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5 Oxoprolinuria
ACTH Deficiency
AIDS (Acquired Immune Deficiency Syndrome)
AIDS Dysmorphic Syndrome
APECED Syndrome
Aarskog Syndrome
Aase Syndrome
Ablepharon Macrostomia Syndrome
Acanthocheilonemiasis
Acanthocytosis
Acanthosis Nigricans
Achalasia
Achard Thiers Syndrome
Achondrogenesis
Achondroplasia
Acidemia, Isovaleric
Acidemia, Methylmalonic
Acidemia, Propionic
Acne Rosacea
Acoustic Neuroma
Acrocallosal Syndrome, Schinzel Type
Acrodermatitis Enteropathica
Acrodysostosis
Acromegaly
Acromesomelic Dysplasia
Acromicric Dysplasia
Acute Respiratory Distress Syndrome
Adams Oliver Syndrome
Addison's Disease
Adenoid Cystic Carcinoma
Adenylosuccinate Lyase Deficiency
Adie Syndrome
Adrenal Hyperplasia, Congenital (General)
Adrenoleukodystrophy
Afibrinogenemia, Congenital
Agammaglobulinemias, Primary
Agenesis of Corpus Callosum
Agnosia, Primary Visual
Agranulocytosis, Acquired
Ahumada Del Castillo Syndrome
Aicardi Syndrome
Alagille Syndrome
Albinism
Alexander Disease
Alkaptonuria
Allan Herndon Syndrome
Alopecia Areata
Alpers Disease
Alpha-1-Antitrypsin Deficiency
Alport Syndrome
Alstrom Syndrome
Alternating Hemiplegia of Childhood
Alveolar Soft Part Sarcoma
Alveolitis, Extrinsic Allergic
Alzheimer's Disease
Ameloblastoma
Amelogenesis Imperfecta
Amenorrhea, Primary
Amenorrhea-Galactorrhea Syndrome
Amniotic Bands
Amyloidosis
Amyotrophic Lateral Sclerosis
Anaphylaxis
Andersen Disease (GSD IV)
Anemia, Aplastic
Anemia, Blackfan Diamond
Anemia, Fanconi's
Anemia, Hemolytic, Acquired Autoimmune
Anemia, Hemolytic, Cold Antibody
Anemia, Hemolytic, Warm Antibody
Anemia, Hereditary Nonspherocytic Hemolytic
Anemia, Hereditary Spherocytic Hemolytic
Anemia, Megaloblastic
Anemia, Pernicious
Anemia, Sideroblastic
Anencephaly
Angelman Syndrome
Angioedema, Hereditary
Aniridia
Aniridia Cerebellar Ataxia Mental Deficiency
Ankylosing Spondylitis
Anodontia
Anorexia Nervosa
Anthrax
Antiphospholipid Syndrome
Antisocial Personality Disorder
Antithrombin III Deficiency
Antley Bixler Syndrome
Apert Syndrome
Aplasia Cutis Congenita
Apnea, Infantile
Apnea, Sleep
Apraxia
Apraxia, Ocular Motor, Cogan Type
Arachnoid Cysts
Arachnoiditis
Arginase Deficiency
Argininosuccinic Aciduria
Arnold-Chiari Malformation
Arteriovenous Malformation

Arteritis, Giant Cell
Arteritis, Takayasu
Arthritis, Infectious
Arthritis, Juvenile Rheumatoid
Arthritis, Psoriatic
Arthrogryposis Multiplex Congenita
Asherman's Syndrome
Aspartylglycosaminuria
Asperger's Syndrome
Aspergillosis
Astrocytoma, Benign
Astrocytoma, Malignant
Ataxia Telangiectasia
Ataxia, Friedreich's
Ataxia, Hereditary
Ataxia, Marie's
Atrial Septal Defects
Atrioventricular Septal Defect
Attention Deficit Hyperactivity Disorder
Autism
Babesiosis
Balantidiasis
Baller Gerold Syndrome
Balo Disease
Bannayan Riley Ruvalcaba Syndrome
Banti's Syndrome
Bardet Biedl Syndrome
Barrett Esophagus
Barth Syndrome
Bartonellosis
Bartter's Syndrome
Batten Disease
Beals Syndrome
Beckwith Wiedemann Syndrome
Behcet's Syndrome
Bejel
Bell's Palsy
Benign Essential Tremor
Bernard Soulier Syndrome
Berylliosis
Biliary Atresia, Extrahepatic
Binswanger's Disease
Bjornstad Syndrome
Blastomycosis
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
