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Report on the Rare Diseases and Conditions Research Activities of the National Institutes of Health FY 2000

Index

abetalipoproteinemia
achondroplasia
acquired long QT syndrome (LQTS)
acromegaly
acute myelogenous leukemia (AML)
acute pulmonary hemosiderosis
acute respiratory distress syndrome
acute rheumatic fever (ARF)
adductor spasmodic dysphonia
adenomatous polyposis of the colon
adrenoleukodystrophy
advance sleep phase syndrome (ASPS)
alagille syndrome (AGS)
alcoholic hepatitis
alcoholic liver disease (ALD)
allergic diseases
alpha thalassemia mental retardation X-linked (ATRX) syndrome
alpha-1-antitrypsin (AAT) deficiency
Alstrom syndrome
Alzheimer's disease
amelogenesis imperfecta
Amish nemaline myopathy
amyotrophic lateral sclerosis (ALS)

anemia beta-thalassemia
Cooley's anemia
Fanconi anemia (FA)
Mediterranean anemia
sickle cell anemia (SCA)
anodontia
anorexia nervosa (AN)
antiphospholipid syndrome (APS)
aplastic anemia (AA)
arrhythmogenic right ventricular dysplasia (ARVD)
arthritis
asbestosis
ataxia telangiectasia (AT)
atransferrinemia
attention deficit hyperactivity disorder (ADHD)
auditory neuropathy
autoimmune diseases
autoimmune lymphoproliferative syndrome (ALPS)
autoimmune polyglandular syndrome type 1
autosomal dominant retinitis pigmentosa (ADRP)
Avellino corneal dystrophy
B cell immunodeficiencies
Bardet-Biedl syndrome
Barrett™s esophagus
Bartter syndrome
Batten disease
behavioral and learning disorders
advance sleep phase syndrome (ASPS)
alpha thalassemia mental retardation X-linked (ATRX) syndrome
anorexia nervosa (AN)
attention deficit hyperactivity disorder (ADHD)
bulimia nervosa (BN)
cluttering
completed suicide
fragile X-linked mental retardation
large vestibular aqueduct syndrome (LVAS)
schizophrenia
Smith-Lemli-Opitz (SLO) syndrome
X-linked mental retardation Behcet's disease
beta-sitosterolemia
beta-thalassemia
biliary atresia (BA)
bladder cancer
blastomycosis
blepharophimosis epicanthus inversus ptosis syndrome (BPES)
blepharospasm blood disorders
acute myelogenous leukemia (AML)
antiphospholipid syndrome (APS)
aplastic anemia (AA)
atransferrinemia
autoimmune lymphoproliferative syndrome (ALPS)
B cell immunodeficiencies
beta-thalassemia
chronic lymphocytic leukemia (CLL)
Cooley's anemia
factor V Leiden
factor X deficiency
familial hemophagocytic lymphohistiocytosis (FHL)
familial hypereosinophilic syndrome
Fanconi syndrome
hemochromatosis
hemolytic uremic syndrome (HUS)
hemophilia
hereditary hemochromatosis
hereditary hemorrhagic telangiectasia (HHT)
hereditary hyperferritinemia cataract syndrome (HHCS)
immune thrombocytopenic purpura (ITP)
leukemia
mantle cell lymphoma
multiple myeloma (MM)
myelodysplasia
myelodysplastic syndrome (MDS)
paroxysmal nocturnal hemoglobinuria (PNH)
sickle cell anemia (SCA)
sickle cell disease (SCD)
tac-expressing adult T-cell leukemia
thalassemia
thalassemia major
thrombocytopenia
thrombotic thrombocytopenic purpura (TTP)
Waldenstrom™s macroglobulinemia (WM)
Bloom syndrome (BS)
breast cancer
bronchopulmonary dysplasia (BPD)
bulimia nervosa (BN) camptodactyly-arthropay-coxa vara-pericarditis (CACP) syndrome Canavan disease
