Albinism |
Clinical and Basic Investigations into Hermansky-Pudlak Syndrome |
Yes |
Albinism |
Clinical, Cellular, and Molecular Investigation Into Oculocutaneous Albinism |
Yes |
Alkaptonuria |
Study of Alkaptonuria |
Yes |
Amino Acid Metabolism |
Clinical and Laboratory Study of Methylmalonic Acidemia |
Yes |
Atopic Dermatitis |
Study of Skin Microflora in Children with Atopic Dermatitis: Eczema |
Yes |
Attention Deficit Hyperactivity Disorder |
Attention Deficit Hyperactivity Disorder (ADHD) Study |
Yes |
Attention Deficit Disorder with Hyperactivity |
Genetic Analysis of Attention Deficit Hyperactivity Disorder (ADHD) |
Yes |
Autosomal Recessive |
Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Firbrosis |
Yes |
Bardet-Biedl Syndrome |
Genetics and Clinical Characteristics of Bardet-Biedl Syndrome |
Yes |
Birth Defects |
Clinical and Genetic Studies of VACTERL Association |
Yes |
Brain Disorders |
A Study of the Genetic Analysis of Brain Disorders |
Yes |
Breast Cancer |
Cancer Genetics CD-ROM for Hispanics |
No |
Cancer Genetics |
Exploratory Data Analysis for Disease Pedigrees and Cancer Genetics |
Yes |
Cataracts |
Family Studies of Eye Traits
|
No |
Chediak-Higashi Syndrome |
Study of Chediak-Higashi Syndrome |
Yes |
ClinSeq |
ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study |
Yes |
Chromosome Abnormalities |
Natural History Study of Smith-Magenis Syndrome |
Yes |
Colonic Neoplasm |
Outcomes in Education and Counseling for HNPCC Testing |
Yes |
Colon Cancer |
Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer |
Yes |
Coronary Artery Calcification |
ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study |
Yes |
Craniosynostosis |
Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) |
Yes |
Cystinosis |
Use of Cysteamine in the Treatment of Cystinosis |
Yes |
Diabetes |
Risk Communication Within Mexican-American Families |
No |
Diabetes Mellitus |
Mapping Genes for Non-Insulin Dependent Diabetes Mellitus |
Yes |
Eczema |
Studies of Skin Microbes in Healthy People and in People With Skin Conditions |
Yes |
Eczema |
Study of Skin Microflora in Children with Atopic Dermatitis: Eczema |
Yes |
Epilepsy |
Phenotype and Etiology of Pallister-Hall Syndrome |
Yes |
Gaucher's Disease |
Genetic Studies of Lysosomal Storage Disorders |
Yes |
Gaucher's Disease |
Nervous System Degeneration in Glycosphingolipid Storage Disorders |
Yes |
Gaucher's Disease |
Positron Emission Tomography (PET) Imaging in People With Gaucher Mutations |
Yes |
Genetic Disease |
Genetic Studies in the Amish and Mennonites |
Yes |
Genetic Linkage |
Genetic Analysis of Gray Platelet Syndrome |
Yes |
Genetic Variation |
Physicians' Understanding of Human Genetic Variation |
Yes |
Gray Platelet Syndrome |
Genetic Analysis of Gray Platelet Syndrome |
Yes |
Growth Disorder |
Study of Proteus Syndrome and Related Congenital Disorders |
Yes |
Hamartoma |
Phenotype and Etiology of Pallister-Hall Syndrome |
Yes |
Healthy Individuals |
Genetic Analysis of Immune Disorders |
Yes |
Healthy Individuals |
PET Scanning in Parkinson's Disease |
Yes |
Healthy Individuals |
Study of Autoimmune Lymphoproliferative Syndrome (ALPS) |
Yes |
Hereditary Neoplastic Syndrome |
Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer |
Yes |
Hermansky-Pudlak Syndrome |
Clinical and Basic Investigations into Hermansky-Pudlak Syndrome |
Yes |
Hermansky-Pudlak Syndrome |
Pilot Study of a Multi-Drug Regimen for Severe Pulmonary Fibrosis in Hermansky-Pudlak Syndrome | Yes |
Holoprosencephaly |