Blepharospasm, Benign Essential
Bloom Syndrome
Blue Diaper Syndrome
Blue Rubber Bleb Nevus
Borjeson Syndrome
Botulism
Bowen Hutterite Syndrome
Bowen's Disease
Bowenoid Papulosis
Brain Tumors, General
Branchio Oculo Facial Syndrome
Branchio Oto Renal Syndrome
Broad Beta Disease
Bronchopulmonary Dysplasia (BPD)
Brown Sequard Syndrome
Brown Syndrome
Brucellosis
Bubonic Plague
Budd Chiari Syndrome
Buerger's Disease
Bulimia
Bullous Pemphigoid
Burning Mouth Syndrome
C Syndrome
CHARGE Syndrome
Campomelic Syndrome
Camurati-Engelmann Disease
Cancer, Colon
Cancer, Prostate
Cancers, Skin, General
Candidiasis
Carbamyl Phosphate Synthetase Deficiency
Carbohydrate deficient Glycoprotein Syndrome Type Ia
Carboxylase Deficiency, Multiple
Carcinoid Syndrome
Carcinoma, Renal Cell
Carcinoma, Squamous Cell
Cardio Auditory Syndrome
Cardiofaciocutaneous Syndrome
Carnitine Deficiency Syndromes
Carnitine Palmitoyltransferase Deficiency
Carnosinemia
Caroli Disease
Carpal Tunnel Syndrome
Carpenter Syndrome
Castleman's Disease
Cat Eye Syndrome
Cat Scratch Disease
Cataract Dental Syndrome
Cataracts
Catel Manzke Syndrome
Caudal Regression Syndrome
Cavernous Malformation
Cayler Syndrome
Celiac Disease

Central Core Disease
Central Hypoventilation Syndrome, Congenital
Cerebellar Agenesis
Cerebellar Degeneration, Subacute
Cerebral Palsy
Cerebro Oculo Facio Skeletal Syndrome
Cerebrocostomandibular Syndrome
Chagas Disease
Chalazion
Chandler's Syndrome
Charcot Marie Tooth Disease
Chediak Higashi Syndrome
Chiari Frommel Syndrome
Chikungunya
Chlamydia
Cholangitis, Primary Sclerosing
Cholecystitis
Cholera
Cholestasis
Chondrocalcinosis, Familial Articular
Chorea, Sydenham's
Choroideremia
Choroiditis, Serpiginous
Chromosome 10, Distal Trisomy 10q
Chromosome 10, Monosomy 10p
Chromosome 11, Partial Monosomy 11q
Chromosome 11, Partial Trisomy 11q
Chromosome 13, Partial Monosomy 13q
Chromosome 14 Ring
Chromosome 14, Trisomy Mosaic
Chromosome 15 Ring
Chromosome 15, Distal Trisomy 15q
Chromosome 18 Ring
Chromosome 18, Monosomy 18p
Chromosome 18, Tetrasomy 18p
Chromosome 18q- Syndrome
Chromosome 21 Ring
Chromosome 22 Ring
Chromosome 22, Trisomy Mosaic
Chromosome 3, Monosomy 3p2
Chromosome 3, Trisomy 3q2
Chromosome 4 Ring
Chromosome 4, Monosomy 4q
Chromosome 4, Monosomy Distal 4q
Chromosome 4, Partial Trisomy Distal 4q
Chromosome 4, Trisomy 4p
Chromosome 5, Trisomy 5p
Chromosome 6 Ring
Chromosome 6, Partial Trisomy 6q
Chromosome 7, Partial Monosomy 7p
Chromosome 8, Monosomy 8p2
Chromosome 9 Ring
Chromosome 9, Partial Monosomy 9p
Chromosome 9, Tetrasomy 9p
Chromosome 9, Trisomy 9p (Multiple Variants)
Chromosome 9, Trisomy Mosaic
Chronic Fatigue Syndrome
Chronic Fatigue Syndrome/Myalgic Encephalomyelitis
Chronic Inflammatory Demyelinating Polyneuropathy
Churg Strauss Syndrome
Ciguatera Fish Poisoning
Cirrhosis, Primary Biliary
Citrullinemia
Cleft Palate and Cleft Lip
Cleidocranial Dysplasia
Clubfoot
Coats' Disease
Cochin Jewish Disorder
Cockayne Syndrome
Coffin Lowry Syndrome
Coffin Siris Syndrome
Cogan Reese Syndrome
Cohen Syndrome
Colitis, Collagenous
Colitis, Ulcerative
Colorado Tick Fever
Common Variable Immunodeficiency
Condyloma
Cone Dystrophy
Congenital Fibrosis of the Extraocular Muscles
Congenital Varicella Syndrome