cancer
cancer, bladder
cancer, breast
cancer, lung
cancer, non-small cell lung
cancer, oral
cancers of the head and neck
carcinoma, renal cell (RCC)
cardiofacial syndrome
cardiovascular disorders
acquired long QT syndrome (LQTS)
antiphospholipid syndrome (APS)
arrhythmogenic right ventricular dysplasia (ARVD)
Behcet's disease congenital heart disease
familial hypertrophic cardiomyopathy (FHC)
hypertension
infectious myocarditis
Jervell-Lange-Nielson syndrome
left-right (L-R) axis malformations
long QT syndrome (LQTS)
pericarditis
Romano-Ward syndrome
supravalvular aortic stenosis (SVAS)
Carney complex (CNC)
cartilage hair hypoplasia (CHH)
cataract and craniofacial anomalies syndrome
ceroid lipofuscinosis
Chagas™ disease
Chediak-Higashi syndrome
choroidal melanoma
chronic granulomatous disease (CGD)
chronic lymphocytic leukemia (CLL)
Churg-Strauss syndrome
cleft lip/palate syndrome
cluttering
Cockayne syndrome (CS)
completed suicide
congenital cytomegalovirus (CMV)
congenital diaphragmatic hernia (CDH)
congenital disorders of glycosylation (CDGs)
congenital heart disease
connective tissue and musculoskeletal disorders
Amish nemaline myopathy
arthritis
camptodactyly-arthropay-coxa vara-pericarditis (CACP) syndrome
cartilage hair hypoplasia (CHH)
congenital diaphragmatic hernia (CDH)
degenerative spondylolisthesis
dermatomyositis
Duchenne muscular dystrophy (DMD)
ectodermal dysplasia (anhidrotic) (EDA)
ectodermal dysplasias
Ehlers-Danlos syndrome (EDS)
facioscapulohumeral muscular dystrophy (FSHD)
fibromyalgia
heritable connective tissue disorders
human skeletal dysplasias
hypochondroplasia
idiopathic scoliosis (IS)
idiopathic torsion dystonia
immuno-osseous dysplasia
inflammatory muscle disease
inflammatory myopathy
juvenile rheumatoid arthritis (JRA)
keloids
muscular dystrophy
myositis
myotonic dystrophy
osteoarthritis
osteogenesis imperfecta (OI)
osteomyelitis
osteopetrosis
osteoporosis
pseudoxanthoma elasticum (PXE)
rheumatoid arthritis (RA)
septic arthritis
temporomandibular disorder (TMD)
thanatophoric dysplasia (TD)
conotruncal anomaly unusual face syndrome
Cooley's anemia
Cowden syndrome
craniofacial anomalies
craniosynostosis
Creutzfeldt-Jakob disease (CJD)
cryptococcal meningitis
Cushing's syndrome
cyclic vomiting syndrome
cystic fibrosis (CF)
cystinosis
degenerative spondylolisthesis
amelogenesis imperfecta
anodontia
dentinogenesis imperfecta
early-onset periodontitis
gingival fibromatosis
hypodontia
oligodontia
dentatorubral-pallidoluysian atrophy
dentinogenesis imperfecta
dermatomyositis
diabetes mellitus
Diamond-Blackfan anemia
DiGeorge syndrome
DNA triplet-repeat-based diseases
Down syndrome
Drosophila tuberous sclerosis complex
Duchenne muscular dystrophy (DMD)
dysbetalipoproteinemia
dysmorphism
ectodermal dysplasia (anhidrotic) (EDA)
Ehlers-Danlos syndrome (EDS)
endocrine and metabolic disorders
abetalipoproteinemia
acromegaly
Bardet-Biedl syndrome
congenital disorders of glycosylation (CDGs)
diabetes mellitus
dysbetalipoproteinemia
familial homozygous hypercholesterolemia (FHH)
familial hypobetalipoproteinemia (FHBL)
familial isosexual precocious puberty
