Disease Index
9,486 diseasesautosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
MeSH: C536328
Autosomal dominant porencephaly type I
medical condition
autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
human disease
autosomal dominant progressive external ophthalmoplegia
Autosomal dominant form of progressive external ophthalmoplegia
MeSH: C563575
autosomal dominant progressive nephropathy with hypertension
human disease
MeSH: C562889
autosomal dominant proximal renal tubular acidosis
autosomal dominant proximal spinal muscular atrophy
Autosomal dominant form of proximal spinal muscular atrophy
autosomal dominant pseudohypoaldosteronism type 1
pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has material basis in heterozygous mutation in the NR3C2 gene on chromosome 4q31
autosomal dominant pure spastic paraplegia
Autosomal dominant form of pure hereditary spastic paraplegia
autosomal dominant retinal vasculopathy with cerebral leukodystrophy
human disease
MeSH: C566007
autosomal dominant rhegmatogenous retinal detachment
Autosomal dominant form of rhegmatogenous retinal detachment
autosomal dominant Robinow syndrome 1
Human disease
autosomal dominant Robinow syndrome 2
Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has material basis in heterozygous mutation in the DVL1 gene on chromosome 1p36
autosomal dominant Robinow syndrome 3
Human disease
autosomal dominant secondary polycythemia
Autosomal dominant form of secondary polycythemia
autosomal dominant slowed nerve conduction velocity
MeSH: C564269
autosomal dominant spastic ataxia
Autosomal dominant form of spastic ataxia
autosomal dominant spastic paraplegia type 9
human disease
MeSH: C536868
autosomal dominant spondylocostal dysostosis
Autosomal dominant spondylocostal dysostosis is a very rare and mild form of spondylocostal dysostosis characterized by vertebral and costal segmentation defects, often with a reduction in the number of ribs
autosomal dominant striatal neurodegeneration type 1
Autosomal dominant striatal degeneration (ADSD) is an adult-onset movement disorder characterized by bradykinesia, dysarthria and muscle rigidity
autosomal dominant type IV Ehlers-Danlos syndrome
Human disease
MeSH: D000094623
autosomal dominant vibratory urticaria
autosomal dominant disease characterized by localized hives and systemic manifestations in response to dermal vibration, with coincident degranulation of mast cells and increased histamine levels in serum
autosomal dominant vitreoretinochoroidopathy
MeSH: C536352
autosomal ichthyosis syndrome
human disease
autosomal ichthyosis syndrome with fatal disease course
human disease
autosomal ichthyosis syndrome with other associated signs
human disease
autosomal ichthyosis syndrome with prominent hair abnormalities
human disease
autosomal ichthyosis syndrome with prominent neurological signs
human disease
autosomal monosomy
human disease
autosomal recessive Alport syndrome
Alport syndrome that has material -basis in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q