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• Abdominal Aortic Aneurysm
• Abdominal Obesity Metabolic Syndrome
• Abetalipoproteinemia
• Abrikosov's Tumor
• Absent T Lymphocytes
• Acanthocheilonemiasis
• Acanthocytosis
• Acanthosis Nigricans
• Achalasia
• Achondroplasia
• Acinic Cell Carcinoma
• Acoustic Neuroma
• Acquired Fructose Intolerance
• Acquired Hemophilia
• Acquired Von Willebrand Syndrome
• Acral Lentiginous Melanoma
• Acromegaly
• Actinic Cheilitis
• Acute Articular Rheumatism
• Acute Biphenotypic Leukemia
• Acute Disseminated Encephalomyelitis
• Acute Erythroblastic Leukemia
• Acute Erythroid Leukemia
• Acute Graft Versus Host Disease
• Acute Intermittent Porphyria
• Acute Lymphoblastic Leukemia
• Acute Lymphoblastic Leukemia, Childhood
• Acute Megakaryoblastic Leukemia
• Acute Monoblastic Leukemia
• Acute Mountain Sickness
• Acute Myeloblastic Leukemia With Maturation
• Acute Myeloblastic Leukemia Without Maturation
• Acute Myelocytic Leukemia
• Acute Myeloid Leukemia, Adult
• Acute Myeloid Leukemia, Childhood
• Acute Myelomonocytic Leukemia
• Acute Non Lymphoblastic Leukemia
• Acute Promyelocytic Leukemia
• Acute Respiratory Distress Syndrome
• Addison's Disease
• Adenine Phosphoribosyltransferase Deficiency
• Adenocarcinoma of Lung
• Adenocarcinoma of the Appendix
• Adenoid Cystic Carcinoma
• Adenoma of the Adrenal Gland
• Adenomyosis
• Adenosine Deaminase Deficiency
• Adrenal Cancer
• Adrenocortical Carcinoma
• Adrenoleukodystrophy X-linked
• Adrenomyeloneuropathy
• Adult Neuronal Ceroid Lipofuscinosis
• Afibrinogenemia
• Aggressive NK Cell Leukemia
• Aicardi Syndrome
• AIDS Dementia Complex
• AL Amyloidosis
• Alagille Syndrome
• Albinism
• Albright's Hereditary Osteodystrophy
• Alkaptonuria
• Allergic Bronchopulmonary Aspergillosis
• Alpha 1-antitrypsin Deficiency
• Alpha-Thalassemia
• Alport Syndrome
• Alstrom Syndrome
• Alternating Hemiplegia of Childhood
• Alveolar Echinococcosis
• Alveolar Soft Part Sarcoma
• Alveolitis, Extrinsic Allergic
• Alzheimer Disease Familial
• Alzheimer Disease Type 2
• Amaurosis Fugax
• Amebiasis
• Amelogenesis Imperfecta
• Amyloid Neuropathy
• Amyloidosis AA
• Amyloidosis Cerebral
• Amyotrophic Lateral Sclerosis
• Anal Cancer
• Anaplastic Astrocytoma
• Anaplastic Ependymoma
• Anaplastic Large Cell Lymphoma
• Anaplastic Oligoastrocytoma
• Anaplastic Oligodendroglioma
• Anaplastic Plasmacytoma
• Ancylostomiasis
• Andersen-Tawil Syndrome
• Anencephaly
• Angelman Syndrome
• Angiofollicular Lymph Hyperplasia
• Angioimmunoblastic Lymphadenopathy With Dysproteinemia
• Angiomatous Lymphoid Hamartoma
• Aniridia
• Anodontia
• Anorectal Atresia
• Anterior Uveitis
• Anthrax
• Antiphospholipid Syndrome
• Antisocial Personality Disorder
• Antisynthetase Syndrome
• Aortic Coarctation
• Aortic Valve Stenosis
• Aphthous Stomatitis
• Aplasia Cutis Congenita
• Aplastic Anemia
• Apparent Mineralocorticoid Excess
• Apraxia
• Arachnoiditis
• Arginase Deficiency
• Argininosuccinic Aciduria
• Aromatic Amino Acid Decarboxylase Deficiency
• Arrhythmogenic Right Ventricular Dysplasia
• Arterial Calcification Due to CD73 Deficiency
• Arthrogryposis Multiplex Congenita
• Asbestosis
• Asherman's Syndrome
• Aspartylglycosaminuria
• Aspergillosis
• Asphyxia Neonatorum
• Ataxia Telangiectasia
• Atrial Myxoma, Familial
• Atrioventricular Septal Defect
• Attenuated Familial Adenomatous Polyposis
• Atypical Hemolytic Uremic Syndrome
• Auditory Neuropathy
• Auditory Perceptual Disorder
• Autoimmune Enteropathy
• Autoimmune Hemolytic Anemia
• Autoimmune Hepatitis
• Autoimmune Inner Ear Disease
• Autoimmune Lymphoproliferative Syndrome
• Autoimmune Pancreatitis
• Autosomal Dominant Partial Epilepsy With Auditory Features
• Autosomal Recessive Hyper IgE Syndrome
• Autosomal Recessive Polycystic Kidney Disease
• B Cell Prolymphocytic Leukemia
• B-cell Lymphomas
• Babesiosis
• Bacterial Meningitis
• Balo Disease
• Balo's Concentric Sclerosis
• Bardet-Biedl Syndrome
• Bare Lymphocyte Syndrome
• Bare Lymphocyte Syndrome 2
• Barraquer-Simons Syndrome
• Barth Syndrome
• Bartter Syndrome
• Basal Cell Carcinoma, Multiple
• Basilar Migraine
• Batten Disease
• Becker Muscular Dystrophy
• Becker's Nevus
• Behcet's Disease
• Bell's Palsy
• Benign Paroxysmal Positional Vertigo
• Berger Disease
• Beriberi
• Berylliosis
• Best Vitelliform Macular Dystrophy
• Beta-galactosidase-1 Deficiency
• Beta-thalassemia
• Bethlem Myopathy
• Bile Duct Cancer
• Biliary Tract Cancer
• Biotinidase Deficiency
• Birdshot Chorioretinopathy
• Birt-Hogg-Dube Syndrome
• BK-virus Nephropathy
• Blastic Plasmacytoid Dendritic Cell
• Blastoma
• Blastomycosis
• Blepharospasm
• Bloom Syndrome
• Bone Cancer
• Botulism
• Bourneville Syndrome