familial partial lipodystrophy (FPLD), Dunnigan variety
Gaucher disease
gestational diabetes
gestational diabetes mellitus (GDM)
glucocorticoid remediable aldosteronism (GRA)
glutaric acidemia
glycogen storage disease
homozygous sitosterolemia
hyperaldosteronism
hypergonadotropic hypogonadism
hyperhomocysteinemia
hyperoxaluria
hypokalemia
infantile Refsum syndrome
lipodystrophy
lipofuscinoses
lysosomal storage disorders (LSDs)
maturity-onset diabetes of the young (MODY)
Menkes disease
mucolipidosis type IV
Niemann-Pick type C (NP-C) disease
obesity
oxalosis
persistent hyperinsulinemic hypoglycemia of infancy (PHHI)
polycystic ovarian syndrome (PCOS)
primary pigmented nodular adrenocortical disease (PPNAD)
Refsum's disease
sarcoidosis
SGD syndrome
type II diabetes mellitus
end-stage renal disease (ESRD)
eochromocytoma
epiglottitis
Ewing's sarcoma
eye disorders
autosomal dominant retinitis pigmentosa (ADRP)
Avellino corneal dystrophy
blepharophimosis epicanthus inversus ptosis syndrome (BPES)
blepharospasm
granular corneal dystrophy
hereditary hyperferritinemia cataract syndrome (HHCS)
keratoconus
lattice type 1 corneal dystrophy
Leber™s congenital amaurosis (LCA)
Leber™s hereditary optic neuropathy (LHON)
Lenz syndrome
macular dystrophy
microphthalmia
myopia
pigment dispersion syndrome
Reis Bucklers™ corneal dystrophy
retinitis pigmentosa
Fabry's disease
facial dysmorphogenesis
facioscapulohumeral muscular dystrophy (FSHD)
factor V Leiden
factor X deficiency
familial dementia with neuroserpin inclusion bodies (FDNIB)
familial fever syndromes
familial hemophagocytic lymphohistiocytosis (FHL)
familial homozygous hypercholesterolemia (FHH)
familial hypereosinophilic syndrome
familial hypertrophic cardiomyopathy (FHC)
familial hypobetalipoproteinemia (FHBL)
familial isosexual precocious puberty
familial Mediterranean fever (FMF)
familial partial lipodystrophy (FPLD), Dunnigan variety
familial PPH (FPPH)
Fanconi anemia (FA)
Fanconi syndrome
fascioscapulohumeral dystrophy
fatal familial insomnia
female disorders
gestational diabetes
gestational diabetes mellitus (GDM)
polycystic ovarian syndrome (PCOS)
premature ovarian failure (POF)
vulvodynia
fetal alcohol syndrome (FAS)
fibroblast growth factor receptor 3 (FGFR3) disorders
fibromyalgia
focal segmental glomerulosclerosis (FSGS)
fragile X-linked mental retardation
Friedreich's ataxia (FRDA)
GAS invasive disease
gastrointestinal disorders
adenomatous polyposis of the colon
alcoholic hepatitis
alcoholic liver disease (ALD)
Barrett™s esophagus
biliary atresia (BA)
cyclic vomiting syndrome
Hirschsprung disease
irritable bowel syndrome (IBS)
necrotizing enterocholitis (NEC)
Peutz-Jeghers syndrome
Shwachmann-Diamond syndrome
Zollinger-Ellison syndrome
Gaucher disease
genetic conditions
achondroplasia
adrenoleukodystrophy
alagille syndrome (AGS)
alpha thalassemia mental retardation X-linked (ATRX) syndrome
Alstrom syndrome
autosomal dominant retinitis pigmentosa (ADRP)
beta-sitosterolemia
Bloom syndrome (BS)
cardiofacial syndrome
Carney complex (CNC)
cartilage hair hypoplasia (CHH)
Chediak-Higashi syndrome
cleft lip/palate syndrome
Cockayne syndrome (CS)
conotruncal anomaly unusual face syndrome
