GlyCosmos Diseases

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

Source Last Updated
Alliance of Genome Resources July 29, 2024
DisGeNET July 29, 2024
Glyco-Disease Genes Database (GDGDB) January 25, 2017
Displaying entries 3976 - 4000 of 4621 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism
DOID:0060875
  • isolated growth hormone deficiency type III
  • Aliases:
    • Fleisher syndrome
    • IGHD III
    • X-linked IGHD
    • X-linked agammaglobulinemia and isolated growth hormone deficiency
    • X-linked hypogammaglobulinemia and isolated growth hormone deficiency
    • X-linked isolated growth hormone deficiency
    • congenital IGHD type III
    • congenital isolated GH deficiency type III
    • congenital isolated growth hormone deficiency type III
    • growth hormone deficiency with hypogammaglobulinemia
Homo sapiens (human)
DOID:0060874
  • isolated growth hormone deficiency type IB
  • Aliases:
    • IGHD IB
    • congenital IGHD type IB
    • congenital isolated GH deficiency type IB
    • congenital isolated growth hormone deficiency type IB
    • dwarfism of Sindh
Homo sapiens (human)
DOID:0060873
  • isolated growth hormone deficiency type IA
  • Aliases:
    • IGHD IA
    • Illig-type growth hormone deficiency
    • autosomal recessive isolated growth hormone deficiency
    • pituitary dwarfism I
    • primordial dwarfism
    • sexual ateleiotic dwarfism
Homo sapiens (human)
DOID:0060872
  • isolated growth hormone deficiency type II
  • Aliases:
    • IGHD II
    • autosomal dominant isolated growth hormone deficiency
    • autosomal dominant pituitary dwarfism due to isolated growth hormone deficiency
    • congenital IGHD type II
    • congenital isolated GH deficiency type II
    • congenital isolated growth hormone deficiency type II
Homo sapiens (human)
DOID:0060870
  • isolated growth hormone deficiency
  • Aliases:
    • IGHD
    • congenital IGHD
    • congenital isolated GH deficiency
    • congenital isolated growth hormone deficiency
    • familial isolated growth hormone deficiency
    • non-acquired isolated growth hormone deficiency
Homo sapiens (human)
DOID:0060869
  • late-onset retinal degeneration
  • Aliases:
    • LORD
    • autosomal dominant late-onset retinal degeneration
Homo sapiens (human)
DOID:0060868
  • leukoencephalopathy with vanishing white matter
  • Aliases:
    • CACH
    • CACH/VWM
    • childhood ataxia with central nervous system hypomyelination
    • vanishing white matter leukodystrophy
Homo sapiens (human)
DOID:0060867
  • macrocephaly-autism syndrome
  • Aliases:
    • macrocephaly-intellectual disability-autism syndrome
Homo sapiens (human)
DOID:0060862
  • mal de Meleda
  • Aliases:
    • Meleda disease
    • keratosis palmoplantaris transgrediens of Siemens
    • transgrediens palmoplantar keratoderma of Siemens
Homo sapiens (human)
DOID:0060861
  • microphthalmia with limb anomalies
  • Aliases:
    • MLA
    • OAS
    • Waardenburg anophthalmia syndrome
    • anophthalmia-syndactyly syndrome
    • ophthalmoacromelic syndrome
Homo sapiens (human)
DOID:0060858
  • hypotonia-cystinuria syndrome
  • Aliases:
    • cystinuria with mitochondrial disease
Homo sapiens (human)
DOID:0060857
  • septooptic dysplasia
  • Aliases:
    • De Morsier syndrome
    • SOD
    • septo-optic dysplasia
Homo sapiens (human)
DOID:0060856
  • right atrial isomerism
  • Aliases:
    • Ivemark syndrome
    • asplenia with cardiovascular anomalies
Homo sapiens (human)
DOID:0060855
  • autosomal dominant pseudohypoaldosteronism type 1
  • Aliases:
    • PHA1A
    • autosomal dominant PHA 1
Homo sapiens (human)
DOID:0060854
  • autosomal recessive pseudohypoaldosteronism type 1
  • Aliases:
    • PHA1B
    • autosomal recessive PHA 1
Homo sapiens (human)
DOID:0060851
  • pemphigus vulgaris
  • Aliases:
    • familial pemphigus vulgaris
Homo sapiens (human)
DOID:0060849
  • osteoporosis-pseudoglioma syndrome
  • Aliases:
    • OPPG
    • ocular form of osteogenesis imperfecta
Homo sapiens (human)
DOID:0060847
  • Leri-Weill dyschondrosteosis
Homo sapiens (human)
DOID:0060844
  • Norrie disease
  • Aliases:
    • Episkopi blindness
    • Norrie-Warburg disease
    • atrophia bulborum hereditaria
Homo sapiens (human)
DOID:0060843
  • hereditary neuropathy with liability to pressure palsies
  • Aliases:
    • HNPP
    • current pressure-sensitive neuropathy
    • familial recurrent polyneuropathy
    • heterozygous microdeletion 17p11.2p12
    • potato-grubbing palsy
    • tomaculous neuropathy
    • tulip-bulb digger's palsy
Homo sapiens (human)
DOID:0060842
  • isolated microphthalmia 3
  • Aliases:
    • MCOP3
Homo sapiens (human)
DOID:0060841
  • isolated microphthalmia 8
  • Aliases:
    • MCOP8
Homo sapiens (human)
DOID:0060840
  • isolated microphthalmia 1
  • Aliases:
    • MCOP1
Homo sapiens (human)
DOID:0060839
  • isolated microphthalmia 2
  • Aliases:
    • MCOP2
Homo sapiens (human)
DOID:0060838
  • isolated microphthalmia 7
  • Aliases:
    • MCOP7
Homo sapiens (human)

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Last updated: August 19, 2024