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Rare conditions starting with A
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653 conditions starting with A
- A20 haploinsufficiency
- AA amyloidosis
- Aase-Smith syndrome
- Abdominal cystic lymphangioma
- Abetalipoproteinaemia
- Ablepharon macrostomia syndrome
- Abortive cerebellar ataxia
- ABri amyloidosis
- Abruzzo-Erickson syndrome
- Absence deformity of leg-cataract syndrome
- Absent foot
- Absent hand
- Absent radius-anogenital anomalies syndrome
- Absent septum pellucidum
- Absent tibia-polydactyly-arachnoid cyst syndrome
- Acalvaria
- Acanthamoeba keratitis
- Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
- Acatalasia
- Accessory pancreas
- Achalasia microcephaly syndrome
- Acheiropodia
- Achondrogenesis
- Achondrogenesis, type IB
- Achondroplasia
- Achromatopsia
- Achromatopsia 2
- Achromatopsia 3
- Achromatopsia 6
- Acid phosphatase deficiency
- Acid sphingomyelinase deficiency
- Ackerman syndrome
- Acoustic neuroma
- Acquired adult-onset immunodeficiency
- Acquired angioedema
- Acquired epidermolysis bullosa
- Acquired factor VIII deficiency disease
- Acquired generalized lipodystrophy
- Acquired hemoglobin H disease
- Acquired hemophilia
- Acquired hypertrichosis lanuginosa
- Acquired idiopathic inflammatory myopathy
- Acquired partial lipodystrophy
- Acquired polycythemia vera
- Acquired thrombotic thrombocytopenic purpura
- Acquired von willebrand syndrome
- Acral peeling skin syndrome
- Acral self-healing collodion baby
- Acro-renal-mandibular syndrome
- Acrocallosal syndrome
- Acrocapitofemoral dysplasia
- Acrocardiofacial syndrome
- Acrocephalopolydactyly
- Acrocephalosyndactyly type I
- Acrocephalosyndactyly type V
- Acrocraniofacial dysostosis
- Acrodysostosis
- Acroerythrokeratoderma
- Acrofacial dysostosis Rodriguez type
- Acrofacial dysostosis, Catania type
- Acrofacial dysostosis, Kennedy-Teebi type
- Acrofacial dysostosis, Palagonia type
- Acrofrontofacionasal dysostosis
- Acrofrontofacionasal dysostosis type 2
- Acrokerato-elastoidosis
- Acrokeratosis verruciformis of Hopf
- Acromegaloid facial appearance syndrome
- Acromegaly
- Acromelanosis
- Acromelic frontonasal dysostosis
- Acromesomelic dysplasia
- Acromesomelic dysplasia 1, Maroteaux type
- Acromesomelic dysplasia 2B
- Acromesomelic dysplasia 2C, Hunter-Thompson type
- Acromesomelic dysplasia 3
- Acromesomelic dysplasia, Campailla Martinelli type
- Acromicric dysplasia
- Acroosteolysis-keloid-like lesions-premature aging syndrome
- Acrootoocular syndrome
- Acropectoral syndrome
- Acropectororenal dysplasia
- Acropectorovertebral dysplasia
- Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes
- Acrorenal syndrome
- Actin accumulation myopathy
- Actinic lichen planus
- Actinomycotic infection
- Action myoclonus-renal failure syndrome
- Activated PI3K-delta syndrome
- Acute bilirubin encephalopathy
- Acute disseminated encephalomyelitis
- Acute fatty liver of pregnancy
- Acute febrile mucocutaneous lymph node syndrome
- Acute febrile neutrophilic dermatosis
- Acute flaccid myelitis
- Acute graft versus host disease
- Acute hemorrhagic leukoencephalitis
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
- Acute intermittent porphyria
- Acute interstitial pneumonia
- Acute leukemia
- Acute leukemia of ambiguous lineage
- Acute lichenoid pityriasis
- Acute lymphoid leukemia
- Acute megakaryoblastic leukemia
- Acute monocytic leukemia
- Acute myeloblastic leukemia with maturation
- Acute myeloblastic leukemia without maturation
- Acute myeloid leukemia
- Acute myeloid leukemia by FAB classification
- Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
- Acute myeloid leukemia with CEBPA somatic mutations
- Acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)