DiGeorge syndrome
DNA triplet-repeatbased diseases
Down syndrome
Drosophila tuberous sclerosis complex
dwarfism
dysmorphism
ectodermal dysplasia (anhidrotic) (EDA)
facial dysmorphogenesis
familial fever syndromes
familial Mediterranean fever (FMF)
fatal familial insomnia
fibroblast growth factor receptor 3 (FGFR3) disorders
fragile X-linked mental retardation
genetic immunodeficiencies
genome instability disease
Greig cephalopolysyndactyly syndrome (GCPS)
Haw River syndrome
hereditary ataxias
heritable connective tissue disorders
immobile ciliary syndrome
incontinentia pigmenti (IP)
Klinefelter syndrome
Lafora disease
Leber™s hereditary optic neuropathy (LHON)
Liddle syndrome
Lowe syndrome
Marfan syndrome
Menkes disease
Nijmegen breakage syndrome (NBS)
oral clefts
oral-facial-digital syndromes
orofacial clefting syndromes
Papillon-Lefevre syndrome (PLS)
peroxisomal disorders
Peutz-Jeghers syndrome
polydactyly
Rieger syndrome
severe achondroplasia with developmental delay and acanthosis nigricans
(SADDAN)
SGD syndrome
Shprintzen syndrome
Simpson-Golabi-Behmel syndrome
single gene defect diseases
Smith-Lemli-Opitz (SLO) syndrome
Smith-Magenis syndrome (SMS)
Tangier disease
Tay-Sachs disease
transfusion dependent 5q minus syndrome
trichothiodystrophy (TTD)
trinucleotide repeat diseases
trisomy 2p syndrome
Turner's syndrome
Usher syndrome
van der Woude syndrome
velo-cardio-facial syndrome/Di George syndrome (VCFS/DGS)
Waardenburg syndrome (WS)
Werner syndrome
Williams syndrome (WMS)
Wiskott-Aldrich syndrome (WAS)
xeroderma pigmentosum (XP)
X-linked disorder
X-linked hyper-IgM syndrome (XHIM)
Zellweger syndrome
genetic immunodeficiencies
genome instability disease
gestational diabetes
gestational diabetes mellitus (GDM)
gingival fibromatosis
glioblastoma
glioblastoma multiforme
glomerulonephritis
glucocorticoid remediable aldosteronism (GRA)
glutaric acidemia
glycogen storage disease
graft-versus-host disease (GvHD)
granular corneal dystrophy
Greig cephalopolysyndactyly syndrome (GCPS)
hamartomas
hantavirus pulmonary syndrome (HPS)
Haw River syndrome
Helminth infections
hemochromatosis
hemolytic uremic syndrome (HUS)
hemophilia
hepatitis C
hereditary ataxias
hereditary cerebellar ataxia syndrome
hereditary hemochromatosis
hereditary hemorrhagic telangiectasia (HHT)
hereditary hyperferritinemia cataract syndrome (HHCS)
heritable connective tissue disorders
Hermansky-Pudlak syndrome
herpesvirus-associated neonatal herpes simplex virus (HSV)
Hirschsprung disease
HIV/AIDS, pediatric
holoprosencephaly (HPE)
homozygous sitosterolemia
human skeletal dysplasias
Huntington's disease (HD)
Hutchinson-Gilford progeria syndrome
hyper IgE syndrome
hyperaldosteronism
hypergonadotropic hypogonadism
hyperhomocysteinemia
hyperimmunoglobulin E recurrent infection syndrome (HIE)
hyperoxaluria
hyperparathyroidism-jaw tumor (HPT-JT) syndrome
hypertension
hypochondroplasia
hypodontia
hypohidrotic ectodermal dysplasia
hypokalemia
iatrogenic disorders doxorubicin (DXN) cardiomyopathy
fetal alcohol syndrome (FAS)
graft-versus-host disease (GvHD)
progestin-induced dysphoria
idiopathic membranous glomerulopathy
idiopathic pulmonary fibrosis (IPF)
