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List of Disorders

A listing of some of the many disorders for which scientists and health care professionals hope to discover improved treatments and cures through research.

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z 

A

  • Aarskog Syndrome
  • Aase Syndrome
  • Ablepharon Macrostomia Syndrome
  • Acanthocheilonemiasis
  • Acanthocytosis
  • Acanthosis Nigricans
  • Achard Thiers Syndrome
  • Achondrogenesis
  • Achondroplasia
  • Acidemia, Isovaleric
  • Acidemia, Methylmalonic
  • Acidemia, Propionic
  • Acrocallosal Syndrome, Schinzel Type
  • Acrodermatitis Enteropathica
  • Acrodysostosis
  • Acromegaly
  • Acromesomelic Dysplasia
  • Acromicric Dysplasia
  • ACTH Deficiency
  • Acute Endocarditis
  • Adams Oliver Syndrome
  • Adie Syndrome
  • Adrenal Hyperplasia, Congenital (General)
  • Adrenoleukodystrophy
  • Adrenomyeloneuropathy
  • Afibrinogenemia, Congenital
  • Agammaglobulinemias, Primary
  • Agenesis of Corpus Callosum
  • Agnosia, Primary Visual
  • Agranulocytosis, Acquired
  • Ahumada Del Castillo Syndrome
  • Aicardi Syndrome
  • Alagille Syndrome
  • Albinism
  • Alexander's Disease
  • Alkaptonuria
  • Allan Herndon Syndrome
  • Alpers Disease
  • Alpers-Huttenlocher Syndrome
  • Alpha-1-Antitrypsin Deficiency
  • Alport Syndrome
  • Alstrom Syndrome
  • Alternating Hemiplegia of Childhood
  • Alveolitis, Extrinsic Allergic
  • Alveolitis, Fibrosing
  • Ameloblastoma
  • Amelogenesis Imperfecta
  • Amniotic Band Syndrome
  • Amyloidosis
  • Amyotrophic Lateral Sclerosis
  • Andersen Disease
  • 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, Sideroblastic
  • Anencephaly
  • Angelman Syndrome
  • Angioedema, Hereditary
  • Aniridia
  • Aniridia Cerebellar Ataxia Mental Deficiency
  • Anodontia
  • Anorexia Nervosa
  • Antiphospholipid Syndrome
  • Antithrombin III Deficiency
  • Antley Bixler Syndrome
  • APECED Syndrome
  • Apert Syndrome
  • Aplasia Cutis Congenita
  • Apnea, Infantile
  • Apnea, Sleep
  • Apraxia
  • Apraxia, Ocular Motor, Cogan Type
  • Arachnoid Cysts
  • Arachnoiditis
  • Arginase Deficiency
  • Arginino Succinic Aciduria
  • Arnold Chiari Syndrome
  • Arteriovenous Malformation
  • Arthrogryposis Multiplex Congenita
  • Asherman's Syndrome
  • Aspartylglycosaminuria
  • Asperger's Syndrome
  • Aspergillosis
  • Ataxia Telangiectasia
  • Ataxia, Friedreich's
  • Ataxia, Hereditary
  • Ataxia, Marie's
  • Atrial Septal Defects
  • Atrioventricular Septal Defect
  • Attention Deficit Hyperactivity Disorder
  • Autism

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B

  • Balantidiasis
  • Baller Gerold Syndrome
  • Balo Disease
  • Bannayan Riley Ruvalcaba Syndrome
  • Banti's Syndrome
  • Bardet Biedl Syndrome
  • Bartter's Syndrome
  • Batten Disease
  • Beals Syndrome
  • Beckwith Wiedemann Syndrome
  • Bejel
  • Bernard Soulier Syndrome
  • Biliary Atresia, Extrahepatic
  • Binswanger's Disease
  • Bjornstad Syndrome
  • Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
  • Blepharospasm, Benign Essential
  • Bloom Syndrome
  • Blue Diaper Syndrome
  • Blue Rubber Bleb Nevus
  • Body - Wall Complex
  • Borjeson Syndrome
  • Bowen Hutterite Syndrome
  • Bowenoid Papulosis
  • Bowen's Disease
  • Branchio Oto Renal Syndrome
  • Broad Beta Disease
  • Bronchopulmonary Dysplasia (BPD)
  • Brown Sequard Syndrome
  • Brown Syndrome
  • Budd Chiari Syndrome
  • Buerger's Disease
  • Bullous Pemphigoid
  • Burning Mouth Syndrome

