Rare diseases considered by Dr. Rachael
|
Currently included (750)
|
Under consideration (400)
|
Not included (52)
|
Crohn's Disease |
|
Great vessels transposition |
Acromegaly |
|
Proteus syndrome |
Lyme Disease |
|
Neurofibromatosis |
Meningitis |
|
Monoclonal Gammopathy of Undetermined Significance |
Porphyria |
|
Oculocutaneous albinism |
Dercum's Disease |
|
streptococci |
Multiple Sclerosis |
|
Meyer Dysplasia |
Neuromyelitis Optica (Devic Disease) |
|
Staphylococci |
Pulmonary Arterial Hypertension |
|
Fitzsimmons Walson Mellor syndrome |
Hemophilia |
|
Fibrochondrogenesis |
Guillain-Barre syndrome |
|
pneumococci |
Madelung’s disease |
|
astroblastoma |
Marfan syndrome |
|
Actinic lichen planus |
Parsonage Turner Syndrome |
|
Aldred syndrome |
Congenital Contractural Arachnodactyly |
|
Ameloblastoma |
Addison’s Disease |
|
Apocrine carcinoma |
Ramsay Hunt Syndrome |
|
Boudhina Yedes Khiari syndrome |
Tay-Sachs Disease |
|
Calvarial hiperostosis |
Sandhoff Disease |
|
Chancroid |
Kufs Disease |
|
Hydrops fetalis |
Kawasaki Disease |
|
Nodding syndrome |
Toxic Shock Syndrome |
|
Papilledema |
Wegener’s Granulomatosis |
|
Renal oncocytoma |
Goodpasture Syndrome |
|
Somatostatinoma |
Cushing Syndrome |
|
Familial streblodactyly |
Mitral Valve Prolapse Syndrome |
|
Cartwright Nelson Fryns syndrome |
Myasthenia Gravis |
|
Angiomyomatous Hamartoma |
Lambert-Eaton Myasthenic Syndrome |
|
Diphallia |
Reflex Sympathetic Dystrophy Syndrome |
|
Duplication of leg mirror foot |
Erythromelalgia |
|
Pheochromocytoma |
Polycythemia Vera |
|
Pinta |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Kleiner Holmes syndrome |
Amyloidosis |
|
Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities |
Multiple Myeloma |
|
Potato nose |
Whipple Disease |
|
Sialadenitis |
Osteomyelitis |
|
Sitosterolemia |
Waldenström's Macroglobulinemia |
|
Cicatricial Alopecia |
Maple Syrup Urine Disease |
|
Oslam syndrome |
Balantidiasis |
|
Renoprival hypertension |
Pantothenate kinase-associated neurodegeneration (PKAN) |
|
Tetanus |
Methylmalonic Acidemia |
|
Histidinemia |
Winchester Syndrome |
|
Dwarfism Levi type |
Farber’s Disease |
|
Dystelephalangy |
Moyamoya Disease |
|
Scurvy |
Sickle Cell Disease |
|
Breast cancer, familial |
Hereditary Spherocytic Hemolytic Anemia |
|
Stargardt disease |
Restless Legs syndrome |
|
Alopecia Areata |
Refsum Disease |
|
Melanoma, familial |
Adrenoleukodystrophy |
|
Diaphragmatic hernia, congenital |
Metachromatic Leukodystrophy |
|
Oesophageal atresia |
Alexander Disease Type I |
|
Familial adenomatous polyposis |
Alexander Disease Type II |
|
Kostmann disease |
Ogilvie syndrome |
|
|
Chronic Intestinal Pseudo-obstruction |
|
Achondrogenesis |
|
Kniest Dysplasia |
|
Campomelic Syndrome |
|
Hypophosphatasia |
|
Morquio Syndrome |
|
Osteogenesis Imperfecta Type I |
|
Osteogenesis Imperfecta Type II |
|