- Acute myeloid leukemia with multilineage dysplasia
- Acute myeloid leukemia, M6 type
- Acute myelomonocytic leukemia M4
- Acute necrotizing encephalitis
- Acute necrotizing encephalopathy of childhood
- Acute panmyelosis with myelofibrosis
- Acute posterior multifocal placoid pigment epitheliopathy
- Acute promyelocytic leukemia
- Acute zonal occult outer retinopathy
- Acyl-CoA dehydrogenase 9 deficiency
- Acyl-CoA oxidase deficiency
- Adactylia, unilateral
- Adams-Oliver syndrome
- ADan amyloidosis
- Adducted thumbs-arthrogryposis syndrome, Christian type
- Adenine phosphoribosyltransferase deficiency
- Adenoid cystic carcinoma
- Adenoma of pancreas
- Adenosine kinase deficiency
- Adenosine monophosphate deaminase deficiency
- Adenosine triphosphatase deficiency, anemia due to
- Adenylosuccinate lyase deficiency
- Adermatoglyphia
- ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- Adrenal cortex carcinoma
- Adrenal gland cancer
- Adrenal medulla cancer
- Adrenoleukodystrophy
- Adrenomyeloneuropathy
- Adrenomyodystrophy
- Adult familial nephronophthisis-spastic quadriparesia syndrome
- Adult hepatocellular carcinoma
- Adult neuronal ceroid lipofuscinosis
- Adult polyglucosan body disease
- Adult pure red cell aplasia
- ADULT syndrome
- Adult-onset autosomal dominant demyelinating leukodystrophy
- Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
- Adult-onset distal myopathy due to VCP mutation
- Adult-onset foveomacular vitelliform dystrophy
- Adult-onset nemaline myopathy
- Adult-onset proximal spinal muscular atrophy, autosomal dominant
- Adult-onset Still disease
- Advanced sleep phase syndrome
- Aerobic Actinomyces infection
- African nutritional hemochromatosis
- Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
- Aganglionic megacolon
- Agenesis of the corpus callosum with peripheral neuropathy
- Aggressive NK-cell leukemia
- Aglossia-adactyly syndrome
- Agnathia-otocephaly complex
- AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
- AICA-ribosiduria
- Aicardi Goutieres syndrome
- Aicardi syndrome
- AKT2-related familial partial lipodystrophy
- AL amyloidosis
- Al Gazali Khidr Prem Chandran syndrome
- Al-Gazali syndrome
- Alacrima, achalasia, and intellectual disability syndrome
- Aland island eye disease
- Alar cartilages hypoplasia-coloboma-telecanthus syndrome
- Albinism-hearing loss syndrome
- Aldosterone-producing adenoma with seizures and neurological abnormalities
- Aleukemic leukemia cutis
- Alexander disease
- ALG1-congenital disorder of glycosylation
- ALG11-congenital disorder of glycosylation
- ALG12-congenital disorder of glycosylation
- ALG2-congenital disorder of glycosylation
- ALG3-congenital disorder of glycosylation
- ALG6-congenital disorder of glycosylation 1C
- ALG8 congenital disorder of glycosylation
- ALG9 congenital disorder of glycosylation
- Alkaline ceramidase 3 deficiency
- Alkaptonuria
- Allan-Herndon-Dudley syndrome
- Allergic bronchopulmonary aspergillosis
- Alobar holoprosencephaly
- Alopecia - contractures - dwarfism - intellectual disability syndrome
- Alopecia - intellectual disability syndrome
- Alopecia antibody deficiency
- Alopecia totalis
- Alopecia universalis congenita
- Alopecia universalis onychodystrophy vitiligo
- Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
- Alopecia-intellectual disability syndrome 2
- Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
- Alpha Thalassemia
- Alpha thalassemia-intellectual disability syndrome type 1
- Alpha thalassemia-X-linked intellectual disability syndrome
- Alpha-1-antitrypsin deficiency
- Alpha-2-plasmin inhibitor deficiency
- Alpha-methylacyl-CoA racemase deficiency
- Alpha-N-acetylgalactosaminidase deficiency
- Alpha-N-acetylgalactosaminidase deficiency type 1
