Disease Index
9,486 diseasesautosomal recessive amelia
MeSH: C563338
autosomal recessive ataxia due to PEX10 deficiency
human disease
autosomal recessive ataxia due to ubiquinone deficiency
This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy
MeSH: C567436
autosomal recessive ataxia, Beauce type
gene mutations
autosomal recessive axonal hereditary motor and sensory neuropathy
Autosomal recessive form of axonal hereditary motor and sensory neuropathy
autosomal recessive brachyolmia
autosomal recessive centronuclear myopathy
inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy
autosomal recessive cerebellar ataxia
hereditary ataxia that has material basis in autosomal recessive inheritance
autosomal recessive cerebellar ataxia due to a DNA repair defect
human disease
autosomal recessive cerebellar ataxia with late-onset spasticity
autosomal recessive cerebellar ataxia-blindness-deafness syndrome
human disease
MeSH: C537309
autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
human disease
autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
human disease
autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
human disease
MeSH: C537310
autosomal recessive cerebral atrophy
human disease
autosomal recessive complex spastic paraplegia
Autosomal recessive form of complex hereditary spastic paraplegia
autosomal recessive complex spastic paraplegia type 9B
human disease
autosomal recessive congenital cerebellar ataxia
human disease
autosomal recessive congenital ichthyosis
skin disease that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization
autosomal recessive congenital ichthyosis
congenital skin disease
autosomal recessive congenital ichthyosis 1
autosomal recessive congenital ichthyosis characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has material basis in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2
autosomal recessive congenital ichthyosis 11
Human disease
MeSH: C536273
autosomal recessive congenital ichthyosis 14
human disease
autosomal recessive craniometaphyseal dysplasia
human disease
MeSH: C536570
autosomal recessive cutis laxa type 2
MeSH: C567855
autosomal recessive cutis laxa type 2, classic type
cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia
autosomal recessive cutis laxa type I
cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particulary in the lungs, vasculature, and gastrointestinal and genitourinary systems
MeSH: C562628
autosomal recessive cutis laxa type IC
autosomal recessive cutis laxa type I that has material basis in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13
MeSH: C567716
autosomal recessive cutis laxa type IIB
cutis laxa characterized by progeroid features that has material basis in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3