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Diagnostics - Arrayit Human Rare Disease Analysis using Whole Genome Microarray Expression Profiling and Advanced Bioinformatics to Elucidate Rare Diseases

orphan diseases
Arrayit offers the market's first service dedicated exclusively to elucidating rare human diseases. Rare (orphan) diseases are conditions presenting in a small percentage of the population, typically from 1 in 1,000-200,000 persons. More than 3,100 rare diseases have been identified but in many cases the molecular details are poorly understood. We deploy our patented and proprietary microarray platform on a genomic scale to elucidate the molecular basis of any rare disease quickly and efficiently. Control and test samples of mRNA are compared to produce a gene expression signature for each disease. Gene expression data are then examined computationally using advanced mathematics to produce a "best-fit" biological pathway. The sensitivity and specificity of our microarray platform enables a deeper examination of the transcriptome than competing platforms and a more complete understanding of rare diseases. Genotyping and proteomic analyses are also available to confirm and extend each analysis.

Ordering Information



Catalog ID

Price (US Dollars)*

Arrayit Rare Disease Analysis

Arrayit Rare Disease Analysis provides functional elucidation of rare human diseases using H25K whole genome expression analysis and Genome Pathway Builder™ bioinformatics, multiple microarrays and “dye swap” analysis ensures definitive results, mRNA profiling produces unambiguous expression signature, one spot-one gene™ microarray design enables ultra-deep transcriptome “drill down” to identify activated and repressed human genes that provide an unprecendented understanding of any rare human disease that manifests as altered gene expression. Each analysis generates approximately 10,000,000 data points and includes a complete customer report. Pricing is per pair of control and test mRNA samples.



Arrayit Rare Disease Analysis Discounts
1-5 samples - list price
2-5 samples - 5% discount
6-10 samples - 10% discount
11-20 samples -15% discount
21-30 samples - 20% discount
>30 samples - please inquire

For ordering information, technical assistance and shipping schedules please contact us by telephone 408-744-1331, email or use the purchase buttons to order directly to the Arrayit Store.

*International pricing may vary by as much as 30% or more because import duties, stocking fees and technical support.

*Add shipping and handling to all orders.

Arrayit Rare Disease Analysis has been developed for research use only and should not be used for in vitro diagnostics. Extreme care and exact attention should be practiced in the use of this product and data. Arrayit Rare Disease Analysis is performed using the highest industry standards, quality control and quality assurance. This service is guaranteed when deployed according to instructions with high quality customer RNA samples. Arrayit assumes no liability for improper use of this service and our liability is limited to data replacement only. Any misuse of this service is the full responsibility of the customer, and Arrayit makes no warranty or guarantee under such circumstances.