- Alpha-N-acetylgalactosaminidase deficiency type 2
- Alpha-N-acetylgalactosaminidase deficiency type 3
- Alpha, alpha-Trehalase deficiency
- Alport syndrome
- Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
- ALPS
- ALS
- Alstrom syndrome
- Alternating hemiplegia of childhood
- Alveolar capillary dysplasia with pulmonary venous misalignment
- Alveolar echinococcosis
- Alveolar rhabdomyosarcoma
- Alveolar soft part sarcoma
- Alzheimer disease without neurofibrillary tangles
- Amaurosis-hypertrichosis syndrome
- Ambras type hypertrichosis universalis congenita
- Amelia of lower limb
- Amelia of upper limb
- Ameloblastic carcinoma
- Ameloblastoma
- Amelocerebrohypohidrotic syndrome
- Amelogenesis imperfecta
- Amelogenesis imperfecta type 1
- Amelogenesis imperfecta type 1E
- Amelogenesis imperfecta type 1G
- Amelogenesis imperfecta type 2
- Amelogenesis imperfecta type 2A1
- Ameloonychohypohidrotic syndrome
- Aminoacylase 1 deficiency
- Amish lethal microcephaly
- Amniotic band syndrome
- Amoebiasis due to Entamoeba histolytica
- Amoebiasis due to free-living amoebae
- Amyelia
- Amyloidosis
- Amyopathic dermatomyositis
- Amyotonia congenita
- Amyotrophic lateral sclerosis type 10
- Amyotrophic lateral sclerosis type 4
- Amyotrophic lateral sclerosis-parkinsonism-dementia complex
- Amyotrophic neuralgia
- Anal fistula
- Anaplastic ependymoma
- Anaplastic ganglioglioma
- Anaplastic large cell lymphoma
- Anaplastic oligoastrocytoma
- Anaplastic oligodendroglioma
- Anaplastic pleomorphic xanthoastrocytoma
- Anauxetic dysplasia
- Ancylostomiasis
- Andersen Tawil syndrome
- Androgen resistance syndrome
- ANE syndrome
- Anemia, hypochromic microcytic with iron overload
- Anemia, nonspherocytic hemolytic, due to G6PD deficiency
- Anemia, sideroblastic, pyridoxine-responsive, autosomal recessive
- Anencephaly 1
- Aneurysm of sinus of Valsalva
- Aneurysm-osteoarthritis syndrome
- Aneurysm, intracranial berry, 2
- Angel-shaped phalango-epiphyseal dysplasia
- Angelman syndrome
- Angioimmunoblastic T-cell lymphoma
- Angioma serpiginosum
- Angioosteohypertrophic syndrome
- Angioosteohypotrophic syndrome
- Angiosarcoma
- Angiostrongyliasis
- Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
- Aniridia - intellectual disability syndrome
- Aniridia-absent patella syndrome
- Aniridia-ptosis-intellectual disability-familial obesity syndrome
- Aniridia-renal agenesis-psychomotor retardation syndrome
- Anisakiasis
- Ankyloblepharon filiforme adnatum-cleft palate syndrome
- Ankyloblepharon filiforme-imperforate anus syndrome
- Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- Ankylosis of tooth
- Annular atrophic lichen planus
- Annular epidermolytic ichthyosis
- Annular lichen planus
- Annular pancreas
- Anodontia
- Anonychia
- Anonychia with flexural pigmentation
- Anonychia-microcephaly syndrome
- Anonychia-onychodystrophy syndrome
- Anonychia-onychodystrophy with brachydactyly type b and ectrodactyly
- Anophthalmia plus syndrome
- Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
- Anophthalmia/microphthalmia-esophageal atresia syndrome
- Anotia
- Antecubital pterygium syndrome
- Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
- Anterior ischemic optic neuropathy
- Anterior segment dysgenesis
- Anterior segment dysgenesis 3
- Anterior segment dysgenesis 4
- Anterior segment dysgenesis 8
- Anthrax infection
- Anti-glomerular basement membrane disease
- Anti-HLA hyperimmunization
- Anti-neutrophil cytoplasmic antibody-associated vasculitis
- Antiphospholipid syndrome
- Antisynthetase syndrome
- Antley-Bixler syndrome
- Aortic aneurysm, familial thoracic 4
- Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
- Aortic arch defects
- Aortic arch interruption
- Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