idiopathic scoliosis (IS)
idiopathic torsion dystonia
IgA nephropathy
immobile ciliary syndrome
immune thrombocytopenic purpura (ITP)
immunological disorders
allergic diseases
autoimmune diseases
autoimmune lymphoproliferative syndrome (ALPS)
autoimmune polyglandular syndrome type 1
chronic granulomatous disease (CGD)
HIV/AIDS, pediatric
hyper IgE syndrome
hyperimmunoglobulin E recurrent infection syndrome (HIE)
Job syndrome
juvenile rheumatoid arthritis (JRA)
multiple sclerosis (MS)
neonatal lupus
primary immunodeficiencies
scleroderma
severe combined immunodeficiency (SCID)
Sjögren's syndrome
systemic lupus erythematosus (SLE)
vitiligo
von Hippel-Lindau disease (VHL)
Wiskott-Aldrich syndrome (WAS)
immuno-osseous dysplasia
incontinentia pigmenti (IP)
infantile neuronal ceroid lipofuscinoses
infantile Refsum syndrome
infections
acute rheumatic fever (ARF)
blastomycosis
Chagas™ disease
congenital cytomegalovirus (CMV)
cryptococcal meningitis
cysticercosis
cytomegalovirus
epiglottitis
GAS invasive disease
hantavirus pulmonary syndrome (HPS)
Helminth infections
hepatitis C
herpesvirus-associated neonatal herpes simplex virus (HSV)
HIV/AIDS, pediatric
infectious diseases
infectious myocarditis
Lyme disease
malaria
meningitis
necrotizing fasciitis (flesh-eating bacteria)
neonatal HSV
noma
papillomavirus
pediatric HIV/AIDS
pertussis
prion diseases
sepsis
septic arthritis
streptococcal toxic shock syndrome
whooping cough
infectious diseases
infectious myocarditis
inflammatory muscle disease
inflammatory myopathy
irritable bowel syndrome (IBS)
Jervell-Lange-Nielson syndrome
Job syndrome
juvenile neuronal ceroid lipo juvenile rheumatoid arthritis (JRA)
Kallmann syndrome
Kaposi™s sarcoma (KS)
Kaposi™s sarcoma herpes virus (KSHV)
Kartegener™s syndrome
keloids
keratoconus
kidney and urinary tract disorders end-stage renal disease (ESRD)
focal segmental glomerulosclerosis (FSGS)
glomerulonephritis
hemolytic uremic syndrome (HUS)
idiopathic membranous glomerulopathy
IgA nephropathy
Liddle syndrome
membranous lupus nephropathy
oxalate stone disease
polycystic kidney disease (PKD)
renal cell carcinoma (RCC)
renal disease, end-stage
Klinefelter syndrome
kuru
Lafora disease
large vestibular aqueduct syndrome (LVAS)
lattice type 1 corneal dystrophy
Leber™s congenital amaurosis (LCA)
Leber™s hereditary optic neuropathy (LHON)
left-right (L-R) axis malformations
Lenz syndrome
leukemia
Liddle syndrome
lipodystrophy
lipofuscinoses
long QT syndrome (LQTS)
Lowe syndrome
lung cancer
Lyme disease
lymphangioleiomyomatosis (LAM)
lymphedema
lymphomatoid granulomatosis
lysosomal storage disorders (LSDs)
macular dystrophy
malaria
mantle cell lymphoma
Marfan syndrome
maturity-onset diabetes of the young (MODY)
McCune-Albright syndrome
McKusick-Kaufman syndrome
Mediterranean anemia
medulloblastoma
membranous lupus nephropathy
meningitis
Menkes disease
metastatic androgen independent prostate cancer
microphthalmia
mucolipidosis type IV
multiple myeloma (MM)
multiple sclerosis (MS)
muscular dystrophy
myelodysplasia
myelodysplastic syndrome (MDS)
myopia
myositis
myotonic dystrophy
necrotizing enterocholitis (NEC)
necrotizing fasciitis (flesh-eating bacteria)
