Disease Index
9,486 diseasesdystonia 25
multifocal dystonia characterized by autosomal dominant inheritance of cervical, laryngeal and hand-forearm dystonia that has material basis in heterozygous mutation in the GNAL gene on chromosome 18p11
dystonia 27
human disease
dystonia 5
human disease
dystonia 9
human disease
MeSH: C563401
dystonia-aphonia syndrome
human disease
dystroglycanopathy
group
ICD: E77.8
dystrophic epidermolysis bullosa pruriginosa
Dystrophic epidermolysis bullosa pruriginosa is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) characterized by generalized or localized skin lesions associated with severe, if not intractable, pruritus
MeSH: C563192
dystrophic epidermolysis bullosa, nails only
Dystrophic epidermolysis bullosa, nails only is a rare subtype of dystrophic epidermolysis bullosa (DEB, see this term) that shows no blistering and that is characterized by dystrophic or absent nails
Eales disease
Eales disease (ED) is an idiopathic, inflammatory retinal venous occlusive disease characterized by 3 stages: vasculitis, occlusion and retinal neovascularization, leading to recurrent vitreous hemorrhages and vision loss
ICD: H35.0MeSH: C538011
early infantile epileptic encephalopathy 23
early infantile epileptic encephalopathy that has material basis in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31
early infantile epileptic encephalopathy 35
human disease
early infantile epileptic encephalopathy 36
human disease
early infantile epileptic encephalopathy 39
infantile epileptic encephalopathy that has material basis in mutation in the SLC25A12 gene on chromosome 2q31
early infantile epileptic encephalopathy 50
human disease
early infantile epileptic encephalopathy 55
human disease
early infantile epileptic encephalopathy 7
human disease
early infantile epileptic encephalopathy 8
human disease
early infantile epileptic encephalopathy 9
infantile epileptic encephalopathy that has material basis in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22
early-onset anterior polar cataract
human disease
MeSH: C538282
early-onset ataxia with dementia
human disease
early-onset autosomal dominant Alzheimer disease
Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.
early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
human disease
early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
human disease
early-onset Lafora body disease
early-onset myopathy with fatal cardiomyopathy
human disease
MeSH: C567129
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
human disease
early-onset nuclear cataract
human disease
MeSH: C563333
early-onset parkinsonism-intellectual disability syndrome
human disease
MeSH: C537179
early-onset partial cataract
human disease
early-onset posterior polar cataract
human disease