• Bowen's Disease
• Brain Stem Glioma, Childhood
• Brain Tumor, Adult
• Brain Tumor, Childhood
• Breast Cancer, Male
• Brenner Tumor of Ovary
• Brittle Cornea Syndrome
• Bronchiolitis Obliterans
• Bronchiolitis Obliterans Organizing Pneumonia
• Bronchopulmonary Dysplasia
• Brown-Sequard Syndrome
• Brucellosis
• Brugada Syndrome
• Budd-Chiari Syndrome
• Buerger Disease
• Bullous Pemphigoid
• Burkitt Lymphoma
• Burnett Schwartz Berberian Syndrome
• Buruli Ulcer
• CADASIL
• Calciphylaxis
• Camurati-Engelmann Disease
• Canavan Disease
• Capillary Hemangioblastoma
• Carbamoyl Phosphate Synthetase 1 Deficiency
• Carcinoid Syndrome
• Carcinoid Tumor
• Cardiospasm
• Carney Complex
• Carnitine Palmitoyltransferase 2 Deficiency
• Caroli Disease
• Castleman's Disease
• Cat Scratch Disease
• Catastrophic Antiphospholipid Syndrome
• Central Centrifugal Cicatricial Alopecia
• Central Core Disease
• Central Nervous System Lymphoma, Primary
• Central Post-stroke Pain
• Central Serous Chorioretinopathy
• Cerebellar Astrocytoma, Childhood
• Cerebellar Degeneration
• Cerebral Astrocytoma, Childhood
• Cerebral Cavernous Malformation
• Cerebral Palsy Spastic Diplegic
• Cerebral Palsy Spastic Hemiplegic
• Cerebrospinal Fluid Leak
• Cerebrotendinous Xanthomatosis
• Ceroid Storage Disease
• Cervical Dystonia
• Cervical Intraepithelial Neoplasia
• Chagas Disease
• Chanarin-Dorfman Syndrome
• Chandler's Syndrome
• Charcot-Marie-Tooth Disease
• Charcot-Marie-Tooth Disease Type 1A
• Chediak-Higashi Syndrome
• Cherubism
• Chiari Malformation Type 2
• Chikungunya
• CHILD Syndrome
• Childhood Disintegrative Disorder
• Childhood-Onset Schizophrenia
• Cholecystitis
• Cholera
• Cholestasis, Progressive Familial Intrahepatic 3
• Cholesteatoma
• Chondrocalcinosis 2
• Chondrosarcoma
• Chordoma
• Chorea Minor
• Choreoacanthocytosis
• Choriocarcinoma
• Chorioretinitis
• Choroid Plexus Carcinoma
• Choroideremia
• Choroiditis
• Chromophil Renal Cell Carcinoma
• Chromosomal Triplication
• Chromosome 17p Deletion
• Chromosome 5q Deletion
• Chronic Active Epstein-Barr Virus Infection
• Chronic Berylliosis
• Chronic Graft Versus Host Disease
• Chronic Granulomatous Disease
• Chronic Infantile Neurological Cutaneous Articular Syndrome
• Chronic Inflammatory Demyelinating Polyneuropathy
• Chronic Lymphocytic Leukemia
• Chronic Myeloid Leukemia
• Chronic Myelomonocytic Leukemia
• Chronic Myeloproliferative Disorders
• Chronic Neutrophilic Leukemia
• Churg Strauss Syndrome
• Chylothorax, Congenital
• Cicatricial Pemphigoid
• Citrullinemia Type I
• Classic Kaposi Sarcoma
• Clear Cell Renal Cell Carcinoma
• CLIPPERS
• Clostridium Difficile
• Clostridium Sordellii
• Cluster Headache
• COACH Syndrome
• Coal Worker's Pneumoconiosis
• Coats Disease
• Coccidioidomycosis
• Cockayne Syndrome
• Cogan's Syndrome
• Cold Agglutinin Disease
• Cold Contact Urticaria
• Collagenous Colitis
• Collecting Duct Carcinoma
• Combined Malonic and Methylmalonic Aciduria
• Common Variable Immunodeficiency
• Compartment Syndrome
• Complete Atrioventricular Canal
• Complex Regional Pain Syndrome
• Cone-rod Dystrophy
• Cone-rod Dystrophy 2
• Congenital Adrenal Hyperplasia
• Congenital Amegakaryocytic Thrombocytopenia
• Congenital Antithrombin Deficiency
• Congenital Aplastic Anemia
• Congenital Central Hypoventilation Syndrome
• Congenital Cytomegalovirus
• Congenital Diaphragmatic Hernia
• Congenital Dyserythropoietic Anemia
• Congenital Dyserythropoietic Anemia Type 1
• Congenital Fiber Type Disproportion
• Congenital Heart Block
• Congenital Hemolytic Anemia
• Congenital Hepatic Fibrosis
• Congenital Herpes Simplex
• Congenital Hypothyroidism
• Congenital Muscular Dystrophy
• Congenital Muscular Dystrophy Type 1A
• Congenital Porphyria
• Congenital Torticollis
• Conn's Syndrome
• Conotruncal Heart Malformations
• Conversion Disorder
• Coronary Artery Aneurysm
• Corticobasal Degeneration
• Cowden Syndrome
• Craniofacial Dystonia
• Craniofrontonasal Dysplasia
• Craniopharyngioma
• Craniosynostosis
• CREST Syndrome
• Creutzfeldt-Jakob Disease
• Crouzon Syndrome
• Cryoglobulinemia
• Cryopyrin-associated Periodic Syndrome
• Cryptococcosis
• Cryptogenic Organizing Pneumonia
• Cryptosporidiosis
• Currarino Triad
• Cushing's Syndrome
• Cutaneous Lupus Erythematosus
• Cutaneous Mastocytosis
• Cutaneous Sclerosis
• Cutaneous T-cell Lymphoma
• Cutis Laxa
• Cyclic Vomiting Syndrome
• Cystic Adenomatoid Malformation of Lung
• Cystic Fibrosis
• Cystic Hygroma
• Cysticercosis
• Cystinosis
• Cystinuria
• Cystosarcoma Phyllodes
• Cytomegalic Inclusion Disease
• Cytomegalovirus Retinitis
• Dancing Eyes-dancing Feet Syndrome
• Darier Disease
• Dendritic Cell, Monocyte, B Lymphocyte, and Natural Killer Lymphocyte Deficie...