nemaline myopathy
neonatal HSV
neonatal lupus
nervous system disorders
adrenoleukodystrophy
Alzheimer's disease
amyotrophic lateral sclerosis (ALS)
ataxia telangiectasia (AT)
auditory neuropathy
Batten disease
Canavan disease
craniosynostosis
Creutzfeldt-Jakob disease (CJD)
cryptococcal meningitis
degenerative spondylolisthesis
dentatorubral-pallidoluysian atrophy
Drosophila tuberous sclerosis complex
familial dementia with neuroserpin inclusion bodies (FDNIB)
fatal familial insomnia
fetal alcohol syndrome (FAS)
Friedreich's ataxia (FRDA)
glioblastoma
glioblastoma multiforme
Haw River syndrome
hereditary cerebellar ataxia syndrome
Huntington's disease (HD)
Hutchinson-Gilford progeria syndrome
infantile neuronal ceroid lipofuscinoses
juvenile neuronal ceroid lipofuscinoses
Kallmann syndrome
kuru
Lafora disease
Leber™s hereditary optic neuropathy (LHON)
meningitis
Menkes disease
multiple sclerosis (MS)
nemaline myopathy
neuroacanthocytosis
neurofibromas
neurofibromatosis
neurofibromatosis type 1 (NF1)
neurofibromatosis type 2 (NF2)
neuronal ceroid lipofuscinosis (NCL type III)
Parkinson™s disease
plexiform neurofibromatosis type 1
polymorphic amyloid degeneration
primary spinal syringomyelia
prion diseases
Rett syndrome
spasmodic dysphonia
spastic cerebral palsy
spinal muscular atrophy
spinocerebellar ataxia-1 (SCA1)
Tay-Sachs disease
Tourette syndrome
type 1 hereditary sensory neuropathy
neuroacanthocytosis
neurofibromas
neurofibromatosis
neurofibromatosis type 1 (NF1)
neurofibromatosis type 2 (NF2)
neuronal ceroid lipofuscinosis (NCL type III)
Niemann-Pick type C (NP-C) disease
Nijmegen breakage syndrome (NBS) 83, 90 noma
non-small cell lung cancer
nutritional disorders anorexia nervosa (AN)
bulimia nervosa (BN)
obesity
obesity
ocular melanoma
oligodontia
oncology
bladder cancer
breast cancer
cancer
cancer, bladder
cancer, breast
cancer, lung
cancer, non-small cell lung
cancer, oral
cancers of the head and neck
carcinoma, renal cell (RCC)
choroidal melanoma
chronic lymphocytic leukemia (CLL)
Cowden syndrome
Ewing's sarcoma
glioblastoma
glioblastoma multiforme
hamartomas
hyperparathyroidism-jaw tumor (HPT-JT) syndrome
Kaposi™s sarcoma (KS)
Kaposi™s sarcoma herpes virus (KSHV)
leukemia
lung cancer
medulloblastoma
metastatic androgen independent prostate cancer
multiple myeloma (MM)
non-small cell lung cancer
ocular melanoma
oral cancer
ovarian cancer
papilloma and carcinoma of the vocal tract
peritoneal carcinomatosis
renal cell carcinoma (RCC)
retinoblastoma
tac-expressing adult T-cell leukemia
oral cancer
oral clefts
oral-facial-digital syndromes
orofacial clefting syndromes
Osler-Weber-Rendu disease
osteoarthritis
osteogenesis imperfecta (OI)
osteomyelitis
osteopetrosis
osteoporosis
ovarian cancer
oxalate stone disease
oxalosis
Pallister-Hall syndrome
papilloma and carcinoma of the vocal tract
papillomavirus
Papillon-Lefevre syndrome (PLS)
Parkinson™s disease
paroxysmal nocturnal hemoglobinuria (PNH)
pediatric HIV/AIDS
pericarditis
periodontitis, early-onset
peritoneal carcinomatosis
peroxisomal disorders
persistent hyperinsulinemic hypoglycemia of infancy (PHHI)
persistent pulmonary hypertension of the newborn (PPHN)
