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beta-Mannosidosis

Go to external page http://purl.bioontology.org/ontology/MESH/D044905

An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests in the form of a variety of symptoms that depend upon the type of gene mutation.

Term info

Label

beta-Mannosidosis

Synonyms
  • Beta-Mannosidase-Defekt (DE)
  • Beta-Mannosidase-Mangel (DE)
  • Beta-Mannosidose (DE)
  • Lysosomal beta A Mannosidosis
  • Lysosomal beta Mannosidase Deficiency
  • Lysosomal beta-Mannosidase Deficiencies
  • Lysosomal beta-Mannosidase Deficiency
  • Mannosidosis, beta A, Lysosomal
  • beta Mannosidase Deficiency
  • beta Mannosidosis
  • beta-Mannosidase Deficiencies
  • beta-Mannosidase Deficiency
  • beta-Mannosidoses
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

20040101

FX

D044902

HN

2004

MDA

20030709

MMR

20160226

MN

C18.452.648.595.577.750, C18.452.648.202.607.750, C16.320.565.202.607.750, C16.320.565.595.577.750

PM

2004

QB

http://purl.bioontology.org/ontology/MESH/Q000175, http://purl.bioontology.org/ontology/MESH/Q000097, http://purl.bioontology.org/ontology/MESH/Q000196, http://purl.bioontology.org/ontology/MESH/Q000150, http://purl.bioontology.org/ontology/MESH/Q000191, http://purl.bioontology.org/ontology/MESH/Q000139, http://purl.bioontology.org/ontology/MESH/Q000534, http://purl.bioontology.org/ontology/MESH/Q000378, http://purl.bioontology.org/ontology/MESH/Q000532, http://purl.bioontology.org/ontology/MESH/Q000235, http://purl.bioontology.org/ontology/MESH/Q000652, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000451, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000473, http://purl.bioontology.org/ontology/MESH/Q000517, http://purl.bioontology.org/ontology/MESH/Q000382, http://purl.bioontology.org/ontology/MESH/Q000469, http://purl.bioontology.org/ontology/MESH/Q000821, http://purl.bioontology.org/ontology/MESH/Q000601, http://purl.bioontology.org/ontology/MESH/Q000523, http://purl.bioontology.org/ontology/MESH/Q000401, http://purl.bioontology.org/ontology/MESH/Q000201, http://purl.bioontology.org/ontology/MESH/Q000145, http://purl.bioontology.org/ontology/MESH/Q000266, http://purl.bioontology.org/ontology/MESH/Q000662, http://purl.bioontology.org/ontology/MESH/Q000188, http://purl.bioontology.org/ontology/MESH/Q000628, http://purl.bioontology.org/ontology/MESH/Q000209, http://purl.bioontology.org/ontology/MESH/Q000208, http://purl.bioontology.org/ontology/MESH/Q000503

RO

http://purl.bioontology.org/ontology/MESH/D044902

SIB

http://purl.bioontology.org/ontology/MESH/D008363

TERMUI

T534712, T534711, T534710, T000892545, T843577

TH

GHR (2014), ORD (2010), OMIM (2013), NLM (2004)

cui

C4048196

hasSTY

http://purl.bioontology.org/ontology/STY/T047

tui

T047

Term relations