Clinical and Genetic Studies on Holoprosencephaly |
Yes |
Immunologic Deficiency Syndrome |
Genetic Analysis of Immune Disorders |
Yes |
Immunologic Deficiency Syndrome |
Molecular and Clinical Studies of Primary Immunodeficiency Diseases |
Yes |
Inborn Errors of Metabolism |
Clinical and Laboratory Study of Methylmalonic Acidemia |
Yes |
Inborn Errors of Metabolism |
Diagnosis and Treatment of Patients With Inborn Errors of Metabolism |
Yes |
Intestinal Disease |
Clinical and Basic Investigations into Hermansky-Pudlak Syndrome |
Yes |
Job's Syndrome |
Genetic Analysis of Immune Disorders |
Yes |
Kidney Disease |
Clinical and Basic Investigations into Hermansky-Pudlak Syndrome |
Yes |
Kidney Disease, Polycystic |
Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Firbrosis |
Yes |
Leukoodystrophies |
Leukodystrophies of Unknown Cause |
Yes |
Leukoodystrophy |
The Nosology and Etiology of Leukodystrophies of Unknown Causes |
Yes |
Lung Cancer |
Genetic Epidemiology of Lung Cancer |
Yes |
Lysosomal Storage Disorders |
Genetic Studies of Lysosomal Storage Disorders |
Yes |
Medical Sequencing |
ClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study |
Yes |
Mental Retardation |
Study of Proteus Syndrome and Related Congenital Disorders |
Yes |
Methylmalonic Acidemia |
Clinical and Laboratory Study of Methylmalonic Acidemia |
Yes |
Muenke Syndrome |
Clinical Study of Muenke Syndrome (FGFR3-Related Craniosynostosis) |
Yes |
Multiple Congenital Anomaly Syndromes |
Whole Genome Medical Sequencing for Genome Discovery |
Yes |
Multiple Abnormalies |
Phenotype and Etiology of Pallister-Hall Syndrome |
Yes |
Multiple Abnormalies |
Study of Proteus Syndrome and Related Congenital Disorders |
Yes |
Myelofibrosis |
Genetic Analysis of Gray Platelet Syndrome |
Yes |
Myocardial Disease |
Clinical and Basic Investigations into Hermansky-Pudlak Syndrome |
Yes |
Neuropathy |
Genetics of Type 2 Diabetes in West Africans |
Yes |
Niemann-Pick Disease |
Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl |
Yes |
Oral Clefts |
Genetic Analysis of Hereditary Non-Syndromic Oral Clefts |
Yes |
Oral-Facial-Digital Syndromes |
Oral-Facial-Digital Syndromes (OFDS) Research Study |
Yes |
Pallister-Hall Syndrome |
Phenotype and Etiology of Pallister-Hall Syndrome |
Yes |
Parkinson's Disease |
PET Scanning in Parkinson's Disease |
Yes |
Polycystic Kidney |
Evaluation of Autosomal Recessive Polycystic Kidney Disease and Congenital Hepatic Fibrosis |
Yes |
Polydactyly |
Polydactyly Research Study |
Yes |
Proteus Syndrome |
Study of Proteus Syndrome and Related Congenital Disorders |
Yes |
Pulmonary Fibrosis |
Specimen Procurement From People With Pulmonary Fibrosis |
Yes |
Rectal Cancer |
Study of the Results of Education and Counseling for Persons Undergoing Genetic Testing for Hereditary Nonpolyposis Colon Cancer |
Yes |
Severe Combined Immunodeficiency |
Genetic Analysis of Immune Disorders |
Yes |
Severe Combined Immunodeficiency |
Gene Transfer Therapy for Severe Combined Immunodeficieny Disease (SCID) due to Adenosine Deaminase (ADA) Deficiency |
Yes |
Smith Magenis Syndrome |
Natural History Study of Smith-Magenis Syndrome |
Yes |
Smith Magenis Syndrome |
Treatment Strategies for Children With Smith-Magenis Syndrome |
No |
Urea Cycle Disorders |
NIH UNI Study: Urea Cycle Disorders, Nutrition and Immunity |
Yes |
Syndactyly |
Phenotype and Etiology of Pallister-Hall Syndrome |
Yes |
Wiskott-Aldrich Syndrome |
Molecular and Clinical Studies of Primary Immunodeficiency Diseases |
Yes |