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C

  • C Syndrome
  • Camptomelic Syndrome
  • Carbamyl Phosphate Synthetase Deficiency
  • Carbohydrate deficient Glycoprotein Syndrome Type Ia
  • Carboxylase Deficiency, Multiple
  • Carcinoid Syndrome
  • Cardio Auditory Syndrome
  • Cardiofaciocutaneous Syndrome
  • Carnitine Deficiency Syndromes
  • Carnitine Palmitoyltransferase Deficiency
  • Carnosinemia
  • Caroli Disease
  • Carpenter Syndrome
  • Castleman's Disease
  • Cat Eye Syndrome
  • Cataract Dental Syndrome
  • Cataracts
  • Catel Manzke Syndrome
  • Caudal Regression Syndrome
  • Cavernous Hemangioma
  • Cayler Syndrome
  • Central Core Disease
  • Central Hypoventilation Syndrome, Congenital
  • Cerebellar Agenesis
  • Cerebellar Degeneration, Subacute
  • Cerebral Palsy
  • Cerebro Oculo Facio Skeletal Syndrome
  • Cerebrocostomandibular Syndrome
  • Chandler's Syndrome
  • Charcot Marie Tooth Disease
  • CHARGE Association
  • Chediak Higashi Syndrome
  • Chiari Frommel Syndrome
  • Chikungunya
  • Cholangitis, Primary Sclerosing
  • Cholecystitis
  • Chondrocalcinosis, Familial Articular
  • Choroideremia
  • Choroiditis, Serpiginous
  • Chromosome 1, Trisomy
  • 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, Monosomy 7p2
  • Chromosome 7, Trisomy
  • 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
  • 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 13, Trisomy
  • Chromosome 14 Ring
  • Chromosome 14, Trisomy Mosaic
  • Chromosome 15 Ring
  • Chromosome 15, Trisomy
  • Chromosome 15, Distal Trisomy 15q
  • Chromosome 16, Trisomy
  • Chromosome 18, Monosomy 18p
  • Chromosome 18, Ring
  • Chromosome 18, Tetrasomy 18p
  • Chromosome 18, Trisomy
  • Chromosome 18q- Syndrome
  • Chromosome 21 Ring
  • Chromosome 21, Ring Mosaic
  • Chromosome 21, Trisomy
  • Chromosome 22 Ring
  • Chromosome 22, Trisomy Mosaic
  • Chronic Inflammatory Demyelinating Polyneuropathy
  • Churg Strauss Syndrome
  • 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
  • Common Variable Immunodeficiency
  • Condroplasia Punctata
  • Cone Dystrophy
  • Congenital Heart Defect
  • Congenital Nephrosis
  • Conn Syndrome
  • Conradi Hunermann Syndrome
  • Cor Triatriatum
  • Corneal Dystrophy
  • Cornelia de Lange Syndrome
  • Coronary Artery Disease
  • Corticobasal Degeneration
  • Costello Syndrome
  • Craniofrontonasal Dysplasia
  • Craniometaphyseal Dysplasia
  • Craniosynostosis, Primary
  • Cri du Chat Syndrome
  • Crigler Najjar Syndrome Type I
  • Cronkhite Canada Disease
  • Crouzon Disease
  • Cryoglobulinemia, Essential Mixed
  • Cryptococcosis
  • Cutis Laxa
  • Cutis Marmorata Telangiectatica Congenita
  • Cyclic Vomiting Syndrome
  • Cystic Fibrosis
  • Cystic Hygroma
  • Cystinosis
  • Cystinuria
  • Cytochrome C Oxidase Deficiency