• Dengue Fever
• Denys-Drash Syndrome
• Depersonalization Disorder
• Dermatofibroma
• Dermatofibrosarcoma Protuberans
• Dermatomyositis
• Desmoid Tumor
• Desmoplastic Small Round Cell Tumor
• Devic Disease
• Dextrocardia
• Di Guglielmo's Syndrome
• Diamond-Blackfan Anemia
• Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
• DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome
• Diffuse Astrocytoma
• Diffuse Gastric Cancer
• Diffuse Scleroderma
• Diffuse Systemic Sclerosis
• Dihydroxyadeninuria
• Dilated Cardiomyopathy
• Dilated Cardiomyopathy With Hypergonadotropic Hypogonadism
• Diphtheria
• Dominant Ichthyosis Vulgaris
• Donnai-Barrow Syndrome
• Dopamine Beta Hydroxylase Deficiency
• Double Outlet Right Ventricle
• Dravet Syndrome
• Dubin-Johnson Syndrome
• Duchenne Muscular Dystrophy
• Duhring Brocq Disease
• Dysequilibrium Syndrome
• Dysferlinopathy
• Dyskeratosis Congenita
• Dyskinesia, Drug Induced
• Dystonia 11
• Dystonia 12
• Dystrophic Epidermolysis Bullosa
• Dystrophinopathy
• Eales Disease
• Eastern Equine Encephalitis
• Ebola Virus Disease
• Ebstein's Anomaly
• Eccentrochondrodysplasia
• Eclampsia
• Ectodermal Dysplasia
• Ectopic Pregnancy
• Ehlers-Danlos Syndrome
• Eisenmenger Syndrome
• Elective Mutism
• Embryonal Carcinoma
• Endemic Kaposi Sarcoma
• Endolymphatic Sac Tumor
• Endometrial Stromal Sarcoma
• Endomyocardial Fibrosis
• Enlarged Vestibular Aqueduct Syndrome
• Enteropathy-associated T-cell Lymphoma
• Eosinophilia-myalgia Syndrome
• Eosinophilic Enteropathy
• Eosinophilic Fasciitis
• Ependymoblastoma
• Ependymoma
• Epidermodysplasia Verruciformis
• Epidermolysis Bullosa
• Epidermolysis Bullosa Acquisita
• Epidermolysis Bullosa Simplex
• Epilepsy Juvenile Absence
• Epileptic Encephalopathy Lennox-Gastaut Type
• Episodic Ataxia
• Episodic Ataxia With Nystagmus
• Epithelial-myoepithelial Carcinoma
• Epithelioid Sarcoma
• Erdheim-Chester Disease
• Erysipelas
• Erythromelalgia
• Erythroplakia
• Erythropoietic Protoporphyria
• Esophageal Atresia
• Esophageal Cancer
• Esophageal Varices
• Esotropia
• Essential Thrombocythemia
• Essential Tremor
• Esthesioneuroblastoma
• Evans Syndrome
• Ewing's Family of Tumors
• Ewing's Sarcoma
• Exercise Induced Anaphylaxis
• Exfoliative Dermatitis
• Exstrophy of the Bladder
• Extracranial Germ Cell Tumor, Childhood
• Extragonadal Germ Cell Tumor
• Fabry Disease
• Facioscapulohumeral Muscular Dystrophy
• Factor VII Deficiency
• Factor X Deficiency
• Factor XIII Deficiency
• Fallopian Tube Cancer
• Familial Adenomatous Polyposis
• Familial Cold Autoinflammatory Syndrome
• Familial Colorectal Cancer
• Familial Dysautonomia
• Familial Encephalopathy With Neuroserpin Inclusion Bodies
• Familial Exudative Vitreoretinopathy
• Familial HDL Deficiency
• Familial Hemiplegic Migraine
• Familial Hemiplegic Migraine Type 1
• Familial Hyperinsulinism
• Familial Hypertrophic Cardiomyopathy
• Familial Isolated Hyperparathyroidism
• Familial Isolated Pituitary Adenoma
• Familial Mediterranean Fever
• Familial Prostate Cancer
• Familial Thoracic Aortic Aneurysm and Dissection
• Familial Transthyretin Amyloidosis
• Fanconi Anemia
• Fanconi Bickel Syndrome
• Fanconi Renotubular Syndrome
• Fatal Familial Insomnia
• Felty's Syndrome
• Fetal Alcohol Spectrum Disorders
• Fetal Edema
• Fetal Macrosomia
• Fibrinogen Deficiency, Congenital
• Fibrosarcoma
• Fibrous Dysplasia
• Focal Dermal Hypoplasia
• Focal Dystonia
• Focal Facial Dermal Dysplasia
• Follicular Lymphoma
• Formaldehyde Poisoning
• Fournier Gangrene
• Fragile X Syndrome
• Frambesia Tropica
• Fraser Syndrome
• Frasier Syndrome
• Freeman Sheldon Syndrome
• Frey's Syndrome
• Friedreich Ataxia
• Frontotemporal Dementia
• Fryns Syndrome
• Fucosidosis
• Galactorrhoea-Hyperprolactinaemia
• Galactose Epimerase Deficiency
• Galactosemia
• Galactosialidosis
• Gall Bladder Cancer
• Ganglioglioma
• Gardner Syndrome
• Gastric Lymphoma
• Gastro-enteropancreatic Neuroendocrine Tumor
• Gastrointestinal Stromal Tumors
• Gastroschisis
• Gaucher Disease
• Gaucher Disease Type 1
• Gaucher Disease Type 2
• Gaucher Disease Type 3
• Gelatinous Ascites
• Genital Dwarfism
• Geographic Tongue
• Germinoma
• Gestational Trophoblastic Tumor
• Giant Axonal Neuropathy
• Giant Cell Arteritis
• Giant Cell Myocarditis
• Giant Papillary Conjunctivitis
• Gigantism
• Gigantomastia
• Gitelman Syndrome
• Glanzmann Thrombasthenia
• Glaucoma 3 Primary Infantile B
• Glaucoma, Congenital
• Glioblastoma
• Glioma
• Gliomatosis Cerebri
• Gliosarcoma
• Glomerulonephritis
• Glucagonoma
• Glucagonoma Syndrome
