Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

MUCOLIPIDOSIS III ALPHA/BETA
Synonyms

MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL
ID

http://purl.bioontology.org/ontology/OMIM/252600
altLabel

MUCOLIPIDOSIS III ALPHA/BETA, ATYPICAL

ML III ALPHA/BETA

MUCOLIPIDOSIS IIIA

ML IIIA

MUCOLIPIDOSIS III

PSEUDO-HURLER POLYDYSTROPHY

ML III
cui

C2673375

C0033788
Gene Locus

12q23.3
Gene Symbol

GNPTAB

GNPTA
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU011294

http://purl.bioontology.org/ontology/OMIM/MTHU011274

http://purl.bioontology.org/ontology/OMIM/MTHU011287

http://purl.bioontology.org/ontology/OMIM/MTHU011285

http://purl.bioontology.org/ontology/OMIM/MTHU011283

http://purl.bioontology.org/ontology/OMIM/MTHU011289

http://purl.bioontology.org/ontology/OMIM/MTHU003335

http://purl.bioontology.org/ontology/OMIM/MTHU037745

http://purl.bioontology.org/ontology/OMIM/MTHU011297

http://purl.bioontology.org/ontology/OMIM/MTHU011295

http://purl.bioontology.org/ontology/OMIM/MTHU001542

http://purl.bioontology.org/ontology/OMIM/MTHU011288

http://purl.bioontology.org/ontology/OMIM/MTHU009220

http://purl.bioontology.org/ontology/OMIM/MTHU011139

http://purl.bioontology.org/ontology/OMIM/MTHU011290

http://purl.bioontology.org/ontology/OMIM/MTHU011292

http://purl.bioontology.org/ontology/OMIM/MTHU007185

http://purl.bioontology.org/ontology/OMIM/MTHU011296

http://purl.bioontology.org/ontology/OMIM/MTHU011168

http://purl.bioontology.org/ontology/OMIM/MTHU003864

http://purl.bioontology.org/ontology/OMIM/MTHU000036

http://purl.bioontology.org/ontology/OMIM/MTHU011164

http://purl.bioontology.org/ontology/OMIM/MTHU011291

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

http://purl.bioontology.org/ontology/OMIM/MTHU011299

http://purl.bioontology.org/ontology/OMIM/MTHU011298

http://purl.bioontology.org/ontology/OMIM/MTHU011301

http://purl.bioontology.org/ontology/OMIM/MTHU011300

http://purl.bioontology.org/ontology/OMIM/MTHU011302

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU011284

http://purl.bioontology.org/ontology/OMIM/MTHU011293

http://purl.bioontology.org/ontology/OMIM/MTHU006372
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

252600
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MUCOLIPIDOSIS III ALPHA/BETA
Scope Statement

Allelic to mucolipidosis II (252500) [MISCELLANEOUS]

Symptoms noted at 2-3 years [MISCELLANEOUS]

Caused by mutation in the N-acetylglucosamine-1-phosphotransferase, alpha/beta subunits gene (GNPTAB, 607840.0001) [MOLECULAR BASIS]
tui

T047
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