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Report on the Rare Diseases and Conditions Research Activities of the National Institutes of Health 1998

Report Index

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

Abetalipoproteinemia 1
Achondroplasia 1
Acute Lung Injury 1
Acute lymphocytic leukemia 1
Acute myelocytic leukemia 1
Adenocarcinoma 1
Adrenoleukodystrophy, X-linked 1
Adult Soft-Tissue Sarcomas 1
Agammaglobulinemia 1, 2
AIDS-Related Kaposi's Sarcoma 1
Alagille syndrome 1
Alopecia Areata 1, 2
Alpha-1-antitrypsin (AAT) deficiency 1, 2
Alstrom syndrome 1
Alzheimer's disease 1, 2, 3, 4, 5, 6
Amyotrophic lateral sclerosis 1, 2, 3, 4
Anemia 1, 2
Ankylosing Spondylitis 1
Anorexia Nervosa 1
Antiphospholipid syndrome 1
Aortic and cerebral aneurysms 1
Aplastic anemia 1
Arterial thrombosis 1
Arthritis 1
Asbestosis 1, 2
Aspergillosis 1
Aspergillus fumigatus 1
Ataxia-Telangiectasia 1, 2, 3, 4, 5
Atherosclerosis 1, 2
Atherosclerotic plaque 1
Auditory Neuropathy 1
Autism 1, 2, 3
Autoimmune diseases 1, 2, 3, 4, 5
Autoimmune inner ear disease 1
Autoimmune kidney disease 1
Autoimmune Lymphoproliferative Syndrome (ALPS) 1
Autoimmune thrombocytopenia 1
Autoimmune thyroid disease 1
Autosomal recessive disorder 1

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B

B cell non-Hodgkin's lymphoma 1
Batten disease 1
Beryllium-Induced diseases 1
Beta-thalassemia 1, 2
Bipolar disorder 1
Blackfan-Diamond anemia 1
Blastomyces dermatitis 1
Blastomycosis 1
Blepharospasm 1
Bloom syndrome 1
Bone 1
Bone marrow hypoplasia 1
Borreliosis 1
Bovine 1
Brain 1, 2, 3
Bronchopulmonary dysplasia 1, 2, 3, 4
Bullous pemphigoid 1

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C

Cachectic dwarfism 1
Carbohydrate Deficient Glycoprotein syndrome 1, 2
Carcinoma of the Vocal Tract 1
Cardiovascular disease 1, 2
Cardiovascular Lupus 1
Carditis 1
Carney syndrome 1
Cataract 1
Celiac disease 1
Cerebral cavernous malformations 1
Ceroid myopathy 1
Chancroid 1
Charcot-Marie-Tooth syndrome 1
Childhood-onset Schizophrenia 1
Chronic Granulomatous diseases 1
Chronic Lyme Neuroborreliosis 1
Chronic myelocytic leukemia 1
Circatricial pemphigoid 1
Cleft Lip and Palate 1, 2
Cleft palate 1
Clefting disorders 1
Cluttering 1
Coccidioides immitis 1
Coccidioidomycosis 1, 2
Cockayne syndrome 1
Colorectal cancer 1
Common Variable Immunodeficiency 1
Congenital adrenal hyperplasia 1
Congenital cardiovascular malformations 1
Congenital heart disease 1, 2, 3
Cooley's Anemia 1, 2, 3, 4, 5
Coprolalia 1
Cortical dysplasias 1
Cowden's syndrome 1, 2
Craniofacial 1, 2, 3, 4
Craniosynostosis syndromes 1
Creutzfeldt-Jakob disease 1, 2, 3, 4
Crigler-Najjar syndrome 1
Cryptococcosis 1, 2
Cryptococcus neoformans 1
Cryptosporidiosis 1, 2
Cushing's syndrome 1
Cystic Fibrosis 1, 2, 3, 4, 5, 6, 7
Cystic kidney disease 1
Cystinosis 1
Cytomegalovirus 1

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D

Dentatorubral pallidoluysian atrophy 1, 2
Di George syndrome 1, 2
Diabetes insipidus 1
Diabetes mellitus type 1 1, 2
Diabetes mellitus type 2 1
Diarrhea 1
Diffuse interstitial fibrosis 1
Down syndrome 1, 2, 3, 4
Duane's syndrome 1
Dysbetalipoproteinemia 1
Dyslipoproteinemia 1

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E

Eating Disorders 1
Echolalia 1
Ehlers-Danlos syndrome 1, 2
Ehrlichiosis 1
Ellis van Creveld syndrome 1
Emery-Dreyfuss muscular dystrophy 1
Emphysema 1
Endolymphatic sac tumors 1
Epidermolysis Bullosa 1, 2
Epilepsy 1, 2
Epstein Barr virus 1
Erythropoiesis 1
Esophageal squamous cell carcinoma 1
Esophagus 1

