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 7051 - 7075 of 7942 in total
Disease ID Disease Name ▼ Gene Symbol Gene ID Organism
DOID:13677
  • SAPHO syndrome
  • Aliases:
    • Synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome
Homo sapiens (human)
DOID:0111158
  • SADDAN
  • Aliases:
    • SADDAN dysplasia
    • severe achondroplasia with developmental delay and acanthosis nigricans
Homo sapiens (human)
DOID:1933
  • Rubinstein-Taybi syndrome
  • Aliases:
    • Broad Thumb-Hallux syndrome
    • Rubinstein syndrome
    • proximal chromosome 16p13.3 deletion syndrome
Homo sapiens (human)
DOID:2732
  • Rothmund-Thomson syndrome
  • Aliases:
    • Congenital poikiloderma
    • RTS
Homo sapiens (human)
DOID:0060254
  • Robinow syndrome
  • Aliases:
    • Robinow dwarfism
    • acral dysostosis with facial and genital abnormalities
    • fetal face syndrome
Homo sapiens (human)
DOID:5325
  • Roberts syndrome
  • Aliases:
    • LONG BONE DEFICIENCIES ASSOCIATED WITH CLEFT LIP-PALATE
    • RBS
    • Roberts-Sc Phocomelia Syndrome
    • SC phocomelia syndrome
Homo sapiens (human)
DOID:9063
  • Ritter's disease
  • Aliases:
    • Dermatitis exfoliativa neonatorum
    • Pemphigus neonatorum
    • Ritter disease
    • Scalded skin syndrome
    • Staphylococcal scalded skin syndrome
    • Toxic epidermal necrolysis, subcorneal type
Homo sapiens (human)
DOID:11589
  • Riley-Day syndrome
  • Aliases:
    • HSAN III
    • familial autonomic nervous dysfunction
    • familial dysautonomia
Homo sapiens (human)
DOID:1703
  • Richter's syndrome
  • Aliases:
    • Richter syndrome
Homo sapiens (human)
DOID:14525
  • Reye syndrome
  • Aliases:
    • Reye's syndrome
Homo sapiens (human)
DOID:1206
  • Rett syndrome
  • Aliases:
    • Rett's disorder
    • cerebroatrophic hyperammonemia
Homo sapiens (human)
DOID:1206
  • Rett syndrome
  • Aliases:
    • Rett's disorder
    • cerebroatrophic hyperammonemia
Mus musculus (house mouse)
DOID:0060179
  • Renpenning syndrome
  • Aliases:
    • Golabi-Ito-Hall syndrome
    • Sutherland-Haan X-linked mental retardation syndrome
    • X-linked intellectual disability due to PQBP1 mutations
    • X-linked intellectual disability, Renpenning type
    • X-linked mental retardation Renpenning type
    • X-linked mental retardation with spastic diplegia
    • syndromic X-linked mental retardation 8
Homo sapiens (human)
DOID:10582
  • Refsum disease
  • Aliases:
    • HMSN type IV
    • HSMN IV
    • Heredopathia atactica polyneuritiformis
    • Refsum's disease
    • adult Refsum disease
    • classic Refsum disease
    • phytanic acid oxidase deficiency
Homo sapiens (human)
DOID:10300
  • Raynaud disease
  • Aliases:
    • Raynaud's disease
    • Raynaud's syndrome
Homo sapiens (human)
DOID:0060330
  • Rapp-Hodgkin syndrome
  • Aliases:
    • RHS
    • anhidrotic ectodermal dysplasia with cleft lip/palate
    • ectodermal dysplasia syndrome, Rapp-Hodgkin type
    • ectodermal dysplasia, Rapp-Hodgkin type
Homo sapiens (human)
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Rattus norvegicus (Norway rat)
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Homo sapiens (human)
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Drosophila melanogaster (fruit fly)
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Mus musculus (house mouse)
DOID:0081097
  • Rafiq syndrome
  • Aliases:
    • MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Saccharomyces cerevisiae S288C
DOID:9091
  • REM sleep behavior disorder
  • Aliases:
    • REM sleep behaviour disorder
    • Rapid eye movement sleep behavior disorder
    • Rapid eye movement sleep behaviour disorder
Homo sapiens (human)
DOID:11100
  • Q fever
  • Aliases:
    • Infection due to Coxiella burnetii
Homo sapiens (human)
DOID:13482
  • Proteus syndrome
  • Aliases:
    • Wiedemann's syndrome
Mus musculus (house mouse)
DOID:13482
  • Proteus syndrome
  • Aliases:
    • Wiedemann's syndrome
Homo sapiens (human)

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Last updated: August 19, 2024