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Report on the Rare Diseases and Conditions Research Activities of the National Institutes of Health FY 2001

Index


abetalipoproteinemia
absent eyes
acanthocytosis
acanthosis nigricans
achondroplasia, severe
acute chest syndrome
acute lymphoblastic leukemia (ALL)
acute myelogenous leukemia
adrenoleukodystrophy
neonatal
adult T-cell leukemia
advanced sleep phase syndrome
aganglionosis
AIDS
associated primary effusion lymphoma
lymphoma, AIDS-related
Alagille syndrome
alcoholic liver disease
alcoholic pancreatitis
alcoholism
Alexander disease
alien limb syndrome
alkaptonuria
allergy
ALS/parkinsonism/dementia complex of Guam
Alström syndrome
Alzheimer disease
amebiasis
amelogenesis imperfecta
Amish microcephaly
amyloidosis
amyotrophic lateral sclerosis (ALS)
anemia
aplastic
Cooley’s
Fanconi
fetal
Mediterranean
sickle cell disease
severe hemolytic disease of the fetus
Angelman syndrome
angiitis
angiomyolipomas
anorexia nervosa
anthrax
antiphospholipid syndrome
a 1-antitrypsin deficiency
anxiety disorders
aplastic anemia
apnea, sleep
arrhythmias
arrhythmogenic right-ventricular dysplasia (ARVD)
arthralgia
arthritis
asbestosis
aspergillosis
asthma
astigmatism
ataxias
ataxia telangiectasia
cancer
atherosclerosis
ATP synthase deficiency
ATRX syndrome
attention deficit hyperactivity disorder (ADHD)
autism
autoimmune diseases
autoimmune lymphoproliferative syndrome (ALPS)
Avellino corneal dystrophies
Axenfeld-Rieger malformations
bacterial sialadenitis
Bardet-Biedl syndrome
bare lymphocyte syndrome
Barrett’s esophagus
Barth syndrome
Bartter syndrome
Batten disease
behavioral and learning disorders
attention deficit hyperactivity disorder (ADHD)
autism
developmental delay
mental retardation
beryllium-induced diseases
bilateral hearing loss
biliary atresia
bipolar disorder
adolescent
childhood
Birt Hogg Dube (BHD) syndrome
black death
bladder cancer
blepharophimosis-ptosis–epicanthus inversus syndrome (BPES)
blindness
blood disorders
b -chain hemoglobinopathies
hemochromatosis
hemoglobinopathy
hemophilia
immune thrombocytopenic purpura
leukemia
leukocyte adhesion deficiency type I
leukodystrophy
leukopenia
pancytopenia
paroxysmal nocturnal hemoglobinuria
porphyria
primary eosinophilic disease
b -sitosterolemia
T-cell leukemia, adult
thalassemia
thrombocytopenia
thrombosis
thrombotic thrombocytopenic purpura
Von Willebrand disease
Bloom syndrome
body dysmorphic disorder (BDD)
bone abnormalities
Borrelia burgdorferi
. See Lyme disease
bovine spongiform encephalopathy
brachydactyly
brain tumors
breast cancer
bronchitis
brucellosis See also Mediterranean fever, familial
Brugada syndrome
Bubble Boy disease. See severe combined immunodeficiency disease
bulimia nervosa
Burkitt lymphoma
camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome
cancer. See also oncology
ataxia telangiectasia
bladder
brain
breast
cervical
childhood. See pediatric malignancies
colon
endometrial
esophageal
gastric
head and neck
kidney
liver
lung
ovarian
pancreatic
primary eye
prostate
skin
squamous cell esophageal
testicular
cardiac hypertrophy
cardiac outflow tract anomalies
cardiomyopathy
dilated
doxorubicin
familial hypertrophic
cardiovascular disorders
arrhythmias
arrhythmogenic right-ventricular dysplasia
atherosclerotic heart disease,
cardiac hypertrophy
cardiac outflow tract anomalies
cardiomyopathy, dilated
cardiovascular disease
congenital heart disease
coronary heart disease
heart attack
hypertension
hypotension, neurally mediated
