Agent Commons Collaborative Research

Autosomal recessive disease

Autosomal recessive form of disease.

Identifiers
MONDO:0006025
Part of
Autosomal genetic disease
Also known as
autosomal recessive disease or disorder · autosomal recessive hereditary disease · autosomal recessive hereditary disorder · autosomal recessive inherited disease · autosomal recessive inherited disorder

Subtypes

All diseases Rare only
Disease Subtypes
Hearing loss, autosomal recessive 102
Autosomal recessive cerebellar ataxia 91
Intellectual disability, autosomal recessive 79
Peroxisome biogenesis disorder 47
Autosomal recessive limb-girdle muscular dystrophy 33
Autosomal recessive primary microcephaly 32
Bardet-Biedl syndrome 22
Usher syndrome 19
Nephronophthisis 18
Seckel syndrome 12
Neuronopathy, distal hereditary motor, autosomal recessive 12
Aicardi-Goutieres syndrome 11
Craniosynostosis syndrome, autosomal recessive 11
Galloway-Mowat syndrome 10
Meier-Gorlin syndrome 10
Autosomal recessive osteopetrosis 10
Senior-Loken syndrome 9
Autosomal recessive titinopathy 8
Niemann-Pick disease type C 7
Perrault syndrome 7
Autosomal recessive spastic ataxia 7
Autosomal recessive intermediate Charcot-Marie-Tooth disease 6
Autosomal recessive severe congenital neutropenia 6
Congenital non-bullous ichthyosiform erythroderma 6
Proteosome-associated autoinflammatory syndrome 6
COFS syndrome 5
Autosomal recessive cutis laxa type 2 5
Autosomal recessive spondylocostal dysostosis 5
Cockayne syndrome 4
Warburg micro syndrome 4
Homocystinuria without methylmalonic aciduria 4
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency 4
Immunodeficiency-centromeric instability-facial anomalies syndrome 4
Mismatch repair cancer syndrome 4
Sickle cell disease 4
3-M syndrome 3
Fraser syndrome 3
Shwachman-Diamond syndrome 3
UV-sensitive syndrome 3
Autosomal recessive cutis laxa type 1 3
Autosomal recessive distal renal tubular acidosis 3
Congenital vertebral-cardiac-renal anomalies syndrome 3
Leukocyte adhesion deficiency 3
Phenylketonuria 3
Pseudo-TORCH syndrome 3
ALPL-related autosomal recessive hypophosphatasia 2
GUCY2D-related recessive retinopathy 2
HOXA1-related syndrome 2
Ochoa syndrome 2
RPE65-related recessive retinopathy 2
Schwartz-Jampel syndrome 2
Autosomal recessive brachyolmia 2
Autosomal recessive hypohidrotic ectodermal dysplasia 2
Autosomal recessive hypophosphatemic rickets 2
Autosomal recessive ocular albinism 2
Autosomal recessive polycystic kidney disease 2
Autosomal recessive progressive external ophthalmoplegia 2
Autosomal recessive sideroblastic anemia 2
Brittle cornea syndrome 2
De Barsy syndrome 2
Hydrolethalus syndrome 2
Hypercalcemia, infantile 2
Nephropathic cystinosis 2
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly 2
CEP164-related ciliopathy 1
Ellis-van Creveld syndrome 1
IMPG1-related recessive retinopathy 1
PROM1-related recessive retinopathy 1
SCN4A-related myopathy, autosomal recessive 1
Autosomal recessive epidermolytic ichthyosis 1
Autosomal recessive multiple pterygium syndrome 1
Bifid nose, autosomal recessive 1
Cartilage-hair hypoplasia 1
Cystic fibrosis 1
Alstrom syndrome
Behr syndrome
Bjornstad syndrome
Bloom syndrome
Bowen-Conradi syndrome
Donnai-Barrow syndrome
Donohue syndrome
Duane anomaly-myopathy-scoliosis syndrome
Ehlers-Danlos syndrome, classic-like, 2
Ehlers-Danlos syndrome, kyphoscoliotic type 1
GM3 synthase deficiency
GP1BA-related Bernard-Soulier syndrome
GP1BB-related Bernard-Soulier syndrome
GP9-related Bernard-Soulier syndrome
Glanzmann thrombasthenia 1
Glanzmann thrombasthenia 2
HELIX syndrome
Haim-Munk syndrome
Hutchinson-Gilford progeria syndrome
Imerslund-Grasbeck syndrome type 1
Imerslund-Grasbeck syndrome type 2
Johanson-Blizzard syndrome
Kilquist syndrome
Laron syndrome
Laurence-Moon syndrome
NAD(P)HX dehydratase deficiency
Naxos disease
Nestor-Guillermo progeria syndrome
Netherton syndrome
Niemann-Pick disease type A
Niemann-Pick disease type B
Nijmegen breakage syndrome
PHARC syndrome
Papillon-Lefevre disease
Pendred syndrome
Pierson syndrome
RP1-related recessive retinopathy
Rajab interstitial lung disease with brain calcifications 1
Roberts-SC phocomelia syndrome
Schöpf-Schulz-Passarge syndrome
Sjogren-Larsson syndrome
TH-deficient dopa-responsive dystonia
THG1L-related epileptic encephalopathy
Vici syndrome
Werner syndrome
Wolcott-Rallison syndrome
Achalasia microcephaly syndrome
Acromesomelic dysplasia 2B
Acrorenal syndrome, autosomal recessive
Alacrima, achalasia, and intellectual disability syndrome
