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Health Library Genes and Chromosomes

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5-Oxoprolinuria

Aarskog Syndrome

Achondrogenesis

Acidemia, Isovaleric

Acidemia, Methylmalonic

Acidemia, Propionic

Acrocallosal Syndrome, Schinzel Type

Acrodermatitis Enteropathica

Acromesomelic Dysplasia

Acromicric Dysplasia

ACTH Deficiency

Adams Oliver Syndrome

Adrenal Hyperplasia, Congenital (General)

Adrenoleukodystrophy

Aicardi Syndrome

Alagille Syndrome

Albinism, ocular

Allan Herndon Syndrome

Alpha Thalassemia X-linked Mental Retardation Syndrome

Alpha-1 Antitrypsin Deficiency Genetic Testing

Alpha-1-Antitrypsin Deficiency

Alpha-Fetoprotein (AFP) in Blood

Alpha-Mannosidosis

Alport Syndrome

Alstrom Syndrome

Amelogenesis Imperfecta

Andersen Disease (GSD IV)

Androgen Insensitivity Syndrome, Partial

Anemia, Blackfan Diamond

Anemia, Fanconi

Anemia, Hereditary Nonspherocytic Hemolytic

Anemia, Hereditary Spherocytic Hemolytic

Anemia, Megaloblastic

Anemias, Sideroblastic

Angelman Syndrome

Angioedema, Hereditary

Antibiotics for cystic fibrosis

Anticholinergics for cystic fibrosis

Antifibrinolytic agents for hemophilia

Antley Bixler Syndrome

Aplasia Cutis Congenita

Arginase Deficiency

Argininosuccinic Aciduria

Ashkenazi Jewish Genetic Panel (AJGP)

Aspartylglycosaminuria

Ataxia Telangiectasia

Ataxia with Vitamin E Deficiency

Ataxia, Hereditary, Autosomal Dominant

Atypical Mole Syndrome

Baller Gerold Syndrome

Barakat Syndrome

Bardet Biedl Syndrome

Beckwith Wiedemann Syndrome

Bernard Soulier Syndrome

Best Vitelliform Macular Dystrophy

Biotinidase deficiency

Birt-Hogg-Dube Syndrome

Birth Defects Testing

Bjornstad Syndrome

Blepharospasm, Benign Essential

Blue Diaper Syndrome

Blue Rubber Bleb Nevus Syndrome

Borjeson-Forssman-Lehman Syndrome

Bowen Hutterite Syndrome

Branchio Oculo Facial Syndrome

Branchio Oto Renal Syndrome

Breast and Ovarian Cancer (BRCA) Genetic Test

Breast Cancer (BRCA) Gene Test

Bronchodilators for cystic fibrosis

Campomelic Syndrome

Camurati-Engelmann Disease

Canavan Disease

Cancer Genetics Overview (PDQ®): Genetics - Health Professional Information [NCI]

Cancer Genetics Risk Assessment and Counseling (PDQ®): Genetics - Health Professional Information [NCI]

Carbamyl Phosphate Synthetase Deficiency

Cardiofaciocutaneous Syndrome

Carnitine Deficiency Syndrome

Carnitine Palmitoyltransferase 1A Deficiency

Carpenter Syndrome

Cat Eye Syndrome

Cataract Dental Syndrome

Cavernous Malformation

Central Core Disease

Cerebellar Agenesis

Cerebro Oculo Facio Skeletal Syndrome

Cerebrocostomandibular Syndrome

Cerebrotendinous Xanthomatosis

Charcot Marie Tooth Disease

CHARGE Syndrome

Chediak Higashi Syndrome

Cholesteryl Ester Storage Disease

Chondrocalcinosis, Familial Articular

Chorionic Villus Sampling (CVS)