Osteogenesis Imperfecta Type III |
|
Osteogenesis Imperfecta Type IV |
|
Mumps |
|
Leigh Syndrome |
|
Gilbert syndrome |
|
Dubin Johnson Syndrome |
|
Crigler Najjar Syndrome |
|
Babesiosis |
|
TORCH Syndrome |
|
Vogt-Koyanagi-Harada Disease |
|
Usher Syndrome Type I |
|
Usher Syndrome Type II |
|
Usher Syndrome Type III |
|
Usher Syndrome Type IV |
|
Alström Syndrome |
|
Retinitis Pigmentosa |
|
Leber's Congenital Amaurosis |
|
Joubert Syndrome |
|
Meckel Syndrome |
|
Dubowitz Syndrome |
|
Noonan Syndrome |
|
Turner Syndrome |
|
Klinefelter Syndrome |
|
Kallmann Syndrome |
|
Acoustic Neuroma |
|
Ménière’s Disease |
|
Creutzfeldt Jakob Disease |
|
Gerstmann Syndrome |
|
Kikuchi’s Disease |
|
Hodgkin’s Disease |
|
Köhler Disease |
|
Tarsal Tunnel syndrome |
|
Sweet Syndrome |
|
Schnitzler Syndrome |
|
Familial Mediterranean Fever |
|
Familial Cold Autoinflammatory Syndrome |
|
Cogan-Reese Syndrome |
|
Chandler’s Syndrome |
|
Essential Iris Atrophy |
|
Rieger Syndrome |
Carnosinemia |
Phenylketonuria |
Cerebral Palsy: Tetrahydrobiopterin Deficiency |
Progressive Multifocal Leukoencephalopathy |
Paget’s disease |
Pallister Hall Syndrome |
Aarskog Syndrome |
Abetalipoproteinemia |
Ablepharon-Macrostomia Syndrome |
Acquired Aplastic Anemia |
Aceruloplasminemia |
Acidemia Isovaleric |
Yellow Nail syndrome |
Weil Syndrome |
Adult Neuronal Ceroid Lipofuscinosis |
Unverricht-Lundborg Disease |
Legg Calvé Perthes Disease |
Spondyloepiphyseal Dysplasia Tarda |
Fitz Hugh Curtis Syndrome |
Cholecystitis |
Fox Fordyce Disease |
Hidradenitis Suppurativa |
Keratosis Follicularis |
Fibrodysplasia Ossificans Progressiva |
Glucose Transporter Type 1 Deficiency Syndrome |
Lymphangioleiomyomatosis |
Langerhans Cell Histiocytosis |
Rosai-Dorfman Disease |
Erdheim Chester Disease |
Erysipelas |
Essential Tremor |
Q fever |
Epidermolysis Bullosa |
Peeling Skin Syndrome |
Leber Hereditary Optic Neuropathy |
Fatal Familial Insomnia |
Dupuytren’s Contracture |
Dravet Syndrome Spectrum |
Duchenne Muscular Dystrophy |
Dysautonomia, Familial |
Dyskeratosis Congenita |
L1 Syndrome |
Lenz Microphthalmia Syndrome |
Nance-Horan Syndrome |
Oculo-Dento-Digital Dysplasia |
Hartnup Disease |
Hajdu Cheney Syndrome |
Hantavirus Pulmonary Syndrome |
Henoch-Schönlein Purpura |
Hereditary Coproporphyria |
Hermansky Pudlak Syndrome |
Holt Oram Syndrome |
Hyperekplexia |
Hyperlipoproteinemia Type III |
Hypochondroplasia |
Hypohidrotic Ectodermal Dysplasia |
Amyotrophic Lateral Sclerosis |
Lipoprotein Lipase Deficiency |
Choroideremia |
Transthyretin Amyloidosis |
Susac’s syndrome |
Huntington disease |
Urbach-Wiethe Disease |
Hemochromatosis |
Hemophagocytic Lymphohistiocytosis |
Friedreich’s Ataxia |
Mastocytosis |
Bardet-Biedl Syndrome |
Gaucher disease |
Senior-Loken Syndrome |
Muckle-Wells Syndrome |
Churg-Strauss syndrome |
Sennetsu Fever |
Seckel Syndrome |
Homocystinuria |