Conjunctivitis, Ligneous
Conn Syndrome
Conradi Hunermann Syndrome
Conversion Disorder
Cor Triatriatum
Corneal Dystrophies
Cornelia de Lange Syndrome
Corticobasal Degeneration
Costello Syndrome
Cowpox
Craniofrontonasal Dysplasia
Craniometaphyseal Dysplasia
Craniosynostosis, Primary
Creutzfeldt Jakob Disease
Cri du Chat Syndrome
Crigler Najjar Syndrome Type I
Crohn's Disease
Cronkhite-Canada Syndrome
Crouzon Syndrome

Cryoglobulinemia, Essential Mixed
Cryptococcosis
Cushing's Syndrome
Cutaneous T-Cell Lymphomas
Cutis Laxa
Cutis Marmorata Telangiectatica Congenita
Cyclic Vomiting Syndrome
Cystic Fibrosis
Cystic Hygroma
Cysticercosis
Cystinosis
Cystinuria
Cytochrome C Oxidase Deficiency
Cytomegalovirus Infection
DOOR Syndrome
Dandy Walker Malformation
Darier Disease
De Barsy Syndrome
De Santis Cacchione Syndrome
Degos Disease
Dejerine Sottas Disease
Dengue Fever
Dentin Dysplasia, Coronal
Dentin Dysplasia, Radicular
Dentinogenesis Imperfecta Type III
Depersonalization Disorder
Dercum Disease
Dermatitis, Atopic
Dermatitis, Contact
Dermatomyositis
Devic Disease
Dextrocardia with Situs Inversus
DiGeorge Syndrome
Diabetes Insipidus
Diabetes, Insulin Dependent
Diastrophic Dysplasia
Diencephalic Syndrome
Dilatation of the Pulmonary Artery, Idiopathic
Diverticulitis
Diverticulosis
Down Syndrome
Dracunculosis
Drash Syndrome
Duane Syndrome
Dubin Johnson Syndrome
Dubowitz Syndrome
Duhring Disease
Duodenal Atresia or Stenosis
Dupuytren's Contracture
Dyggve Melchior Clausen Syndrome
Dysautonomia, Familial
Dyschondrosteosis
Dyskeratosis Congenita
Dyslexia
Dysplasia, Epiphysealis Hemimelica
Dysplasia, Fibrous
Dysplastic Nevus Syndrome
Dysthymia
Dystonia
Dystrophy, Asphyxiating Thoracic
Dystrophy, Myotonic
Eales Disease
Ear, Patella, Short Stature Syndrome
Ectodermal Dysplasias
Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate
Edema, Idiopathic
Ehlers Danlos Syndrome
Eisenmenger Syndrome
Elephantiasis
Ellis Van Creveld Syndrome
Emphysema, Congenital Lobar
Empty Sella Syndrome
Encephalitis, Herpes Simplex
Encephalitis, Japanese
Encephalitis, Rasmussen's
Encephalocele
Endocardial Fibroelastosis (EFE)
Endocarditis, Infective
Endometriosis
Endomyocardial Fibrosis
Enterobiasis
Eosinophilia Myalgia
Eosinophilic Fasciitis
Epidermal Nevus Syndrome
Epidermolysis Bullosa
Epidermolytic Hyperkeratosis
Epididymitis
Epilepsy
Epitheliopathy, Acute Posterior Multifocal Placoid Pigment
Erb's Palsy
Erdheim Chester Disease
Erysipelas
Erythema Multiforme
Erythroderma desquamativa of Leiner
Erythrokeratodermia with Ataxia
Erythromelalgia
Erythropoietic Protoporphyria (EPP)
Esophageal Atresia and/or Tracheoesophageal Fistula
Essential Iris Atrophy
Exostoses, Multiple

Exstrophy of the Bladder
FG Syndrome
Fabry Disease
Facioscapulohumeral Muscular Dystrophy
Factor IX Deficiency
Factor XIII Deficiency
Fahr's Disease
Familial Adenomatous Polyposis
Familial Eosinophilic Cellulitis
Familial Hypophosphatemia
Farber's Disease
Fascioliasis
Felty Syndrome
Femoral Facial Syndrome
Fetal Alcohol Syndrome
Fetal Hydantoin Syndrome
Fetal Retinoid Syndrome
Fetal Valproate Syndrome
Fiber Type Disproportion, Congenital
Fibrodysplasia Ossificans Progressiva (FOP)
Fibromatosis, Congenital Generalized
Fibromyalgia
Filariasis