Chromosome 10, Distal Trisomy 10q

Chromosome 10, Monosomy 10p

Chromosome 11, Partial Monosomy 11q

Chromosome 11, Partial Trisomy 11q

Chromosome 13, Partial Monosomy 13q

Chromosome 14 Ring

Chromosome 14, Trisomy Mosaic

Chromosome 15 Ring

Chromosome 15, Distal Trisomy 15q

Chromosome 18 Ring

Chromosome 18, Monosomy 18p

Chromosome 18, Tetrasomy 18p

Chromosome 18q- Syndrome

Chromosome 21 Ring

Chromosome 22 Ring

Chromosome 22, Trisomy Mosaic

Chromosome 3, Monosomy 3p

Chromosome 3, Trisomy 3q2

Chromosome 4 Ring

Chromosome 4, Monosomy 4q

Chromosome 4, Monosomy Distal 4q

Chromosome 4, Partial Trisomy Distal 4q

Chromosome 4, Trisomy 4p

Chromosome 5, Trisomy 5p

Chromosome 6 Ring

Chromosome 6, Partial Trisomy 6q

Chromosome 7, Partial Monosomy 7p

Chromosome 8, Monosomy 8p

Chromosome 9 Ring

Chromosome 9, Partial Monosomy 9p

Chromosome 9, Tetrasomy 9p

Chromosome 9, Trisomy 9p (Multiple Variants)

Chromosome 9, Trisomy Mosaic

Cleidocranial Dysplasia

Clotting factor replacement for hemophilia

Cockayne Syndrome

Coffin Lowry Syndrome

Coffin Siris Syndrome

Colon Cancer Genetic Testing

Common Variable Immunodeficiency

Congenital Disorders of Glycosylation Type Ia

Congenital Heart Defects

Congenital Lactic Acidosis

Congenital Muscular Dystrophy

Conradi Hunermann Syndrome

Corneal Dystrophies

Cornelia de Lange Syndrome

Corticosteroids for cystic fibrosis

Craniofrontonasal Dysplasia

Craniometaphyseal Dysplasia

Cri du Chat Syndrome

Crouzon Syndrome

Cutis Marmorata Telangiectatica Congenita

Cystic Fibrosis

Cystic Fibrosis

Cystic Fibrosis Carrier Screening

Cystic fibrosis: Helping your child cough up mucus

Cytochrome C Oxidase Deficiency

De Barsy Syndrome

Dejerine Sottas Disease

Dentin Dysplasia, Coronal

Dentin Dysplasia, Type I

Dentinogenesis Imperfecta Type III

Desmopressin acetate for hemophilia

Diastrophic Dysplasia

DiGeorge Syndrome

Disaccharide Intolerance I

DNA Fingerprinting

DNase (dornase alfa) for cystic fibrosis

Dravet Syndrome

Dubin Johnson Syndrome

Dubowitz Syndrome

Dyggve Melchior Clausen Syndrome

Dysautonomia, Familial

Dyschondrosteosis

Dyskeratosis Congenita

Dystrophy, Asphyxiating Thoracic

Dystrophy, Myotonic

Ear, Patella, Short Stature Syndrome

Ectodermal Dysplasias

Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate

Ehlers Danlos Syndrome

Ellis Van Creveld Syndrome

Empty Sella Syndrome

Endocardial Fibroelastosis

Enzyme replacement therapy for cystic fibrosis

Epidermolysis Bullosa

Epidermolytic Hyperkeratosis

Erythrokeratodermia with Ataxia

Erythropoietic Protoporphyria

Esophageal Atresia and/or Tracheoesophageal Fistula

Familial Adenomatous Polyposis

Familial Hypercholesterolemia

Familial Idiopathic Basal Ganglia Calcification

Familial Lipoprotein Lipase Deficiency

Farber's Disease

FG Syndrome Type 1

Fiber Type Disproportion, Congenital

Fibrodysplasia Ossificans Progressiva (FOP)

Filippi Syndrome

Focal Dermal Hypoplasia

Fountain Syndrome

Fragile X Syndrome

Fraser Syndrome

Freeman Sheldon Syndrome

Frontofacionasal Dysplasia

Frontonasal Dysplasia

Fructose Intolerance, Hereditary

Fukuyama Type Congenital Muscular Dystrophy

Galactosemia Test

Galloway-Mowat Syndrome

Gardner Syndrome

Gaucher Disease

Genetics of Colorectal Cancer (PDQ®): Genetics - Health Professional Information [NCI]

