GGDonto: Genetic Glyco-Diseases Ontology
Legend:
Concept Types
target (clinical findings)
classification term
pathway-based classification term
clinical findings
multiple types disease
single disease
disease type
'Gonadal Disorders'
Congenital, Hereditary, and Neonatal Diseases and Abnormalities related to Glycans
Genetic Diseases, Inborn
Metabolism, Inborn Errors
Carbohydrate Metabolism, Inborn Errors
(synthesis)
Hereditary disorders by systems
Genetic disorders of glycan synthesis (by systems, signs and symptoms)
Diseases
Endocrine System Diseases
Gonadal Disorders
Disorders of Sex Development
Adrenogenital Syndrome
Hyperandrogenism
ALG6-CDG
(GDGDB)
[ALG6]
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
ALG6-CDG
(GDGDB)
[ALG6]
Hypogonadism
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, infantile multisystem stage
[PMM2]
PMM2-CDG, late-infantile and childhood ataxia-intellectual disability stage
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
ALG12-CDG
(GDGDB)
[ALG12]
ALG1-CDG
(GDGDB)
[ALG1]
Ovarian Diseases
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
Puberty, Delayed
PMM2-CDG
(GDGDB)
[PMM2]
PMM2-CDG, adult stable disability stage
[PMM2]
ALG6-CDG
(GDGDB)
[ALG6]
MGAT2-CDG
(GDGDB)
[MGAT2]
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