inflammatory heart disease
long QT syndrome
myocardial infarction
myocarditis
pediatric cardiovascular disease
stroke
sudden cardiac death
vasculitis
cataplexy
cataract
cephalopolysyndactyly syndrome
cerebellar abnormalities
cerebral palsy
cervical cancer
b -chain hemoglobinopathies
Chediak-Higashi
chickenpox
childhood cancer. See pediatric malignancies
chlamydia
cholera
choroidal melanoma
chromosome 18 disorders
chronic fatigue syndrome
chronic granulomatous disease
chronic nonmalignant adenopathy
chronic obstructive pulmonary disease (COPD)
chronic renal insufficiency
Churg-Strauss syndrome
cirrhosis
cleft lip/palate
CLPED1 syndrome
clubfoot
cocaine
addiction
nervousness induced by
neurological deficits induced by
coccidioidomycosis
Cockayne syndrome
colon cancer
common variable immunodeficiency
congenital anomalies and syndromes
adrenal hyperplasia
central hypoventilation syndrome
cleft lip/palate
craniofacial anomalies
craniosynostosis
cretinism
diaphragmatic hernia
disorders of glycosylation
fibrosis syndromes
heart disease
hypodontia
hypothyroidism
holoprosencephaly
left-right axis malformations
malformed limbs
microcephaly
multiple congenital anomaly/mental retardation syndromes
neural tube defects
nonsyndromic cleft lip and cleft palate
oral clefts
orofacial clefting syndromes
short-limbed dwarfism
situs inversus
visceral malformations
connective tissue and musculoskeletal disorders
angiomyolipomas
arthralgia
arthritis
bone abnormalities
brachydactyly
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
clubfoot
congenital fibrosis syndromes
connective tissue
degenerative joint disease
dermatomyositis, juvenile
Duchenne muscular dystrophy
dysplasias
dystonia
early rheumatoid arthritis
ectodermal dysplasia
Ehlers-Danlos syndrome
Emery-Dreifuss muscular dystrophy
facioscapulohumeral muscular dystrophy
exostoses, multiple hereditary
fibromyalgia
fibrotic diseases
fibrous dysplasia
Greig cephalopolysyndactyly syndrome
heritable disorders of connective tissue
heteroplasia, osseous, progressive
hypochondroplasia
hypotonia
idiopathic inflammatory myopathies
incontinentia pigmenti
inflammatory muscle disease
Lyme-associated arthritis
McCune-Albright syndrome
musculoskeletal and skin diseases
myalgia
myositis
myotonia
myotonic dystrophy
osteoarthritis
osteogenesis imperfecta
osteoporosis
Paget disease
polydactyly
pseudoxanthoma elasticum
rheumatoid arthritis
rhizomelic chondrodysplasia punctata
short-limbed dwarfism
Sjögren syndrome
skeletal dysplasia
synovial hyperplasia
temporomandibular joint disorder
thanatophoric dysplasia type II
conotruncal anomaly unusual face syndrome
Cooley’s anemia
copper deficiency
corneal diseases
coronary heart disease
corticobasal degeneration
Cowden syndrome
cowpox
craniofacial anomalies
craniosynostosis
cretinism
Creutzfeldt-Jakob disease
cryptococcosis, 10, 20
cryptorchidism, 89
cryptosporidiosis, 10
cystic fibrosis
cysticercosis
cystinosis
cystinuria
cytomegalovirus
decreased visual acuity
deep venous thrombosis
degenerative diseases
degenerative joint disease
dementia
dengue
dental caries
dental disorders
amelogenesis imperfecta
congenital hypodontia
dental caries
dentinogenesis imperfecta
gingival fibromatosis, hereditary
hypodontia
periodontitis
dentinogenesis imperfecta
depression
dermal fibrosis
dermatitis
dermatomyositis, juvenile
developmental delay
diabetes
gestational
lipoatrophic
mellitus
maturity-onset diabetes of the young
nephropathy
diarrhea
DiGeorge syndrome
Down syndrome
Duchenne muscular dystrophy
dwarfism
dysautonomia, familial
