Disease Index
9,486 diseasesautosomal recessive cutis laxa type IIC
autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has material basis in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11
autosomal recessive cutis laxa type IID
autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13
autosomal recessive cutis laxa type IIIA
human disease
autosomal recessive degenerative and progressive cerebellar ataxia
human disease
autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
human disease
autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
human disease
autosomal recessive disease with focal palmoplantar keratoderma as a major feature
Autosomal recessive form of disease with focal palmoplantar keratoderma as a major feature
autosomal recessive distal hereditary motor neuronopathy
spinal muscular atrophy that has material basis in autosomal recessive inheritance
autosomal recessive distal hereditary motor neuropathy
Autosomal recessive form of distal hereditary motor neuropathy
autosomal recessive distal myopathy
Autosomal recessive form of distal myopathy
autosomal recessive distal osteolysis syndrome
MeSH: C536052
autosomal recessive distal renal tubular acidosis
autosomal recessive distal spinal muscular atrophy 1
human disease
MeSH: C536880
autosomal recessive distal spinal muscular atrophy 2
human disease
MeSH: C535715
autosomal recessive dopa-responsive dystonia
Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD; see this term) to progressive infantile encephalopathy
autosomal recessive faciodigitogenital syndrome
Autosomal recessive facio-digito-genital syndrome is a very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum
autosomal recessive frontotemporal pachygyria
human disease
MeSH: C538092
autosomal recessive hereditary demyelinating motor and sensory neuropathy
human disease
autosomal recessive hereditary sensory and autonomic neuropathy
Autosomal recessive form of hereditary sensory and autonomic neuropathy
Autosomal recessive hyper IgE syndrome
autosomal recessive hypercholesterolemia
familial hypercholesterolemia characterized by autosomal inheritance that has material basis in homozygous mutation in the LDLRAP1 gene on chromosome 1p36
MeSH: C566331
autosomal recessive hyperinsulinism due to Kir6.2 deficiency
human disease
autosomal recessive hyperinsulinism due to SUR1 deficiency
human disease
autosomal recessive hypohidrotic ectodermal dysplasia
autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR receptor or EDAR-associated death domain protein
MeSH: D053360
autosomal recessive hypophosphatemic rickets
rickets that has material basis in autosomal recessive inheritance mutation in the DMP1 gene and is haracterized by hypophosphatemia, rickets and/or osteomalacia and slow growth
MeSH: C562792
autosomal recessive intermediate Charcot-Marie-Tooth disease
Autosomal recessive form of intermediate Charcot-Marie-tooth disease
autosomal recessive isolated diffuse palmoplantar keratoderma
Autosomal recessive form of isolated diffuse palmoplantar keratoderma
autosomal recessive isolated optic atrophy
human disease
autosomal recessive Kenny-Caffey syndrome
human disease
MeSH: C537021
autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
human disease