Filtering
- 2q37 Deletion Syndrome
- 3q29 Microdeletion Syndrome
- 5-Nucleotidase Syndrome
- 5q- Syndrome
- 15q13.3 Microdeletion Syndrome
- 16p11.2 Deletion Syndrome
- 16p11.2 Duplication
- 17q12 Deletion Syndrome
- 17q12 Duplication
- 21-hydroxylase Deficiency
- 22q11.2 Deletion Syndrome
- 22q13.3 Deletion Syndrome
- 47 XXX Syndrome
- 47, XYY Syndrome
- Abdominal Aortic Aneurysm
- Abdominal Obesity Metabolic Syndrome
- Abetalipoproteinemia
- Absent Patella
- Acanthamoeba Keratitis
- Acanthocheilonemiasis
- Aceruloplasminemia
- Achondroplasia
- Acinic Cell Carcinoma
- Acoustic Neuroma
- Acquired Hemophilia
- Acquired Hemophilia A
- Acquired Pure Red Cell Aplasia
- Acquired Von Willebrand Syndrome
- Acral Lentiginous Melanoma
- Acrodermatitis
- Acrodermatitis Enteropathica
- Acromegaly
- ACTH-independent Macronodular Adrenal Hyperplasia
- ACTH-secreting Pituitary Adenoma
- Actinic Cheilitis
- Acute Articular Rheumatism
- Acute Disseminated Encephalomyelitis
- Acute Erythroid Leukemia
- Acute Fatty Liver of Pregnancy
- Acute Flaccid Myelitis
- Acute Graft Versus Host Disease
- Acute Intermittent Porphyria
- Acute Interstitial Pneumonia
- Acute Leukemia of Ambiguous Lineage
- Acute Lymphoblastic Leukemia
- Acute Megakaryoblastic Leukemia
- Acute Monoblastic Leukemia
- Acute Mountain Sickness
- Acute Myeloblastic Leukemia With Maturation
- Acute Myeloblastic Leukemia Without Maturation
- Acute Myeloid Leukemia
- Acute Myelomonocytic Leukemia
- Acute Non Lymphoblastic Leukemia
- Acute Promyelocytic Leukemia
- Acute Respiratory Distress Syndrome
- Acute Zonal Occult Outer Retinopathy
- ADCY5-related Dyskinesia
- Addison's Disease
- Adenine Phosphoribosyltransferase Deficiency
- Adenocarcinoma of the Appendix
- Adenoid Cystic Carcinoma
- Adenoma of the Adrenal Gland
- Adenosine Deaminase Deficiency
- Adenosquamous Carcinoma of the Endometrium
- Adenylosuccinase Deficiency
- Adiposis Dolorosa
- ADNP Syndrome
- Adrenal Cancer
- Adrenocortical Carcinoma
- Adrenomyeloneuropathy
- Adult Neuronal Ceroid Lipofuscinosis
- Adult-onset Still's Disease
- Adult-onset Vitelliform Macular Dystrophy
- Adult Polyglucosan Body Disease
- ADULT Syndrome
- Adult T-cell Leukemia/lymphoma
- Afibrinogenemia
- Aggressive NK Cell Leukemia
- Agnosia
- Aicardi-Goutieres Syndrome
- Aicardi Syndrome
- AIDS Dementia Complex
- Alagille Syndrome
- AL Amyloidosis
- Albinism
- Albright's Hereditary Osteodystrophy
- Alexander Disease
- Alkaptonuria
- Allan-Herndon-Dudley Syndrome
- Allergic Angiitis
- Allergic Bronchopulmonary Aspergillosis
- Allergic Encephalomyelitis
- Alopecia Totalis
- Alopecia Universalis
- Alpers Syndrome
- Alpha-1 Antitrypsin Deficiency
- Alpha-mannosidosis
- Alpha-thalassemia
- Alport Syndrome
- Alström Syndrome
- Alternating Hemiplegia of Childhood