• Glucocorticoid-remediable Aldosteronism
• Glucose-6-phosphate Dehydrogenase Deficiency
• Glycogen Storage Disease Type 2
• Glycogen Storage Disease Type 3
• Glycogen Storage Disease Type 4
• GM1 Gangliosidosis
• Gonadal Dysgenesis
• Granulocytopenia
• Granuloma Annulare
• Granulosa Cell Tumor of the Ovary
• Graves' Disease
• Gray Platelet Syndrome
• Griscelli Syndrome
• Growth Hormone Deficiency
• Guillain-Barre Syndrome
• Gyrate Atrophy of Choroid and Retina
• Haemophilus Influenzae
• Hailey-Hailey Disease
• Hairy Cell Leukemia
• Hand-Schuller-Christian Disease
• Hansen's Disease
• Hantavirus Pulmonary Syndrome
• Heart Tumor
• Heavy Metal Poisoning
• HELLP Syndrome
• Helminthiasis
• Hemangioblastoma
• Hemangioendothelioma
• Hemangiopericytoma
• Hemifacial Microsomia
• Hemiplegia
• Hemiplegic Migraine
• Hemoglobin C Disease
• Hemoglobin SC Disease
• Hemolytic Uremic Syndrome
• Hemophagocytic Lymphohistiocytosis
• Hemophilia
• Hemophilia A, Acquired
• Hemophilia A, Congenital
• Hemophilia B
• Hemophilic Arthropathy
• Hemorrhagic Fever
• Hemosiderosis
• Henoch-Schonlein Purpura
• Heparin-induced Thrombocytopenia
• Hepatic Encephalopathy
• Hepatitis E
• Hepatoblastoma
• Hepatocellular Carcinoma (fibrolamellar Variant)
• Hepatocellular Carcinoma, Childhood
• Hepatorenal Syndrome
• Hereditary Amyloidosis
• Hereditary Angioedema
• Hereditary Ataxia
• Hereditary Coproporphyria
• Hereditary Elliptocytosis
• Hereditary Fructose Intolerance
• Hereditary Hemorrhagic Telangiectasia
• Hereditary Hyperuricemia
• Hereditary Multiple Osteochondromas
• Hereditary Neuropathy With Liability to Pressure Palsy
• Hereditary Pancreatitis
• Hereditary Spastic Paraplegia
• Hereditary Spherocytosis
• Hermansky-Pudlak Syndrome
• Herpes Simplex Encephalitis
• Herpes Zoster Ophthalmicus
• Herpetic Keratitis
• Heterotaxy
• Hirschsprung's Disease
• His Bundle Tachycardia
• Hodgkin Lymphoma
• Hodgkin Lymphoma, Childhood
• Holoprosencephaly
• Homocysteinemia
• Homocystinuria
• Homologous Wasting Disease
• Hoyeraal Hreidarsson Syndrome
• HTLV-1 Associated Myelopathy/tropical Spastic Paraparesis
• Human T-cell Leukemia Virus Type 1
• Human T-cell Leukemia Virus Type 2
• Hunter-McAlpine Syndrome
• Huntington Disease
• Hurthle Cell Thyroid Cancer
• Hydatidiform Mole
• Hydatidosis
• Hydrocephalus
• Hydrops Fetalis
• Hyper IgE Syndrome
• Hyper-IgD Syndrome
• Hyperacusis
• Hyperadrenalism
• Hypereosinophilic Syndrome
• Hyperlipidemia Type 3
• Hyperlipoproteinemia Type 1
• Hyperlipoproteinemia Type 2
• Hyperlipoproteinemia Type 5
• Hyperparathyroidism, Primary
• Hypersensitivity Vasculitis
• Hypoadrenalism
• Hypoaldosteronism
• Hypochondroplasia
• Hypocomplementemic Urticarial Vasculitis
• Hypohidrotic Ectodermal Dysplasia
• Hypokalemic Periodic Paralysis
• Hypolipoproteinemia
• Hypomagnesemia Primary
• Hypomelanotic Disorder
• Hypoparathyroidism
• Hypopharyngeal Cancer
• Hypophosphatasia
• Hypophosphatemic Rickets
• Hypopituitarism
• Hypoplastic Left Heart Syndrome
• Hypoplastic Right Heart Syndrome
• I Cell Disease
• IBIDS Syndrome
• Ichthyosis Linearis Circumflexa
• Ichthyosis Vulgaris
• Idiopathic Adolescent Scoliosis
• Idiopathic Myopathy
• Idiopathic Pulmonary Fibrosis
• Idiopathic Pulmonary Hemosiderosis
• Idiopathic Pulmonary Hypertension
• Idiopathic Thrombocytopenic Purpura
• Immune Thrombocytopenia
• Immunodeficiency With Hyper IgM Type 1
• Inborn Amino Acid Metabolism Disorder
• Inclusion Body Myopathy 2
• Inclusion Body Myositis
• Inclusion Conjunctivitis
• Incontinentia Pigmenti
• Indolent B Cell Lymphoma
• Infantile Apnea
• Infantile Scoliosis
• Infantile-onset Ascending Hereditary Spastic Paralysis
• Infectious Arthritis
• Infective Endocarditis
• Inflammatory Breast Cancer
• Inflammatory Myofibroblastic Tumor
• Insulin-like Growth Factor I Deficiency
• Insulinoma
• Intestinal Pseudo-obstruction
• Intracranial Arteriovenous Malformation
• Intrahepatic Cholangiocarcinoma
• Intrahepatic Cholestasis of Pregnancy
• Intraocular Melanoma
• Intrauterine Infections
• Intravenous Leiomyomatosis
• Iridocorneal Endothelial Syndrome
• Isaac's Syndrome
• Isolated ACTH Deficiency
• Japanese Encephalitis
• Jeune Syndrome
• Joubert Syndrome
• Joubert Syndrome With Oculorenal Anomalies
• Junctional Epidermolysis Bullosa
• Juvenile Dermatomyositis
• Juvenile Huntington Disease
• Juvenile Myelomonocytic Leukemia
• Juvenile Myoclonic Epilepsy
• Juvenile Osteoporosis
• Juvenile Retinoschisis
• Kabuki Syndrome
• Kallmann Syndrome
• Kallmann Syndrome 3
• Kaposiform Hemangioendothelioma
• Kartagener Syndrome
• Kawasaki Syndrome