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D

  • Dandy Walker Malformation
  • Darier Disease
  • De Barsy Syndrome
  • De Santis Cacchione Syndrome
  • Degos Disease
  • Dejerine Sottas Disease
  • Depression
  • Dercum Disease
  • Dermatomyositis
  • Devic Disease
  • Dextrocardia with Situs Inversus
  • Diabetes, Insulin Dependent
  • Diaphragmatic Hernia
  • Diastrophic Dysplasia
  • Diencephalic Syndrome
  • DiGeorge Syndrome
  • Dilatation of the Pulmonary Artery, Idiopathic
  • DOOR Syndrome
  • Down Syndrome
  • Dracunculosis
  • Drash Syndrome
  • Dravet Syndrome
  • Duane Syndrome
  • Dubin Johnson Syndrome
  • Dubowitz Syndrome
  • Duhring Disease
  • Duodenal Atresia or Stenosis
  • Dyggve Melchior Clausen Syndrome
  • Dysautonomia, Familial
  • Dyschondrosteosis
  • Dyskeratosis Congenita
  • Dyslexia
  • Dysphonia, Chronic Spasmodic
  • Dysplasia, Epiphysealis Hemimelica
  • Dysplasia, Fibrous
  • Dysplastic Nevus Syndrome
  • Dystonia
  • Dystonia, Blepharospasm
  • Dystonia, Torsion
  • Dystrophy, Asphyxiating Thoracic
  • Dystrophy, Myotonic

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E

  • Eales Disease
  • Ear, Patella, Short Stature Syndrome
  • Eaton Lambert Syndrome
  • Ectodermal Dysplasias
  • Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate
  • Ehlers Danlos Syndrome
  • Ellis Van Creveld Syndrome
  • Emphysema, Congenital Lobar
  • Empty Sella Syndrome
  • Encephalocele
  • Endocardial Fibroelastosis (EFE)
  • Endomyocardial Fibrosis
  • Engelmann Disease
  • Eosinophilia Myalgia
  • Eosinophilic Fasciitis
  • Ependymona
  • Epidermal Nevus Syndrome
  • Epidermolysis Bullosa
  • Epidermolytic Hyperkeratosis
  • Epilepsy
  • Epilepsy, Myoclonic Progressive Familial
  • Epitheliopathy, Acute Posterior Multifocal Placoid Pigment
  • Erdheim Chester Disease
  • Erythema Multiforme
  • Erythrokeratodermia with Ataxia
  • Erythromelalgia
  • Erythropoietic Protoporphyria (EPP)
  • Esophageal Atresia and/or Tracheoesophageal Fistula
  • Essential Iris Atrophy
  • Exostoses, Multiple
  • Exstrophy of the Bladder

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F

  • Fabry Disease
  • Facioscapulomueral Muscular Dystrophy
  • Factor IX Deficiency
  • Factor XIII Deficiency
  • Fahr's Disease
  • Fairbank Disease
  • Farber's Disease
  • Fascioliasis
  • Felty Syndrome
  • Femoral
  • Facial Syndrome
  • Fetal Alcohol Syndrome
  • FG Syndrome
  • Fiber Type Disproportion, Congenital
  • Fibrodysplasia Ossificans Progressiva (FOP)
  • Fibromatosis, Congenital Generalized
  • Filippi Syndrome
  • Fitz Hugh Curtis Syndrome
  • Floating Harbor Syndrome
  • Focal Dermal Hypoplasia
  • Forbes Albright Syndrome
  • Forbes Disease
  • Forestier's Disease
  • 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

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G

  • Galactosemia
  • Galloway Mowat Syndrome
  • Gardner Syndrome
  • Gastritis, Giant Hypertrophic
  • 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 VIII
  • Goldenhar Syndrome (Oculo Auriculo Vertebral Spectrum)
  • Goodman Syndrome
  • Goodpasture Syndrome
  • Gordon Syndrome
  • Gorham's Disease
  • Gorlin Chaudhry Moss Syndrome
  • Gottron's Syndrome
  • Graft versus Host Disease
  • Granulomatosis, Lymphomatoid
  • Granulomatous Disease, Chronic
  • Greig Cephalopolysyndactyly Syndrome
  • Grover's Disease
  • Growth Delay, Constitutional
  • Growth Hormone Deficiency