Auditory neuropathy-optic atrophy syndrome
Autosomal recessive Alport syndrome
Autosomal recessive Ehlers-Danlos syndrome, vascular type
Autosomal recessive Kenny-Caffey syndrome
Autosomal recessive Robinow syndrome
Autosomal recessive amelia
Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect
Autosomal recessive cerebral atrophy
Autosomal recessive faciodigitogenital syndrome
Autosomal recessive familial Mediterranean fever
Autosomal recessive humeroradial synostosis
Autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius
Autosomal recessive inherited pseudoxanthoma elasticum
Autosomal recessive omodysplasia
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Autosomal recessive proximal renal tubular acidosis
Autosomal recessive spastic paraplegia type 78
Beta-ketothiolase deficiency
Brain small vessel disease 2B, autosomal recessive
Branched-chain keto acid dehydrogenase kinase deficiency
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
Cardiomyopathy-hypotonia-lactic acidosis syndrome
Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 1
Cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Cleft lip/palate-ectodermal dysplasia syndrome
Combined oxidative phosphorylation deficiency 29
Congenital myopathy 2b, severe infantile, autosomal recessive
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with reduced type 2 muscle fibers
Congenital prothrombin deficiency
Congenital stationary night blindness 1G
Craniometaphyseal dysplasia, autosomal recessive
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Dacryocystitis-osteopoikilosis syndrome
Dyskeratosis congenita, autosomal recessive 2
Dyskeratosis congenita, autosomal recessive 3
Dyskeratosis congenita, autosomal recessive 5
Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1
Eosinophil peroxidase deficiency
Extraoral halitosis due to methanethiol oxidase deficiency
Familial adenomatous polyposis 2
Glycosylphosphatidylinositol biosynthesis defect 15
Gnb5-related intellectual disability-cardiac arrhythmia syndrome
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive
Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy
Heart defects-limb shortening syndrome
Hydrocephalus, nonsyndromic, autosomal recessive 1
Hyper-IgM syndrome type 2
Hyperlipoproteinemia, type 1D
Hypermanganesemia with dystonia 2
Hyperphenylalaninemia due to DNAJC12 deficiency
Hypertelorism, microtia, facial clefting syndrome
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Hypoparathyroidism-retardation-dysmorphism syndrome
Ichthyosis linearis circumflexa
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
Immunodeficiency 31B
Inherited threoninemia
Isolated hyperchlorhidrosis
Joint laxity, short stature, and myopia
Leukoencephalopathy with calcifications and cysts
Leukoencephalopathy-palmoplantar keratoderma syndrome
Lipase deficiency, combined
Microcephaly and chorioretinopathy 2
Microcephaly, growth restriction, and increased sister chromatid exchange 2
Microphthalmia with limb anomalies
Mild hyperphenylalaninemia
Mitochondrial complex 2 deficiency, nuclear type 3
Mitochondrial complex 2 deficiency, nuclear type 4
Mitochondrial pyruvate carrier deficiency
Mulibrey nanism
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Myotonia congenita, autosomal recessive
Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
Oculodentodigital dysplasia, autosomal recessive
Odonto-onycho-dermal dysplasia
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Osteoporosis-pseudoglioma syndrome
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Permanent neonatal diabetes mellitus 1
Persistent hyperplastic primary vitreous, autosomal recessive
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Platelet-type bleeding disorder 8
Pseudohypoaldosteronism, type IB2, autosomal recessive
Pseudohypoaldosteronism, type IB3, autosomal recessive
Rapadilino syndrome
Scapuloperoneal spinal muscular atrophy, autosomal recessive
Severe combined immunodeficiency due to CARMIL2 deficiency
Short-rib thoracic dysplasia 9 with or without polydactyly
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Spastic paraplegia 18b, autosomal recessive
Spastic paraplegia 30B, autosomal recessive
Spondyloepimetaphyseal dysplasia with joint laxity, type 3
Spondyloepiphyseal dysplasia tarda, autosomal recessive
Temtamy preaxial brachydactyly syndrome
Thiamine-responsive megaloblastic anemia syndrome
Triple-A syndrome

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