| | Aarskog Ose Pande syndrome |
| | Abdallat Davis Farrage syndrome |
| | Abdominal aortic aneurysm |
| | Abdominal cystic lymphangioma |
| | Abdominal musculature absent microphthalmia joint laxity |
| | Abdominal neoplasm / Abdominal neoplasms |
| | Aberrant subclavian artery |
| | Ablepharon macrostomia syndrome |
| | Abnormal systemic venous return |
| | Abruzzo Erickson syndrome |
| | Absence of Gluteal muscle |
| | Absence of tibia with polydactyly |
| | Absent corpus callosum cataract immunodeficiency |
| | Accessory deep peroneal nerve |
| | Achalasia alacrimia syndrome |
| | Achalasia, familial esophageal |
| | Achalasia-Addisonianism-Alacrimia syndrome |
| | Achondrogenesis Kozlowski type |
| | Achondroplasia Swiss type agammaglobulinemia |
| | Achromatopsia incomplete, X-linked |
| | Acitretine antenatal infection |
| | Acquired Immune Deficiency Syndrome |
| | Acquired hypoprothrombinemia |
| | Acquired prothrombin deficiency |
| | Acral dysostosis dyserythropoiesis |
| | Acral renal mandibular syndrome |
| | Acro coxo mesomelic dysplasia |
| | Acro fronto facio nasal dysostosis |
| | Acrocallosal syndrome, Schinzel type |
| | Acrocephalosyndactyly Jackson Weiss type |
| | Acrocephaly pulmonary stenosis mental retardation |
| | Acrodermatitis enteropathica |
| | Acrofacial dysostosis Catania form |
| | Acrofacial dysostosis Preis type |
| | Acrofacial dysostosis Rodriguez type |
| | Acrofacial dysostosis Weyers type |
| | Acrofacial dysostosis ambiguous genitalia |
| | Acrofacial dysostosis atypical postaxial |
| | Acrofacial dysostosis, Nager type |
| | Acrofacial dysostosis, Palagonia type |
| | Acrokeratoelastoidosis of Costa |
| | Acromegaloid changes cutis verticis gyrata corneal |
| | Acromegaloid facial appearance syndrome |
| | Acromegaloid hypertrichosis syndrome |
| | Acromesomelic dysplasia Brahimi Bacha type |
| | Acromesomelic dysplasia Campailla Martinelli type |
| | Acromesomelic dysplasia Hunter Thompson type |
| | Acromesomelic dysplasia, Maroteaux type |
| | Acroosteolysis dominant type |
| | Acroosteolysis neurogenic |
| | Acroosteolysis osteoporosis skull and mandible changes |
| | Acropectorenal field defect |
| | Acropectorovertebral dysplasia |
| | Acrorenal syndrome recessive |
| | Actinomycetales infection |
| | Activated protein C resistance |
| | Acute articular rheumatism |
| | Acute erythroblastic leukemia |
| | Acute febrile neutrophilic dermatosis |
| | Acute idiopathic polyneuritis |
| | Acute intermittent porphyria |
| | Acute lymphoblastic leukemia |
| | Acute lymphoblastic leukemia congenital sporadic aniridia |
| | Acute lymphocytic leukemia |
| | Acute megakaryoblastic leukemia |
| | Acute monoblastic leukemia |
| | Acute myeloblastic leukemia type 1 |
| | Acute myeloblastic leukemia type 2 |
| | Acute myeloblastic leukemia type 3 |
| | Acute myeloblastic leukemia type 4 |
| | Acute myeloblastic leukemia type 5 |
| | Acute myeloblastic leukemia type 6 |
| | Acute myeloblastic leukemia type 7 |
| | Acute myeloblastic leukemia with maturation |
| | Acute myeloblastic leukemia without maturation |
| | Acute myelocytic leukemia |
| | Acute myelogenous leukemia |
| | Acute myeloid leukemia (generic term) |
| | Acute myeloid leukemia, secondary |