Genetics of Medullary Thyroid Cancer (PDQ®): Genetics - Health Professional Information [NCI]

Genetics of Prostate Cancer (PDQ®): Genetics - Health Professional Information [NCI]

Genetics of Skin Cancer (PDQ®): Genetics - Health Professional Information [NCI]

Giant Axonal Neuropathy

Gilbert Syndrome

Glanzmann Thrombasthenia

Glucose-6-Phosphate Dehydrogenase Deficiency

Glucose-Galactose Malabsorption

Glutaricaciduria I

Glutaricaciduria II

Glycogen Storage Disease Type I

Glycogen Storage Disease Type V

Glycogen Storage Disease Type VII

Glycogen Storage Disease VIII

Goodman Syndrome

Gordon Syndrome

Gorlin-Chaudhry-Moss Syndrome

Gottron Syndrome

Granulomatous Disease, Chronic

Greig Cephalopolysyndactyly Syndrome

Hageman Factor Deficiency

Hailey-Hailey Disease

Haim-Munk Syndrome

Hajdu Cheney Syndrome

Hallermann Streiff Syndrome

Hartnup Disease

Hay-Wells Syndrome

Hematuria, Benign, Familial

Hemochromatosis Gene Test (HFE Test)

Hemochromatosis Genetic Screening

Hemochromatosis, Hereditary

Hemophilia: Should I have regularly scheduled or on-demand clotting factor replacement?

Hepatic Fibrosis, Congenital

Hereditary Exostoses, Multiple

Hermansky Pudlak Syndrome

Holt Oram Syndrome

Human HOXA1 Syndromes

Hunter Syndrome

Huntington's Disease

Huntington's Disease Genetic Test

Hydroxyurea for sickle cell disease

Hyper IgE Syndrome, Autosomal Recessive

Hyper IgM Syndrome

Hyperferritinemia Cataract Syndrome

Hyperlipoproteinemia Type III

Hyperlipoproteinemia Type IV

Hyperoxaluria, Primary (Type I)