Trisomy 13 Syndrome |
Bloom Syndrome |
Still’s disease |
Trigeminal Neuralgia |
Hailey-Hailey Disease |
Charcot-Marie-Tooth Disease |
Acid sphingomyelinase deficiency |
Gerstmann-Sträussler-Scheinker Disease |
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome |
Moebius syndrome |
CHARGE Syndrome |
Primary Sclerosing Cholangitis |
Achondroplasia |
Primary Myelofibrosis |
Kugelberg Welander Syndrome |
Oral-Facial-Digital Syndrome |
Essential Thrombocythemia |
Chronic Erosive Gastritis |
Chronic Infantile Neurological Cutaneous Articular (CINCA) syndrome |
Dejerine-Sottas disease |
Human Granulocytic Ehrlichiosis (HGE) |
Costello syndrome |
Acute flaccid myelitis (AFM) |
Klippel-Trenaunay Syndrome |
Incontinentia pigmenti |
Aicardi syndrome |
CADASIL |
Li-Fraumeni syndrome |
Castleman disease |
Kabuki syndrome |
Cerebrotendinous xanthomatosis |
Larsen syndrome |
Kearns-Sayre syndrome |
Cockayne syndrome |
Cohen syndrome |
Silver-Russell syndrome |
Denys-Drash syndrome |
CHILD syndrome |
Waardenburg syndrome |
Schinzel-Giedion syndrome |
Pallister-Killian syndrome |
Systemic Capillary Leak Syndrome |
Acrocallosal syndrome, Schinzel type |
Alpha Thalassemia X-linked Intellectual Disability Syndrome |
McCune Albright syndrome |
Job syndrome |
Alpha-1 Antitrypsin Deficiency |
Chromosome 22q11.2 Deletion Syndrome |
Treacher Collins Syndrome |
Tumor-induced osteomalacia |
Parry Romberg Syndrome |
Idiopathic Pulmonary Fibrosis |
Macrophagic myofasciitis |
Congenital Disorders of Glycosylation |
Coffin Siris Syndrome |
Brugada Syndrome |
Tetralogy of Fallot |
Scleroderma |
Dystonia |
Mantle Cell Lymphoma |
Narcolepsy |
Neurofibromatosis 1 |
Coffin-Lowry Syndrome |
Hereditary Hemorrhagic Telangiectasia |
Dermatitis Herpetiformis |
Duodenal Atresia |
Ehlers Danlos Syndromes |
Hirschsprung disease |
Hereditary Spherocytosis |
MELAS syndrome |
Lennox-Gastaut Syndrome |
Fragile X Syndrome |
Stickler Syndrome |
Williams Syndrome |
Spinal muscular atrophy |
Tuberous Sclerosis |
Rett syndrome |
Von Hippel-Lindau Disease |
Mucopolysaccharidosis |
Polymyositis and Necrotizing Myopathy |
Cystic fibrosis |
Mevalonate Kinase Deficiency |
Blau syndromes |
Fabry Disease |
Sialidosis |
I-cell disease |
Pseudo-Hurler polydystrophy |
Mucolipidosis IV |
Pompe disease |
Marshall Syndrome |
Wolf-Hirschhorn Syndrome |
Diamond Blackfan Anemia |
Lesch-Nyhan syndrome |
Prader-Willi Syndrome |
Smith-Magenis Syndrome |
Angelman syndrome |
Ataxia with Vitamin E Deficiency |
Galactosemia |
Glycogen Storage Disease Type III |
Severe Chronic Neutropenia |
Gastrointestinal Stromal Tumors |
Multiple Endocrine Neoplasia Type 1 |
VACTERL association |
Behçet's syndrome |
Congenital central hypoventilation syndrome |
Phelan-McDermid syndrome |
Optic Nerve Hypoplasia |
Ocular Albinism |
Chediak Higashi Syndrome |
Apert Syndrome |
Landau Kleffner Syndrome |
Trisomy 18 |