- Aphalangy-syndactyly-microcephaly syndrome
- Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
- Aplasia cutis congenita
- Aplasia cutis congenita-intestinal lymphangiectasia syndrome
- Aplasia cutis-myopia syndrome
- Aplasia of the nose
- Aplastic anemia
- Apparent mineralocorticoid excess
- Appendix adenocarcinoma
- Aprosencephaly cerebellar dysgenesis
- Aquagenic palmoplantar keratoderma
- Arachnodactyly-abnormal ossification-intellectual disability syndrome
- Arachnodactyly-intellectual disability-dysmorphism syndrome
- Arachnoid cyst
- Arachnoiditis
- Argentine hemorrhagic fever
- Arginase deficiency
- Arginine:glycine amidinotransferase deficiency
- Argininosuccinate lyase deficiency
- Armfield syndrome
- Arnold stickler bourne syndrome
- Aromatase deficiency
- Aromatase excess syndrome
- Arrhinia with choanal atresia and microphthalmia syndrome
- Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
- Arrhythmogenic right ventricular cardiomyopathy
- Arterial calcification of infancy
- Arterial tortuosity syndrome
- Arteriohepatic dysplasia
- Arthrogryposis due to muscular dystrophy
- Arthrogryposis multiplex congenita
- Arthrogryposis multiplex congenita 2, neurogenic type
- Arthrogryposis multiplex congenita-whistling face syndrome
- Arthrogryposis with renal dysfunction and cholestasis syndrome
- Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome
- Arthrogryposis-ectodermal dysplasia-other anomalies syndrome
- Arthrogryposis-hyperkeratosis syndrome, lethal form
- Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
- Arthrogryposis-like syndrome
- Arthrogryposis-severe scoliosis syndrome
- Arts syndrome
- ASAH1-related sphingolipidosis
- Asbestosis
- Ascher syndrome
- Aspartylglucosaminuria
- Aspergillosis
- Aspergillus niger infection
- Astley-Kendall dysplasia
- Astroblastoma
- Astrocytoma, anaplastic
- Asxl3-related disorder
- Ataxia - deafness - intellectual disability syndrome
- Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
- Ataxia - oculomotor apraxia type 4
- Ataxia - telangiectasia variant
- Ataxia neuropathy spectrum
- Ataxia with oculomotor apraxia type 3
- Ataxia-hypogonadism-choroidal dystrophy syndrome
- Ataxia-pancytopenia syndrome
- Ataxia-photosensitivity-short stature syndrome
- Ataxia-tapetoretinal degeneration syndrome
- Ataxia-telangiectasia syndrome
- Ataxia-telangiectasia-like disorder 1
- Ataxia-telangiectasia-like disorder 2
- Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
- Ateleiotic dwarfism
- Atelosteogenesis type I
- Atelosteogenesis type II
- Atelosteogenesis type III
- Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
- Atkin-Flaitz syndrome
- ATPase cation transporting 13A2 related juvenile neuronal ceroid lipofuscinosis
- Atransferrinemia
- Atresia of small intestine
- Atresia of urethra
- Atrial conduction disease
- Atrial septal defect 7
- Atrial septal defect, ostium primum type
- Atrial septal defect, ostium secundum type
- Atrial standstill
- Atrichia with papular lesions
- Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
- Atrophia bulborum hereditaria
- Atrophic lichen planus
- Atrophoderma of Pierini and Pasini
- Atrophoderma vermiculatum
- Attenuated Chédiak-Higashi syndrome
- Attenuated familial adenomatous polyposis
- ATTRV122I amyloidosis
- ATTRV30M amyloidosis
- Atypical hemolytic-uremic syndrome
- Atypical hypotonia-cystinuria syndrome
- Atypical juvenile parkinsonism
- Atypical Norrie disease due to monosomy Xp11.3
- Atypical progressive supranuclear palsy syndrome
- Atypical Rett syndrome
- Atypical teratoid rhabdoid tumor
- Atypical Werner syndrome
- Au-Kline syndrome
- Auditory neuropathy
- Auditory neuropathy-optic atrophy syndrome
- Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
- Auriculocondylar syndrome
