MANNOSIDOSIS, ALPHA B, LYSOSOMAL

LYSOSOMAL ALPHA-D-MANNOSIDASE DEFICIENCY

http://purl.bioontology.org/ontology/OMIM/248500

LYSOSOMAL ALPHA-D-MANNOSIDASE DEFICIENCY

ALPHA-MANNOSIDOSIS

MANSA

ALPHA-MANNOSIDASE B DEFICIENCY

C0024748

19cen-q12

MANB

MAN2B1

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU003093

http://purl.bioontology.org/ontology/OMIM/MTHU011779

http://purl.bioontology.org/ontology/OMIM/MTHU000300

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

http://purl.bioontology.org/ontology/OMIM/MTHU011790

http://purl.bioontology.org/ontology/OMIM/MTHU000258

http://purl.bioontology.org/ontology/OMIM/MTHU011795

http://purl.bioontology.org/ontology/OMIM/MTHU011777

http://purl.bioontology.org/ontology/OMIM/MTHU000691

http://purl.bioontology.org/ontology/OMIM/MTHU011785

http://purl.bioontology.org/ontology/OMIM/MTHU001452

http://purl.bioontology.org/ontology/OMIM/MTHU036754

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

http://purl.bioontology.org/ontology/OMIM/MTHU011789

http://purl.bioontology.org/ontology/OMIM/MTHU002392

http://purl.bioontology.org/ontology/OMIM/MTHU011776

http://purl.bioontology.org/ontology/OMIM/MTHU037678

http://purl.bioontology.org/ontology/OMIM/MTHU011797

http://purl.bioontology.org/ontology/OMIM/MTHU011788

http://purl.bioontology.org/ontology/OMIM/MTHU001486

http://purl.bioontology.org/ontology/OMIM/MTHU002680

http://purl.bioontology.org/ontology/OMIM/MTHU002153

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

http://purl.bioontology.org/ontology/OMIM/MTHU001106

http://purl.bioontology.org/ontology/OMIM/MTHU000259

http://purl.bioontology.org/ontology/OMIM/MTHU011800

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

http://purl.bioontology.org/ontology/OMIM/MTHU004589

http://purl.bioontology.org/ontology/OMIM/MTHU001349

http://purl.bioontology.org/ontology/OMIM/MTHU011794

http://purl.bioontology.org/ontology/OMIM/MTHU000777

http://purl.bioontology.org/ontology/OMIM/MTHU011784

http://purl.bioontology.org/ontology/OMIM/MTHU011791

http://purl.bioontology.org/ontology/OMIM/MTHU011782

http://purl.bioontology.org/ontology/OMIM/MTHU008694

http://purl.bioontology.org/ontology/OMIM/MTHU009825

http://purl.bioontology.org/ontology/OMIM/MTHU011801

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

http://purl.bioontology.org/ontology/OMIM/MTHU011787

http://purl.bioontology.org/ontology/OMIM/MTHU053671

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

http://purl.bioontology.org/ontology/OMIM/MTHU011778

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

http://purl.bioontology.org/ontology/OMIM/MTHU011793

http://purl.bioontology.org/ontology/OMIM/MTHU011796

http://purl.bioontology.org/ontology/OMIM/MTHU011799

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

http://purl.bioontology.org/ontology/OMIM/MTHU001745

http://purl.bioontology.org/ontology/OMIM/MTHU000260

http://purl.bioontology.org/ontology/OMIM/MTHU011792

http://purl.bioontology.org/ontology/OMIM/MTHU036372

http://purl.bioontology.org/ontology/OMIM/MTHU011786

http://purl.bioontology.org/ontology/OMIM/MTHU000152

http://purl.bioontology.org/ontology/OMIM/MTHU011774

http://purl.bioontology.org/ontology/OMIM/MTHU000235

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

http://purl.bioontology.org/ontology/OMIM/MTHU000928

http://purl.bioontology.org/ontology/OMIM/MTHU011802

http://purl.bioontology.org/ontology/OMIM/MTHU011775

Phenotype description, molecular basis known.

248500

3

pound

MANNOSIDOSIS, ALPHA B, LYSOSOMAL

Some patients show onset later in childhood [MISCELLANEOUS]

Most patients show early childhood onset after a period of normal development [MISCELLANEOUS]

Caused by mutation in the alpha-mannosidase gene (MAN2B1, 609458.0001) [MOLECULAR BASIS]

Some patients show infantile onset [MISCELLANEOUS]

Neurologic symptoms are progressive [MISCELLANEOUS]

Wide phenotypic variability and severity [MISCELLANEOUS]

T047