| | Acute myelomonocytic leukemia |
| | Acute necrotizing ulcerative gingivitis |
| | Acute non lymphoblastic leukemia (generic term) |
| | Acute posterior multifocal placoid pigment epitheliopathy |
| | Acute promyelocytic leukemia |
| | Acute respiratory distress syndrome |
| | Acyl-CoA dehydrogenase, medium chain, deficiency of |
| | Acyl-CoA dehydrogenase, short chain, deficiency of |
| | Acyl-CoA dehydrogenase, very long chain, deficiency of |
| | Acyl-CoA oxidase deficiency |
| | Adactylia unilateral dominant |
| | Adducted thumb club foot syndrome |
| | Adducted thumb syndrome recessive form |
| | Adducted thumbs Dundar type |
| | Adenine phosphoribosyltransferase deficiency |
| | Adenoma of the adrenal gland |
| | Adenosine deaminase deficiency |
| | Adenosine monophosphate deaminase deficiency |
| | Adenosine triphosphatase deficiency, anemia due to |
| | Adenylosuccinate lyase deficiency |
| | Adolescent benign focal crisis |
| | Adrenal adenoma, familial |
| | Adrenal gland hyperfunction |
| | Adrenal gland hypofunction |
| | Adrenal hyperplasia, congenital |
| | Adrenal hypoplasia congenital, X-linked |
| | Adrenal macropolyadenomatosis |
| | Adrenoleukodystrophy, X-linked |
| | Adrenoleukodystrophy, autosomal, neonatal form |
| | Adult onset Still's disease |
| | Adult spinal muscular atrophy |
| | Aganglionosis, total intestinal |
| | Agnathia holoprosencephaly situs inversus |
| | Agyria pachygyria polymicrogyria |
| | Ahumada-Del Castillo syndrome |
| | Aicardi-Goutieres syndrome |
| | Al Awadi Teebi Farag syndrome |
| | Al Frayh Facharzt Haque syndrome |
| | Al Gazali Al Talabani syndrome |
| | Al Gazali Aziz Salem syndrome |
| | Al Gazali Donnai Mueller syndrome |
| | Al Gazali Hirschsprung syndrome |
| | Al Gazali Khidr Prem Chandran syndrome |
| | Al Gazali Sabrinathan Nair syndrome |
| | Alagille-Watson syndrome (AWS) |
| | Alar nasal cartilages coloboma of telecanthus |
| | Albinism deafness syndrome |
| | Albinism immunodeficiency |
| | Albinism ocular late onset sensorineural deafness |
| | Albinism oculocutaneous, Hermansky-Pudlak type |
| | Albinism, minimal pigment type |
| | Albinism, yellow mutant type |
| | Albrecht Schneider Belmont syndrome |
| | Albright Turner Morgani syndrome |
| | Albright's hereditary osteodystrophy |
| | Alcohol antenatal infection |
| | Alcoholic liver cirrhosis |
| | Allain Babin Demarquez syndrome |
| | Allanson Pantzar McLeod syndrome |
| | Allergic autoimmune thyroiditis |
| | Allergic bronchopulmonary aspergillosis |
| | Allergic encephalomyelitis |
| | Aloi Tomasini Isaia syndrome |
| | Alopecia anosmia deafness hypogonadism syndrome |
| | Alopecia congenita keratosis palmoplantaris |
| | Alopecia contractures dwarfism mental retardation |
| | Alopecia epilepsy oligophrenia syndrome of Moynahan |
| | Alopecia hypogonadism extrapyramidal disorder |
| | Alopecia immunodeficiency |
| | Alopecia macular degeneration growth retardation |
| | Alopecia mental retardation hypogonadism |
| | Alopecia mental retardation syndrome |
| | Alopecia universalis onychodystrophy vitiligo |
| | Alopecia, epilepsy, pyorrhea, mental subnormality |
| | Alpha 1-antitrypsin deficiency |
| | Alpha-2 deficient collagen disease |
| | Alpha-L-iduronidase deficiency |