Hyperprolinemia Type I

Hyperprolinemia Type II

Hypochondroplasia

Hypohidrotic Ectodermal Dysplasia

Hypophosphatasia

Hypophosphatemia, Familial

Ichthyosis Hystrix, Curth Macklin Type

Ichthyosis Vulgaris

Ichthyosis, Chanarin Dorfman Syndrome

Ichthyosis, CHILD Syndrome

Ichthyosis, Erythrokeratodermia Progressiva Symmetrica

Ichthyosis, Erythrokeratodermia Variabilis

Ichthyosis, Erythrokeratolysis Hiemalis

Ichthyosis, Harlequin Type

Ichthyosis, Lamellar

Ichthyosis, Netherton Syndrome

Ichthyosis, Sjogren Larsson Syndrome

Ichthyosis, Trichothiodystrophy

Ichthyosis, X Linked

Incontinentia Pigmenti

Infantile Neuroaxonal Dystrophy

Intestinal Pseudoobstruction

IRF6-Related Disorders

Jackson-Weiss Syndrome

Jarcho-Levin Syndrome

Jejunal Atresia

Jervell and Lange-Nielsen Syndrome

Johanson-Blizzard Syndrome

Joubert Syndrome

Juberg-Marsidi Syndrome

Jumping Frenchmen of Maine

Kabuki Make-up Syndrome

Kallmann Syndrome

Kearns Sayre Syndrome

Kennedy Disease

Kenny-Caffey Syndrome

Keratitis Ichthyosis Deafness Syndrome

Keratosis Follicularis

Klinefelter Syndrome

Klinefelter Syndrome

Klippel-Trenaunay Syndrome

Kniest Dysplasia

Kugelberg Welander Syndrome

Laband Syndrome

Larsen Syndrome

Laurence Moon Syndrome

Leber Hereditary Optic Neuropathy

Leber's Congenital Amaurosis

Leigh's Disease

Leiomyosarcoma, General

Lenz Microphthalmia Syndrome

LEOPARD Syndrome

Leri Pleonosteosis

Lesch Nyhan Syndrome

Leukocyte Adhesion Deficiency Syndromes

Leukodystrophy, Krabbe's

Leukodystrophy, Metachromatic

Loken Senior Syndrome

Lung transplant for cystic fibrosis

Lymphedema, Hereditary

Lymphedema-Distichiasis Syndrome

Machado-Joseph Disease

Macrocephaly, Cutis Marmorata Telangiectatica Congenita Syndrome

Malignant Hyperthermia

Maple Syrup Urine Disease

Marden Walker Syndrome

Marfan Syndrome

Marinesco Sjogren Syndrome

Maroteaux Lamy Syndrome

Marshall Syndrome

Maxillofacial Dysostosis

May Hegglin Anomaly

McCune Albright Syndrome

McKusick Type Metaphyseal Chondrodysplasia

Mediterranean Fever, Familial

Medium Chain Acyl CoA Dehydrogenase Deficiency

Medullary Cystic Kidney Disease/Nephronophthisis

Melnick Needles Syndrome

Membrane stabilizers for cystic fibrosis

Metaphyseal Chondrodysplasia, Schmid Type

Metatropic Dysplasia I

Microvillus Inclusion Disease

Miller Syndrome

Mitochondrial Neurogastrointestinal Encephalopathy

Morquio Syndrome

Muckle-Wells Syndrome

Mucolipidosis IV

Mucolytics for cystic fibrosis

Mucopolysaccharidoses

Mucopolysaccharidosis Type I

Mucopolysaccharidosis Type III

Mulibrey Nanism

Multiple Epiphyseal Dysplasia

Multiple Sulfatase Deficiency

Mulvihill Smith Syndrome

Muscular Dystrophies, Limb Girdle

Muscular Dystrophy, Becker

Muscular Dystrophy, Duchenne

Muscular Dystrophy, Emery Dreifuss

Myopathy, Congenital, Batten Turner Type

Myopathy, Desmin Storage

Myopathy, Scapuloperoneal

Myotonia Congenita

Myotubular Myopathy

N-Acetyl Glutamate Synthetase Deficiency

Nail Patella Syndrome

Nemaline Myopathy

Nephrogenic Diabetes Insipidus

Neu Laxova Syndrome

Neuroacanthocytosis

Neurodegeneration with Brain Iron Accumulation Type 1

Neurofibromatosis Type 1 (NF-1)

Neurofibromatosis Type 2 (NF-2)

Neuropathy, Hereditary Sensory, Type I

Neuropathy, Hereditary Sensory, Type II

Nevoid Basal Cell Carcinoma Syndrome

Niemann Pick Disease

Nonketotic Hyperglycinemia

Noonan Syndrome

Ocular Motor Apraxia, Cogan Type

Oculo-Dento-Digital Dysplasia

Oculocerebral Syndrome with Hypopigmentation

Oculocerebrocutaneous Syndrome

Olivopontocerebellar Atrophy

Opitz G/BBB Syndrome

Oral-Facial-Digital Syndrome

Ornithine Transcarbamylase Deficiency

Orocraniodigital Syndrome

OSMED, Homozygous

Otopalatodigital Syndrome Type I and II

Ovotesticular Disorder of Sex Development

Pachydermoperiostosis

Pachyonychia Congenita

Pallister Hall Syndrome

Pallister Killian Mosaic Syndrome

Pallister W Syndrome

Papillon Lefevre Syndrome

Paramyotonia Congenita

Paraplegia, Hereditary Spastic

Peeling Skin Syndrome

Pelizaeus Merzbacher Brain Sclerosis

Penta X Syndrome

Pentalogy of Cantrell

PEPCK Deficiency

Peutz Jeghers Syndrome

Pfeiffer syndrome

Phelan-McDermid Syndrome

Phenylketonuria

Phenylketonuria (PKU)

Phenylketonuria (PKU) Test

Phocomelia Syndrome

Phosphoglycerate Kinase Deficiency

Polycystic Kidney Disease, Autosomal Dominant

Polycystic Kidney Diseases

Polycystic Liver Disease

Polycystic Ovary Syndrome (PCOS)

Polycythemia Vera

Porphyria Cutanea Tarda

Porphyria, Acute Intermittent

Porphyria, ALA-D

Porphyria, Congenital Erythropoietic

Porphyria, Hereditary Coproporphyria

Porphyria, Variegate

Pregnancy: Should I have amniocentesis?