Filippi Syndrome
Fitz Hugh Curtis Syndrome
Floating Harbor Syndrome
Focal Dermal Hypoplasia
Forbes Disease
Forestier's Disease
Formaldehyde Poisoning
Fountain Syndrome
Fox Fordyce Disease
Fragile X Syndrome
Fraser Syndrome
Freeman Sheldon Syndrome
Frey's Syndrome
Froelich's Syndrome
Frontofacionasal Dysplasia
Frontonasal Dysplasia
Fructose Intolerance, Hereditary
Fructosuria
Fryns Syndrome
Fucosidosis
Galactosemia
Galloway Mowat Syndrome
Gardner Syndrome
Gastritis, Chronic, Erosive
Gastritis, Giant Hypertrophic
Gastroenteritis, Eosinophilic
Gastroesophageal Reflux
Gastroschisis
Gaucher Disease
Gerstmann Syndrome
Gianotti Crosti Syndrome
Giardiasis
Gilbert Syndrome
Glioblastoma Multiforme
Glucose Galactose Malabsorption
Glucose-6-Phosphate Dehydrogenase Deficiency
Glutaricaciduria I
Glutaricaciduria II
Glycogen Storage Disease Type V
Glycogen Storage Disease VIII
Goldenhar Syndrome (Oculo Auriculo Vertebral Spectrum)
Goodman Syndrome
Goodpasture Syndrome
Gordon Syndrome
Gorham's Disease
Gorlin Chaudhry Moss Syndrome
Gottron's Syndrome
Gouty Nephropathy, Familial
Graft versus Host Disease
Granuloma Annulare
Granulomatosis, Lymphomatoid
Granulomatous Disease, Chronic
Graves' Disease
Greig Cephalopolysyndactyly Syndrome
Grover's Disease
Growth Delay, Constitutional
Growth Hormone Deficiency
Guillain Barre Syndrome
Hageman Factor Deficiency
Hajdu Cheney Syndrome
Hallermann Streiff syndrome
Hand Foot Mouth Syndrome
Hanhart Syndrome
Hantavirus Pulmonary Syndrome
Hartnup Disease
Hashimoto's Syndrome
Hay Well's Syndrome
Headache, Cluster
Heart Block, Congenital
Heavy Metal Poisoning
Hemangioma Thrombocytopenia Syndrome
Hematuria, Benign, Familial
Hemochromatosis, Hereditary
Hemoglobinuria, Paroxysmal Cold
Hemoglobinuria, Paroxysmal Nocturnal
Hemolytic Uremic Syndrome
Hemophilia
Hemorrhagic Telangiectasia, Hereditary
Hepatic Fibrosis, Congenital
Hepatitis B
Hepatitis C
Hepatitis, Neonatal
Hepatorenal Syndrome
Hermansky Pudlak Syndrome
Hermaphroditism, True
Herpes, Neonatal
Hers Disease
Hiccups, Chronic
Hidradenitis Suppurativa
Hirschsprung's Disease
Histidinemia
Hodgkin's Disease
Holoprosencephaly
Holt Oram Syndrome
Homocystinuria
Horner's Syndrome
Human Granulocytic Ehrlichiosis (HGE)
Human Monocytic Ehrlichiosis (HME)
Hunter Syndrome
Huntington's Disease
Hurler Syndrome
Hydranencephaly
Hydrocephalus
Hyper IgM Syndrome
Hypercholesterolemia
Hyperchylomicronemia
Hyperemesis Gravidarum
Hyperexplexia
Hyperhidrosis, Primary
Hyperkalemia
Hyperlipoproteinemia Type IV
Hyperostosis Frontalis Interna
Hyperoxaluria, Primary (Type I)
Hyperprolinemia Type I
Hyperprolinemia Type II
Hyperthermia
Hypochondroplasia
Hypoglycemia
Hypohidrotic Ectodermal Dysplasia
Hypokalemia
Hypomelanosis of Ito
Hypoparathyroidism
Hypophosphatasia
Hypoplastic Left Heart Syndrome
Hypotension, Orthostatic
Hypothyroidism
Hypotonia, Benign Congenital
I Cell Disease
Ichthyosis
Ichthyosis Congenita
Ichthyosis Hystrix, Curth Macklin Type
Ichthyosis Vulgaris
Ichthyosis, CHILD Syndrome
Ichthyosis, Chanarin Dorfman Syndrome
Ichthyosis, Erythrokeratodermia Progressiva Symmetrica
Ichthyosis, Erythrokeratodermia Variabilis
Ichthyosis, Erythrokeratolysis Hiemalis
Ichthyosis, Harlequin Type
Ichthyosis, Keratosis Follicularis Spinulosa Decalvans
