Disease Index
9,486 diseasesdisorder of protein N-glycosylation
disease that has its basis in the disruption of protein N-linked glycosylation
disorder of protein O-glycosylation
disease that has its basis in the disruption of protein O-linked glycosylation
disorder of pterin metabolism
human disease
disorder of pyridoxine metabolism
acquired metabolic disease that is has its basis in the disruption of pyridoxine metabolic process
disorder of sex development
medical condition involving the reproductive system
MeSH: D012734
disorder of sex development of gynecological interest
human disease
disorder of sex development-intellectual disability syndrome
Verloes-Gillerot-Fryns syndrome is a rare association of malformations
disorder of sialic acid metabolism
human disease
disorder of thiamine metabolism and transport
human disease
disorder of tryptophan metabolism
human disease
disorder of vitamin and non-protein cofactor absorption and transport
human disease
disorder of zinc metabolism
human disease
disorders of pentose/polyol metabolism
human disease
disorders of vitamin D metabolism
human disease
disseminated sclerosis with narcolepsy
human disease
MeSH: C565621
disseminated superficial actinic porokeratosis
Human disease
distal 10q deletion syndrome
Human disease
MeSH: C567182
distal 17p13.1 microdeletion syndrome
human disease
distal 17p13.3 microdeletion syndrome
distal 22q11.2 microduplication syndrome
distal 7q11.23 microdeletion syndrome
human disease
distal 7q11.23 microduplication syndrome
human disease
distal arthrogryposis
muscle tissue disease characterized by congenital joint contractures of hand and feet
MeSH: C535384
distal arthrogryposis type 5D
human disease
distal hereditary motor neuronopathy type 2
autosomal dominant distal hereditary motor neuronopathy characterized by adult onset of slowly progressive distal atrophy and weakness
distal hereditary motor neuronopathy type 5
autosomal dominant distal hereditary motor neuronopathy characterized by muscle weakness and wasting, predominantly confined to the hands, and often exclusively involve thenar and/or interosseus dorsalis I eminences
distal hereditary motor neuronopathy type 7
autosomal dominant distal hereditary motor neuronopathy characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis
Distal hereditary motor neuropathies
Human disease
distal hereditary motor neuropathy type 1
autosomal dominant neurodegenerative disorder characterized by juvenile onset, distal motor weakness without sensory impairment, and anterior horn cell degeneration
MeSH: C566675
distal hereditary motor neuropathy type 2
human disease
MeSH: C580044