOPOLYSACCHARIDOSIS, TYPE IIIA
Synonyms

SULFAMIDASE DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/252900
altLabel

SULFAMIDASE DEFICIENCY

MPS3A

HEPARAN SULFATE SULFATASE DEFICIENCY

MPS IIIA

SANFILIPPO SYNDROME A
cui

C0086647
Gene Locus

17q25.3
Gene Symbol

MPS3A

SGSH

SFMD
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU028277

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

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

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

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/MTHU011225

http://purl.bioontology.org/ontology/OMIM/MTHU011228

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU011241

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

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

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU011214

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

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

http://purl.bioontology.org/ontology/OMIM/MTHU011226

http://purl.bioontology.org/ontology/OMIM/MTHU011224

http://purl.bioontology.org/ontology/OMIM/MTHU011239

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

http://purl.bioontology.org/ontology/OMIM/MTHU011227

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

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

Phenotype description, molecular basis known.
notation

252900
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MUCOPOLYSACCHARIDOSIS, TYPE IIIA
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://purl.obolibrary.org/obo/DOID_0111395 Human Disease Ontology 123 LOOM
http://purl.bioontology.org/ontology/MESH/D009084 Medical Subject Headings CUI
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84897 National Cancer Institute Thesaurus LOOM