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Congenital Disorders of Glycosylation

Go to external page http://purl.bioontology.org/ontology/MESH/D018981

A genetically heterogeneous group of heritable disorders resulting from defects in protein N-glycosylation.

Instance info

Synonyms

Carbohydrate Deficient Glycoprotein Syndrome, Carbohydrate-Deficient Glycoprotein Syndrome, Syndromes, Carbohydrate-Deficient Glycoprotein, Glykoproteinsyndrom, kohlenhydratdefizientes (DE), Carbohydrate-Deficient Glycoprotein Syndromes, Syndrome, Carbohydrate-Deficient Glycoprotein, Glycoprotein Syndrome, Carbohydrate-Deficient, Kohlenhydratdefizientes Glykoproteinsyndrom (DE)

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

19960101

HN

2011(1996)

MDA

19950524

MMR

20100625

MN

C18.452.648.202.125,C16.320.565.202.125

PM

2011; CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME (1996-2010)

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/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/Q000178,http://purl.bioontology.org/ontology/MESH/Q000453,http://purl.bioontology.org/ontology/MESH/Q000134,http://purl.bioontology.org/ontology/MESH/Q000276,http://purl.bioontology.org/ontology/MESH/Q000473,http://purl.bioontology.org/ontology/MESH/Q000000981,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/Q000601,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/Q000145,http://purl.bioontology.org/ontology/MESH/Q000662,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

SIB

http://purl.bioontology.org/ontology/MESH/D044904,http://purl.bioontology.org/ontology/MESH/D009100,http://purl.bioontology.org/ontology/MESH/D015323,http://purl.bioontology.org/ontology/MESH/D005693,http://purl.bioontology.org/ontology/MESH/D006960,http://purl.bioontology.org/ontology/MESH/D009081,http://purl.bioontology.org/ontology/MESH/D007787,http://purl.bioontology.org/ontology/MESH/D005645,http://purl.bioontology.org/ontology/MESH/D006008,http://purl.bioontology.org/ontology/MESH/D005955,http://purl.bioontology.org/ontology/MESH/D015318,http://purl.bioontology.org/ontology/MESH/D009083

TERMUI

T762079,T056593,T056594

TH

ORD (2010),NLM (2011),NLM (1996)

cui

C0282577

hasSTY

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

mapped from

http://purl.bioontology.org/ontology/MESH/C535746,http://purl.bioontology.org/ontology/MESH/C535747,http://purl.bioontology.org/ontology/MESH/C535748,http://purl.bioontology.org/ontology/MESH/C535749,http://purl.bioontology.org/ontology/MESH/C562844,http://purl.bioontology.org/ontology/MESH/C535742,http://purl.bioontology.org/ontology/MESH/C535743,http://purl.bioontology.org/ontology/MESH/C535744,http://purl.bioontology.org/ontology/MESH/C564625,http://purl.bioontology.org/ontology/MESH/C535745,http://purl.bioontology.org/ontology/MESH/C567857,http://purl.bioontology.org/ontology/MESH/C566987,http://purl.bioontology.org/ontology/MESH/C567437,http://purl.bioontology.org/ontology/MESH/C000623088,http://purl.bioontology.org/ontology/MESH/C565264,http://purl.bioontology.org/ontology/MESH/C567040,http://purl.bioontology.org/ontology/MESH/C535750,http://purl.bioontology.org/ontology/MESH/C535751,http://purl.bioontology.org/ontology/MESH/C535752,http://purl.bioontology.org/ontology/MESH/C535753,http://purl.bioontology.org/ontology/MESH/C535754,http://purl.bioontology.org/ontology/MESH/C535755,http://purl.bioontology.org/ontology/MESH/C535756,http://purl.bioontology.org/ontology/MESH/C567328,http://purl.bioontology.org/ontology/MESH/C000626124,http://purl.bioontology.org/ontology/MESH/C563666,http://purl.bioontology.org/ontology/MESH/C535739,http://purl.bioontology.org/ontology/MESH/C535740,http://purl.bioontology.org/ontology/MESH/C535741

tui

T047

Instance relations

Types