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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 8651 - 8675 of 15957 in total
Disease ID ▼ Disease Name Gene Symbol Gene ID Organism Source
DOID:0111278
  • histiocytosis-lymphadenopathy plus syndrome
  • Aliases:
    • Faisalabad histiocytosis
    • H syndrome
    • HJCD
    • PHID
    • Rosai–Dorfman disease
    • SHML
    • cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss
    • familial Rosai-Dorfman disease
    • histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness
    • histiocytosis with joint contractures and sensorineural deafness
    • pigmented hypertrichosis with insulin-dependent diabetes mellitus
    • sinus histiocytosis and massive lymphadenopathy
Homo sapiens (human)
DOID:0111278
  • histiocytosis-lymphadenopathy plus syndrome
  • Aliases:
    • Faisalabad histiocytosis
    • H syndrome
    • HJCD
    • PHID
    • Rosai–Dorfman disease
    • SHML
    • cutaneous hyperpigmentation with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss
    • familial Rosai-Dorfman disease
    • histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures and/or deafness
    • histiocytosis with joint contractures and sensorineural deafness
    • pigmented hypertrichosis with insulin-dependent diabetes mellitus
    • sinus histiocytosis and massive lymphadenopathy
Rattus norvegicus (Norway rat)
DOID:0111277
  • mitochondrial trifunctional protein deficiency
  • Aliases:
    • MTPD
    • TFP deficiency
    • TFPD
Rattus norvegicus (Norway rat)
DOID:0111277
  • mitochondrial trifunctional protein deficiency
  • Aliases:
    • MTPD
    • TFP deficiency
    • TFPD
Homo sapiens (human)
DOID:0111277
  • mitochondrial trifunctional protein deficiency
  • Aliases:
    • MTPD
    • TFP deficiency
    • TFPD
Mus musculus (house mouse)
DOID:0111275
  • speech-language disorder-1
  • Aliases:
    • CAS
    • articulatory apraxia
    • childhood apraxia of speech
    • developmental apraxia of speech
    • developmental verbal dyspraxia
    • speech and language disorder with orofacial dyspraxia
    • speech-language disorder type 1
Homo sapiens (human)
DOID:0111274
  • CODAS syndrome
  • Aliases:
    • cerebral, ocular, dental, auricular, and skeletal syndrome
    • cerebro-oculo-dento-auriculo-skeletal syndrome
Homo sapiens (human)
DOID:0111274
  • CODAS syndrome
  • Aliases:
    • cerebral, ocular, dental, auricular, and skeletal syndrome
    • cerebro-oculo-dento-auriculo-skeletal syndrome
Mus musculus (house mouse)
DOID:0111272
  • occipital horn syndrome
  • Aliases:
    • EDS IX
    • Ehlers-Danlos syndrome type 9
    • Ehlers-Danlos syndrome type IX
    • X-linked cutis laxa
Rattus norvegicus (Norway rat)
DOID:0111272
  • occipital horn syndrome
  • Aliases:
    • EDS IX
    • Ehlers-Danlos syndrome type 9
    • Ehlers-Danlos syndrome type IX
    • X-linked cutis laxa
Mus musculus (house mouse)
DOID:0111272
  • occipital horn syndrome
  • Aliases:
    • EDS IX
    • Ehlers-Danlos syndrome type 9
    • Ehlers-Danlos syndrome type IX
    • X-linked cutis laxa
Homo sapiens (human)
DOID:0111271
  • Oliver-McFarlane syndrome
  • Aliases:
    • OMCS
    • eyelashes long mental retardation
    • long eyelashes-intellectual disability syndrome
    • trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Saccharomyces cerevisiae S288C
DOID:0111271
  • Oliver-McFarlane syndrome
  • Aliases:
    • OMCS
    • eyelashes long mental retardation
    • long eyelashes-intellectual disability syndrome
    • trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Mus musculus (house mouse)
DOID:0111271
  • Oliver-McFarlane syndrome
  • Aliases:
    • OMCS
    • eyelashes long mental retardation
    • long eyelashes-intellectual disability syndrome
    • trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Homo sapiens (human)
DOID:0111269
  • autosomal dominant hyaline body myopathy
  • Aliases:
    • MSMA
    • Myopathy, myosin storage, autosomal dominant
    • congenital myopathy 7A
    • myopathy with lysis of type I myofibrils
Homo sapiens (human)
DOID:0111269
  • autosomal dominant hyaline body myopathy
  • Aliases:
    • MSMA
    • Myopathy, myosin storage, autosomal dominant
    • congenital myopathy 7A
    • myopathy with lysis of type I myofibrils
Mus musculus (house mouse)
DOID:0111268
  • autosomal recessive hyaline body myopathy
  • Aliases:
    • MSMB
    • Myopathy, myosin storage, autosomal recessive
    • congenital myopathy 7B
Mus musculus (house mouse)
DOID:0111268
  • autosomal recessive hyaline body myopathy
  • Aliases:
    • MSMB
    • Myopathy, myosin storage, autosomal recessive
    • congenital myopathy 7B
Homo sapiens (human)
DOID:0111266
  • geroderma osteodysplasticum
  • Aliases:
    • GO
    • Walt Disney dwarfism
    • geroderma osteodysplastica
    • gerodermia osteodysplastica
Mus musculus (house mouse)
DOID:0111265
  • Boucher-Neuhauser syndrome
  • Aliases:
    • ataxia-hypogonadism-choroidal dystrophy syndrome
Homo sapiens (human)
DOID:0111265
  • Boucher-Neuhauser syndrome
  • Aliases:
    • ataxia-hypogonadism-choroidal dystrophy syndrome
Mus musculus (house mouse)
DOID:0111265
  • Boucher-Neuhauser syndrome
  • Aliases:
    • ataxia-hypogonadism-choroidal dystrophy syndrome
Saccharomyces cerevisiae S288C
DOID:0111263
  • combined malonic and methylmalonic acidemia
  • Aliases:
    • CMAMMA
    • combined malonic and methylmalonic aciduria
Homo sapiens (human)
DOID:0111261
  • fumarase deficiency
  • Aliases:
    • FMRD
    • fumaric aciduria
Mus musculus (house mouse)
DOID:0111261
  • fumarase deficiency
  • Aliases:
    • FMRD
    • fumaric aciduria
Homo sapiens (human)
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Last updated: December 9, 2024