Rare Disease Database
Aarskog Syndrome
Aase Syndrome
Ablepharon Macrostomia Syndrome
Acanthosis Nigricans
Achard Thiers Syndrome
Acidemia Isovaleric
Acidemia, Methylmalonic
Acidemia, Propionic
Acne Rosacea
Acoustic Neuroma
Acquired Aplastic Anemia
Acquired Hemophilia
Acquired Neuromyotonia
Acrocallosal Syndrome, Schinzel Type
Acrodermatitis Enteropathica
Acromesomelic Dysplasia
Acromicric Dysplasia
ACTH Deficiency
Acute Eosinophilic Pneumonia
Acute Respiratory Distress Syndrome
Adams Oliver Syndrome
Addison's Disease
Adenoid Cystic Carcinoma
Adenylosuccinate Lyase Deficiency
Adie Syndrome
Adult Onset Still's Disease
Adult Panic Anxiety Syndrome
Afibrinogenemia, Congenital
Agenesis of Corpus Callosum
Agranulocytosis, Acquired
Ahumada-Del Castillo Syndrome
Aicardi Syndrome
AIDS (Acquired Immune Deficiency Syndrome)
AIDS Dysmorphic Syndrome
Alagille Syndrome
Albinism, Oculocutaneous
Alexander Disease
Alopecia Areata
Alpers Disease
Alpha-1 Antitrypsin Deficiency
Alpha Thalassemia X-linked Intellectual Disability Syndrome
Alport Syndrome
Alstrom Syndrome
Alternating Hemiplegia of Childhood
Alveolar Capillary Dysplasia
Alveolar Soft Part Sarcoma
Alveolitis, Extrinsic Allergic
Alzheimer's Disease
Ameloblastic Carcinoma
Amelogenesis Imperfecta
Amenorrhea, Primary
Amniotic Band Syndrome
Amyotrophic Lateral Sclerosis
Andersen Disease (GSD IV)
Androgen Insensitivity Syndrome, Partial
Anemia, Blackfan Diamond
Anemia, Fanconi
Anemia, Hemolytic, Acquired Autoimmune
Anemia, Hemolytic, Cold Antibody
Anemia, Hereditary Nonspherocytic Hemolytic
Anemia, Hereditary Spherocytic Hemolytic
Anemia, Megaloblastic
Anemia of Chronic Disease
Anemia, Pernicious
Anemias, Sideroblastic
Angelman Syndrome
Angioedema, Hereditary
Angioimmunoblastic T-Cell Lymphoma
Aniridia Cerebellar Ataxia Mental Deficiency
Ankylosing Spondylitis
Anorexia Nervosa
Antiphospholipid Syndrome
Antisocial Personality Disorder
Antithrombin Deficiency
Antley Bixler Syndrome
Apert Syndrome
Aplasia Cutis Congenita
Apnea, Infantile
Apnea, Sleep
APS Type-1
Arachnoid Cysts
Arginase Deficiency
Argininosuccinic Aciduria
Arteriovenous Malformation
Arteritis, Giant Cell
Arteritis, Takayasu
Arthritis, Infectious
Arthritis, Juvenile Rheumatoid
Arthritis, Psoriatic
Arthritis, Reactive
Arthrogryposis Multiplex Congenita
Asherman's Syndrome
Asherson's Syndrome
Asperger's Syndrome
Astrocytoma, Anaplastic
Ataxia, Friedreich's
Ataxia, Hereditary, Autosomal Dominant
Ataxia Telangiectasia
Ataxia with Vitamin E Deficiency
Atrial Septal Defects
Atrioventricular Septal Defect
Attention Deficit Hyperactivity Disorder
Atypical Hemolytic Uremic Syndrome
Atypical Mole Syndrome
Autoimmune Blistering Diseases
Autoimmune Polyendocrine Syndrome Type II
Autoimmune Thyroiditis
Autosomal Dominant Interstitial Kidney Disease
Autosomal Dominant Porencephaly Type I
Baller Gerold Syndrome
Balo Disease
Banti's Syndrome
Barakat Syndrome
Bardet Biedl Syndrome
Barrett Esophagus
Barth Syndrome
Bartter's Syndrome
Batten Disease
Beals Syndrome
Beckwith Wiedemann Syndrome
Behcet's syndrome
Bell's Palsy
Benign Essential Tremor
Benign Paroxysmal Positional Vertigo
Bernard Soulier syndrome
Best Vitelliform Macular Dystrophy
Binswanger's Disease
Biotinidase deficiency
Birt-Hogg-Dub← Syndrome
Bjornstad Syndrome
Bladder Exstrophy-Epispadias-Cloacal Exstrophy Complex
Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome
Blepharospasm, Benign Essential
Bloom Syndrome
Blue Diaper Syndrome
Blue Rubber Bleb Nevus syndrome
Borjeson-Forssman-Lehman Syndrome