Beckwith-Wiedemann Syndrome |
Hereditary Fructose Intolerance |
Primary ciliary dyskinesia |
Progressive supranuclear palsy |
Juvenile CLN3 disease |
Classic infantile CLN1 disease |
Myotonic Dystrophy |
Propionic Acidemia |
Oculo-Auriculo-Vertebral Spectrum |
ADNP Syndrome |
Menkes Disease |
POEMS syndrome |
Pyoderma gangrenosum |
Cystinosis |
Lowe syndrome |
Kennedy Disease |
Dermatomyositis |
Variegate Porphyria |
Empty Sella Syndrome |
Familial Adenomatous Polyposis |
Ewing Sarcoma |
Stargardt disease |
Rubinstein-Taybi syndrome |
Wilson disease |
Biotinidase deficiency |
Nemaline Myopathy |
Cryptococcosis |
Hypokalemic periodic paralysis |
Emery Dreifuss Muscular Dystrophy |
Ataxia Telangiectasia |
Okihiro syndrome |
Pyknodysostosis |
Osteopetrosis |
Lewis-Sumner syndrome |
Anemia, Hemolytic, Cold Antibody |
Jansky-Bielschowsky disease |
Sarcoidosis |
Plasma cell leukemia |
Freeman-Sheldon syndrome |
Gastritis, Giant Hypertrophic |
Rocky Mountain Spotted Fever |
Wernicke-Korsakoff Syndrome |
Human Monocytic Ehrlichiosis (HME) |
Bell’s Palsy |
Leukodystrophy, Krabbe’s |
Beta Thalassemia |
Alpha Thalassemia |
Glutaric Aciduria Type I |
Glutaric Aciduria Type II |
Astrocytoma |
Pelizaeus-Merzbacher disease |
Acquired immune deficiency syndrome |
Nephronophthisis |
COACH syndrome |
Lymphatoid granulomatosis |
Idiopathic pulmonary hemosiderosis |
Polyarteritis nodosa |
Multifocal motor neuropathy |
Smith-Lemli-Opitz (SLO) syndrome |
Multicentric osteolysis, nodulosis and arthropathy |
Burkitt’s lymphoma |
Lafora disease |
Spondyloepiphyseal Dysplasia, Congenital |
Dyggve Melchior Clausen syndrome |
Chronic inflammatory demyelinating polyradiculoneuropathy |
Central Pain Syndrome |
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) |
Erythema Multiforme |
Cole Carpenter syndrome |
Dekaban-Arima syndrome |
Chronic Myelogenous Leukemia |
Meningioma |
Frontotemporal dementia |
Jumping Frenchmen of Maine |
Townes Brocks Syndrome |
Ivemark syndrome |
Chromosome 10, Distal Trisomy 10q |
Dominant Multiple Epiphyseal Dysplasia |
Primary Biliary Cholangitis |
Canavan disease |
Neuropathy ataxia retinitis pigmentosa syndrome |
Hereditary Neuralgic Amyotrophy |
Familial multiple lipomatosis |
Multiple system atrophy |
Schmidt syndrome |
Fetal alcohol syndrome |
Fanconi Anemia |
Pachydermoperiostosis |
Cardiofaciocutaneous syndrome |
Neurofibromatosis-Noonan syndrome |
Cyclic vomiting syndrome |
Cone dystrophy |
Anemia, Hereditary Nonspherocytic Hemolytic |
Zellweger Spectrum Disorders |
Eosinophilic Fasciitis |
Ocular Motor Apraxia, Cogan Type |
Familial Hypophosphatemia |
Thyroid Cancer |
Chiari Malformations |
Ectodermal Dysplasias |
X-linked adrenal hypoplasia congenita |
Congenital adrenal hyperplasia |
Psittacosis |
Iris hypoplasia and glaucoma |
Urea cycle disorders |
Primary Mitochondrial Myopathies |
Severe Combined Immunodeficiency |
