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1 | What is (are) Aarskog-Scott syndrome ? |
1 | What is (are) abdominal wall defect ? |
1 | What is (are) abetalipoproteinemia ? |
1 | What is (are) acatalasemia ? |
1 | What is (are) aceruloplasminemia ? |
1 | What is (are) achondrogenesis ? |
1 | What is (are) achondroplasia ? |
1 | What is (are) achromatopsia ? |
1 | What is (are) acral peeling skin syndrome ? |
1 | What is (are) acromicric dysplasia ? |
1 | What is (are) actin-accumulation myopathy ? |
1 | What is (are) activated PI3K-delta syndrome ? |
1 | What is (are) acute promyelocytic leukemia ? |
1 | What is (are) Adams-Oliver syndrome ? |
1 | What is (are) ADCY5-related dyskinesia ? |
1 | What is (are) adenine phosphoribosyltransferase deficiency ? |
1 | What is (are) adenosine deaminase deficiency ? |
1 | What is (are) adenosine monophosphate deaminase deficiency ? |
1 | What is (are) adenylosuccinate lyase deficiency ? |
1 | What is (are) adermatoglyphia ? |
1 | What is (are) adiposis dolorosa ? |
1 | What is (are) adolescent idiopathic scoliosis ? |
1 | What is (are) adult polyglucosan body disease ? |
1 | What is (are) adult-onset leukoencephalopathy with axonal spheroids and pigmented glia ? |
1 | What is (are) African iron overload ? |
1 | What is (are) age-related macular degeneration ? |
1 | What is (are) Aicardi syndrome ? |
1 | What is (are) Aicardi-Goutieres syndrome ? |
1 | What is (are) Alagille syndrome ? |
1 | What is (are) Alexander disease ? |
1 | What is (are) ALG1-congenital disorder of glycosylation ? |
1 | What is (are) ALG12-congenital disorder of glycosylation ? |
1 | What is (are) ALG6-congenital disorder of glycosylation ? |
1 | What is (are) alkaptonuria ? |
1 | What is (are) Allan-Herndon-Dudley syndrome ? |
1 | What is (are) allergic asthma ? |
1 | What is (are) Alpers-Huttenlocher syndrome ? |
1 | What is (are) alpha thalassemia ? |
1 | What is (are) alpha thalassemia X-linked intellectual disability syndrome ? |
1 | What is (are) alpha-1 antitrypsin deficiency ? |
1 | What is (are) alpha-mannosidosis ? |
1 | What is (are) alpha-methylacyl-CoA racemase deficiency ? |
1 | What is (are) Alport syndrome ? |
1 | What is (are) Alstrm syndrome ? |
1 | What is (are) alternating hemiplegia of childhood ? |
1 | What is (are) alveolar capillary dysplasia with misalignment of pulmonary veins ? |
1 | What is (are) Alzheimer disease ? |
1 | What is (are) amelogenesis imperfecta ? |
1 | What is (are) aminoacylase 1 deficiency ? |
1 | What is (are) Amish lethal microcephaly ? |
1 | What is (are) amyotrophic lateral sclerosis ? |
1 | What is (are) Andermann syndrome ? |
1 | What is (are) Andersen-Tawil syndrome ? |
1 | What is (are) androgen insensitivity syndrome ? |
1 | What is (are) androgenetic alopecia ? |
1 | What is (are) anencephaly ? |
1 | What is (are) Angelman syndrome ? |
1 | What is (are) anhidrotic ectodermal dysplasia with immune deficiency ? |
1 | What is (are) aniridia ? |
1 | What is (are) ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ? |
1 | What is (are) ankylosing spondylitis ? |
1 | What is (are) antiphospholipid syndrome ? |
1 | What is (are) Apert syndrome ? |
1 | What is (are) arginase deficiency ? |
1 | What is (are) arginine:glycine amidinotransferase deficiency ? |
1 | What is (are) argininosuccinic aciduria ? |
1 | What is (are) aromatase deficiency ? |
1 | What is (are) aromatase excess syndrome ? |
1 | What is (are) aromatic l-amino acid decarboxylase deficiency ? |
1 | What is (are) arrhythmogenic right ventricular cardiomyopathy ? |
1 | What is (are) arterial tortuosity syndrome ? |
1 | What is (are) Arts syndrome ? |
1 | What is (are) aspartylglucosaminuria ? |
1 | What is (are) Asperger syndrome ? |
1 | What is (are) asphyxiating thoracic dystrophy ? |
1 | What is (are) ataxia neuropathy spectrum ? |
1 | What is (are) ataxia with oculomotor apraxia ? |
1 | What is (are) ataxia with vitamin E deficiency ? |
1 | What is (are) ataxia-telangiectasia ? |
1 | What is (are) atelosteogenesis type 1 ? |
1 | What is (are) atelosteogenesis type 2 ? |
1 | What is (are) atelosteogenesis type 3 ? |
1 | What is (are) atopic dermatitis ? |
1 | What is (are) atypical hemolytic-uremic syndrome ? |
1 | What is (are) auriculo-condylar syndrome ? |
1 | What is (are) autoimmune Addison disease ? |
1 | What is (are) autoimmune lymphoproliferative syndrome ? |
1 | What is (are) autoimmune polyglandular syndrome, type 1 ? |
1 | What is (are) autosomal dominant congenital stationary night blindness ? |
1 | What is (are) autosomal dominant hyper-IgE syndrome ? |
1 | What is (are) autosomal dominant hypocalcemia ? |
1 | What is (are) autosomal dominant nocturnal frontal lobe epilepsy ? |
1 | What is (are) autosomal dominant partial epilepsy with auditory features ? |
1 | What is (are) autosomal dominant vitreoretinochoroidopathy ? |
1 | What is (are) autosomal recessive axonal neuropathy with neuromyotonia ? |
1 | What is (are) autosomal recessive cerebellar ataxia type 1 ? |
1 | What is (are) autosomal recessive congenital methemoglobinemia ? |
1 | What is (are) autosomal recessive congenital stationary night blindness ? |
1 | What is (are) autosomal recessive hyper-IgE syndrome ? |
1 | What is (are) autosomal recessive hypotrichosis ? |
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