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H

  • Hageman Factor Deficiency
  • Hajdu Cheney Syndrome
  • Hallermann Streiff syndrome
  • Hallervorden Spatz Disease
  • Hanhart Syndrome
  • Hartnup Disease
  • Hay Well's Syndrome
  • Heart Block, Congenital
  • Hemangioma Thrombocytopenia Syndrome
  • Hemochromatosis, Hereditary
  • Hemoglobinuria, Paroxysmal Cold
  • Hemoglobinuria, Paroxysmal Nocturnal
  • Hemophilia
  • Hemorrhagic Telangiectasia, Hereditary
  • Hepatic Fibrosis, Congenital
  • Hepatitis, Neonatal
  • Hepatorenal Syndrome
  • Hermansky Pudlak Syndrome
  • Hermaphroditism, True
  • Hers Disease
  • Hidradenitis Suppurativa
  • Hirschsprung's Disease
  • Histidinemia
  • Histiocytosis X
  • Holoprosencephaly
  • Holt Oram Syndrome
  • Homocystinuria
  • Horner's Syndrome
  • Human Granulocytic Ehrlichiosis (HGE)
  • Human Monocytic Ehrlichiosis (HME)
  • Hunter Syndrome
  • Huntington's Disease
  • Hurler Syndrome
  • Hutchinson Gilford Progeria Syndrome
  • Hydranencephaly
  • Hydrocephalus
  • Hydrops Fetalis
  • Hyper IgM Syndrome
  • Hyperchylomicronemia
  • Hyperexplexia
  • Hyperhidrosis, Primary
  • Hyperlipoproteinemia Type IV
  • Hyperostosis Frontalis Interna
  • Hyperoxaluria, Primary (Type I)
  • Hyperplasia, Right Ventricle
  • Hyperprolinemia Type I
  • Hyperprolinemia Type II
  • Hypochondroplasia
  • Hypohidrotic Ectodermal Dysplasia
  • Hypomelanosis of Ito
  • Hypoparathyroidism
  • Hypophosphatasia
  • Hypoplastic Left Heart Syndrome
  • Hypotonia, Benign Congenital

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I

  • I Cell Disease
  • Ichthyosis
  • Ichthyosis Congenita
  • Ichthyosis Hystrix, Curth Macklin Type
  • Ichthyosis Vulgaris
  • Ichthyosis, Chanarin Dorfman Syndrome
  • Ichthyosis, CHILD 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
  • IgA Nephropathy
  • Inclusion Body Myositis
  • Incontinentia Pigmenti
  • Interstitial Cystitis
  • Intestinal Pseudoobstruction
  • Isaacs' Syndrome
  • Ivemark Syndrome

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J

  • Jackson Weiss Syndrome
  • Jansen Type Metaphyseal Chondrodysplasia
  • Jarcho Levin Syndrome
  • Job Syndrome
  • Johanson Blizzard Syndrome
  • Joseph's Disease
  • Joubert Syndrome
  • Juberg Marsidi Syndrome

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K

  • Kabuki Make-up Syndrome
  • Kallmann Syndrome
  • Kartagener Syndrome
  • Kawasaki's Disease
  • KBG Syndrome
  • Kearns Sayre Syndrome (KSS)
  • Kennedy Disease
  • Kenny Caffe Syndrome
  • Keratitis Ichthyosis Deafness Syndrome
  • Keratoconus
  • Keratomalacia
  • Keratosis, Seborrheic
  • Kienbock Disease
  • Kikuchi's Disease
  • Kinsbourne Syndrome
  • Kleine Levin Syndrome
  • Klinefelter Syndrome
  • Klippel Feil Syndrome
  • Klippel Trenaunay Syndrome
  • Kluver Bucy Syndrome
  • Kniest Syndrome
  • Kohler Disease
  • Korsakoff's Syndrome
  • Krabbe's Disease
  • Kufs Disease
  • Kugelberg Welander Syndrome

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L

  • Laband Syndrome
  • Lactose Intolerance
  • LADD Syndrome
  • Landau Kleffner Syndrome
  • Laron Dwarfism
  • Larsen Syndrome
  • Laurence Moon Syndrome
  • Leber's Congenital Amaurosis
  • Leber's Optic Atrophy
  • Legg Calve Perthes Disease
  • Legionnaire's Disease
  • Leigh's Disease
  • Leiner Disease
  • Lennox Gastaut Syndrome
  • Lenz Microphthalmia Syndrome
  • LEOPARD Syndrome
  • Leprechaunism
  • Leri Pleonosteosis
  • Lesch Nyhan Syndrome
  • Leukodystrophy
  • Leukodystrophy, Canavan's
  • Leukodystrophy, Krabbe's
  • Leukodystrophy, Metachromatic
  • Leukodystrophy, Sudanophilic
  • Leukoencephalopathy
  • Lichen Planus
  • Lichen Sclerosus
  • Lipodystrophy
  • Lissencephaly
  • Locked In Syndrome
  • Loken Senior Syndrome
  • Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)
  • Lowe's Syndrome
  • Lupus
  • Lyelles Syndrome
  • Lymphadenopathy, Angioimmunoblastic with Dysproteinemia
  • Lymphangioleiomyomatosis
  • Lymphangioma, Cavernous
  • Lymphedema, Hereditary
  • Lymphocytic Infiltrate of Jessner
  • Lynch Syndromes