- Auriculoosteodysplasia
- Autism spectrum disorder - epilepsy - arthrogryposis syndrome
- Autism spectrum disorder due to AUTS2 deficiency
- Autism-facial port-wine stain syndrome
- Autoerythrocyte sensitization syndrome
- Autoimmune encephalitis
- Autoimmune enteropathy
- Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
- Autoimmune hemolytic anemia
- Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
- Autoimmune hemolytic anemia, warm type
- Autoimmune hepatitis
- Autoimmune interstitial lung disease-arthritis syndrome
- Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency
- Autoimmune lymphoproliferative syndrome type 2B
- Autoimmune lymphoproliferative syndrome type 4
- Autoimmune myocarditis
- Autoimmune pancreatitis
- Autoimmune polyendocrinopathy type 3
- Autoimmune primary adrenal insufficiency
- Autoimmune pulmonary alveolar proteinosis
- Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
- Autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive
- Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
- Autoinflammatory syndrome, familial, Behcet-like 1
- Autosomal agammaglobulinemia
- Autosomal dominant Alport syndrome
- Autosomal dominant aplasia and myelodysplasia
- Autosomal dominant centronuclear myopathy
- Autosomal dominant cerebellar ataxia
- Autosomal dominant cerebellar ataxia, deafness and narcolepsy
- Autosomal dominant charcot-marie-tooth disease type 2 due to DGAT2 mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
- Autosomal dominant Charcot-Marie-Tooth disease type 2M
- Autosomal dominant Charcot-Marie-Tooth disease type 2W
- Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
- Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
- Autosomal dominant chondrodysplasia punctata
- Autosomal dominant complex spastic paraplegia type 9B
- Autosomal dominant deafness - onychodystrophy syndrome
- Autosomal dominant distal renal tubular acidosis
- Autosomal dominant epidermolytic ichthyosis
- Autosomal dominant epilepsy with auditory features
- Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
- Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
- Autosomal dominant hyperinsulinism due to SUR1 deficiency
- Autosomal dominant hypocalcemia
- Autosomal dominant hypohidrotic ectodermal dysplasia
- Autosomal dominant hypophosphatemic rickets
- Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
- Autosomal dominant intermediate Charcot-Marie-Tooth disease
- Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
- Autosomal dominant isolated somatotropin deficiency
- Autosomal dominant Kenny-Caffey syndrome
- Autosomal dominant keratitis
- Autosomal dominant lamellar ichthyosis
- Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
- Autosomal dominant limb-girdle muscular dystrophy type 1F
- Autosomal dominant limb-girdle muscular dystrophy type 1G
- Autosomal dominant limb-girdle muscular dystrophy type 1H
- Autosomal dominant macrothrombocytopenia
- Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
- Autosomal dominant mitochondrial myopathy with exercise intolerance
- Autosomal dominant myoglobinuria
- Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
- Autosomal dominant neovascular inflammatory vitreoretinopathy
- Autosomal dominant nocturnal frontal lobe epilepsy
- Autosomal dominant non-syndromic intellectual disability
- Autosomal dominant nonsyndromic hearing loss 17
- Autosomal dominant nonsyndromic hearing loss 22
- Autosomal dominant nonsyndromic hearing loss 23
- Autosomal dominant nonsyndromic hearing loss 24
- Autosomal dominant nonsyndromic hearing loss 2A
- Autosomal dominant nonsyndromic hearing loss 3A
- Autosomal dominant nonsyndromic hearing loss 53
- Autosomal dominant omodysplasia
- Autosomal dominant optic atrophy and peripheral neuropathy