dysbetalipoproteinemia
dyskeratosis congenita (DKC)
dyslipidemia
dysplasia
acanthosis nigricans
arrhythmogenic right-ventricular
bronchopulmonary
cardiac
ectodermal
fibrous
hypochondroplasia
myelodysplasia
rhizomelic chondrodysplasia punctata
skeletal
thanatophoric, type II
dystonia
early rheumatoid arthritis
early-onset periodontitis
eating disorders
anorexia nervosa
bulimia nervosa
Ehlers-Danlos syndrome
Emery-Dreifuss muscular dystrophy
emphysema
encephalitis
encephalopathy
endocrine and metabolic disorders
abetalipoproteinemia
adrenal hyperplasia, congenital
adrenoleukodystrophy
alkaptonuria
ATP synthase deficiency
congenital disorders of glycosylation
copper deficiency
cystinosis
diabetes mellitus
dysbetalipoproteinemia
dyslipidemia
Fabry disease
galactosemia
genetic metabolic diseases
glucocorticoid remediable aldosteronism
goiter
Hermansky-Pudlak
Hurler syndrome
hypercalcemia
hypercholesterolemia, familial
hyperinsulinemia
hyperoxaluria
hyperparathyroidism-jaw tumor syndrome
hypertriglyceridemia
hypobetalipoproteinemia, familial
hypoplasia of the thymus
hypothyroidism, congenital
inborn errors of metabolism
lipoatrophic diabetes
lipodystrophy
lysosomal storage disease
Menkes disease
metabolic disorders
mucopolysaccharidosis
neoplasia, endocrine, multiple
neuraminidase deficiency
Niemann-Pick disease
phenylketonuria, maternal
premature ovarian failure
primary hyperparathyroidism
pseudohypoparathyroidism
trimethylaminuria
endolymphatic sac tumors
endometrial cancer
end-stage renal disease (ESRD)
entamoeba hystolytica
enteric infection
enteroviral sepsis, neonatal
epididymal cystadenomas
epilepsy
Epstein-Barr virus (EBV)
esophageal adenocarcinoma
Ewing family tumor
Ewing sarcoma
eye disorders
absent eyes
albinism type
astigmatism
Avellino corneal dystrophies
blepharophimosis-ptosis–epicanthus inversus
syndrome
blindness
cataract
choroidal melanoma
cytomegalovirus retinitis
corneal diseases
decreased visual acuity
foveal hypoplasia
gelatinous droplike dystrophy
goniodysgenesis
Hallervorden-Spatz syndrome
immobile ciliary syndrome
iris adhesions
iris hypoplasia
juvenile rheumatoid arthritis uveitis
keratoconus
lattice corneal dystrophy
Leber’s congenital amaurosis
Lenz microphthalmia syndrome
macular dystrophy
melanoma
myopia
nearsightedness, progressive
nystagmus
oculocutaneous albinism
opacification, progressive
ophthalmoplegia, progressive external
photophobia
photoreceptor degeneration, progressive
refractive errors
Reis Bücklers
retinal angiomas
retinal degeneration
retinitis
retinitis pigmentosa
Schwalbe line
strabismus
toxoplasmosis
Fabry disease
facial dysmorphism
facial dysmorphogenesis
facioscapulohumeral muscular dystrophy
familial dysautonomia
familial hypercholesterolemia
familial hypobetalipoproteinemia
Fanconi anemia
Fanconi syndrome
fatigue
fatty liver
fetal alcohol syndrome (FAS)
fetal anemia
fetal edema
fibromyalgia
fibroproliferative lung disease
fibrosis
fibrotic lung disease
flesh-eating disease
focal necrosis
foveal hypoplasia
fragile X syndrome
Friedreich ataxia
fungal cells
fungal infection
fungal pathogens
galactosemia
gastroesophageal reflux disease
gastrointestinal disorders
aganglionosis
Barrett’s esophagus
biliary atresia
cirrhosis
colon cancer
diarrhea
fatty liver
gastroesophageal reflux disease
hepatic and renal abnormalities
hepatic fibrosis
hepatic inflammation
hepatitis, neonatal
hepatosplenomegaly
Hirschsprung disease
irritable bowel syndrome
islet cell tumors
kidney disease
liver disease
pancreatic insufficiency
pancreatitis