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M

  • Macular Degeneration
  • Macular Degeneration, Polymorphic
  • Madelung's Disease
  • Maffucci Syndrome
  • Malignant Hyperthermia
  • Mannosidosis
  • Maple Syrup Urine Disease
  • Marden Walker Syndrome
  • Marfan Syndrome
  • Marinesco Sjogren Syndrome
  • Maroteaux Lamy Syndrome
  • Marshall Smith Syndrome
  • Marshall Syndrome
  • MASA Syndrome
  • Mastocytosis
  • Maxillofacial Dysostosis
  • Maxillonasal Dysplasia, Binder Type
  • May Hegglin Anomaly
  • McArdle Disease
  • McCune Albright Syndrome
  • McKusick Type Metaphyseal Chondrodysplasia
  • Meckel Syndrome
  • Medium Chain Acyl CoA Dehydrogenase Deficiency
  • Medullary Cystic Disease
  • Medullary Sponge Kidney
  • Megalocornea Mental Retardation Syndrome
  • Meige Syndrome
  • MELAS Syndrome
  • Meleda Disease
  • Melkersson Rosenthal Syndrome
  • Melnick Needles Syndrome
  • Meniere Disease
  • Meningioma
  • Menkes Disease
  • MERRF Syndrome
  • Mesenteritis, Retractile
  • Metatropic Dysplasia I
  • Microcephaly
  • Microvillus Inclusion Disease
  • Mikulicz Syndrome
  • Miller Syndrome
  • Mitral Valve Prolapse Syndrome
  • Mixed Connective Tissue Disease (MCTD)
  • Moebius Syndrome
  • Monilethrix
  • Morquio Syndrome
  • Motor Neuron Disease
  • Moyamoya Disease
  • Mucha Habermann Disease
  • Mucolipidosis IV
  • Mucopolysaccharidosis
  • Mulibrey Nanism Syndrome (Perheentupa Syndrome)
  • Mullerian Aplasia
  • Multiple Sclerosis
  • Multiple Sulfatase Deficiency
  • Mulvihill Smith Syndrome
  • MURCS Association
  • Muscular Dystrophy, Becker
  • Muscular Dystrophy, Duchenne
  • Muscular Dystrophy, Emery Dreifuss
  • Muscular Dystrophy, Fukuyama Type
  • Muscular Dystrophy, Landouzy Dejerine
  • Muscular Dystrophy, Limb Girdle
  • Muscular Dystrophy, Oculo Gastrointestinal
  • Mutism, Selective
  • Mycosis Fungoides
  • Myelitis
  • Myelofibrosis, Idiopathic
  • Myeloma, Multiple
  • Myelomeningocele
  • Myhre Syndrome
  • Myoclonus, General
  • Myopathy, Congenital, Batten Turner Type
  • Myopathy, Desmin Storage
  • Myopathy, Myotubular
  • Myopathy, Scapuloperoneal
  • Myositis, Inclusion Body
  • Myotonia Congenita

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N

  • N-Acetyl Glutamate Synthetase Deficiency
  • Nager Syndrome
  • Nail Patella Syndrome
  • Nelson Syndrome
  • Nemaline Myopathy
  • Neu Laxova Syndrome
  • Neural Tube Defect
  • Neuroacanthocytosis
  • Neurofibromatosis Type 1
  • Neurofibromatosis Type 2
  • Neuroleptic Malignant Syndrome
  • Neuronal Ceroid Lipofuscinosis
  • 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
  • Non Ketotic Hyperglycinemia
  • Noonan Syndrome
  • Norrie Syndrome

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O

  • Ochoa Syndrome
  • Oculo Dento Digital Dysplasia
  • Oculocerebral Syndrome with Hypopigmentation
  • Oculocerebrocutaneous Syndrome
  • Oligohydramnios
  • Olivopontocerebellar Atrophy
  • Ollier Disease
  • Opitz Syndrome
  • Oral Facial Digital Syndrome
  • Orbital Encephalocele
  • Ornithine Transcarbamylase Deficiency
  • Orocraniodigital Syndrome
  • Osteogenesis Imperfecta
  • Osteomyelitis
  • Osteonecrosis
  • Osteopetrosis
  • Oto Palato Digital Syndrome Type I and II