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F

Facial dysmorphism 1
Facioscapulohumeral disease 1
Familial Adenomatous Polyposis 1, 2
Familial Combined Pituitary Hormone Deficiency 1
Familial eosinophilia 1
Familial hypercholesterolemia 1
Familial hypertrophic cardiomyopathy 1
Familial Mediterranean Fever (FMF) 1
Familial polyposis 1
Familial Vocal Fold Paralysis 1
Familial-onset Schizophrenia 1, 2
Familiar Hyperinsulinemia 1
Fanconi anemia 1, 2
Fibromyalgia 1
Fibrosis 1
Fibrotic Lung disease 1
Fish Malodor syndrome 1, 2
Fragile X syndrome 1
Fragile X-linked mental retardation 1
Friedreich's ataxia 1, 2

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G

Gastric cardia adenocarcinoma 1
Genital ulcer disease 1
Glioma, neurofibromatosis 1
Gorlin syndrome 1
Graft-versus-host disease 1
Graves' disease 1
Greig syndrome 1

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H

Hantavirus pulmonary syndrome 1
Hashimoto's thyroiditis 1
Hb S-Beta thalassemia 1
Hb SC 1
Head and Neck Cancer 1
Hematopoietic tumors 1
Hemochromatosis 1, 2
Hemolysis 1
Hemophilia 1, 2, 3, 4
Hemophilia B 1
Hepatic fibrosis 1
Hepatitis A and C 1, 2
Hepatitis E 1
Hepato-erythropoietic porphyria 1
Hereditary Cerebellar Ataxia syndrome of Early Onset 1
Hereditary dystonia 1
Hereditary hemorrhagic telangiectasia 1, 2
Hereditary neuralgic amyotrophy 1
Hereditary Papillary Renal Carcinoma 1
Hereditary Renal Carcinoma 1
Hermansky-Pudlak Syndrome 1
Herpes 1
Herpes gestationis 1
Herpetic Eye disease 1
Hirschsprung disease 1
Histoplasma capsulatum 1
Histoplasmosis 1, 2
Hodgkin's disease 1
Holoprosencephaly 1
Host Defense Disorders 1
Human Skeletal Dysplasias 1
Huntington's disease 1, 2, 3, 4, 5, 6, 7
Hutchinson-Gilford progeria 1
Hydronephrosis 1
Hydroureter 1
Hyperbilirubinemia 1
Hypercalciuric Nephrolithiasis 1
Hypoalphalipoproteinemia 1
Hypogammaglobulinemia 1
Hypoglycemia 1
Hypoxemia 1

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I

Ichthyosis 1
Idiopathic Hypogonadotropic Hypogonadism 1
Idiopathic pulmonary fibrosis 1, 2
Idiopathic thrombocytopenic purpura 1
IgA Deficiency 1
Immune-mediated injury 1
Infectious myocarditis 1, 2
Inflammatory bowel disease 1
Irritable Bowel syndrome 1
Ischemic heart disease 1

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J

Joubert syndrome 1
Juvenile Dermatomyositis 1
Juvenile Rheumatoid Arthritis 1

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K

Kallmann syndrome 1, 2, 3
Kaposi's sarcoma 1, 2
Kaposi's sarcoma herpes virus 1
Kawasaki syndrome 1
Kennedy's disease 1
Keratoplasties 1
KID (keratitis-ichthyosis-deafness) syndrome 1
Kidney and other urinary tract 1
Killer Cell 1
Krabbe disease 1
Kuru 1

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L

Large Vestibular Aqueduct syndrome 1
Larynx 1
Leber's Hereditary Optic Neuropathy 1
Lecithin cholesterol acyltransferase (LCAT) deficiency 1
Leiomyosarcomas 1
Leukemia 1, 2, 3, 4, 5
Li-Fraumeni syndrome 1
Lipid disorders 1
Liver 1
Long QT syndrome 1, 2
Lou Gehrig's disease 1
Lowe oculocerebrorenal syndrome 1
Lung Hemorrhage 1
Lung, non-small-cell 1
Lupus and rheumatoid arthritis 1
Lupus Erythematosus 1, 2
Lyme borreloisis 1
Lyme disease 1, 2
Lymphangioleiomyomatosis 1, 2
Lymphohematopoietic Malignancies 1
Lymphoma 1
Lymphoproliferative syndrome, X-linked 1

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M

Mad cow disease 1, 2
Malignant Hyperthermia 1
Marfan syndrome 1
McCune Albright syndrome 1
Measles 1
Measles viral encephalitis 1
Mediterranean anemia 1
Medulloblastoma 1
Melanoma 1, 2
Mental retardation 1
Microsporidiosis 1
Migration disorders 1
Miller-Dieker syndrome 1
Mineral metabolism 1
Motor Neural-Ophthalmic disorders 1
Multiple Congenital Anomaly syndrome 1
Multiple Endocrine Neoplasia Type 1 1
Multiple endocrine tumor syndrome 1
Multiple myeloma 1
Multiple sclerosis 1, 2
Munchausen syndrome 1
Muscular disorders 1
Muscular dystrophy 1, 2, 3
Myasthenia gravis 1
Mycoses 1
Myelodysplastic syndrome 1
Myocardial disease 1
Myocarditis 1
Myopathy 1
Myoshi myopathy 1
Myositis 1
Myotonic dystrophy 1