splenomegaly
steatosis
stromal tumors
gelatinous droplike dystrophy
genetic disorders
chromosome
cystic fibrosis
Down syndrome
dwarfism
Huntington disease
metabolic diseases
oculocutaneous albinism
peroxisomal biogenesis disorders
Prader-Willi syndrome
genitourinary abnormalities
gestational diabetes mellitus (GDM)
giardiasis
glanders
glioblastoma multiforme
gliomas
glomerulonephritis
glucocorticoid remediable aldosteronism
goiter
goniodysgenesis
graft versus host disease (GVHD)
granulocytic ehrlichiosis
granulomatosis
granulomatous lesions
Greig cephalopolysyndactyly syndrome
Hallervorden-Spatz syndrome
hantavirus pulmonary syndrome
head and neck cancer
hearing loss
heart attack
helminth disease
hemangioblastoma of the cerebellum and spine
hemochromatosis
hemoglobinopathy
hemolytic disease of the fetus/newborn
hemolytic uremic syndrome
hemophilia
hepatic fibrosis
hepatic inflammation
hepatic tumor
hepatitis
neonatal
hepatocellular carcinoma
hepatosplenomegaly
hereditary disorders
cerebellar ataxia syndrome
deafness
exocytoses
gingival fibromatosis
nonpolyposis colon cancer
oxalate stone disease
sensory and autonomic neuropathy type III
sensory neuropathy, type 1
heritable disorders of connective tissue
Hermansky-Pudlak
herpesvirus
Kaposi sarcoma
neonatal
simplex
heterotaxia
Hirschsprung disease
histoplasmosis
HIV (human immunodeficiency virus)
associated progressive multifocal leukoencephalopathy
holoprosencephaly
human papillomavirus
Huntington disease
Hurler syndrome
Hutchinson-Gilford progeria syndrome
hypercalcemia
hyper-IgE syndrome
hyperinsulinemia
hyperoxaluria
hyperparathyroidism-jaw tumor (HPT-JT) syndrome
hypertension
hypertriglyceridemia
hypochondroplasia
hypodontia
hypopigmentation
hypoplasia of the thymus
hypospadias
hypotension, neurally mediated
hypotonia
iatrogenic disorders
beryllium-induced diseases
cardiomyopathy, doxorubicin
fetal alcohol syndrome
graft versus host disease
idiopathic inflammatory myopathies (IIMs)
idiopathic pulmonary fibrosis (IPF)
immobile ciliary syndrome
immune thrombocytopenic purpura (ITP)
immunologic disorders
AIDS
autoimmune lymphoproliferative syndrome
bare lymphocyte syndrome
Bubble Boy disease. See severe combined immunodeficiency disease
common variable immunodeficiency
graft versus host disease
hyper-IgE syndrome
primary immunodeficiency diseases
severe combined immunodeficiency disease
X-linked agammaglobulinemia
inborn errors of metabolism
incontinentia pigmenti
infantile neuronal ceroid lipofuscinosis
infections
amebiasis
anthrax
aspergillosis
bacterial sialadenitis
black death
Borrelia burgdorferi. See Lyme disease
brucellosis
chickenpox
chlamydia
cholera
coccidioidomycosis
cowpox
cryptococcosis
cryptosporidiosis
cysticercosis
cytomegalovirus
dengue
entamoeba hystolytica
enteric
Epstein-Barr virus
flesh-eating disease
fungal
giardiasis
glanders
granulocytic ehrlichiosis
hantavirus pulmonary syndrome
helminth diseases
hepatitis
herpesvirus
histoplasmosis
HIV
human papillomavirus
influenza
Kaposi sarcoma herpesvirus
leishmania
Lyme disease
lymphogranuloma venereum
malaria
measles
meningitis
meningococcus
microsporidiosis
mucocutaneous candidiasis
mucosal
neuroborreliosis
nocardiosis
noma
orthopox
otitis media
parasitic
pertussis
plague
pneumococcus
poliomyelitis
Q fever
rabies
reovirus
rheumatic fever
rickettsia
Rocky Mountain spotted fever
scarlet fever
sexually transmitted disease
strep throat
streptococcus
tetanus
toxoplasmosis
tropical parasites
tuberculosis
tularemia
typhus
vaccinia
viral infection