• Kennedy Disease
• Keratoconus
• Keratomalacia
• Keratosis, Seborrheic
• Kernicterus
• Kidney Cancer
• Kikuchi Disease
• Klatskin Tumor
• Klebsiella
• Klinefelter Syndrome
• Klippel-Trenaunay Syndrome
• Krabbe Leukodystrophy
• Krukenberg Carcinoma
• KSHV Inflammatory Cytokine Syndrome
• Lactate Dehydrogenase A Deficiency
• Lafora Disease
• Lambert Eaton Myasthenic Syndrome
• Lamellar Ichthyosis
• Landau-Kleffner Syndrome
• Langerhans Cell Histiocytosis
• Large B Cell Diffuse Lymphoma
• Large Granular Lymphocyte Leukemia
• Laron Syndrome
• Laryngeal Cancer
• Laryngeal Cleft
• Laryngeal Papillomatosis
• Laryngomalacia
• Lassueur-Graham-Little Syndrome
• LCAD Deficiency
• LCHAD Deficiency
• Leber Congenital Amaurosis
• Leber Congenital Amaurosis 2
• Leber Hereditary Optic Neuropathy
• Leber Miliary Aneurysm
• Left Ventricular Noncompaction
• Legg-Calve-Perthes Disease
• Legionellosis
• Leigh Syndrome
• Leiner Disease
• Leiomyomatosis and Renal Cell Cancer, Hereditary
• Leiomyosarcoma
• Leishmaniasis
• Lentigo Maligna Melanoma
• Leptospirosis
• Lesch Nyhan Syndrome
• Leukemia, B-cell, Chronic
• Leukemia, Myeloid
• Leukemia, T-cell, Chronic
• Leukodystrophy
• Leukomalacia
• Leukoplakia
• Levator Syndrome
• Lewy Body Dementia
• Li-Fraumeni Syndrome
• Lichen Planus Follicularis
• Lichen Sclerosus
• Liddle Syndrome
• Light Chain Deposition Disease
• Limb-girdle Muscular Dystrophy
• Limb-girdle Muscular Dystrophy Type 2H
• Limb-girdle Muscular Dystrophy, Type 2A
• Limb-girdle Muscular Dystrophy, Type 2B
• Limb-girdle Muscular Dystrophy, Type 2C
• Limbic Encephalitis
• Lip and Oral Cavity Cancer
• Lipodystrophy
• Lipogranulomatosis
• Liposarcoma
• Listeria Infection
• Liver Cancer
• Localized Scleroderma
• Locked-in Syndrome
• Loeys-Dietz Syndrome
• Logopenic Progressive Aphasia
• Loiasis
• Long QT Syndrome 1
• Lowe Oculocerebrorenal Syndrome
• Lupus Nephritis
• Lymph Node Neoplasm
• Lymphangiectasis
• Lymphangioleiomyomatosis
• Lymphangioma
• Lymphangiomatosis
• Lymphatic Filariasis
• Lymphoblastic Lymphoma
• Lymphocytic Colitis
• Lymphoma AIDSrelated
• Lymphoma, Large-cell
• Lymphoma, Large-cell, Immunoblastic
• Lymphoma, Small Cleaved-cell, Diffuse
• Lymphoma, Small Cleaved-cell, Follicular
• Lymphomatoid Granulomatosis
• Lymphomatoid Papulosis
• Lymphomatous Thyroiditis
• Lymphosarcoma
• Lynch Syndrome
• Malaria
• Malignant Fibrous Histiocytoma
• Malignant Germ Cell Tumor
• Malignant Hyperthermia
• Malignant Mesenchymal Tumor
• Malignant Mesothelioma
• Malignant Mixed Mullerian Tumor
• Malignant Peripheral Nerve Sheath Tumor
• Malonyl-CoA Decarboxylase Deficiency
• Mansonelliasis
• Mantle Cell Lymphoma
• Maple Syrup Urine Disease
• Marburg Hemorrhagic Fever
• Marfan Syndrome
• Mastocytosis
• Maternal Hyperphenylalaninemia
• Maturity-onset Diabetes of the Young
• McCune Albright Syndrome
• Measles
• Meckel Syndrome
• Meconium Aspiration Syndrome
• Medullary Cystic Kidney Disease
• Medulloblastoma
• Medulloblastoma, Childhood
• Melanoma, Familial
• Meliodosis
• Membranoproliferative Glomerulonephritis Type 2
• Membranous Nephropathy
• Menetrier Disease
• Meningioma
• Meningococcal Infection
• Meningococcemia
• Menkes Disease
• Mercury Poisoning
• Merkel Cell Carcinoma
• Metachromatic Leukodystrophy
• Metastatic Squamous Neck Cancer With Occult Primary
• Methionine Adenosyltransferase Deficiency
• Methylmalonic Acidemia
• Mevalonic Aciduria
• Microcephaly
• Microencephaly
• Microscopic Polyangiitis
• Microsporidiosis
• Midline Lethal Granuloma
• Miller-Fisher Syndrome
• Milroy Disease
• Minimal Change Disease
• Mitochondrial Neurogastrointestinal Encephalopathy Syndrome
• Mitochondrial Trifunctional Protein Deficiency
• Mixed Connective Tissue Disease
• Miyoshi Myopathy
• Moebius Syndrome
• Molybdenum Cofactor Deficiency
• Mondini Dysplasia
• Mondor Disease
• Monkeypox
• Monoclonal Gammopathy of Undetermined Significance
• Montefiore Syndrome
• Morphea
• Morquio Syndrome A
• Morvan's Fibrillary Chorea
• Motor Neuro-ophthalmic Disorders
• Moyamoya Disease
• Muckle-Wells Syndrome
• Mucoepidermoid Carcinoma
• Mucopolysaccharidosis
• Mucopolysaccharidosis Type I
• Mucopolysaccharidosis Type II
• Mucopolysaccharidosis Type III
• Mucopolysaccharidosis Type IIIA
• Mucopolysaccharidosis Type IIIB
• Mucopolysaccharidosis Type VI
• Mucopolysaccharidosis Type VII
• Muenke Syndrome
• Multicore Disease
• Multifocal Choroiditis
• Multifocal Lymphangioendotheliomatosis With Thrombocytopenia
• Multiple Endocrine Neoplasia Type 1
• Multiple Endocrine Neoplasia Type 2