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P

  • Pachydermoperiostosis
  • Paget's Disease
  • Paget's Disease of the Breast
  • Pallister Hall Syndrome
  • Pallister Killian Mosaic Syndrome
  • Pallister W Syndrome
  • Papillitis
  • Papillon Lefevre Syndrome
  • Paracoccidioidomycosis
  • Paramyotonia Congenita
  • Paraplegia, Hereditary Spastic
  • Parkinson's Disease
  • Parkinson's Disease, Idiopathic
  • Parry Romberg Syndrome
  • Pars Planitis
  • Parsonage Turner Syndrome
  • Patulous Eustachian Tube
  • Peeling Skin Syndrome
  • Pelizaeus Merzbacher Brain Sclerosis
  • Pemphigoid, Benign Mucosal
  • Pemphigus
  • Penta X Syndrome
  • Pentalogy of Cantrell
  • PEPCK Deficiency, Mitochondrial
  • Perisylvian Syndrome, Congenital Bilateral
  • Perniosis
  • Peroxisomal Disorder
  • Peutz Jeghers Syndrome
  • Peyronie Disease
  • Pfeiffer Syndrome Type I
  • Phenylketonuria
  • Pheochromocytoma
  • Phocomelia Syndrome
  • Phosphoglycerate Kinase Deficiency
  • Pick's Disease
  • Pierre Robin Syndrome
  • Pinta
  • Pityriasis Rubra Pilaris
  • Pneumonia, Eosinophilic
  • Pneumonia, Interstitial
  • POEMS Syndrome
  • Poland Syndrome
  • Polyarteritis Nodosa
  • Polychondritis
  • Polycystic Kidney Diseases
  • Polycystic Liver Disease
  • Polycythemia Vera
  • Polyglucosan Body Disease, Adult
  • Polyhydramnios
  • Polymyalgia Rheumatica
  • Polymyositis
  • Polyposis, Familial
  • Pompe Disease
  • Popliteal Pterygium Syndrome
  • Porphyria
  • Porphyria Cutanea Tarda
  • Porphyria, Acute Intermittent
  • Porphyria, ALA-D
  • Porphyria, Congenital Erythropoietic
  • Porphyria, Hereditary Coproporphyria
  • Porphyria, Variegate
  • Post Polio Syndrome
  • Posterior Urethral Valve Obstruction
  • Prader Willi Syndrome
  • Precocious Puberty
  • Primary Lateral Sclerosis
  • Progressive Osseous Heteroplasia (POH)
  • Progressive Supranuclear Palsy
  • Proteus Syndrome
  • Prune Belly Syndrome
  • Pseudo Hurler Polydystrophy
  • Pseudocholinesterase Deficiency
  • Pseudohypoparathyroidism
  • Pseudomyxoma Peritonei
  • Pseudotumor Cerebri
  • Pseudoxanthoma Elasticum (PXE)
  • Pterygium Syndrome, Multiple
  • Pulmonary Alveolar Proteinosis
  • Pulmonary Hypertension, Primary
  • Pulmonary Hypertension, Secondary
  • Pure Red Cell Aplasia, Acquired
  • Pyknodysostosis
  • Pyoderma Gangrenosum
  • Pyruvate Carboxylase Deficiency
  • Pyruvate Dehydrogenase Deficiency
  • Pyruvate Kinase Deficiency

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Q

  • Q Fever

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R

  • Rapp Hodgkin Syndrome
  • Recurrent Respiratory Papillomatosis
  • Reflex Sympathetic Dystrophy Syndrome (RSDS)
  • Refsum Syndrome
  • Reifenstein Syndrome
  • Reiter's Syndrome
  • Renal Agenesis, Bilateral
  • Renal Glycosuria
  • Respiratory Distress Syndrome, Adult
  • Respiratory Distress Syndrome, Infant
  • Restless Legs Syndrome
  • Retinitis Pigmentosa
  • Retinoblastoma
  • Retinoschisis
  • Retrolental Fibroplasia
  • Retroperitoneal Fibrosis
  • Rett Syndrome
  • Reye Syndrome
  • Rieger Syndrome
  • Roberts Syndrome
  • Robinow Syndrome
  • Romano Ward Syndrome
  • Rosenberg Chutorian Syndrome
  • Rothmund Thomson Syndrome
  • Roussy Levy Syndrome
  • Rubinstein Taybi Syndrome
  • Russell Silver Syndrome (RSS)
  • Ruvalcaba Syndrome