- Autosomal dominant optic atrophy classic form
- Autosomal dominant optic atrophy plus syndrome
- Autosomal dominant osteopetrosis 1
- Autosomal dominant osteopetrosis 2
- Autosomal dominant palmoplantar keratoderma and congenital alopecia
- Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
- Autosomal dominant polycystic liver disease
- Autosomal dominant popliteal pterygium syndrome
- Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
- Autosomal dominant primary microcephaly
- Autosomal dominant progressive external ophthalmoplegia
- Autosomal dominant pseudohypoaldosteronism type 1
- Autosomal dominant rhegmatogenous retinal detachment
- Autosomal dominant Robinow syndrome
- Autosomal dominant severe congenital neutropenia
- Autosomal dominant slowed nerve conduction velocity
- Autosomal dominant spondylocostal dysostosis
- Autosomal dominant trichoodontoonychodysplasia-syndactyly
- Autosomal dominant vibratory urticaria
- Autosomal dominant vitreoretinochoroidopathy
- Autosomal erythropoietic protoporphyria
- Autosomal recessive Alport syndrome
- Autosomal recessive amelia
- Autosomal recessive ataxia due to ubiquinone deficiency
- Autosomal recessive ataxia, Beauce type
- Autosomal recessive axonal charcot-marie-tooth disease due to copper metabolism defect
- Autosomal recessive axonal neuropathy with neuromyotonia
- Autosomal recessive bestrophinopathy
- Autosomal recessive brachyolmia
- Autosomal recessive centronuclear myopathy
- Autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
- Autosomal recessive cerebellar ataxia with late-onset spasticity
- Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome
- Autosomal recessive cerebral atrophy
- Autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction
- Autosomal recessive complex spastic paraplegia type 9B
- Autosomal recessive congenital ichthyosis
- Autosomal recessive congenital ichthyosis 1
- Autosomal recessive congenital ichthyosis 11
- Autosomal recessive congenital ichthyosis 4A
- Autosomal recessive congenital ichthyosis 4B
- Autosomal recessive congenital ichthyosis 5
- Autosomal recessive cutis laxa type 1
- Autosomal recessive cutis laxa type 2B
- Autosomal recessive distal osteolysis syndrome
- Autosomal recessive distal renal tubular acidosis
- Autosomal recessive distal spinal muscular atrophy 1
- Autosomal recessive distal spinal muscular atrophy 2
- Autosomal recessive DOPA responsive dystonia
- Autosomal recessive early-onset Parkinson disease 6
- Autosomal recessive epidermolytic ichthyosis
- Autosomal recessive faciodigitogenital syndrome
- Autosomal recessive frontotemporal pachygyria
- Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
- Autosomal recessive hyperinsulinism due to SUR1 deficiency
- Autosomal recessive hypohidrotic ectodermal dysplasia syndrome
- Autosomal recessive hypophosphatemic bone disease
- Autosomal recessive hypophosphatemic vitamin D refractory rickets
- Autosomal recessive infantile hypercalcemia
- Autosomal recessive inherited pseudoxanthoma elasticum
- Autosomal recessive intermediate Charcot-Marie-Tooth disease
- Autosomal recessive juvenile Parkinson disease 2
- Autosomal recessive Kenny-Caffey syndrome
- Autosomal recessive keratitis-ichthyosis-deafness syndrome
- Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
- Autosomal recessive limb-girdle muscular dystrophy type 2A
- Autosomal recessive limb-girdle muscular dystrophy type 2B
- Autosomal recessive limb-girdle muscular dystrophy type 2C
- Autosomal recessive limb-girdle muscular dystrophy type 2D
- Autosomal recessive limb-girdle muscular dystrophy type 2E
- Autosomal recessive limb-girdle muscular dystrophy type 2F
- Autosomal recessive limb-girdle muscular dystrophy type 2G
- Autosomal recessive limb-girdle muscular dystrophy type 2I