West Nile virus
yellow fever
zoonotic
infectious retinitis
inflammatory heart disease
inflammatory muscle disease
influenza
insomnia
interstitial pneumonitis and fibrosis
intracranial hemorrhage
iris
irritable bowel syndrome (IBS)
islet cell tumors
Job syndrome
Joubert syndrome
juvenile neuronal ceroid lipofuscinosis
Kallmann syndrome
Kaposi sarcoma
Kartegener syndrome
Kawasaki disease
keloid
keratoconus
kidney and urinary tract disorders
chronic renal insufficiency
cryptorchidism
cystinuria
diabetic neuropathy
end-stage renal disease
genitourinary abnormalities
glomerulonephritis
hereditary oxalate stone disease
hypospadias
kidney disease
nephropathy
paroxysmal nocturnal hemoglobinuria
polyomavirus nephropathy
renal failure
renal necrosis
Wegener’s granulomatosis
kidney cancer
Klippel-Trenaunay-Weber syndrome
large vestibular aqueduct syndrome
lattice corneal dystrophy
Leber’s congenital amaurosis (LCA)
left-right (L-R) axis malformations
leishmania
Lenz microphthalmia syndrome
leukemia
childhood
lymphoblastic, acute
myelogenous, acute
T-cell, adult
leukocyte adhesion deficiency type I
leukodystrophy
leukopenia
Liddle syndrome
Li-Fraumeni syndrome
lipodystrophy
liver cancer
liver disease
localized juvenile periodontitis
long QT syndrome (LQTS)
Lou Gehrig disease. See amyotrophic lateral sclerosis
Lowe syndrome
lung cancer
lung cysts
lung hypoplasia
lupus. See systemic lupus erythematosus
Lupus Multiplex Registry and Repository
Lyme disease
Lyme-associated arthritis
lymphangioleiomyomatosis
lymphangitis
lymphedema
lymphogranuloma venereum
lymphoma
AIDS-related
Burkitt
non-Hodgkin
small lymphocytic
lymphomatoid granulomatosis
lymphomatous meningitis
lysosomal storage disease
macular dystrophy
malaria
male infertility
malformed limbs
mania
Marfan syndrome
maternal phenylketonuria
McCune-Albright syndrome
McKusick-Kaufman syndrome
measles
Mediterranean anemia
Mediterranean fever, familial
melanoma
meningitis
meningococcus
Menkes disease
mental retardation
metabolic disorders. See Endocrine and Metabolic Disorders
methamphetamine addiction
microcephaly
microsporidiosis
motor neuron disorders
motor tics
mucocutaneous candidiasis
mucopolysaccharidosis
mucosal infection
multiple congenital anomaly/mental retardation (MCA/MR) syndromes
multiple endocrine neoplasia
multiple sclerosis (MS)
myalgia
myasthenia gravis
mycosis fungoides
myelodysplasia
myeloma
myocardial infarction
myocarditis
myopia
myositis
dermatomyositis, juvenile
juvenile
pediatric
myotonia
myotonia congenita
myotonic dystrophy
narcolepsy
nearsightedness, progressive
necrotizing fasciitis
necrotizing granulomas
nemaline myopathy
nervous system disorders
Alexander disease
alien limb syndrome
ALS/parkinsonism/dementia complex of Guam
Alzheimer disease
Amish microcephaly
amyotrophic lateral sclerosis
ataxias
ataxia telangiectasia
Batten disease
bilateral hearing loss
bovine spongiform encephalopathy
cataplexy
cerebellar abnormalities
cerebellar ataxia syndrome, hereditary
cerebral palsy
corticobasal degeneration
Creutzfeldt-Jakob disease
encephalitis
encephalopathy
epilepsy
Friedreich ataxia
glioblastoma multiforme
gliomas
Hallervorden-Spatz syndrome
hearing loss
hemangioblastoma, cerebellum and spine
heterotaxia
hypotension, neurally mediated
Huntington disease
intracranial hemorrhage
Lou Gehrig disease. See amyotrophic lateral sclerosis
lymphomatous meningitis
motor neuron disorders
nemaline myopathy
neural tube defects
neurodegenerative diseases
neurofibromatosis
neurological abnormalities
neurological disease
neuropathy