Bowen Disease
Bowen Hutterite Syndrome
Bowenoid Papulosis
Brachial Plexus Palsy
Brain Tumors, General
Branchio Oculo Facial Syndrome
Branchio Oto Renal Syndrome
Bronchiolitis Obliterans Organizing Pneumonia
Bronchopulmonary Dysplasia (BPD)
Brown Sequard Syndrome
Brown Syndrome
Brugada Syndrome
Budd Chiari Syndrome
Buerger's Disease
Bullous Pemphigoid
Burning Mouth Syndrome
Campomelic Syndrome
Camurati-Engelmann Disease
Canavan Disease
Cancer, Colon
Cancer, Prostate
Cancers, Skin, General
Carbamoyl Phosphate Synthetase I Deficiency
Carcinoid Syndrome
Carcinoma, Squamous Cell
Cardiofaciocutaneous Syndrome
Carney Complex
Carnitine Deficiency Syndrome
Carnitine Palmitoyltransferase 1A Deficiency
Caroli Disease
Carpal Tunnel Syndrome
Carpenter Syndrome
Castleman's Disease
Catamenial Pneumothorax
Catel Manzke Syndrome
Cat Eye Syndrome
Cat-Scratch Disease
Caudal Regression Syndrome
Cavernous Malformation
Cayler Syndrome
Celiac Disease
Central Core Disease
Central Diabetes Insipidus
Central Hypoventilation Syndrome, Congenital
Cerebellar Agenesis
Cerebellar Degeneration, Subacute
Cerebral Palsy
Cerebrocostomandibular Syndrome
Cerebro Oculo Facio Skeletal Syndrome
Cerebrotendinous Xanthomatosis
Cervical Dystonia
Cervical Teratoma
Chagas Disease
Chandler's Syndrome
Charcot Marie Tooth Disease
CHARGE Syndrome
Chediak Higashi Syndrome
Chiari Frommel Syndrome
Chiari Malformations
Chilaiditi's Syndrome
Cholesteryl Ester Storage Disease
Chondrocalcinosis, Familial Articular
Choroiditis, Serpiginous
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, Distal Trisomy 15q
Chromosome 15 Ring
Chromosome 18, Monosomy 18p
Chromosome 18q- Syndrome
Chromosome 18 Ring
Chromosome 18, Tetrasomy 18p
Chromosome 21 Ring
Chromosome 22q11.2 Deletion Syndrome
Chromosome 22 Ring
Chromosome 22, Trisomy Mosaic
Chromosome 3, Monosomy 3p
Chromosome 3, Trisomy 3q2
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, Partial Trisomy 6q
Chromosome 6 Ring
Chromosome 7, Partial Monosomy 7p
Chromosome 8, Monosomy 8p
Chromosome 9, Partial Monosomy 9p
Chromosome 9 Ring
Chromosome 9, Tetrasomy 9p
Chromosome 9, Trisomy 9p (Multiple Variants)
Chromosome 9, Trisomy Mosaic
Chronic Eosinophilic Pneumonia
Chronic Fatigue Syndrome
Chronic Fatigue Syndrome/Myalgic Encephalomyelitis
Chronic Inflammatory Demyelinating Polyneuropathy
Chronic Intestinal Pseudo-obstruction
Chronic Lymphocytic Leukemia
Chronic Myelogenous Leukemia
Churg Strauss Syndrome
Cicatricial Alopecia
Ciguatera Fish Poisoning
Cirrhosis, Primary Biliary
Citrullinemia Type 1
Cleft Palate and Cleft Lip
Cleidocranial Dysplasia
Coats Disease
Cockayne Syndrome
Coffin Lowry Syndrome
Coffin Siris Syndrome
Cogan Reese Syndrome
Cohen Syndrome
Colitis, Collagenous
Collagen Type VI-Related Disorders
Colorado Tick Fever
Common Variable Immune Deficiency
Cone Dystrophy
Congenital Adrenal Hyperplasia
Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation Type Ia
Congenital Fiber Type Disproportion
Congenital Fibrosis of the Extraocular Muscles
Congenital Lactic Acidosis
Congenital Muscular Dystrophy
Congenital Pulmonary Lymphangiectasia
Congenital Varicella Syndrome
Conjunctivitis, Ligneous
Conn Syndrome
Conradi Hunermann Syndrome
Conversion Disorder
Corneal Dystrophies
Cornelia de Lange Syndrome
Corticobasal Degeneration
Cor Triatriatum
Costello Syndrome
Craniofrontonasal Dysplasia
Craniometaphyseal Dysplasia
Craniosynostosis, Primary
Creutzfeldt Jakob Disease
Cri du Chat Syndrome
Crigler Najjar Syndrome
Crohn's Disease
Cronkhite-Canada Syndrome
