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 11551 - 11575 of 15957 in total
Disease ID Disease Name Gene Symbol Gene ID Organism ▲ Source
DOID:0111935
  • immunodeficiency 16
  • Aliases:
    • IMD16
    • OX40 deficiency
    • combined immunodeficiency due to OX40 deficiency
    • combined immunodeficiency with childhood-onset Kaposi sarcoma
    • combined immunodeficiency with impaired immunity to HHV-8
    • combined immunodeficiency with impaired immunity to human herpes virus 8
Mus musculus (house mouse)
DOID:0050790
  • fibular hypoplasia and complex brachydactyly
  • Aliases:
    • Du Pan syndrome
    • acromesomelic dysplasia-2B
Mus musculus (house mouse)
DOID:0111564
  • hypoplastic or aplastic tibia with polydactyly
  • Aliases:
    • Werner mesomelic syndrome
    • absence of tibia with polydactyly
    • absent tibia-polydactyly syndrome
    • hypoplastic tibiae-postaxial polydactyly syndrome
    • tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Mus musculus (house mouse)
DOID:0111506
  • palmoplantar keratoderma-esophageal carcinoma syndrome
  • Aliases:
    • Bennion-Patterson syndrome
    • Howell-Evans syndrome
    • TOC
    • keratosis palmaris et plantaris with esophageal cancer
    • keratosis palmoplantaris-esophageal carcinoma syndrome
    • palmoplantar hyperkeratosis-esophageal carcinoma syndrome
    • palmoplantar keratoderma with esophageal cancer
    • tylosis with esophageal cancer
    • tylosis-oesophageal carcinoma syndrome
Mus musculus (house mouse)
DOID:0110993
  • Joubert syndrome 24
  • Aliases:
    • JBTS24
Mus musculus (house mouse)
DOID:0110063
  • amelogenesis imperfecta hypomaturation type 2A5
  • Aliases:
    • AI2A5
    • amelogenesis imperfecta hypomaturation type IIA5
    • amelogenesis imperfecta type IIA5
Mus musculus (house mouse)
DOID:0080380
  • nephrotic syndrome type 5
  • Aliases:
    • nephrotic syndrome type 5, with or without ocular abnormalities
Mus musculus (house mouse)
DOID:8488
  • polyhydramnios
Mus musculus (house mouse)
DOID:0111799
  • syndromic microphthalmia 1
  • Aliases:
    • Lenz dysplasia
    • Lenz microphthalmia
    • Lenz type microphthalmia
    • MCOPS1
Mus musculus (house mouse)
DOID:0111994
  • immunodeficiency 45
  • Aliases:
    • IMD45
Mus musculus (house mouse)
DOID:0070134
  • autosomal recessive cutis laxa type IIA
  • Aliases:
    • ARCL2A
Mus musculus (house mouse)
DOID:3192
  • neurilemmoma
  • Aliases:
    • Psammomatous schwannoma
    • schwannoma
Mus musculus (house mouse)
DOID:0110445
  • dilated cardiomyopathy 1KK
  • Aliases:
    • CMD1KK
Mus musculus (house mouse)
DOID:0110293
  • autosomal recessive limb-girdle muscular dystrophy type 2P
  • Aliases:
    • LGMD2P
    • MDDGC9
    • muscular dystrophy-dystroglycanopathy (limb-girdle) type C9
    • muscular dystrophy-dystroglycanopathy limb-girdle DAG1-related
Mus musculus (house mouse)
DOID:11162
  • respiratory failure
  • Aliases:
    • acute and chronic respiratory failure
    • acute respiratory Failure
    • acute-on-chronic respiratory failure
    • chronic respiratory failure
    • respiratory insufficiency/failure
Mus musculus (house mouse)
DOID:0080559
  • congenital disorder of glycosylation Ig
  • Aliases:
    • ALG12-congenital disorder of glycosylation
    • congenital disorder of glycosylation 1g
Mus musculus (house mouse)
DOID:5151
  • plexiform neurofibroma
Mus musculus (house mouse)
DOID:9775
  • diastolic heart failure
Mus musculus (house mouse)
DOID:0060286
  • combined oxidative phosphorylation deficiency
Mus musculus (house mouse)
DOID:6652
  • diffuse idiopathic skeletal hyperostosis
  • Aliases:
    • Ankylosing vertebral hyperostosis
    • DISH
    • Disseminated idiopathic skeletal hyperostosis
Mus musculus (house mouse)
DOID:0110937
  • autosomal dominant osteopetrosis 1
  • Aliases:
    • OPTA1
    • autosomal dominant osteopetrosis type 1
Mus musculus (house mouse)
DOID:529
  • blepharospasm
Mus musculus (house mouse)
DOID:0050436
  • mulibrey nanism
  • Aliases:
    • MUL
    • Mulibrey growth disorder
    • Muscle-Liver-Brain-Eye Nanism
    • PERICARDIAL CONSTRICTION AND GROWTH FAILURE
    • Perheentupa Syndrome
Mus musculus (house mouse)
DOID:2752
  • glycogen storage disease II
  • Aliases:
    • Generalized glycogenosis
    • Glycogen storage disease 2
    • Glycogen storage disease, type II
    • Glycogenosis, type 2
    • Lysosomal alpha-1,4-glucosidase deficiency
    • Pompe's disease
    • acid maltase deficiency
    • deficiency of glucoamylase
    • deficiency of maltase
    • glycogen storage disease type II
Mus musculus (house mouse)
DOID:2043
  • hepatitis B
  • Aliases:
    • chronic hepatitis B
    • hepatitis B infection
Mus musculus (house mouse)

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Last updated: December 9, 2024