neurotransmitter diseases
orofacial neuropathies
Parkinson disease
presenile familial dementia
prion diseases
progressive multifocal leukoencephalopathy
seizures
sensorineural deafness
severe progressive neurological dysfunction
spastic cerebral palsy
spinal muscular atrophy
spongiform encephalopathy
tinnitus
Tourette syndrome
vertigo
vestibular dysfunction
neural tube defects
neuraminidase deficiency
neuroblastoma
neuroborreliosis
neurodegenerative diseases
neurofibromatosis
neurological abnormalities
neuropathy
auditory
diabetic
peripheral
sensory, type 1, hereditary
sensory and autonomic type III, hereditary

neurotransmitter diseases
Niemann-Pick disease
Nijmegen breakage syndrome
nocardiosis
noma
non-Hodgkin lymphoma
nosocomial pneumonia
nutrition disorders
anorexia nervosa
bulimia nervosa
eating disorders
obesity
wasting
nystagmus
obesity
obsessive-compulsive disorder
ocular albinism type 1 (OA1)
ocular melanoma
ocular toxoplasmosis
oculocutaneous albinism (OCA)
oligodendroglioma
oncology. See also cancer
AIDS-associated primary effusion lymphoma
brain tumors
Burkitt lymphoma
depression
endolymphatic sac tumors
epididymal cystadenomas
esophageal adenocarcinoma
Ewing family tumor
Ewing sarcoma
gastrointestinal stromal tumors
hepatic tumor
hepatocellular carcinoma
Kaposi sarcoma
lymphoma
melanoma
multiple myeloma
mycosis fungoides
myelodysplasia
neuroblastoma
non-Hodgkin lymphoma
oligodendroglioma
osteosarcoma
pediatric malignancies
pheochromocytomas
primitive neuroectodermal tumor
renal cell carcinoma
sarcoma
T-cell lymphoma
Ondine’s curse
opacification, progressive
opiate and cocaine addiction
oral clefts
orofacial clefting syndromes
orofacial neuropathies
orthopox
orthostatic intolerance
osseous heteroplasia, progressive
osteoarthritis
osteogenesis imperfecta
osteoporosis
osteosarcoma
otitis media
ovarian cancer
Paget disease
Pallister-Hall syndrome
pancreatic cancer
pancreatic insufficiency
pancreatitis
pancytopenia
papilloma and carcinoma of vocal tract
parathyroid glands
parasitic infection
Parkinson disease
paroxysmal nocturnal hemoglobinuria (PNH)
pediatric cardiovascular disease
pediatric malignancies
pediatric myositis
Pendred syndrome
periodontitis
peroxisomal biogenesis disorders
persistent fetal circulation syndrome
persistent pulmonary hypertension of newborn
pertussis
pheochromocytomas
photophobia
photoreceptor degeneration, progressive
plague
pneumococcus
pneumocystis pneumonia
pneumonia
poliomyelitis
polydactyly
polymorphic amyloid degeneration
polyomavirus nephropathy
polythelia
porphyria
porphyria cutanea tarda (PCT)
Prader-Willi syndrome
premature aging disorders
premature cardiovascular disease
premature ovarian failure (POF)
presenile familial dementia
primary ciliary dyskinesia
primary eosinophilic disease
primary eye cancer
primary hyperparathyroidism
primary immunodeficiency diseases
primitive neuroectodermal tumor
prion diseases
progeroid syndromes
progressive external ophthalmoplegia (PEO)
progressive multifocal leukoencephalopathy (PML)
prostatitis
Proteus syndrome
pseudohypoparathyroidism
pseudoxanthoma elasticum
psoriasis
psychiatric disorders
anxiety disorders
autism
bipolar disorder
body dysmorphic disorder
dementia
depression
mania
obsessive-compulsive disorder
psychosis
schizophrenia
psychosis
pulmonary embolism
pulmonary fibrosis
pulmonary hemorrhage
pulmonary hypertension
pulmonary sarcoidosis,
Q fever
rabies
refractive errors
Refsum disease
Reis Bücklers
renal cell cancer. See kidney cancer
renal cell carcinoma
renal failure