Ichthyosis, Lamellar Recessive
Ichthyosis, Netherton Syndrome
Ichthyosis, Sjogren Larsson Syndrome
Ichthyosis, Tay Syndrome
Ichthyosis, X Linked
Idiopathic Pulmonary Fibrosis
IgA Nephropathy
Imperforate Anus
Incontinentia Pigmenti
Interstitial Cystitis
Intestinal Pseudoobstruction
Irritable Bowel Syndrome
Isaacs' Syndrome
Ivemark Syndrome
Jackson Weiss Syndrome
Jansen Type Metaphyseal Chondrodysplasia
Jarcho Levin Syndrome
Jejunal Atresia
Job Syndrome
Johanson Blizzard Syndrome
Joubert Syndrome
Juberg Marsidi Syndrome
Jumping Frenchmen of Maine
KBG Syndrome
Kabuki Make-up Syndrome
Kallmann Syndrome
Kartagener Syndrome
Kawasaki Disease
Kearns Sayre Syndrome (KSS)
Kennedy Disease
Kenny Caffey Syndrome
Keratitis Ichthyosis Deafness Syndrome
Keratoconjunctivitis, Vernal
Keratoconus
Keratomalacia
Keratosis, Seborrheic
Kernicterus
Kienbock Disease

Kikuchi's Disease
Kinsbourne Syndrome
Kleine Levin Syndrome
Klinefelter Syndrome
Klippel Trenaunay Syndrome
Klippel-Feil Syndrome
Kluver Bucy Syndrome
Kniest Syndrome
Kohler Disease
Korsakoff's Syndrome
Kufs Disease
Kugelberg Welander Syndrome
LADD Syndrome
LEOPARD Syndrome
Laband Syndrome
Lactose Intolerance
Lambert-Eaton Myasthenic Syndrome
Landau Kleffner Syndrome
Langerhans Cell Histiocytosis
Laron Syndrome
Larsen Syndrome
Laurence Moon Syndrome
Leber's Congenital Amaurosis
Leber's Optic Atrophy
Legg Calve Perthes Disease
Legionnaires' Disease
Leigh's Disease
Lennox Gastaut Syndrome
Lenz Microphthalmia Syndrome
Leprechaunism
Leprosy
Leptospirosis
Leri Pleonosteosis
Lesch Nyhan Syndrome
Leukemia, Chronic Lymphocytic
Leukemia, Chronic Myelogenous
Leukemia, Hairy Cell
Leukodystrophy
Leukodystrophy, Canavan's
Leukodystrophy, Krabbe's
Leukodystrophy, Metachromatic
Lichen Planus
Lichen Sclerosus
Lipodystrophy
Lissencephaly
Listeriosis
Locked In Syndrome
Loken Senior Syndrome
Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)
Lowe Syndrome
Lupus
Lyelles Syndrome
Lyme Disease
Lymphadenopathy, Angioimmunoblastic with Dysproteinemia
Lymphangioleiomyomatosis
Lymphatic Malformations
Lymphedema, Hereditary
Lymphocytic Infiltrate of Jessner
Lymphoma, Gastric, Non Hodgkins Type
Lynch Syndromes
MASA Syndrome
MELAS Syndrome
MERRF Syndrome
MURCS Association
Machado-Joseph Disease
Macroglossia
Macular Degeneration
Macular Degeneration, Polymorphic
Madelung's Disease
Maffucci Syndrome
Malaria
Malignant Hyperthermia
Mallory Weiss Syndrome
Manic Depression, Bipolar
Mannosidosis
Mantle Cell Lymphoma
Maple Syrup Urine Disease
Marcus Gunn Phenomenon
Marden Walker Syndrome
Marfan Syndrome
Marinesco Sjogren Syndrome
Maroteaux Lamy Syndrome
Marshall Smith Syndrome
Marshall Syndrome
Mastocytosis
Maxillofacial Dysostosis
Maxillonasal Dysplasia, Binder Type
May Hegglin Anomaly
McCune Albright Syndrome
McKusick Type Metaphyseal Chondrodysplasia
Measles
Meckel Syndrome
Mediterranean Fever, Familial
Medium Chain Acyl CoA Dehydrogenase Deficiency
Medullary Cystic Disease
Medullary Sponge Kidney
Medulloblastoma
Megalocornea Mental Retardation Syndrome
Meige Syndrome
Melanoma, Malignant
Meleda Disease
Melkersson Rosenthal Syndrome
Melnick Needles Syndrome
Meniere Disease
Meningioma
Meningitis
Meningitis, Bacterial
Meningitis, Meningococcal