• Multiple Endocrine Neoplasia Type 2A
• Multiple Endocrine Neoplasia Type 2B
• Multiple Myeloma
• Multiple System Atrophy
• Multiple System Atrophy (MSA) With Orthostatic Hypotension
• Mumps
• Muscle Eye Brain Disease
• Muscular Dystrophy
• Myasthenia Gravis
• Mycobacterium Abscessus
• Mycobacterium Avium Complex
• Mycobacterium Xenopi
• Mycoplasmal Pneumonia
• Mycosis Fungoides
• Myelitis
• Myelodysplastic Syndromes
• Myelodysplastic/myeloproliferative Disease
• Myelofibrosis
• Myelomeningocele
• MYH9 Related Thrombocytopenia
• Myocarditis
• Myoclonus Epilepsy
• Myopathy Congenital
• Myotonia Atrophica
• Myotonic Dystrophy
• Myotonic Dystrophy Type 1
• Myotubular Myopathy
• Myxoid Liposarcoma
• Myxopapillary Ependymoma
• N-acetylglutamate Synthetase Deficiency
• Nail Patella Syndrome
• Narcolepsy
• Nasopharyngeal Carcinoma
• Necrotizing Enterocolitis
• Necrotizing Fasciitis
• Neisseria Meningitidis Infection
• Nelson Syndrome
• Neonatal Herpes
• Neonatal Hypothyroidism
• Neonatal Meningitis
• Neonatal Ovarian Cyst
• Neonatal Stroke
• Neonatal Systemic Lupus Erythematosus
• Nephrocalcinosis
• Nephrogenic Diabetes Insipidus
• Nephrogenic Systemic Fibrosis
• Nephropathic Cystinosis
• Nephrosclerosis
• Nerve Sheath Neoplasm
• Netherton Syndrome
• Neuroacanthocytosis
• Neuroblastoma
• Neuroepithelioma
• Neurofibroma
• Neurofibromatosis
• Neurofibromatosis Type 1
• Neurofibromatosis Type 2
• Neurofibrosarcoma
• Neurogenic Diabetes Insipidus
• Neuroleptic Malignant Syndrome
• Neuromyelitis Optica Spectrum Disorder
• Neuronal Ceroid Lipofuscinoses
• Neuropathy Hereditary Sensory and Autonomic Type 1
• Neurosyphilis
• Neurotoxicity Syndromes
• Neutral Lipid Storage Disease With Myopathy
• Nevoid Basal Cell Carcinoma Syndrome
• New Daily-persistent Headache
• Niemann-Pick Disease
• Niemann-Pick Disease Type B
• Niemann-Pick Disease Type C1
• Nodular Melanoma
• Nodular Regenerative Hyperplasia
• Non 24 Hour Sleep Wake Disorder
• Non-Hodgkin Lymphoma, Childhood
• Nonalcoholic Steatohepatitis
• Nonbullous Congenital Ichthyosiform Erythroderma
• Nondystrophic Myotonia
• Nonseminomatous Germ Cell Tumor
• Noonan Syndrome
• Noonan Syndrome 1
• Norrie Disease
• Notalgia Paresthetica
• Occipital Horn Syndrome
• Ochronosis
• Ocular Cicatricial Pemphigoid
• Ocular Melanoma
• Ocular Motility Disorders
• Ocular Toxoplasmosis
• Oculocutaneous Albinism
• Oculodentodigital Dysplasia
• Oculomotor Apraxia Cogan Type
• Oculopharyngeal Muscular Dystrophy
• Oligoastrocytoma
• Oligodendroglioma
• Omenn Syndrome
• Onchocerciasis
• Oncogenic Osteomalacia
• Optic Atrophy 1
• Optic Neuritis
• Optic Neuropathy, Anterior Ischemic
• Optic Pathway Glioma
• Oral Cancer
• Oral Leukoplakia
• Oral Lichen Planus
• Oral Squamous Cell Carcinoma
• Orbital Lymphoma
• Organic Acidemia
• Ornithine Transcarbamylase Deficiency
• Orofaciodigital Syndromes
• Oropharyngeal Cancer, Adult
• Osteochondritis Dissecans
• Osteochondroma
• Osteogenesis Imperfecta
• Osteomalacia
• Osteomyelitis
• Osteopetrosis
• Osteoporosis-pseudoglioma Syndrome
• Osteosarcoma
• Oto-Palatal-digital Syndrome
• Oto-palato-digital Syndrome Type 1
• Ovarian Cancer
• Ovarian Carcinosarcoma
• Ovarian Epithelial Cancer
• Ovarian Germ Cell Tumor
• Ovarian Low Malignant Potential Tumor
• Pachyonychia Congenita
• Paget Disease, Extramammary
• Palatopharyngeal Incompetence
• Pallister-Hall Syndrome
• Palmoplantar Keratoderma
• Pancreatic Adenoma
• Pancreatic Cancer
• Pancreatic Carcinoma, Familial
• Pancreatic Islet Cell Tumors
• PANDAS
• Pantothenate Kinase-associated Neurodegeneration
• Panuveitis
• Papillary Renal Cell Carcinoma
• Papilledema
• Papillon Lefevre Syndrome
• Paragangliomas 1
• Parainfluenza Virus Type 3
• Paramyotonia Congenita
• Paraplegia
• Parapsoriasis
• Parathyroid Carcinoma
• Parkes Weber Syndrome
• Paroxysmal Nocturnal Hemoglobinuria
• Paroxysmal Ventricular Fibrillation
• Pars Planitis
• Patent Ductus Arteriosus
• Pearson Syndrome
• Pectus Carinatum
• Pediatric Crohns Disease
• Pediatric Multiple Sclerosis
• Pediatric Ulcerative Colitis
• Pelizaeus-Merzbacher Disease
• Pemphigus
• Pemphigus Vulgaris
• Penis Agenesis
• Pentalogy of Cantrell
• Periarteritis Nodosa
• Periodic Fever, Familial, Autosomal Dominant
• Peripartum Cardiomyopathy
• Peripheral T-cell Lymphoma
• Periventricular Leukomalacia
• Peroxisome Biogenesis Disorders
• Persistent Truncus Arteriosus
• Peutz Jeghers Syndrome
• Peyronie Disease
• Pfeiffer Syndrome
• PHACE Syndrome
• Phenylketonuria
• Pheochromocytoma
• Phosphoglycerate Kinase Deficiency
• Photosensitive Epilepsy