| | Alpha-ketoglutarate dehydrogenase deficiency |
| | Alpha-thalassemia-abnormal morphogenesis |
| | Alport syndrome macrothrombocytopenia |
| | Alport syndrome, dominant type |
| | Alport syndrome, recessive type |
| | Alternating hemiplegia of childhood |
| | Alveolar soft part sarcoma |
| | Alveolitis, extrinsic allergic |
| | Alves Dos Santos Castello syndrome |
| | Alzheimer disease, familial |
| | Amaurosis congenita of Leber |
| | Amaurosis congenita of Leber, type 1 |
| | Amaurosis congenita of Leber, type 2 |
| | Amegakaryocytic thrombocytopenia |
| | Amelia cleft lip palate hydrocephalus iris coloboma |
| | Amelia facial dysmorphism |
| | Amelogenesis Imperfecta hypomaturation type |
| | Amelogenesis imperfecta local hypoplastic form |
| | Amelogenesis imperfecta nephrocalcinosis |
| | Ameloonychohypohidrotic syndrome |
| | Anaplastic thyroid cancer |
| | Androgen insensitivity syndrome (AIS) |
| | Anemia sideroblastic spinocerebellar ataxia |
| | Anemia, Hypoplastic, Congenital |
| | Anencephaly spina bifida X linked |
| | Aneurysm of sinus of Valsalva |
| | Aneurysm, intracranial berry |
| | Angel shaped phalangoepiphyseal dysplasia |
| | Angiofollicular ganglionic hyperplasia |
| | Angiofollicular lymph hyperplasia |
| | Angioimmunoblastic lymphadenopathy with dysproteinemia |
| | Angiokeratoma mental retardation coarse face |
| | Angioma hereditary neurocutaneous |
| | Angiomatosis encephalotrigeminal |
| | Angiomatosis leptomeningeal capillary - venous |
| | Angiomatosis systemic cystic seip syndrome |
| | Angioneurotic edema hereditary due to C1 esterase deficiency |
| | Angiosarcoma of the liver |
| | Angiosarcoma of the scalp |
| | Angiotensin renin aldosterone hypertension |
| | Aniridia ataxia renal agenesis psychomotor retardation |
| | Aniridia cerebellar ataxia mental deficiency |
| | Aniridia mental retardation syndrome |
| | Aniridia ptosis mental retardation obesity familial |
| | Aniridia renal agenesis psychomotor retardation |
| | Ankle defects short stature |
| | Ankyloblepharon ectodermal defects cleft lip palate |
| | Ankyloblepharon filiforme adnatum cleft palate |
| | Ankyloblepharon filiforme imperforate anus |
| | Ankyloglossia heterochromia clasped thumbs |
| | Ankylosing spondylarthritis |
| | Ankylosing vertebral hyperostosis with tylosis |
| | Annular constricting bands |
| | Anonychia onychodystrophy |
| | Anonychia onychodystrophy brachydactyly type B |
| | Anophthalia pulmonary hypoplasia |
| | Anophthalmia Waardenburg syndrome |
| | Anophthalmia cleft lip palate hypothalamic disorder |
| | Anophthalmia cleft palate micrognathia |
| | Anophthalmia esophageal atresia cryptorchidism |
| | Anophthalmia megalocornea cardiopathy skeletal anomalies |
| | Anophthalmia microcephaly hypogonadism |
| | Anophthalmia plus syndrome |
| | Anophthalmia short stature obesity |
| | Anophthalmos with limb anomalies |
| | Anorectal atresia / Ano-rectal atresia |
| | Anotia facial palsy cardiac defect |
| | Ansell Bywaters Elderking syndrome |
| | Anterior pituitary insufficiency, familial |
| | Anti-HLA hyperimmunization |
| | Anti-factor VIII autoimmunization |
| | Anti-plasmin deficiency, congenital |
| | Antigen-peptide-transporter 2 deficiency |
