MUCOLIPIDOSIS II ALPHA/BETA

I-CELL DISEASE

http://purl.bioontology.org/ontology/OMIM/252500

I-CELL DISEASE

ICD

ML II

MUCOLIPIDOSIS II

ML II ALPHA/BETA

C2673377

C0020725

12q23.3

GNPTA

GNPTAB

http://purl.bioontology.org/ontology/OMIM/MTHU011323

http://purl.bioontology.org/ontology/OMIM/MTHU011329

http://purl.bioontology.org/ontology/OMIM/MTHU011311

http://purl.bioontology.org/ontology/OMIM/MTHU011317

http://purl.bioontology.org/ontology/OMIM/MTHU011315

http://purl.bioontology.org/ontology/OMIM/MTHU011313

http://purl.bioontology.org/ontology/OMIM/MTHU011339

http://purl.bioontology.org/ontology/OMIM/MTHU008519

http://purl.bioontology.org/ontology/OMIM/MTHU011325

http://purl.bioontology.org/ontology/OMIM/MTHU011333

http://purl.bioontology.org/ontology/OMIM/MTHU011327

http://purl.bioontology.org/ontology/OMIM/MTHU022644

http://purl.bioontology.org/ontology/OMIM/MTHU036522

http://purl.bioontology.org/ontology/OMIM/MTHU000575

http://purl.bioontology.org/ontology/OMIM/MTHU011345

http://purl.bioontology.org/ontology/OMIM/MTHU011343

http://purl.bioontology.org/ontology/OMIM/MTHU011349

http://purl.bioontology.org/ontology/OMIM/MTHU011337

http://purl.bioontology.org/ontology/OMIM/MTHU011341

http://purl.bioontology.org/ontology/OMIM/MTHU011331

http://purl.bioontology.org/ontology/OMIM/MTHU011335

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

http://purl.bioontology.org/ontology/OMIM/MTHU001355

http://purl.bioontology.org/ontology/OMIM/MTHU005753

http://purl.bioontology.org/ontology/OMIM/MTHU007930

http://purl.bioontology.org/ontology/OMIM/MTHU011347

http://purl.bioontology.org/ontology/OMIM/MTHU011319

http://purl.bioontology.org/ontology/OMIM/MTHU011304

http://purl.bioontology.org/ontology/OMIM/MTHU011309

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

http://purl.bioontology.org/ontology/OMIM/MTHU001153

http://purl.bioontology.org/ontology/OMIM/MTHU011314

http://purl.bioontology.org/ontology/OMIM/MTHU002014

http://purl.bioontology.org/ontology/OMIM/MTHU002002

http://purl.bioontology.org/ontology/OMIM/MTHU011306

http://purl.bioontology.org/ontology/OMIM/MTHU002079

http://purl.bioontology.org/ontology/OMIM/MTHU036440

http://purl.bioontology.org/ontology/OMIM/MTHU036367

http://purl.bioontology.org/ontology/OMIM/MTHU011326

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

http://purl.bioontology.org/ontology/OMIM/MTHU011320

http://purl.bioontology.org/ontology/OMIM/MTHU011324

http://purl.bioontology.org/ontology/OMIM/MTHU011312

http://purl.bioontology.org/ontology/OMIM/MTHU011318

http://purl.bioontology.org/ontology/OMIM/MTHU002156

http://purl.bioontology.org/ontology/OMIM/MTHU011310

http://purl.bioontology.org/ontology/OMIM/MTHU011316

http://purl.bioontology.org/ontology/OMIM/MTHU011348

http://purl.bioontology.org/ontology/OMIM/MTHU005441

http://purl.bioontology.org/ontology/OMIM/MTHU011336

http://purl.bioontology.org/ontology/OMIM/MTHU000564

http://purl.bioontology.org/ontology/OMIM/MTHU011334

http://purl.bioontology.org/ontology/OMIM/MTHU011332

http://purl.bioontology.org/ontology/OMIM/MTHU011338

http://purl.bioontology.org/ontology/OMIM/MTHU011328

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU011330

http://purl.bioontology.org/ontology/OMIM/MTHU036393

http://purl.bioontology.org/ontology/OMIM/MTHU006863

http://purl.bioontology.org/ontology/OMIM/MTHU011340

http://purl.bioontology.org/ontology/OMIM/MTHU011346

http://purl.bioontology.org/ontology/OMIM/MTHU011350

http://purl.bioontology.org/ontology/OMIM/MTHU058418

http://purl.bioontology.org/ontology/OMIM/MTHU011344

http://purl.bioontology.org/ontology/OMIM/MTHU011342

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU005544

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

http://purl.bioontology.org/ontology/OMIM/MTHU000744

http://purl.bioontology.org/ontology/OMIM/MTHU011305

http://purl.bioontology.org/ontology/OMIM/MTHU000094

http://purl.bioontology.org/ontology/OMIM/MTHU011308

http://purl.bioontology.org/ontology/OMIM/MTHU000268

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

http://purl.bioontology.org/ontology/OMIM/MTHU011307

http://purl.bioontology.org/ontology/OMIM/MTHU036366

http://purl.bioontology.org/ontology/OMIM/MTHU036364

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

Phenotype description, molecular basis known.

252500

3

pound

MUCOLIPIDOSIS II ALPHA/BETA

Death in childhood [MISCELLANEOUS]

Carrier rate of 1 in 39 in the Saguenay-Lac-Saint-Jean region of Quebec [MISCELLANEOUS]

Caused by mutation in the N-acetylglucosamine-1-phosphotransferase, alpha/beta subunits gene (GNPTAB, 607840.0003) [MOLECULAR BASIS]

Death often secondary to pneumonia or congestive heart failure [MISCELLANEOUS]

T047