pertussis
Peutz-Jeghers syndrome
pigment dispersion syndrome
plexiform neurofibromatosis type 1
polycystic kidney disease (PKD)
polycystic ovarian syndrome (PCOS)
polydactyly
polymorphic amyloid degeneration
premature ovarian failure (POF)
primary ciliary dyskinesia (PCD)
primary immunodeficiencies
primary pigmented nodular adrenocortical disease (PPNAD)
primary pulmonary hypertension (PPH)
primary spinal syringomyelia
prion diseases
progeroid syndromes
progestin-induced dysphoria
pseudoxanthoma elasticum (PXE)
pulmonary alveolar proteinosis (PAP)
Refsum's disease
Reis Bucklers™ corneal dystrophy
renal cell carcinoma (RCC)
renal disease, end-stage
respiratory disorders
acute pulmonary hemosiderosis
acute respiratory distress syndrome
alpha-1-antitrypsin (AAT) deficiency
asbestosis
bronchopulmonary dysplasia (BPD)
cystic fibrosis (CF)
familial PPH (FPPH)
hantavirus pulmonary syndrome (HPS)
idiopathic pulmonary fibrosis (IPF)
Kartegener™s syndrome
lung cancer
lymphangioleiomyomatosis (LAM)
persistent pulmonary hypertension of the newborn (PPHN)
pertussis
primary ciliary dyskinesia (PCD)
primary pulmonary hypertension (PPH)
pulmonary alveolar proteinosis (PAP)
sleep apnea
Wegener's granulomatosis
whooping cough
retinitis pigmentosa
retinoblastoma
Rett syndrome
rheumatoid arthritis (RA)
Rieger syndrome
Romano-Ward syndrome
sarcoidosis
schizophrenia
scleroderma
sepsis
septic arthritis
severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN)
severe combined immunodeficiency (SCID)
SGD syndrome
Shprintzen syndrome
Shwachmann-Diamond syndrome
sickle cell anemia (SCA)
sickle cell disease (SCD)
Simpson-Golabi-Behmel syndrome
single gene defect diseases
Sjögren's syndrome
sleep apnea
Smith-Lemli-Opitz (SLO) syndrome
Smith-Magenis syndrome (SMS)
spasmodic dysphonia
spastic cerebral palsy
spinal muscular atrophy
spinocerebellar ataxia-1 (SCA1)
Stickler syndrome
streptococcal toxic shock syndrome
sudden infant death syndrome (SIDS)
supravalvular aortic stenosis (SVAS)
systemic lupus erythematosus (SLE)
systemic sclerosis
tac-expressing adult T-cell leukemia
Tangier disease
Tay-Sachs disease
temporomandibular disorder (TMD)
thalassemia
thalassemia major
thanatophoric dysplasia (TD)
thrombocytopenia
thrombotic thrombocytopenic purpura (TTP)
tinnitus
TNF receptor-associated periodic syndrome
Tourette syndrome
transfusion dependent 5q minus syndrome
trichothiodystrophy (TTD)
trinucleotide repeat diseases
trisomy 2p syndrome
Turner's syndrome
type 1 hereditary sensory neuropathy
type II diabetes mellitus
Usher syndrome
van der Woude syndrome
velo-cardio-facial syndrome/Di George syndrome (VCFS/DGS)
vitiligo
von Hippel-Lindau disease (VHL)
vulvodynia
Waardenburg syndrome (WS)
Waldenstrom™s macroglobulinemia (WM)
Wegener's granulomatosis
Werner syndrome
whooping cough
Williams syndrome (WMS)
Wiskott-Aldrich syndrome (WAS)
X-linked disorder
X-linked hyper-IgM syndrome (XHIM)
X-linked mental retardation
xeroderma pigmentosum (XP)
Zellweger syndrome
Zollinger-Ellison syndrome

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Last Reviewed: January 27, 2005
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