Meningitis, Tuberculous
Meningococcemia
Menkes Disease
Mesenteritis, Retractile
Metatropic Dysplasia I
Microvillus Inclusion Disease
Mikulicz Syndrome
Miller Syndrome
Mitral Valve Prolapse Syndrome
Mixed Connective Tissue Disease (MCTD)
Moebius Syndrome
Monilethrix
Morquio Syndrome
Motor Neuron Disease
Mountain Sickness, Acute
Moyamoya Syndrome
Mucha Habermann Disease
Mucolipidosis IV
Mucopolysaccharidoses
Mucous Membrane Pemphigoid
Mulibrey Nanism Syndrome (Perheentupa Syndrome)
Mullerian Aplasia
Multiple Epiphyseal Dysplasia
Multiple Sclerosis
Multiple Sulfatase Deficiency
Multiple System Atrophy
Mulvihill Smith Syndrome
Mumps
Muscular Dystrophy, Becker
Muscular Dystrophy, Duchenne
Muscular Dystrophy, Emery Dreifuss
Muscular Dystrophy, Fukuyama Type
Muscular Dystrophy, Limb Girdle
Muscular Dystrophy, Oculo Gastrointestinal
Mutism, Selective
Myasthenia Gravis
Mycosis Fungoides
Myelitis
Myelofibrosis, Idiopathic
Myeloma, Multiple
Myhre Syndrome
Myoclonus, General
Myopathy, Congenital, Batten Turner Type
Myopathy, Desmin Storage
Myopathy, Myotubular
Myopathy, Scapuloperoneal
Myositis, Inclusion Body
Myotonia Congenita
N-Acetyl Glutamate Synthetase Deficiency
Nager Syndrome
Nail Patella Syndrome
Narcolepsy
Nelson Syndrome
Nemaline Myopathy
Neonatal Lupus
Neu Laxova Syndrome
Neurasthenia
Neuroacanthocytosis
Neurodegeneration with Brain Iron Accumulation Type 1
Neurofibromatosis Type 1 (NF-1)
Neurofibromatosis Type 2 (NF-2)
Neuroleptic Malignant Syndrome
Neuropathy, Congenital Hypomyelination
Neuropathy, Giant Axonal
Neuropathy, Hereditary Sensory, Type I
Neuropathy, Hereditary Sensory, Type II
Neuropathy, Peripheral
Neutropenia, Cyclic
Neutropenia, Severe Chronic
Nevoid Basal Cell Carcinoma Syndrome
Nezelof's Syndrome
Niemann Pick Disease
Nocardiosis
Non Ketotic Hyperglycinemia
Noonan Syndrome
Norrie Disease
Nystagmus, Benign Paroxysmal Positional
Obsessive Compulsive Disorder
Ochoa Syndrome
Oculo Dento Digital Dysplasia
Oculocerebral Syndrome with Hypopigmentation
Oculocerebrocutaneous Syndrome
Olivopontocerebellar Atrophy, Hereditary
Ollier Disease
Opitz G/BBB Syndrome
Opportunistic Infections
Oral Facial Digital Syndrome
Organic Mood Syndrome
Organic Personality Syndrome
Ornithine Transcarbamylase Deficiency
Orocraniodigital Syndrome
Osgood Schlatter Condition

Osteogenesis Imperfecta
Osteomyelitis
Osteonecrosis
Osteopetrosis
Oto Palato Digital Syndrome Type I and II
PEPCK Deficiency, Mitochondrial
POEMS Syndrome
Pachydermoperiostosis
Paget's Disease
Paget's Disease of the Breast
Pallister Hall Syndrome
Pallister Killian Mosaic Syndrome
Pallister W Syndrome
Pancreatic Islet Cell Tumor
Panic Anxiety Syndrome
Panniculitis, Idiopathic Nodular
Papillitis
Papillon Lefevre Syndrome
Paracoccidioidomycosis
Paramyotonia Congenita
Paraplegia, Hereditary Spastic
Parkinson's Disease
Parry Romberg Syndrome
Pars Planitis
Parsonage Turner Syndrome
Patulous Eustachian Tube
Pediatric Cardiomyopathy
Peeling Skin Syndrome
Pelizaeus Merzbacher Brain Sclerosis
Pemphigus
Penta X Syndrome
Pentalogy of Cantrell
Perisylvian Syndrome, Congenital Bilateral
Perniosis
Pertussis
Peutz Jeghers Syndrome
Peyronie Disease
Pfeiffer Syndrome Type I
Phenylketonuria
Pheochromocytoma
Phocomelia Syndrome