• Pick's Disease
• Piebaldism
• Pierre Robin Sequence
• Pigment-dispersion Syndrome
• Pigmentary Retinopathy
• Pigmented Villonodular Synovitis
• Pilocytic Astrocytoma
• Pilomatrixoma
• Pineoblastoma
• Pineoblastoma, Childhood
• Pineocytoma
• Piriformis Syndrome
• Pityriasis Rubra Pilaris
• Plagiocephaly
• Plasma Cell Leukemia
• Plasma Thromboplastin Antecedent Deficiency
• Platelet Storage Pool Deficiency
• Pleomorphic Malignant Fibrous Histiocytoma
• Pleomorphic Xanthoastrocytoma
• Pleuropulmonary Blastoma
• Pneumocystosis
• Pneumonia, Eosinophilic
• POEMS Syndrome
• Poliomyelitis
• Polyarteritis Nodosa
• Polyarticular Onset Juvenile Idiopathic Arthritis
• Polycystic Liver Disease
• Polycythemia Vera
• Polydactyly
• Polyembryoma
• Polymorphic Catecholergic Ventricular Tachycardia
• Polymyositis
• Polyomavirus Allograft Nephropathy
• Porencephaly
• Porokeratosis of Mibelli
• Porphyria
• Porphyria Cutanea Tarda
• Post Polio Syndrome
• Post-transplant Lymphoproliferative Disease
• Post-traumatic Epilepsy
• Posterior Urethral Valves
• Posterior Uveitis
• Postural Orthostatic Tachycardia Syndrome
• Prader-Willi Syndrome
• Precocious Puberty
• Premature Ovarian Failure, Familial
• Priapism
• Primary Agammaglobulinemia
• Primary Biliary Cirrhosis
• Primary Carnitine Deficiency
• Primary Ciliary Dyskinesia
• Primary Effusion Lymphoma
• Primary Hyperoxaluria Type 1
• Primary Lateral Sclerosis
• Primary Pigmented Nodular Adrenocortical Disease
• Primary Progressive Aphasia
• Primary Sclerosing Cholangitis
• Prinzmetal's Variant Angina
• Progeria
• Progressive Hemifacial Atrophy
• Progressive Multifocal Leukoencephalopathy
• Progressive Myoclonic Epilepsy
• Progressive Non-fluent Aphasia
• Progressive Supranuclear Palsy
• Prolactinoma, Familial
• Propionic Acidemia
• Proteus Syndrome
• Protoporphyria
• Prurigo Nodularis
• Pseudo-Turner Syndrome
• Pseudocholinesterase Deficiency
• Pseudohypoparathyroidism
• Pseudohypoparathyroidism Type 1A
• Pseudomyotonia
• Pseudomyxoma Peritonei
• Pseudopelade of Brocq
• Pseudopseudohypoparathyroidism
• Pseudotumor Cerebri
• Pseudoxanthoma Elasticum
• Pterygium of the Conjunctiva and Cornea
• Pudendal Neuralgia
• Pulmonary Arteriovenous Malformation
• Pulmonary Edema of Mountaineers
• Pulmonary Surfactant Protein B, Deficiency of
• Pulmonary Valve Stenosis
• Pulmonary Vein Stenosis
• Pulmonary Venoocclusive Disease
• Pulmonary Venous Return Anomaly
• Pulmonic Stenosis
• Punctate Inner Choroidopathy
• Pure Autonomic Failure
• Pure Red Cell Aplasia
• Pyoderma Gangrenosum
• Pyridoxine Deficiency
• Pyropoikilocytosis Hereditary
• Q Fever
• Rabies
• Radiation Induced Brachial Plexopathy
• Radiation Induced Cancer
• Rasmussen Encephalitis
• Reactive Arthritis
• Rectal Neoplasm
• Recurrent Respiratory Papillomatosis
• Refsum Disease
• Refsum Disease, Infantile Form
• Relapsing Polychondritis
• Renal Cancer
• Renal Glycosuria
• Renal Tubular Acidosis
• Renal Tubular Acidosis, Distal, Autosomal Dominant
• Renal Tubular Dysgenesis
• Respiratory Distress Syndrome, Infant
• Restless Legs Syndrome, Susceptibility To, 6
• Reticular Dysgenesis
• Retinitis Pigmentosa
• Retinitis Pigmentosa-deafness Syndrome
• Retinoblastoma
• Retinopathy of Prematurity
• Retroperitoneal Fibrosis
• Rett Syndrome
• Revesz Syndrome
• Rhabdoid Tumor
• Rhabdomyosarcoma Alveolar
• Rhabdomyosarcoma Embryonal
• Rheumatic Fever
• Richter Syndrome
• Rickets
• Rod Myopathy
• Rothmund Thomson Syndrome
• Roussy Levy Syndrome
• Rubella
• Rubinstein-Taybi Syndrome
• Russell-Silver Syndrome
• Sacrococcygeal Teratoma
• Sandhoff Disease
• SAPHO Syndrome
• Sarcoidosis
• Scheuermann Disease
• Schistosomiasis
• Schwannoma
• Scleroatonic Muscular Dystrophy
• Scott Syndrome
• Scurvy
• Selective IgA Deficiency
• Semantic Dementia
• Seminoma
• Senior Loken Syndrome
• Sensory Neuropathy Type 1
• Septo-optic Dysplasia
• Serpiginous Choroiditis
• Sertoli-leydig Cell Tumors
• Severe Acute Respiratory Syndrome
• Severe Combined Immunodeficiency
• Sezary Syndrome
• Sharp Syndrome
• Shigellosis
• Short Bowel Syndrome
• Shprintzen-Goldberg Craniosynostosis Syndrome
• Shwachman-Diamond Syndrome
• Sialadenitis
• Sickle Cell Anemia
• Sideroblastic Anemia Pyridoxine-refractory Autosomal Recessive
• Siderosis
• Silicosis
• Single Ventricular Heart
• Sinonasal Undifferentiated Carcinoma
• Sitosterolemia
• Situs Inversus
• Small Intestine Cancer
• Small Non-cleaved Cell Lymphoma
• Smallpox
• Smith-Magenis Syndrome
• Soft Tissue Sarcoma
• Somatostatinoma
• Spasmodic Dysphonia
• Spastic Paraparesis