- Autosomal recessive limb-girdle muscular dystrophy type 2J
- Autosomal recessive limb-girdle muscular dystrophy type 2K
- Autosomal recessive limb-girdle muscular dystrophy type 2L
- Autosomal recessive limb-girdle muscular dystrophy type 2M
- Autosomal recessive limb-girdle muscular dystrophy type 2N
- Autosomal recessive limb-girdle muscular dystrophy type 2O
- Autosomal recessive limb-girdle muscular dystrophy type 2P
- Autosomal recessive limb-girdle muscular dystrophy type 2Q
- Autosomal recessive limb-girdle muscular dystrophy type 2R1
- Autosomal recessive limb-girdle muscular dystrophy type 2T
- Autosomal recessive limb-girdle muscular dystrophy type 2U
- Autosomal recessive limb-girdle muscular dystrophy type 2W
- Autosomal recessive limb-girdle muscular dystrophy type 2X
- Autosomal recessive limb-girdle muscular dystrophy type 2Y
- Autosomal recessive limb-girdle muscular dystrophy type R18
- Autosomal recessive multiple pterygium syndrome
- Autosomal recessive myogenic arthrogryposis multiplex congenita
- Autosomal recessive nonsyndromic hearing loss 1A
- Autosomal recessive nonsyndromic hearing loss 47
- Autosomal recessive nonsyndromic hearing loss 51
- Autosomal recessive nonsyndromic hearing loss 55
- Autosomal recessive nonsyndromic hearing loss 9
- Autosomal recessive omodysplasia
- Autosomal recessive optic atrophy, OPA7 type
- Autosomal recessive osteopetrosis
- Autosomal recessive osteopetrosis 1
- Autosomal recessive osteopetrosis 2
- Autosomal recessive osteopetrosis 5
- Autosomal recessive osteopetrosis 6
- Autosomal recessive osteopetrosis 7
- Autosomal recessive palmoplantar keratoderma and congenital alopecia
- Autosomal recessive Parkinson disease 14
- Autosomal recessive polycystic kidney disease
- Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
- Autosomal recessive primary microcephaly
- Autosomal recessive progressive external ophthalmoplegia
- Autosomal recessive Robinow syndrome
- Autosomal recessive secondary polycythemia not associated with VHL gene
- Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
- Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
- Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency
- Autosomal recessive sideroblastic anemia
- Autosomal recessive spastic paraplegia type 59
- Autosomal recessive spastic paraplegia type 60
- Autosomal recessive spastic paraplegia type 66
- Autosomal recessive spastic paraplegia type 67
- Autosomal recessive spastic paraplegia type 69
- Autosomal recessive spastic paraplegia type 70
- Autosomal recessive spastic paraplegia type 71
- Autosomal recessive spastic paraplegia type 76
- Autosomal recessive spastic paraplegia type 78
- Autosomal recessive spinocerebellar ataxia 10
- Autosomal recessive spinocerebellar ataxia 11
- Autosomal recessive spinocerebellar ataxia 12
- Autosomal recessive spinocerebellar ataxia 14
- Autosomal recessive spinocerebellar ataxia 15
- Autosomal recessive spinocerebellar ataxia 16
- Autosomal recessive spinocerebellar ataxia 17
- Autosomal recessive spinocerebellar ataxia 2
- Autosomal recessive spinocerebellar ataxia 20
- Autosomal recessive spinocerebellar ataxia 7
- Autosomal recessive spondylocostal dysostosis
- Autosomal recessive spondyloepimetaphyseal dysplasia
- Autosomal recessive spondylometaphyseal dysplasia, Megarbane type
- Autosomal semi-dominant severe lipodystrophic laminopathy
- Autosomal systemic lupus erythematosus type 16
- Avellino corneal dystrophy
- Avian influenza
- Axenfeld anomaly
- Axenfeld-Rieger syndrome
- Axial mesodermal dysplasia spectrum
- Axial osteomalacia
- Axial osteosclerosis
- Axial spondylometaphyseal dysplasia
- Ayme-Gripp syndrome
- Azorean disease
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