Agammaglobulinemia |
Rasmussen Encephalitis |
Congenital Muscular Dystrophy |
Mucopolysaccharidosis Type III |
Langer Giedion Syndrome |
Alkaptonuria |
Nakajo syndrome |
Osteosarcoma |
hypereosinophilic syndrome |
Blastomycosis |
Lichtenstein syndrome |
Cherubism |
Insulinoma |
Madelung deformity |
Bassoe syndrome |
Acromicric dysplasia |
Tetraploidy |
Syringomyelia |
Swyer syndrome |
Acrodysostosis |
Anorchia |
Atransferrinemia |
Barakat syndrome |
Cysticercosis |
Cystinuria |
Danon disease |
Darier disease |
Desmoid tumor |
Dirofilariasis |
DOOR syndrome |
Feingold syndrome |
Flynn Aird syndrome |
Frasier syndrome |
Frias syndrome |
Fucosidosis |
Wagner syndrome |
Warfarin syndrome |
West syndrome |
Mycetoma |
Muenke Syndrome |
Micro syndrome |
Martsolf syndrome |
Kanzaki disease |
Griscelli syndrome |
Dravet syndrome |
Diencephalic syndrome |
Dent disease |
Dengue fever |
Cyclic neutropenia |
Cutis marmorata telangiectatica congenita |
Cutis laxa |
Takayasu arteritis |
TAR syndrome |
Tangier disease |
Piebaldism |
Perrault syndrome |
Pearson syndrome |
Ollier disease |
Oliver syndrome |
Norrie disease |
Mullerian aplasia |
Mulibrey Nanism |
Milroy disease |
Miller syndrome |
Microscopic polyangiitis |
Metatropic dysplasia |
Malakoplakia |
Listeria infection |
LEOPARD syndrome |
Jeune syndrome |
Hypothalamic hamartomas |
Hypomelanosis of Ito |
Heavy metal poisoning |
Gomez Lopez Hernandez syndrome |
Gitelman syndrome |
Kyphomelic dysplasia |
Rhizomelic chondrodysplasia punctata |
Free sialic acid storage disease |
Frontonasal dysplasia |
Aagenaes syndrome |
Acrodermatitis enteropathica |
Adie syndrome |
Lujan syndrome |
Dysferlinopathy |
Björnstad Syndrome |
Fraser Syndrome |
Genoa syndrome |
Krabbe disease |
Harding ataxia |
Wagner syndrome |
IRVAN syndrome |
Buerger’s Disease |
Mevalonic aciduria |
Cat scratch disease |
Evans Syndrome |
Neu Laxova Syndrome |
Antley-Bixler Syndrome |
Felty Syndrome |
Filippi Syndrome |
Hemi 3 syndrome |
Pachygyria |
Degos disease |
Rubella, Congenital |
Botulism |
Tyrosine Hydroxylase Deficiency |
Hereditary Angioedema |
Non-24-Hour Sleep-Wake Disorder |
Barth syndrome |
Kaposi sarcoma |
Sturge-Weber Syndrome |
Keratoconus |
Catel-Manzke syndrome |
Arthrogryposis Multiplex Congenita |
Spinal Muscular Atrophy with Respiratory Distress |
Duane syndrome |
Limb-Girdle Muscular Distrophies |
Alternating Hemiplegia of Childhood |
Filippi syndrome |
Focal dermal hipoplasia |
Fountain syndrome |
Hydranencephaly |
IgA nephropathy |
Inclusion body myositis |
Melkersson-Rosenthal syndrome |
Glanzmann Thrombasthenia |
Nakajo-Nishimura syndrome |
Ichthyosis, Netherton Syndrome |
Simian B Virus Infection |
Primary Visual Agnosia |
Caudal Regression Syndrome |
Graves’ Disease |
Blue diaper syndrome |
Fryns Syndrome |
Hanhart syndrome |
Antiphospholipid syndrome |
Sutton Disease II |
Physical Allergy Urticaria |