renal necrosis
reovirus
respiratory distress syndrome, acute
respiratory system disorders
asbestosis
asthma
bronchitis
bronchopulmonary dysplasia
chronic obstructive pulmonary disease
congenital central hypoventilation syndrome
emphysema
fibroproliferative lung disease
fibrotic lung disease
idiopathic pulmonary fibrosis
interstitial pneumonitis and fibrosis
lung cysts
lung hypoplasia
lymphangioleiomyomatosis
nosocomial pneumonia
persistent pulmonary hypertension of newborn
pneumocystis pneumonia
pneumonia
primary ciliary dyskinesia
pulmonary embolism
pulmonary fibrosis
pulmonary hemorrhage
pulmonary hypertension
pulmonary sarcoidosis
respiratory distress syndrome, acute
sinusitis
spontaneous pneumothorax
retinal angiomas
retinal degeneration
retinitis
retinitis pigmentosa
Rett syndrome
rheumatic fever
rheumatoid arthritis
juvenile
rhizomelic chondrodysplasia punctata
rickettsia
Rieger syndrome
Riley-Day syndrome
Rocky Mountain spotted fever
Rothmund-Thompson syndrome
salivary gland disorders
Sanfilippo syndrome
sarcoidosis
sarcoma
scarlet fever
schizophrenia
Schwalbe line
scleroderma
seizures
sensorineural deafness
severe combined immunodeficiency disease (SCID)
short-limbed dwarfism
sexually transmitted diseases
SGD syndrome
short stature
shprintzen
sickle cell disease
Simpson Golabi Behmel syndrome
sinusitis
b -sitosterolemia
situs inversus
Sjögren syndrome
skin abscesses, recurrent
skin cancer
skin disorders
abscesses, recurrent
acanthosis nigricans
conditions
dermal fibrosis
dermatitis
hypopigmentation
keloid
porphyria cutanea tarda
psoriasis
rashes
Sturge-Weber syndrome
vitiligo
xanthoma
xeroderma pigmentosum
sleep disorders
advanced sleep phase syndrome
apnea
insomnia
narcolepsy
small lymphocytic lymphoma
Smith-Lemli-Opitz syndrome
Smith-Magenis syndrome
spastic cerebral palsy
spinal muscular atrophy
splenomegaly
spongiform encephalopathy
spontaneous pneumothorax
squamous cell esophageal cancer
steatosis
Stickler syndrome
stiff person syndrome
strabismus
strep throat
streptococcus
stroke
Sturge-Weber syndrome
substance abuse
sudden cardiac death
sudden infant death syndrome
syncope
syndrome X
synovial hyperplasia
systemic lupus erythematosus (SLE)
anti-CD20 therapy
childhood-onset
Lupus Multiplex Registry and Repository
neuropsychiatric
Tangier disease
T-cell lymphoma
temporomandibular joint disorder
testicular cancer
tetanus
thalassemia
thanatophoric dysplasia type II
thrombocytopenia
thrombosis
thrombotic thrombocytopenic purpura (TTP)
tinnitus
Tourette syndrome
toxic shock syndrome
toxoplasmosis
trichothiodystrophy
trimethylaminuria
tropical parasites
tuberculosis
tuberous sclerosis complex (TSC)
tularemia
typhus
Usher syndrome
vaccinia
vascular disorders
angiitis
atherosclerosis
deep venous thrombosis
lymphomatoid granulomatosis
occlusive diseases
vaso-occlusive pain crisis
vasculitis
vaso-occlusive pain crisis
velocardiofacial syndrome (VCFS)
vertigo
vestibular dysfunction
viral infection
visceral malformations
vitiligo
von Hippel-Lindau syndrome
Von Willebrand disease (VWD)
vulvodynia
Waardenburg syndrome
wasting
Wegener's granulomatosis
Werner syndrome
West Nile virus
whooping cough. See pertussis
Williams syndrome
Wilson disease
Wiskott-Aldrich syndrome
xanthoma
xeroderma pigmentosum
xerostomia
X-linked agammaglobulinemia (XLA)
X-linked lymphoproliferative disease (XLP)
yellow fever
Zellweger syndrome
zoonotic

 

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Last Reviewed: June 30, 2003
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