MUCOLIPIDOSIS IV

SIALOLIPIDOSIS

http://purl.bioontology.org/ontology/OMIM/252650

SIALOLIPIDOSIS

ML IV

ML4

C0238286

19p13.3-p13.2

ML4

MCOLN1

http://purl.bioontology.org/ontology/OMIM/MTHU011260

http://purl.bioontology.org/ontology/OMIM/MTHU000474

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU011262

http://purl.bioontology.org/ontology/OMIM/MTHU036378

http://purl.bioontology.org/ontology/OMIM/MTHU011265

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

http://purl.bioontology.org/ontology/OMIM/MTHU011257

http://purl.bioontology.org/ontology/OMIM/MTHU011269

http://purl.bioontology.org/ontology/OMIM/MTHU004893

http://purl.bioontology.org/ontology/OMIM/MTHU037749

http://purl.bioontology.org/ontology/OMIM/MTHU001237

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU011267

http://purl.bioontology.org/ontology/OMIM/MTHU011256

http://purl.bioontology.org/ontology/OMIM/MTHU001353

http://purl.bioontology.org/ontology/OMIM/MTHU011271

http://purl.bioontology.org/ontology/OMIM/MTHU036384

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

http://purl.bioontology.org/ontology/OMIM/MTHU011259

http://purl.bioontology.org/ontology/OMIM/MTHU011266

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

http://purl.bioontology.org/ontology/OMIM/MTHU011261

http://purl.bioontology.org/ontology/OMIM/MTHU011264

http://purl.bioontology.org/ontology/OMIM/MTHU011268

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU011270

http://purl.bioontology.org/ontology/OMIM/MTHU011258

Phenotype description, molecular basis known.

252650

3

pound

MUCOLIPIDOSIS IV

Onset in first year of life [MISCELLANEOUS]

Caused by mutations in the mucolipin-1 gene (MCOLN1, 605248.0001) [MOLECULAR BASIS]

Increased frequency in Ashkenazi Jewish population (1/100 are carriers) [MISCELLANEOUS]

T047