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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source Last Updated
Alliance of Genome Resources October 9, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 9526 - 9550 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▼ Source
DOID:0060398
  • chromosome 16p11.2 deletion syndrome, 220-kb
  • Aliases:
    • distal 16p11.2 microdeletion syndrome
Homo sapiens (human)
DOID:0110605
  • primary ciliary dyskinesia 7
  • Aliases:
    • CILD7
    • primary ciliary dyskinesia 7 with or without situs inversus
Homo sapiens (human)
DOID:3314
  • angiomyolipoma
Homo sapiens (human)
DOID:11396
  • pulmonary edema
Homo sapiens (human)
DOID:0060260
  • ptosis
  • Aliases:
    • blepharoptosis
    • drooping eyelid
Homo sapiens (human)
DOID:14176
  • selective IgG deficiency disease
  • Aliases:
    • Immunoglobin G subclass deficiency
    • Selective IgG Immunodeficiency
    • Selective Immunoglobulin G Subclass deficiency
    • Selective deficiency of IgG
    • Selective immunoglobulin G deficiency
Homo sapiens (human)
DOID:9498
  • pulmonary eosinophilia
Homo sapiens (human)
DOID:0050717
  • methylmalonic aciduria and homocystinuria type cblF
  • Aliases:
    • Cobalamin F deficiency
    • MAHCF
Homo sapiens (human)
DOID:0111247
  • hypertension and brachydactyly syndrome
  • Aliases:
    • Bilginturan brachydactyly
    • Bilginturan syndrome
    • HTNB
    • brachydactyly with hypertension
    • type E brachydactyly with short stature and hypertension
Homo sapiens (human)
DOID:0081236
  • autosomal recessive intellectual developmental disorder 77
Homo sapiens (human)
DOID:0110939
  • autosomal recessive osteopetrosis 5
  • Aliases:
    • OPTB5
    • infantile malignant osteopetrosis 3
Homo sapiens (human)
DOID:0060062
  • familial juvenile hyperuricemic nephropathy
Homo sapiens (human)
DOID:0080394
  • nephrotic syndrome type 19
Homo sapiens (human)
DOID:0110278
  • autosomal recessive limb-girdle muscular dystrophy type 2D
  • Aliases:
    • Alpha-sarcoglycanopathy
    • DMDA2
    • Duchenne-like autosomal recessive muscular dystrophy type 2
    • LGMD2D
    • muscular dystrophy, limb-girdle, type 2D
    • primary adhalinopathy
Homo sapiens (human)
DOID:0111138
  • congenital generalized lipodystrophy type 4
  • Aliases:
    • Berardinelli-Seip congenital lipodystrophy type 4 with muscular dystrophy
    • congenital generalised lipodystrophy type 4
    • generalised congenital lipodystrophy type 4
    • generalised congenital lipodystrophy with myopathy
    • generalized congenital lipodystrophy type 4
    • generalized congenital lipodystrophy with myopathy
Homo sapiens (human)
DOID:0060036
  • intrinsic cardiomyopathy
Homo sapiens (human)
DOID:9470
  • bacterial meningitis
Homo sapiens (human)
DOID:14735
  • hereditary angioedema
  • Aliases:
    • HANE
    • Hereditary angioneurotic edema
Homo sapiens (human)
DOID:0080072
  • intestinal pseudo-obstruction
  • Aliases:
    • Chronic intestinal pseudo-obstruction
    • neuronal intestinal dysplasia
Homo sapiens (human)
DOID:0081219
  • autosomal recessive intellectual developmental disorder 57
Homo sapiens (human)
DOID:0111337
  • Jackson-Weiss syndrome
  • Aliases:
    • JWS
    • craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome
Homo sapiens (human)
DOID:0111151
  • Prinzmetal angina
  • Aliases:
    • Prinzmetal's angina
    • Prinzmetal's variant angina
    • angina inversa
    • variant angina
    • variant angina pectoris
Homo sapiens (human)
DOID:4481
  • allergic rhinitis
  • Aliases:
    • Non-seasonal allergic rhinitis
    • Perenial allergic rhinitis
    • atopic rhinitis
    • hay fever
    • pollenosis
    • seasonal allergic rhinitis
Homo sapiens (human)
DOID:0060799
  • syndromic X-linked intellectual disability Lubs type
  • Aliases:
    • Lubs X-linked mental retardation syndrome
    • MECP2 duplication syndrome
    • MRXSL
    • X-linked intellectual disability-hypotonia-recurrent Infections syndrome
    • mental retardation, X-linked, syndromic, Lubs type
    • mental retardation, X-linked, with recurrent respiratory infections
Homo sapiens (human)
DOID:2746
  • glycogen storage disease V
  • Aliases:
    • Glycogen storage disease 5
    • Glycogen storage disease, type V
    • McArdle's disease
    • glycogen storage disease type V
    • myophosphorylase deficiency
Homo sapiens (human)
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Last updated: December 9, 2024