Pregnancy: Should I have CVS (chorionic villus sampling)?

Pregnancy: Should I have the maternal serum triple or quadruple test?

Primary Agammaglobulinemias

Primary Ciliary Dyskinesia

Progeria, Hutchinson Gilford

Progressive Osseous Heteroplasia (POH)

Pseudo Hurler Polydystrophy

Pseudocholinesterase Deficiency

Pseudohypoparathyroidism

Pseudoxanthoma Elasticum (PXE)

PTEN Hamartoma Tumor Syndrome

Pterygium Syndrome, Multiple

Pyknodysostosis

Pyruvate Carboxylase Deficiency

Pyruvate Dehydrogenase Deficiency

Pyruvate Kinase Deficiency

Radiation Syndromes

Rapp Hodgkin Syndrome

Rieger Syndrome

Roberts Syndrome

Robinow Syndrome

Romano Ward Syndrome

Rosenberg Chutorian Syndrome

Rothmund Thomson Syndrome

Roussy Levy Syndrome

Rubinstein Taybi Syndrome

Russell Silver Syndrome (RSS)

Ruvalcaba Syndrome

Saethre Chotzen Syndrome

Sakati Syndrome

Sandhoff Disease

Schimke Immuno-osseous Dysplasia

Schindler Disease

Schwartz Jampel Syndrome

Scott Craniodigital Syndrome

Seckel Syndrome

Segawa Syndrome

Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)

Shwachman Syndrome

Sickle Cell Disease

Sickle Cell Test

Simpson Dysmorphia Syndrome

Singleton Merten Syndrome

Smith Lemli Opitz Syndrome

Smith Magenis Syndrome

Spinal Muscular Atrophy

Spinocerebellar Ataxia with Axonal Neuropathy

Split Hand/Split Foot Malformation

Spondyloepiphyseal Dysplasia Tarda

Spondyloepiphyseal Dysplasia, Congenital

Stool analysis for cystic fibrosis

Sturge Weber Syndrome

Succinic Semialdehyde Dehydrogenase Deficiency

Summitt Syndrome

Tangier Disease

Tay Sachs Disease

Tay-Sachs Disease

Tetrahydrobiopterin Deficiency

Thalassemia Major

Thalassemia Minor

Three M Syndrome

Thrombocytopenia Absent Radius Syndrome

Timothy Syndrome

Tooth and Nail Syndrome

Tourette's Disorder

Townes Brocks Syndrome

Treacher Collins Syndrome

Tricho Dento Osseous Syndrome

Trichorhinophalangeal Syndrome Type I

Trichorhinophalangeal Syndrome Type II

Trichorhinophalangeal Syndrome Type III

Trimethylaminuria

Triplo X Syndrome

Triploid Syndrome

Trismus Pseudocamptodactyly Syndrome

Trisomy 13 Syndrome

Trisomy 18 Syndrome

Tuberous Sclerosis

Turner Syndrome

Tyrosinemia, Hereditary

Velocardiofacial Syndrome

Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)

Von Hippel-Lindau Syndrome

Von Willebrand Disease

Waardenburg Syndrome

Walker Warburg Syndrome

WAS related disorders

Weaver Syndrome

Weill Marchesani Syndrome

Weismann Netter Stuhl Syndrome

Werner Syndrome

Wieacker Syndrome

Wildervanck Syndrome

Williams Syndrome

Wilson's Disease

Winchester Syndrome

Wolf Hirschhorn Syndrome

Wolfram Syndrome

Wyburn Mason Syndrome

X linked Juvenile Retinoschisis

X linked Lymphoproliferative Syndrome

X-Linked Myopathy with Excessive Autophagy

X-linked Opitz G/BBB syndrome

Xeroderma Pigmentosum

Yunis Varon Syndrome

Zellweger Spectrum Disorders

Symptom Checker

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