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Report on the Rare Diseases and Conditions
Research Activities of the
National Institutes of Health 1999

Index

a1-antitrypsin (AAT) deficiency
a-thalassemia (Cooley's anemia)
Acute pulmonary hemosiderosis
Adenoassociated vectors (AAVs)
AIDS-associated opportunistic infections
Alopecia areata
Amyotrophic lateral sclerosis (ALS, Lou Gehrig's disease)
Anemia
Cooley's anemia
Fanconi anemia
sickle cell anemia
sideroblastic anemias
Aniridia
Ankylosing spondylitis (AS)
Antiphospholipid syndrome (APS)
Arrhythmogenic right ventricular dysplasias (ARVD)
Ataxia telangiectasia
Auditory neuropathy
Autism
Autoimmune disease
environment-infection-gene interactions in
Graves' disease
Autoimmune diseases
environment-infection-gene interaction in
Hashimoto's thyroiditis
juvenile rheumatoid arthritis
multiple sclerosis
myasthenia gravis
psoriasis
rheumatoid arthritis
sarcoidosis
scleroderma
Sjögren's syndrome
systemic lupus erythematosus (SLE)
systemic lupus erythematosus (SLE), neuropsychiatric
type 1 diabetes mellitus
Autoimmune inner ear disease
Bare lymphocytic syndrome (BLS)
Bartter's syndrome
Beryllium-induced diseases
Bipolar disorder, childhood
Blepharospasm
Blood diseases
Cooley's anemia
Fanconi anemia
graft versus host disease (GVHD)
hemophilia
hereditary hemorrhagic telangiectasia (HHT)
sickle cell anemia
thrombotic thrombocytopenic purpura (TTP)
Bloom's syndrome
Brain tumor
Bronchopulmonary dysplasia (BPD)
Brugada syndrome Cancer
biology and etiology
cervical cancer
cervical cancer, diagnosis
cervical cancer, prognosis
cervical cancer, vaccine
chlorophenol exposure
chordoma
colorectal cancer
cutaneous T-cell lymphoma (CTCL)
endolymphatic sac tumors in VHL
glioma, malignant
growth contro
head and neck cancer
Hodgkin's disease
HTLV-I-associated adult T-cell leukemia
human papillomaviruses (HPVs)
kidney cancer
lung cancer
malignant glioma
melanoma
nasal cancer
nasopharyngeal cancers
neurofibromatosis
neurofibromatosis 2 (NF2)
olfactory neuroblastoma
ovarian cancer
papillary renal carcinoma
papillomaviruses (PVs)
posttransplant lymphoproliferative disease (PTLD)
preclinical drug development
prostate cancer
renal carcinoma
retinoblastoma (RB)
squamous cell papillomas
statistics
vocal tract carcinoma
Von Hippel-Lindau (VHL) disease
Cancers
melanoma
Cardiofacial syndrome (velocardiofacial syndrome)
Cerebellar ataxia syndrome of early onset, hereditary
Cervical cancer
Cervical cancer, diagnosis
Cervical cancer, prognosis
Char syndrome
Chlorophenol exposure
Chordoma
Cleft palate
Cluttering
Cocaine abuse
Cocaine addiction, treatment
Cocaine dependence
Coccidioidomycosis
Cockayne's syndrome (segmental progeria)
Colorectal cancer
Combined pituitary hormone deficiency, familial
Communication disorders
Complement disorders
Congenital heart block (CHB) in neonatal lupus syndromes
Congenital heart disease
Conotruncal anomaly unusual face syndrome (VCFS)
Cooley's anemia
Corneal dystrophies
keratoconus
Cowden's syndrome
Craniofacial anomalies
Creutzfeldt-Jakob disease (CJD)
Crigler-Najjar syndrome type I
Crohn's disease
Cryptosporidiosis
Cutaneous T-cell lymphoma (CTCL)
Cystic fibrosis (CF)
Deafness
auditory neuropathy
endolymphatic sac tumors
keratitis-ichthyosis-deafness syndrome (KID)
large vestibular aqueduct syndrome (LVAS)
long QT syndrome (LQTS)
mitochondrial genes in
perilymphatic fistulas (PLFs)
Stickler syndrome
Usher's syndrome
Von Hippel-Lindau (VHL) disease
Waardenburg syndrome (WS)
Dermatomyositis
Diabetes
cystic fibrosis (CF)
maturity onset diabetes of the young (MODY)
Wolfram's syndrome
DiGeorge syndrome (velocardiofacial syndrome)
DNA triplet repeat-based diseases
Haw River syndrome Down's syndrome
Drug abuse
Drug addiction
Drug dependence
Dysbetalipoproteinemia

Ehlers-Danlos syndrome (EDS)
Ehrlichiosis
Emphysema
Endolymphatic sac tumors in VHL
Epidermolysis bullosa (EB)
Epidermolytic hyperkeratosis
Eye diseases
aniridia
blepharospasm
Leber's hereditary optic neuropathy (LHON)
retinitis pigmentosa (RP)
retinoblastoma (RB)
retinopathy of prematurity (ROP)
Sjögren's syndrome
Stickler syndrome
Usher's syndrome
uveitis
X-linked juvenile retinoschisis NEI 1