Snyder-Robinson Syndrome |
Sotos syndrome |
Meige Syndrome |
Banti’s Syndrome |
Bowenoid Papulosis |
Brown Syndrome |
Seatworm Infection |
Fascioliasis |
Meleda Disease |
Mikulicz Syndrome |
Optic Nerve Papillitis |
Papillon-Lefèvre Syndrome |
Poland Syndrome |
Potter syndrome |
Proctitis |
Pyruvate Kinase Deficiency |
Radiation Sickness |
Reye Syndrome |
Renal Glycosuria |
Adenylosuccinase deficiency |
Alport syndrome
|
Bronchiolitis Obliterans Organizing Pneumonia |
Cantu syndrome |
Carney triad |
Neonatal progeroid syndrome |
Peutz-Jeghers syndrome |
Retinoschisis |
Kernicterus |
Growth Hormone Insensitivity |
Sporadic Porencephaly |
Nail-patella Syndrome |
Transverse Myelitis |
Retroperitoneal Fibrosis |
Fibrosing Mediastinitis |
Alagille Syndrome |
Tarlov Cysts |
Pityriasis Rubra Pilaris |
Erythrokeratoderma |
Hereditary mucoepithelial dysplasia |
Emanuel syndrome |
Central Core Disease |
Gastroparesis |
Acute disseminated encephalomyelitis |
Chronic lymphocytic leukemia |
Riboflavin Transporter Deficiency |
Nonketotic Hyperglycinemia |
Hydrocephalus |
Congenital Generalized Lipodystrophy |
Bartonellosis |
Acquired Lipodystrophy |
Ulcerative Colitis |
Infective Endocarditis |
Leptospirosis |
Systemic Scleroderma |
Hallermann Streiff Syndrome |
Freiberg’s Disease |
Smith Lemli Opitz Syndrome |
Dandy-Walker Malformation |
Familial Hypophosphatemia |
Corticobasal Degeneration |
Rabson-Mendenhall Syndrome |
Obesity due to congenital leptin deficiency |
Psoriatic juvenile idiopathic arthritis |
Thoracic Outlet Syndrome |
Leri Pleonosteosis |
Chromosome 14 Ring |
Vitamin D Deficiency Rickets |
Short Bowel Syndrome |
Reactive Arthritis |
Retinoblastoma |
Atypical hemolytic uremic syndrome |
Paroxysmal Nocturnal Hemoglobinuria |
Neuromyelitis optica spectrum disorder |
Wolman Disease |
Cholesteryl ester storage disease |
Wolf-Hirschhorn |
Maroteaux-Lamy syndrome |
Mucormycosis |
Acute Respiratory Distress Syndrome |
ACTH deficiency |
Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) |
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia |
Alpers Disease |
Antisynthetase Syndrome |
Atrial Septal Defects |
Adult polyglucosan body disease |
Acute Cholecystitis |
Balo Disease |
Bejel |
Bernard-Soulier Syndrome |
Berylliosis |
Best Vitelliform Macular Dystrophy |
Binswanger disease |
Birt-Hogg-Dubé Syndrome |
Bowen Disease |
Bowenoid Papulosis |
Brown Séquard Syndrome |
Budd Chiari Syndrome |
Craniopharyngioma |
COPA syndrome |
Complex Regional Pain Syndrome |
Chronic Granulomatous Disease |
Serpiginous Choroiditis |
Chilaiditi’s syndrome |
Cervical Dystonia |
Cavernous Malformation |
Catamenial Pneumothorax |
Caroli Disease |
CARASIL |
Camurati-Engelmann Disease |
Cronkhite-Canada Syndrome |
Facioscapulohumeral Muscular Dystrophy |
Fibrosing Mediastinitis |
Focal Segmental Glomerulosclerosis |
Functional Neurological Disorder |