Phosphoglycerate Kinase Deficiency
Pica
Pick's Disease
Pierre Robin Syndrome
Pinta
Pityriasis Rubra Pilaris
Pneumonia, Eosinophilic
Pneumonia, Interstitial
Poland Syndrome
Polyarteritis Nodosa
Polychondritis
Polycystic Kidney Diseases
Polycystic Liver Disease
Polycystic Ovary Syndrome
Polycythemia Vera
Polyglucosan Body Disease, Adult
Polymyalgia Rheumatica
Polymyositis
Pompe Disease
Popliteal Pterygium Syndrome
Porphyria
Porphyria Cutanea Tarda
Porphyria, ALA-D
Porphyria, Acute Intermittent
Porphyria, Congenital Erythropoietic
Porphyria, Hereditary Coproporphyria
Porphyria, Variegate
Post Polio Syndrome
Posterior Uveitis
Prader Willi Syndrome
Precocious Puberty
Primary Lateral Sclerosis
Proctitis
Progeria, Hutchinson Gilford
Progressive Myoclonus Epilepsy
Progressive Osseous Heteroplasia (POH)
Progressive Supranuclear Palsy
Prostatitis
Proteus Syndrome
Prune Belly Syndrome
Pseudo Hurler Polydystrophy
Pseudoachondroplastic Dysplasia
Pseudocholinesterase Deficiency
Pseudohypoparathyroidism
Pseudomyxoma Peritonei
Pseudotumor Cerebri
Pseudoxanthoma Elasticum (PXE)
Psittacosis
Psoriasis
Pterygium Syndrome, Multiple
Pulmonary Alveolar Proteinosis
Pulmonary Hypertension, Primary
Pulmonary Hypertension, Secondary
Pure Red Cell Aplasia, Acquired
Purpura, Henoch Schonlein
Purpura, Idiopathic Thrombocytopenic
Purpura, Thrombotic Thrombocytopenic
Pyknodysostosis
Pyoderma Gangrenosum

Pyridoxine-Dependent Seizures
Pyruvate Carboxylase Deficiency
Pyruvate Dehydrogenase Deficiency
Pyruvate Kinase Deficiency
Q Fever
Rabies
Rabson-Mendenhall Syndrome
Radiation Syndromes
Rapp Hodgkin Syndrome
Raynaud's Disease and Phenomenon
Recurrent Respiratory Papillomatosis
Reflex Sympathetic Dystrophy Syndrome (RSDS)
Refsum Syndrome
Reifenstein Syndrome
Reiter's Syndrome
Renal Agenesis, Bilateral
Renal Glycosuria
Respiratory Distress Syndrome, Infant
Restless Legs Syndrome
Retinitis Pigmentosa
Retinoblastoma
Retinopathy of Prematurity
Retinopathy, Arteriosclerotic
Retinopathy, Diabetic
Retinopathy, Hypertensive
Retinoschisis
Retroperitoneal Fibrosis
Rett Syndrome
Reye Syndrome
Rh Disease
Rheumatic Fever
Rickets, Vitamin D Deficiency
Rieger Syndrome
Roberts Syndrome
Robinow Syndrome
Rocky Mountain Spotted Fever
Romano Ward Syndrome
Rosai-Dorfman Disease
Rosenberg Chutorian Syndrome
Roseola Infantum
Rothmund Thomson Syndrome
Roussy Levy Syndrome
Rubella
Rubella, Congenital
Rubinstein Taybi Syndrome
Russell Silver Syndrome (RSS)
Ruvalcaba Syndrome
SHORT Syndrome
Saethre Chotzen Syndrome
Sakati Syndrome
Sandhoff Disease
Sanfilippo Syndrome
Santavuori Disease
Sarcoidosis
Sarcoma, Ewing's
Schindler Disease
Schinzel Giedion Syndrome
Schinzel Syndrome
Schmid Type Metaphyseal Chondrodysplasia
Schmidt Syndrome
Schwartz Jampel Syndrome
Scleroderma
Scott Craniodigital Syndrome With Mental Retardation
Seckel Syndrome
Seitelberger Disease (Infantile Neuroaxonal Dystrophy)
Sennetsu Fever
Septo Optic Dysplasia
Setleis Syndrome
Severe Combined Immunodeficiency
Sheehan Syndrome
Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)
Shwachman Syndrome
Sialadenitis
Sialidosis
Sickle Cell Disease
Simian B Virus Infection
Simpson Dysmorphia Syndrome
Singleton Merten Syndrome
Sirenomelia Sequence
Sjogren Syndrome
Sly Syndrome