| | Antihypertensive drugs antenatal infection |
| | Antinolo Nieto Borrego syndrome |
| | Antiphospholipid syndrome |
| | Antisocial personality disorder |
| | Antithrombin deficiency, congenital |
| | Aorta-pulmonary artery fistula |
| | Aortic arch anomaly peculiar facies mental retardation |
| | Aortic dissection lentiginosis |
| | Aortic supravalvular stenosis |
| | Aortic valves stenosis of the child |
| | Apert like polydactyly syndrome |
| | Aphalangia syndactyly microcephaly |
| | Aplasia cutis autosomal recessive |
| | Aplasia cutis congenita dominant |
| | Aplasia cutis congenita epibulbar dermoids |
| | Aplasia cutis congenita intestinal lymphangiectasia |
| | Aplasia cutis congenita of limbs recessive |
| | Aplasia cutis congenita recessive |
| | Aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits and nails |
| | Apolipoprotein C-II deficiency |
| | Apparent mineralocorticoid excess |
| | Appelt-Gerken-Lenz syndrome |
| | Apraxia, ocular motor, Cogan type |
| | Aqueductal stenosis, X linked |
| | Arachindonic acid, absence of |
| | Arachnodactyly ataxia cataract aminoaciduria mental retardation |
| | Arachnodactyly mental retardation dysmorphism |
| | Argininosuccinate synthetase deficiency |
| | Argininosuccinic aciduria |
| | Arhinia choanal atresia microphthalmia |
| | Arnold Stickler Bourne syndrome |
| | Arnold-Chiari malformation |
| | Aromatic amino acid decarboxylase deficiency |
| | Arrhythmogenic right ventricular dysplasia |
| | Arroyo Garcia Cimadevilla syndrome |
| | Arrythmogenic right ventricular dysplasia, familial |
| | Arterial calcification of infancy |
| | Arteriovenous malformation |
| | Arthritis short stature deafness |
| | Arthrogryposis IUGR thoracic dystrophy |
| | Arthrogryposis due to muscular dystrophy |
| | Arthrogryposis ectodermal dysplasia other anomalies |
| | Arthrogryposis epileptic seizures migrational brain disorder |
| | Arthrogryposis like disorder |
| | Arthrogryposis like hand anomaly sensorineural |
| | Arthrogryposis multiplex congenita |
| | Arthrogryposis multiplex congenita CNS calcification |
| | Arthrogryposis multiplex congenita distal |
| | Arthrogryposis multiplex congenita neurogenic type |
| | Arthrogryposis multiplex congenita pulmonary hypoplasia |
| | Arthrogryposis multiplex congenita whistling face |
| | Arthrogryposis multiplex congenita, distal type 1 |
| | Arthrogryposis multiplex congenita, distal type 2 |
| | Arthrogryposis multiplex congenita, distal, X-linked |
| | Arthrogryposis ophthalmoplegia retinopathy |
| | Arthrogryposis renal dysfunction cholestasis syndrome |
| | Arthrogryposis spinal muscular atrophy |
| | Arylsulfatase A deficiency |
| | Asymmetric septal hypertrophy |
| | Ataxia telangiectasia variant V1 |
| | Atelosteogenesis, type II |
| | Athabaskan brain stem dysgenesis |
| | Atresia of small intestine |
| | Atrioventricular septal defect |
| | Atrophoderma of Pierini and Pasini |
| | Attention Deficit Hyperactivity Disorder |
| | Ausems Wittebol Post Hennekam syndrome |
| | Autoimmune hemolytic anemia |
| | Autoimmune peripheral neuropathy |
| | Autoimmune polyendocrinopathy syndrome, type I |
| | Autonomic nervous system diseases |
| | Axial mesodermal dysplasia |
| | Axial mesodermal dysplasia spectrum |
| |