Giant Cell Arteritis |
GNE Myopathy |
Gorham-Stout Disease |
Hemiplegic Migraine |
Huntington’s Disease |
Acquired Hemophilia |
Acquired Neuromyotonia |
Acute Eosinophilic Pneumonia |
Acute Intermittent Porphyria |
Acute Myeloid Leukemia |
ADCY5-Related Dyskinesia |
Adenoid Cystic Carcinoma |
Congenital Afibrinogenemia |
Anaplastic Astrocytoma |
Angioimmunoblastic T-Cell Lymphoma |
Autosomal Dominant Polycystic Kidney Disease |
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome |
CARD9 Deficiency |
Carney Complex |
Arginine Vasopressin Deficiency |
Chordoma |
Classic Hereditary Hemochromatosis |
Cold Agglutinin Disease |
Common Variable Immune Deficiency |
Cutaneous T-Cell Lymphomas |
Drug Reaction with Eosinophilia and Systemic Symptoms |
Enthesitis-Related Juvenile Idiopathic Arthritis |
Erythropoietic Protoporphyria and X-Linked Protoporphyria |
Factor X Deficiency |
Familial Partial Lipodystrophy |
Fibrolamellar Carcinoma |
Follicular Lymphoma |
Frontotemporal Degeneration |
General Myoclonus |
Glioblastoma |
Glioma |
Glucose-6-Phosphate Dehydrogenase Deficiency |
Glucose Transporter Type 1 Deficiency Syndrome |
Glycogen Storage Disease Type 7 |
Gottron Syndrome |
Granuloma Annulare |
Haim-Munk Syndrome |
Hashimoto Encephalopathy |
Hepatic Encephalopathy |
Hepatoerythropoietic Porphyria |
Hepatorenal Syndrome |
Hinman Syndrome |
Horner’s Syndrome |
HTLV Type I and Type II |
Human HOXA1 Syndromes |
Hyper IgM Syndromes |
Hyperferritinemia Cataract Syndrome |
Hyperostosis Frontalis Interna |
Hypokalemia |
Hypoparathyroidism |
Hypothalamic Obesity, Acquired |
Ichthyosis Vulgaris |
Ichthyosis |
Idiopathic Intracranial Hypertension |
Imagawa-Matsumoto Syndrome |
Immune Thrombocytopenia |
47,XYY syndrome (Jacob's syndrome) |
Partial monosomy 11q (Jacobsen syndrome) |
Jackson-Weiss syndrome |
Autosomal recessive spondylocostal dysostosis |
Jaw-winking syndrome (Marcus-Gunn syndrome) |
Sakati Syndrome |
Schimke Immuno-Osseous Dysplasia |
Schindler disease |
Schwartz-Jampel Syndrome |
Segawa Syndrome |
Sepiapterin Reductase Deficiency |
Setleis Syndrome |
Shwachman Diamond Syndrome |
Simpson-Golabi-Behmel Syndrome |
Singleton Merten syndrome |
Smith-Kingsmore Syndrome |
Stiff Person Syndrome |
Sydenham Chorea |
Syphilis, Acquired |
SLC13A5 Citrate Transporter Disorder |
Acquired von Willebrand syndrome |
Becker muscular dystrophy |
Ellis-Van Creveld Syndrome |
WAGR syndrome/11p deletion syndrome |
Xeroderma pigmentosum |
Nijmegen breakage syndrome |
Pierre Robin Sequence |
Acute lymphoblastic leukemia |
Weaver Syndrome |
Meier-Gorlin Syndrome |
Chondrosarcoma |
Centronuclear myopathy |
Holoprosencephaly |
Gastroschisis |
Chromosome 9, Partial Monosomy 9p |
Congenital hypothyroidism |
Autosomal dominant cerebellar ataxia |
Lymphatic Malformations |
Spina Bifida |
Cardiomyopathy, familial dilated |
Schaff-Yang syndrome |
Goldenhar syndrome |