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Lysosomal Storage Diseases

Go to external page http://purl.bioontology.org/ontology/MESH/D016464

Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.

Term info

Label

Lysosomal Storage Diseases

Synonyms
  • Disease, Lysosomal Storage
  • Diseases, Lysosomal Storage
  • Disorder, Lysosomal Enzyme
  • Disorders, Lysosomal Enzyme
  • Enzyme Disorder, Lysosomal
  • Enzyme Disorders, Lysosomal
  • Lysosomal Enzyme Disorder
  • Lysosomal Enzyme Disorders
  • Lysosomal Storage Disease
  • Lysosomale Enzymstörungen (DE)
  • Lysosomale Speicherkrankheiten (DE)
AN

an inborn error of metab; do not use /congen & do not coord with INFANT, NEWBORN, DISEASES

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

19920101

HN

92

MDA

19910102

MMR

20060705

MN

C18.452.648.595, C16.320.565.595

PM

92

QB

http://purl.bioontology.org/ontology/MESH/Q000097, http://purl.bioontology.org/ontology/MESH/Q000175, 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/Q000134, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000473, http://purl.bioontology.org/ontology/MESH/Q000451, http://purl.bioontology.org/ontology/MESH/Q000517, http://purl.bioontology.org/ontology/MESH/Q000382, http://purl.bioontology.org/ontology/MESH/Q000821, http://purl.bioontology.org/ontology/MESH/Q000469, 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

SIB

http://purl.bioontology.org/ontology/MESH/D020739, http://purl.bioontology.org/ontology/MESH/D008052, http://purl.bioontology.org/ontology/MESH/D018901, http://purl.bioontology.org/ontology/MESH/D011686, http://purl.bioontology.org/ontology/MESH/D011371, http://purl.bioontology.org/ontology/MESH/D015499, http://purl.bioontology.org/ontology/MESH/D008664, http://purl.bioontology.org/ontology/MESH/D043202, http://purl.bioontology.org/ontology/MESH/D030401, http://purl.bioontology.org/ontology/MESH/D028226, http://purl.bioontology.org/ontology/MESH/D000592, http://purl.bioontology.org/ontology/MESH/D020157, http://purl.bioontology.org/ontology/MESH/D006933, http://purl.bioontology.org/ontology/MESH/D002239

TERMUI

T049277, T049276

TH

NLM (1992)

cui

C0085078

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C538648, http://purl.bioontology.org/ontology/MESH/C536522, http://purl.bioontology.org/ontology/MESH/C536411, http://purl.bioontology.org/ontology/MESH/C536631, http://purl.bioontology.org/ontology/MESH/C564422

tui

T047

Term relations