- Alveolar Echinococcosis
- Alveolar Soft Part Sarcoma
- Alzheimer Disease Type 1
- Alzheimer Disease Type 2
- Alzheimer Disease Type 3
- Alzheimer Disease Type 4
- Amaurosis Fugax
- Amebiasis
- Ameloblastoma
- Amelogenesis Imperfecta
- AML With Myelodysplasia-related Features
- Amniotic Band Syndrome
- Amyloid Neuropathy
- Amyloidosis AA
- Amyloidosis Beta2M
- Amyopathic Dermatomyositis
- Amyotrophic Lateral Sclerosis
- Amyotrophic Lateral Sclerosis Type 4
- Amyotrophic Lateral Sclerosis Type 11
- Anal Cancer
- Anaplastic Astrocytoma
- Anaplastic Ependymoma
- Anaplastic Ganglioglioma
- Anaplastic Large Cell Lymphoma
- Anaplastic Oligoastrocytoma
- Anaplastic Oligodendroglioma
- Anaplastic Pleomorphic Xanthoastrocytoma
- Anaplastic Thyroid Cancer
- ANCA-associated Vasculitis
- Ancylostomiasis
- Andersen-Tawil Syndrome
- Androgen Insensitivity Syndrome
- Anencephaly
- Aneurysmal Bone Cysts
- Angelman Syndrome
- Angioimmunoblastic Lymphadenopathy With Dysproteinemia
- Angioimmunoblastic T-cell Lymphoma
- Angiosarcoma of the Liver
- Angiostrongyliasis
- Aniridia
- Aniridia - Ptosis - Intellectual Disability - Familial Obesity
- Anisakiasis
- Ankylosing Vertebral Hyperostosis With Tylosis
- Ankylosis of Teeth
- Anodontia
- Anorchia
- Anterior Ischemic Optic Neuropathy
- Anterior Uveitis
- Anthrax
- Antiphospholipid Syndrome
- Antisynthetase Syndrome
- Aortic Arch Interruption
- Aortic Coarctation
- Aortic Valve Stenosis
- Aortopulmonary Window
- Aphthous Stomatitis
- Aplasia Cutis Congenita
- Aplastic Anemia
- Apocrine Carcinoma
- Apparent Mineralocorticoid Excess
- Apraxia
- Aquagenic Pruritus
- Arachnoid Cysts
- Arachnoiditis
- Arginase Deficiency
- Argininosuccinic Aciduria
- Aromatic L-amino Acid Decarboxylase Deficiency
- Arrhinia
- Arrhythmogenic Right Ventricular Cardiomyopathy
- Arterial Calcification and Distal Joint Calcification
- Arterial Calcification of Infancy
- Arterial Tortuosity Syndrome
- Arthrogryposis Multiplex Congenita
- Asbestosis
- Asherman's Syndrome
- Aspartylglycosaminuria
- Aspergillosis
- Asphyxia Neonatorum
- Ataxia Telangiectasia
- Ataxia With Oculomotor Apraxia Type 1
- Ataxia With Oculomotor Apraxia Type 2
- Ataxia With Vitamin E Deficiency
- Atransferrinemia
- Atrial Myxoma, Familial
- Atrioventricular Septal Defect
- Attenuated Familial Adenomatous Polyposis
- Atypical Hemolytic Uremic Syndrome
- Auditory Neuropathy Spectrum Disorder
- Autoimmune Autonomic Ganglionopathy
- Autoimmune Encephalitis
- Autoimmune Enteropathy
- Autoimmune Gastrointestinal Dysmotility
- Autoimmune Hemolytic Anemia
- Autoimmune Hepatitis
- Autoimmune Inner Ear Disease
- Autoimmune Lymphoproliferative Syndrome
- Autoimmune Pancreatitis
- Autoimmune Polyglandular Syndrome Type 1
- Autoimmune Pulmonary Alveolar Proteinosis