Faciogenital dysplasia NICHD 1
Facioscapulohumeral muscular dystrophy (FSHD) NIAMS 1
Familial combined pituitary hormone deficiency NIDDK 1
Familial Hibernian fever NIAMS 1
Familial hypertrophic cardiomyopathy (FHC) NHLBI 1
Familial vocal fold paralysis NIDCD 1
Fanconi anemia NIGMS 1, NHLBI 1, NHLBI 2
Fragile X syndrome NICHD 1, NIGMS 1
Friedreich's ataxia (FRDA) NIEHS 1, NIGMS 1

Giardiasis NIAID 1
Glioma, malignant NCI 1
Glycogen-storage disease type 1 (GSD-1) NICHD 1
Graft versus host disease (GVHD) NHLBI 1, NHLBI 2
Graves' disease NIEHS 1
Greig cephalopolysyndactyly syndrome (GCPS) NHGRI 1

Haemophilus influenzae, nontypeable NIAID 1
Hair diseases NIAMS 1
Hashimoto's thyroiditis NIEHS 1
Haw River syndrome NIEHS 1
Head and neck cancer NCI 1, NIDCR 1
Heart diseases
arrhythmogenic right ventricular dysplasias (ARVD) NHLBI 1
Brugada syndrome NHLBI 1
congenital heart block (CHB) in neonatal lupus syndromes NHLBI 1
congenital heart disease NHLBI 1
dysbetalipoproteinemia NHLBI 1
familial hypertrophic cardiomyopathy (FHC) NHLBI 1
infectious myocarditis NHLBI 1
long QT syndrome (LQTS) NHLBI 1
pediatric cardiovascular disease NHLBI 1, NHLBI 2
Heart/heart-lung transplant NIMH 1
Hemochromatosis NIGMS 1
Hemophilia NHLBI 1, NHLBI 2
Hepatitis D NIAID 1
Hepatitis SEN/V NIAID 1
Hereditary cerebellar ataxia syndrome of early onset NIDCD 1
Hereditary hemorrhagic telangiectasia (HHT) NHLBI 1
Hermansky-Pudlak syndrome NIAMS 1, ORD
Hibernian fever, familial NIAMS 1
Hirschsprung disease (HSCR)
Hodgkin's disease
HTLV-I-associated adult T-cell leukemia
Human genetic cell repository
Human genome project
Human papillomaviruses (HPVs)
Huntington's disease
Hutchinson-Gilford progeria
Hypercalciuric nephrolithiasis
Hyperinsulinism-hyperammonemia
Hypohidrotic ectodermal dysplasia

ICF syndrome
Ichthyosis
Ichthyosis bullosa of Siemens
Idiopathic pulmonary fibrosis (IPF)
Infectious diseases
AIDS-associated opportunistic infections
coccidioidomycosis
cryptosporidiosis
ehrlichiosis
giardiasis
Haemophilus influenzae, nontypeable
hepatitis D
hepatitis SEN/V
Lyme borreliosis (Lyme disease)
measles virus
nontypeable Haemophilus influenzae
pertussis (whooping cough)
plague
relapsing fever
syphilis
tuberculosis
Infectious myocarditis
Inflammatory bowel disease
Crohn's disease

Juvenile rheumatoid arthritis

Kallmann's syndrome
Keratitis-ichthyosis-deafness syndrome (KID)
Keratoconus
Kidney cancer

Large vestibular aqueduct syndrome (LVAS)
Lead exposure
Lead exposure, treatment
Leber's hereditary optic neuropathy (LHON)
Leigh syndrome
Liddle syndrome
Long QT syndrome (LQTS)
Lung cancer
Lung diseases
1-antitrypsin (AAT) deficiency
acute pulmonary hemosiderosis
bronchopulmonary dysplasia (BPD)
cystic fibrosis (CF)
emphysema idiopathic pulmonary fibrosis (IPF)
lung hemorrhage
lymphangioleiomyomatosis (LAM)
persistent pulmonary hypertension of the newborn (PPHN)
primary ciliary dyskinesia (PCD)
primary pulmonary hypertension (PPH)
pulmonary fibrosis
pulmonary alveolar proteinosis (PAP)
sarcoidosis
Lung hemorrhage
Lyme borreliosis (Lyme disease)
Lymphangioleiomyomata (LAM)
Lymphedema

Malaria
Malignant glioma
MASS phenotype
Maturity onset diabetes of the young (MODY)
Measles virus
Melanoma
MELAS
MERRF
Methamphetamine addiction, treatment
Mitochondrial encephalopathies
Leigh syndrome
MELAS
MERRF
Mitochondrial genes, in deafness
MODY
Motor neuro-ophthalmic disorder
Multiple sclerosis Muscular dystrophy, Duchenne's
Muscular dystrophy, facioscapulohumeral
Myasthenia gravis
Myotonic dystrophy
Mysterious Irish malady

