Disease Index
9,486 diseasesautosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
autosomal recessive metabolic cerebellar ataxia
human disease
autosomal recessive multiple epiphyseal dysplasia
medical condition
MeSH: C535504
autosomal recessive myogenic arthrogryposis multiplex congenita
autosomal recessive non-syndromic intellectual disability
human disease
MeSH: C565406
autosomal recessive nonsyndromic deafness
nonsyndromic deafness characterized by an autosomal recessive inheritance mode
autosomal recessive nonsyndromic deafness 106
human disease
autosomal recessive nonsyndromic deafness 107
human disease
autosomal recessive nonsyndromic deafness 108
human disease
autosomal recessive nonsyndromic deafness 30
autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has material basis in mutations in the MYO3A gene on chromosome 10p12.1
MeSH: C564624
autosomal recessive osteopetrosis 3
osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21
autosomal recessive osteopetrosis 6
osteopetrosis characterized by autosomal recessive inheritance of that has material basis in mutation in the PLEKHM1 gene on chromosome 17q21.31
MeSH: C566931
autosomal recessive osteopetrosis 7
osteopetrosis characterized by autosomal recessive inheritance that has material basis in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21
MeSH: C567354
autosomal recessive palmoplantar keratoderma and congenital alopecia
ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation
MeSH: C535336
autosomal recessive Parkinson disease 14
Adult-onset dystonia-parkinsonism is a rare neurodegenerative disease usually presenting before the age of 30 and which is characterized by dystonia, L-dopa-responsive parkinsonism, pyramidal signs and rapid cognitive decline
MeSH: C567844
autosomal recessive polycystic kidney
recessive form of polycystic kidney disease
MeSH: D017044
autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
human disease
autosomal recessive progressive external ophthalmoplegia
Autosomal recessive form of progressive external ophthalmoplegia
MeSH: C564926
autosomal recessive proximal renal tubular acidosis
MeSH: C567038
autosomal recessive pseudohypoaldosteronism type 1
human disease
autosomal recessive pure spastic paraplegia
Autosomal recessive form of pure hereditary spastic paraplegia
autosomal recessive Robinow syndrome
Human disease
MeSH: C535863
autosomal recessive secondary polycythemia not associated with VHL gene
human disease
autosomal recessive severe congenital neutropenia due to CSF3R deficiency
human disease
autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
human disease
autosomal recessive sideroblastic anemia
autosomal recessive spastic ataxia
Autosomal recessive form of spastic ataxia
autosomal recessive spastic paraplegia type 59
human disease
autosomal recessive spastic paraplegia type 60
human disease