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Mannosidase Deficiency Diseases

Go to external page http://purl.bioontology.org/ontology/MESH/D044904

Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (MANNOSIDASES). The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme.

Term info

Label

Mannosidase Deficiency Diseases

Synonyms
  • Deficiency Disease, Mannosidase
  • Deficiency Diseases, Mannosidase
  • Deficiency Syndrome, Mannosidase
  • Deficiency Syndromes, Mannosidase
  • Diseases, Mannosidase Deficiency
  • Mannosidase Deficiency Disease
  • Mannosidase Deficiency Syndrome
  • Mannosidase Deficiency Syndromes
  • Mannosidasemangelkrankheiten (DE)
  • Mannosidose (DE)
  • Mannosidoses
  • Mannosidosis
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

D008361

HN

2004; use MANNOSIDOSIS, ALPHA B, LYSOSOMAL 1984-2003

MDA

20030709

MMR

20130708

MN

C18.452.648.202.607, C16.320.565.595.577, C18.452.648.595.577, C16.320.565.202.607

PM

2004; see MANNOSIDOSIS 1984-2003

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/Q000235, http://purl.bioontology.org/ontology/MESH/Q000378, http://purl.bioontology.org/ontology/MESH/Q000532, http://purl.bioontology.org/ontology/MESH/Q000652, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000451, http://purl.bioontology.org/ontology/MESH/Q000473, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000517, http://purl.bioontology.org/ontology/MESH/Q000382, http://purl.bioontology.org/ontology/MESH/Q000601, http://purl.bioontology.org/ontology/MESH/Q000821, http://purl.bioontology.org/ontology/MESH/Q000469, 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/Q000662, http://purl.bioontology.org/ontology/MESH/Q000145, http://purl.bioontology.org/ontology/MESH/Q000266, 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/D008361

SIB

http://purl.bioontology.org/ontology/MESH/D015217, http://purl.bioontology.org/ontology/MESH/D009100, http://purl.bioontology.org/ontology/MESH/D058631, http://purl.bioontology.org/ontology/MESH/D015323, http://purl.bioontology.org/ontology/MESH/D005693, http://purl.bioontology.org/ontology/MESH/D009081, http://purl.bioontology.org/ontology/MESH/D009083, http://purl.bioontology.org/ontology/MESH/D015318, http://purl.bioontology.org/ontology/MESH/D020140, http://purl.bioontology.org/ontology/MESH/D003554, http://purl.bioontology.org/ontology/MESH/D006960, http://purl.bioontology.org/ontology/MESH/D018981, http://purl.bioontology.org/ontology/MESH/D054880, http://purl.bioontology.org/ontology/MESH/D007787, http://purl.bioontology.org/ontology/MESH/D006008, http://purl.bioontology.org/ontology/MESH/D005645, http://purl.bioontology.org/ontology/MESH/D005955

TERMUI

T024887, T534623, T534622

TH

GHR (2014), NLM (2004), NLM (1985)

cui

C1257960

hasSTY

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

tui

T047