Smallpox
Smith Lemli Opitz Syndrome
Smith Magenis Syndrome
Sneddon Syndrome
Sotos Syndrome
Spasmodic Dysphonia
Spasmodic Torticollis
Spina Bifida
Split Hand Deformity
Spondyloepiphyseal Dysplasia Tarda
Spondyloepiphyseal Dysplasia, Congenital
Sprengel Deformity
Stenosis, Spinal
Stevens Johnson Syndrome
Stickler Syndrome
Stiff Person Syndrome
Streptococcus, Group B
Sturge Weber Syndrome
Subacute Sclerosing Panencephalitis

Succinic Semialdehyde Dehydrogenase Deficiency
Sucrose Isomaltose Malabsorption, Congenital
Sudden Infant Death Syndrome
Summitt Syndrome
Susac Syndrome
Sutton Disease II
Sweet Syndrome
Syphilis, Acquired
Syphilis, Congenital
Syringobulbia
Syringomyelia
TORCH Syndrome
Tangier Disease
Tardive Dyskinesia
Tarsal Tunnel Syndrome
Tarui Disease
Tay Sachs Disease
Telecanthus with Associated Abnormalities
Temporomandibular Joint Dysfunction (TMJ)
Tethered Spinal Cord Syndrome
Tetrahydrobiopterin Deficiency
Tetralogy of Fallot
Thalamic Syndrome (Dejerine Roussy)
Thalassemia Major
Thalassemia Minor
Three M Syndrome
Thrombasthenia of Glanzmann and Naegeli
Thrombocythemia, Essential
Thrombocytopenia Absent Radius Syndrome
Thrombocytopenia, Essential
Tietze Syndrome
Tinnitus
Tolosa Hunt Syndrome
Tongue Carcinoma
Tongue, Fissured
Tongue, Geographic
Tongue, Hairy
Tooth and Nail Syndrome
Tourette Syndrome
Townes Brocks Syndrome
Toxic Shock Syndrome
Toxocariasis
Toxoplasmosis
Treacher Collins Syndrome
Tricho Dento Osseous Syndrome
Trichorhinophalangeal Syndrome Type I
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal Syndrome Type III
Trichotillomania
Trigeminal Neuralgia (Tic Douloureux)
Trimethylaminuria
Triplo X Syndrome
Triploid Syndrome
Trismus Pseudocamptodactyly Syndrome
Trisomy
Trisomy 13 Syndrome
Trisomy 18 Syndrome
Tropical Sprue
Truncus Arteriosus, Persistent
Tuberculosis
Tuberous Sclerosis
Turcot Syndrome
Turner Syndrome
Twin Twin Transfusion Syndrome
Typhoid
Tyrosinemia, Hereditary
Urticaria Pigmentosa
Urticaria, Cholinergic
Urticaria, Cold
Urticaria, Papular
Urticaria, Physical
Usher Syndrome
VACTERL Association
VACTERL with Hydrocephalus
Valinemia
Varicella Zoster
Vascular Malformations of the Brain
Vasculitis
Vasculitis, Cutaneous Necrotizing
Velocardiofacial Syndrome
Ventricular Septal Defects
Vitamin B12 Deficiency
Vitamin E Deficiency
Vitiligo
Vogt Koyanagi Harada Syndrome
Von Gierke Disease
Von Hippel Lindau Disease
Von Willebrand Disease
Vulvovaginitis
WAGR Syndrome
Waardenburg Syndrome
Waldenstrom's Macroglobulinemia
Waldmann Disease
Walker Warburg Syndrome
Wandering Spleen
Weaver Syndrome
Wegener's Granulomatosis
Weil Syndrome
Weill Marchesani Syndrome
Weismann Netter Stuhl Syndrome

Werdnig Hoffman Disease
Werner Syndrome
West Nile Encephalitis
West Syndrome
Whipple's Disease
Wieacker Syndrome
Wiedemann Rautenstrauch Syndrome
Wildervanck Syndrome
Williams Syndrome
Wilms' Tumor
Wilson's Disease
Winchester Syndrome
Wiskott Aldrich Syndrome
Wolf Hirschhorn Syndrome
Wolff Parkinson White Syndrome
Wolfram Syndrome
Wyburn Mason Syndrome
X linked Juvenile Retinoschisis
X linked Lymphoproliferative Syndrome
XYY Syndrome
Xeroderma Pigmentosum
Yaws
Yellow Fever
Yellow Nail Syndrome
Yunis Varon Syndrome
Zellweger Syndrome
Zollinger Ellison Syndrome
None