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

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

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

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

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

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

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

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

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

J

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

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

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

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

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

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

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

Q

Q Fever

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

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

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

U

Usher's Syndrome

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

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

X

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

Y

Yaws
Yellow Nail Syndrome
Yunis Varon Syndrome

Z

Zellweger Syndrome
Zollinger Ellison Syndrome