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N

Narcolepsy 1
Necrotizing gingivitis 1
Neonatal Lupus 1
Nephrocalcinosis 1
Nesidioblastosis 1
Neuroblastoma 1, 2, 3
Neuroborreliosis 1
Neurofibromatosis 1 and 2 1
Neurosensory disease 1
Niemann-Pick Type C (NPC) 1
Nijmegen breakage syndrome 1, 2, 3
Non-cardia gastric adenocarcinoma 1
Non-Hodgkin's lymphoma 1

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O

Obesity 1
Obsessive-compulsive disorder 1, 2
Oculocutaneous albinism 1
Olivopontocerebellar atrophy 1
Opiate 1
Optic atrophy 1
Oral Cancer 1, 2
Orofacial gangrene 1
Osteoarthritis 1
Osteogenesis Imperfecta 1, 2
Osteopenia 1
Osteoporosis 1
Osteosarcoma 1
Ovary 1

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P

Paget's disease 1
Pallister-Hall syndrome 1
Pancreas 1
Papillomas 1
Paramyxoviral infection 1
Parkinson's disease 1, 2, 3, 4, 5
Paroxysmal dystonic choreoathetosis 1
Paroxysmal nocturnal hemoglobinuria 1
Pediatric rheumatology 1
Pediatric scleroderma 1
Perilymphatic Fistula 1
Peripheral neuropathy 1
Peripheral vascular disease 1
Persistent pulmonary hypertension 1
Persistent pulmonary hypertension of the newborn 1
Pfiesteria Toxins 1
Phagocyte disorders 1
Pharyngeal cancers 1
Phenylketouria 1
Photophobia 1
Pneumocystis pneumonia 1, 2
Pneumonitis 1
Polycystic ovary syndrome 1
Porphyria cutanea tarda 1
Primary bile acid malabsorption 1
Primary immunodeficiency diseases 1, 2
Primary pigmented nodular adrenal disease 1
Primary pulmonary hypertension 1, 2
Prion diseases 1, 2
Progressive Familial Intrahepatic Cholestasis 1
Prostate 1
Proteus syndrome 1
Pseudohypoparathyroidism 1
Pulmonary alveolar proteinosis 1
Pulmonary fibrosis 1, 2
Pulmonary granulomatosis 1

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R

Rasmussen syndrome 1
Rectum 1
Retinitis 1
Retinitis Pigmentosa 1, 2
Retinoblastoma 1, 2
Retinopathy 1
Retinopathy of prematurity 1
Rett syndrome 1, 2
Rheumatic and Autoimmune diseases 1
Rheumatic conditions 1
Rheumatoid arthritis 1, 2, 3, 4

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S

Saethr-Chotzen syndrome 1
Sarcoidosis 1, 2
Schizophrenia 1, 2, 3
Scleroderma 1, 2, 3, 4, 5
Segmental progeria 1
Severe Combined Immunodeficiency (SCID) 1, 2
Sickle cell disease 1, 2, 3, 4, 5, 6
Sideroblastic anemia 1
Simpson-Golabi-Behmel syndrome 1
Sjörgren's syndrome 1, 2, 3, 4
Sleep Apnea 1
Smith-Lemli-Opitz (SLO) syndrome 1
Smith-Magenis syndrome 1
Spasmodic Dysphonia 1
Spinal muscular atrophy 1
Spinocerebellar ataxias 1, 2, 3
Spirochetes 1
Spongiform diseases 1
Spongiform encephalopathy 1
Squamous Cell Papilloma 1
Steatorrhea 1
Stickler syndrome 1
Stomach 1
Sturge-Weber syndrome 1
Suicide 1
Sulfite Oxidase deficiency 1
Syncope 1
Syndrome of Hyperinsulinism-Hyperammonemia 1
Syphilis 1
Systemic Lupus Erythematosus 1, 2, 3, 4, 5, 6, 7

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T

Tangier disease 1
Tay-Sachs disease 1
Testis 1
Thalassemia 1
Thalassemia major 1
Thrombocytopenia 1, 2
Thromboses 1
Thrombotic thrombocytopenic purpura 1
Thyroid and parathyroid 1
Tourette syndrome 1, 2, 3
Toxoplasmosis 1
Transmissible Spongiform Encephalopathies 1
Trichothiodystrophy 1
Trimethylaminuria 1, 2
Tuberours Sclerosis 1 and 2 1
Turner syndrome 1
Tyrosinemia 1

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U

Usher syndrome 1, 2
Uveitis 1

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V

Velocardiofacial syndrome 1
Ventricular arrhythmias 1
Von Hippel-Lindau syndrome 1, 2
Vulvodynia 1

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W

Waardenburg syndrome 1
Wegener's granulomatosis 1
Werner syndrome 1
William syndrome 1
Wilm's Tumor 1
Wolfram syndrome 1

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X

Xanthomas 1
Xeroderma pigmentosum 1
Xerostomia 1

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Last Reviewed: Janauary 26, 2005
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