• Spastic Paraplegia Epilepsy Mental Retardation
• Spheroid Body Myopathy
• Sphingolipidosis
• Spielmeyer-Vogt Disease
• Spina Bifida
• Spinal Cord Neoplasm
• Spinal Muscular Atrophy
• Spinal Muscular Atrophy 1
• Spinal Muscular Atrophy Type 2
• Spinal Shock
• Spinocerebellar Ataxia
• Spinocerebellar Ataxia 1
• Spinocerebellar Ataxia 10
• Spinocerebellar Ataxia 2
• Spinocerebellar Ataxia 3
• Spinocerebellar Ataxia Type 6
• Splenomegaly
• Spondylarthropathy
• Spontaneous Coronary Artery Dissection
• Sporotrichosis
• Squamous Cell Carcinoma of the Head and Neck
• Stargardt Disease
• Status Epilepticus
• Stevens-Johnson Syndrome
• Stickler Syndrome
• Stiff Person Syndrome
• Still's Disease Adult Onset
• Stomach Carcinoma
• Streptococcal Group A Invasive Disease
• Stress Cardiomyopathy
• Strongyloidiasis
• Sturge-Weber Syndrome
• Subcutaneous Panniculitis-like T-cell Lymphoma
• Subependymal Giant Cell Astrocytoma
• Subependymoma
• Succinic Semialdehyde Dehydrogenase Deficiency
• Sudden Infant Death Syndrome
• Sulfite Oxidase Deficiency
• Superficial Spreading Melanoma
• Superior Limbic Keratoconjunctivitis
• Superior Vena Cava Syndrome
• Supraglottic Laryngeal Cancer
• Supratentorial Primitive Neuroectodermal Tumor
• Supratentorial Primitive Neuroectodermal Tumors, Childhood
• Supravalvular Aortic Stenosis
• Susac Syndrome
• Sydenham's Chorea
• Synovial Sarcoma
• Synovitis
• Syringomyelia
• Systemic Candidiasis
• Systemic Capillary Leak Syndrome
• Systemic Mastocytosis
• Systemic Onset Juvenile Idiopathic Arthritis
• T-Lymphocytopenia
• Takayasu Arteritis
• Talipes Equinovarus
• Tangier Disease
• Tay Sachs Disease
• Testicular Cancer
• Testotoxicosis
• Tetanus
• Tetrahydrobiopterin Deficiency
• Tetralogy of Fallot
• Thalassemia
• Thoracic Outlet Syndrome
• Thrombasthenia
• Thrombotic Thrombocytopenic Purpura, Acquired
• Thrombotic Thrombocytopenic Purpura, Congenital
• Thymic Epithelial Tumor
• Thyroid Cancer, Anaplastic
• Thyroid Cancer, Follicular
• Thyroid Cancer, Medullary
• Thyrotoxic Periodic Paralysis
• Tick-borne Encephalitis
• Tongue Cancer
• Toni-Debre-Fanconi Syndrome
• Toxic Epidermal Necrolysis
• Toxocariasis
• Tracheobronchomalacia
• Tracheoesophageal Fistula
• Trachoma
• Transitional Cell Carcinoma
• Transposition of the Great Arteries
• Transverse Myelitis
• Tremor Hereditary Essential, 1
• Treponema Infection
• Trichotillomania
• Trichuriasis
• Tricuspid Atresia
• Trigeminal Neuralgia
• Trigger Thumb
• Trisomy 13
• Trisomy 18
• Tropical Sprue
• Trypanosomiasis, Human East-African
• Tuberculosis
• Tuberculous Meningitis
• Tuberous Sclerosis
• Tubular Aggregate Myopathy
• Tufted Angioma
• Tufting Enteropathy
• Tularemia
• Turner Syndrome
• Twin Twin Transfusion Syndrome
• Tylosis
• Typhoid Fever
• Typhus
• Tyrosinemia Type 1
• Ulcerative Proctitis
• Unverricht-Lundborg Disease
• Urachal Cancer
• Urea Cycle Disorders
• Urethral Cancer
• Usher Syndrome
• Usher Syndrome Type 3
• Usher Syndrome, Type 1
• Usual Interstitial Pneumonia
• Uterine Sarcoma
• Uveal Diseases
• VACTERL Association
• Vaginal Cancer
• Variegate Porphyria
• Venezuelan Equine Encephalitis
• Ventricular Septal Defects
• Vernal Keratoconjunctivitis
• Vertical Talus, Congenital
• Viral Hemorrhagic Fever
• Virus Associated Hemophagocytic Syndrome
• Visceral Steatosis
• VLCAD Deficiency
• Vogt-Koyanagi-Harada Syndrome
• Von Hippel-Lindau Syndrome
• Vulvar Cancer
• Vulvar Vestibulitis Syndrome
• WAGR Syndrome
• Waldenstrom Macroglobulinemia
• Walker-Warburg Syndrome
• Warm Antibody Hemolytic Anemia
• Watermelon Stomach
• Watson Syndrome
• WDHA Syndrome
• Weber Syndrome
• Wegener's Granulomatosis
• Wells Syndrome
• Werner's Syndrome
• Wernicke-Korsakoff Syndrome
• West Nile Encephalitis
• West Nile Virus
• West Syndrome
• Western Equine Encephalitis
• WHIM Syndrome
• Whooping Cough
• Williams Syndrome
• Wilms' Tumor
• Wilson Disease
• Wiskott Aldrich Syndrome
• Wolff-Parkinson-White Syndrome
• Wolfram Syndrome
• Wolman Disease
• X-linked Adrenal Hypoplasia Congenita
• X-linked Agammaglobulinemia
• X-linked Congenital Stationary Night Blindness
• X-linked Hypohidrotic Ectodermal Dysplasia
• X-linked Ichthyosis
• X-linked Lymphoproliferative Syndrome
• X-linked Mental Retardation and Macro-orchidism
• X-linked Severe Combined Immunodeficiency
• Xeroderma Pigmentosum
• Yellow Fever
• Yolk Sac Tumor
• Zellweger Syndrome
• Zollinger-Ellison Syndrome
• Zygomycosis
• 21-hydroxylase Deficiency
• 22q11.2 Deletion Syndrome
• 22q13.3 Deletion Syndrome
• 47 XXX Syndrome
• 47, XYY Syndrome
• 5-Nucleotidase Syndrome
• 5q- Syndrome