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S

  • Saethre Chotzen Syndrome
  • Sakati Syndrome
  • Sandhoff Disease
  • Sanfilippo Syndrome
  • Santavuori Disease
  • Sarcoidosis
  • Schindler Disease
  • Schinzel Giedion Syndrome
  • Schinzel Syndrome
  • Schmid Type Metaphyseal Chondrodysplasia
  • Schmidt Syndrome
  • Schwartz Jampel Syndrome
  • Schizophrenia
  • Scleroderma
  • Scoliosis
  • Scott Craniodigital Syndrome With Mental Retardation
  • Seckel Syndrome
  • Seitelberger Disease (Infantile Neuroaxonal Dystrophy)
  • Seizure Disorder
  • Sennetsu Fever
  • Septo Optic Dysplasia
  • Setleis Syndrome
  • Severe Combined Immunodeficiency
  • Sheehan Syndrome
  • Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)
  • SHORT Syndrome
  • Shwachman Syndrome
  • Shy Drager Syndrome
  • Sialadenitis
  • Sialidosis
  • Sickle Cell Disease
  • Simpson Dysmorphia Syndrome
  • Singleton Merten Syndrome
  • Sirenomelia Sequence
  • Sjogren Syndrome
  • Skeletal Dysplasia
  • Sleep Apnea
  • Sly Syndrome
  • Smith Lemli Opitz Syndrome
  • Smith Magenis Syndrome
  • Sneddon Syndrome
  • Sotos Syndrome
  • Spasmodic Torticollis
  • Spina Bifida
  • Split Hand Deformity
  • Spondyloepiphyseal Dysplasia Tarda
  • Spondyloepiphyseal Dysplasia, Congenital
  • Sprengel Deformity
  • Stein Levanthal Syndrome
  • Stickler Syndrome
  • Stiff Person Syndrome
  • Sturge Weber Syndrome
  • Sucrose Isomaltose Malabsorption, Congenital
  • Sudden Infant Death Syndrome
  • Summitt Syndrome
  • Sutton's Disease II
  • Sweet Syndrome

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T

  • 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
  • Thanatrophic Dwarfism
  • Three M Syndrome
  • Thrombasthenia of Glanzmann and Naegeli
  • Thrombocythemia, Essential
  • Thrombocytopenia Absent Radius Syndrome
  • Thrombocytopenia, Essential
  • Tietze Syndrome
  • Tinnitus
  • Tolosa Hunt Syndrome
  • Tooth and Nail Syndrome
  • Tourette Syndrome
  • Townes Brocks Syndrome
  • Tracheal Atresia
  • Treacher Collins Syndrome
  • Tricho Dento Osseous Syndrome
  • Trichorhinophalangeal Syndrome Type I
  • Trichorhinophalangeal Syndrome Type II
  • Trichorhinophalangeal Syndrome Type III
  • 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
  • Turner Syndrome
  • Tyrosinemia, Hereditary

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U

  • Usher's Syndrome

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V

  • Valinemia
  • Vascular Malformations of the Brain
  • Vasculitis, Cutaneous Necrotizing
  • Velocardiofacial Syndrome
  • Ventricular Septal Defects
  • Vitamin B12 Deficiency
  • Vitamin E Deficiency
  • Vogt Koyanagi Harada Syndrome
  • Von Gierke Disease
  • Von Hippel Lindau Disease
  • Von Willebrand Disease

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W

  • Waardenburg Syndrome
  • WAGR 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
  • Wells Syndrome
  • Werdnig Hoffman Disease
  • Werner Syndrome
  • 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

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X

  • X linked Juvenile Retinoschisis
  • X linked Lymphoproliferative Syndrome
  • Xeroderma Pigmentosum
  • XYY Syndrome

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Y

  • Yaws
  • Yellow Nail Syndrome
  • Yunis Varon Syndrome

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Z

  • Zellweger Syndrome
  • Zollinger Ellison Syndrome

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