Nasal cancer Nasopharyngeal cancers
Neonatal systemic lupus erythematosus
Neonatal withdrawal syndromes
Nephrolithiasis, hypercalciuric
Neural tube defects (NTDs)
Neurofibromatosis 2 (NF2)
Neurological disorders
amyotrophic lateral sclerosis (ALS)
Duchenne's muscular dystrophy (DMD)
facioscapulohumeral muscular dystrophy (FSHD)
hereditary cerebellar ataxia syndrome of early onset
Hirschsprung disease (HSCR)
neural tube defects (NTDs)
Rett's syndrome
Smith-Lemli-Opitz syndrome (SLOS)
spinocerebellar ataxia
Niemann-Pick disease
Niemann-Pick disease type C
Nijmegen breakage syndrome (NBS)
NOMA
Nontypeable Haemophilus influenzae

Obsessive-compulsive disorder
Olfactory dysfunction
Alzheimer's disease
amyotrophic lateral sclerosis (ALS)
Down's syndrome
Huntington's disease
Kallmann's syndrome
multiple sclerosis
olfactory neuroblastoma
Parkinson's disease
schizophrenia
Usher's syndrome
Olfactory neuroblastoma
Opiate abuse
Opiate dependence
Osteogenesis imperfecta
Ovarian cancer

Pachyonychia congenita
Paget's disease of bone
Papillary renal cell carcinoma
Papillomas, upper respiratory tract Papillomaviruses (PVs)
Papillon-Lefèvre syndrome (PLS)
Parkinson's disease
Parvovirus B19 vaccine
Pediatric cardiovascular disease
Perilymphatic fistulas (PLFs)
Persistent pulmonary hypertension of the newborn (PPHN)
Pertussis (whooping cough)
Pfiesteria toxins
Phencyclidine addiction, treatment
Pigmentation disorders
Hermansky-Pudlak syndrome
Waardenburg syndrome (WS)
Plague
Porphyria
hepatoerythropoietic porphyria
porphyria cutanea tarda (PCT)
Posttransplant lymphoproliferative disease (PTLD)
Preaxial polydactyly (PPD)
Primary ciliary dyskinesia (PCD) (Kartagener's syndrome)
Primary immunodeficiency diseases
bare lymphocytic syndrome (BLS)
several combined immunodeficiency disorder (SCID)
X-linked hyper-IgM syndrome (XHIM)
Primary pulmonary hypertension (PPH)
Prions
Progeroid syndromes
Bloom's syndrome
Cockayne's syndrome
Werner's syndrome
Progressive familial intrahepatic cholestasis
Prostate cancer
Pulmonary alveolar proteinosis (PAP)
Pulmonary fibrosis
Pulmonary hemosiderosis, acute

Relapsing fever
Renal carcinoma
Retinitis pigmentosa (RP)
Retinoblastoma (RB)
Retinopathy of prematurity (ROP)
Rett's syndrome
Rheumatoid arthritis

Sarcoidosis
Schizophrenia
Scleroderma
Several combined immunodeficiency disorder (SCID)
Shprintzen syndrome (velocardiofacial syndrome)
Sickle cell anemia
Sideroblastic anemias
Simpson-Golabi-Behmel syndrome
Sjögren's syndrome
Skeletal dysplasias
faciogenital dysplasia
preaxial polydactyly (PPD)
Skin diseases
epidermolysis bullosa (EB)
epidermolytic hyperkeratosis
ichthyosis
ichthyosis bullosa of Siemens
keratitis-ichthyosis-deafness syndrome (KID)
pachyonychia congenita
psoriasis
xeroderma pigmentosum
Smith-Lemli-Opitz syndrome (SLOS)
Spasmodic dysphonia
Speech disorders
cluttering
familial vocal fold paralysis
spasmodic dysphonia
Spinocerebellar ataxia
Squamous cell papillomas
Stickler syndrome
Sudden infant death syndrome (SIDS)
Syndrome of hyperinsulinism-hyperammonemia
Syphilis
Systemic diseases
Systemic lupus erythematosus (SLE)
Systemic lupus erythematosus (SLE), neuropsychiatric
Systemic lupus erythematosus, neonatal

Tangier disease
Thalassemia
Thrombotic thrombocytopenic purpura (TTP)
Tourette's syndrome
Tuberculosis
Type 1 diabetes mellitus

Upper respiratory tract papillomas
Usher's syndrome
Uveitis

Vaccine, cervical cancer
Vaccine, parvovirus B19
Velocardiofacial syndrome (VCFS)
Vocal fold paralysis, familial
Vocal tract carcinoma
Von Hippel-Lindau (VHL) disease
endolymphatic sac tumors in

Waardenburg syndrome (WS)
Waldenstrom's macroglobulinemia
Werner's syndrome
Williams syndrome (WMS)
Wolfram's syndrome

X-linked hyper-IgM syndrome (XHIM)
X-linked juvenile retinoschisis
Xeroderma pigmentosum


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Last Reviewed: May 15, 2003
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