Crouzon Syndrome
Cryoglobulinemia, Essential Mixed
C Syndrome
Cushing's Syndrome
Cutaneous T-Cell Lymphomas
Cutis Laxa
Cutis Marmorata Telangiectatica Congenita
Cyclic Neutropenia
Cyclic Vomiting Syndrome
Cystic Fibrosis
Cytochrome C Oxidase Deficiency
Cytomegalovirus Infection
Dandy Walker Malformation
Danon Disease
De Barsy Syndrome
Degos Disease
Dejerine Sottas Disease
Dengue Fever
Dense Deposit Disease
Dentin Dysplasia, Type I
Dentin Dysplasia Type II
Dentinogenesis Imperfecta Type III
Denys-Drash Syndrome
Depersonalization Disorder
Dercum's Disease
Dermatitis, Atopic
Dermatitis, Contact
Dermatitis Herpetiformis
De Santis Cacchione Syndrome
Desmoid Tumor
Dextrocardia with Situs Inversus
Diabetes, Insulin Dependent
Diastrophic Dysplasia
Diencephalic Syndrome
Diffuse Idiopathic Skeletal Hyperostosis
Dilatation of the Pulmonary Artery, Idiopathic
Disaccharide Intolerance I
Distal Myopathy
DOOR Syndrome
Down Syndrome
Dravet Syndrome
Duane syndrome
Dubin Johnson Syndrome
Dubowitz Syndrome
Duodenal Atresia or Stenosis
Dupuytren's Contracture
Dyggve Melchior Clausen syndrome
Dysautonomia, Familial
Dyskeratosis Congenita
Dysplasia Epiphysealis Hemimelica
Dysplasia, Fibrous
Dystrophy, Asphyxiating Thoracic
Dystrophy, Myotonic
Eales Disease
Ear, Patella, Short Stature Syndrome
Ectodermal Dysplasias
Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate
Edema, Idiopathic
Ehlers Danlos Syndrome
Eisenmenger Syndrome
Ellis Van Creveld Syndrome
Emphysema, Congenital Lobar
Empty Sella Syndrome
Encephalitis, Herpes Simplex
Encephalitis, Japanese
Encephalitis, Rasmussen's
Endocardial Fibroelastosis
Endocarditis, Infective
Endomyocardial Fibrosis
Eosinophilia Myalgia Syndrome
Eosinophilic Esophagitis
Eosinophilic Fasciitis
Eosinophilic Gastroenteritis
Epidermal Nevus Syndromes
Epidermolysis Bullosa
Epidermolytic Hyperkeratosis
Epitheliopathy, Acute Posterior Multifocal Placoid Pigment
Erdheim Chester disease
Erythema Multiforme
Erythroderma Desquamativa of Leiner
Erythrokeratodermia with Ataxia
Erythropoietic Protoporphyria
Esophageal Atresia and/or Tracheoesophageal Fistula
Essential Iris Atrophy
Essential Thrombocythemia
Ewing's Sarcoma
Extrahepatic Biliary Atresia
Fabry Disease
Facioscapulohumeral Muscular Dystrophy
Factor XIII Deficiency
Familial Adenomatous Polyposis
Familial Cold Autoinflammatory Syndrome
Familial Encephalopathy with Neuroserpin Inclusion Bodies
Familial Eosinophilic Cellulitis
Familial Hypercholesterolemia
Familial Idiopathic Basal Ganglia Calcification
Familial Isolated Hypoparathyroidism
Familial Lipoprotein Lipase Deficiency
Familial Mediterranean Fever
Farber's Disease
Felty Syndrome
Femoral Facial Syndrome
Ferroportin Disease
Fetal Alcohol Syndrome
Fetal Hydantoin Syndrome
Fetal Retinoid Syndrome
Fetal Valproate Syndrome
FG Syndrome Type 1
Fibrodysplasia Ossificans Progressiva (FOP)
Fibromatosis, Congenital Generalized
Fibromuscular Dysplasia
Fibrosing Mediastinitis
Filippi Syndrome
Fitz Hugh Curtis Syndrome
Floating Harbor Syndrome
Focal Dermal Hypoplasia
Forbes Disease
Formaldehyde Poisoning
Fountain Syndrome
Fournier Gangrene
Fox Fordyce Disease
Fragile X Syndrome
Fraser Syndrome
Freeman Sheldon Syndrome
Free Sialic Acid Storage Disorders
Frey Syndrome
Froelich's Syndrome
Frontofacionasal Dysplasia
Frontonasal Dysplasia
Fructose Intolerance, Hereditary
Fryns Syndrome
Fukuyama Type Congenital Muscular Dystrophy
Galloway-Mowat Syndrome
Gastritis, Chronic, Erosive
Gastritis, Giant Hypertrophic
Gastroesophageal Reflux
Gastrointestinal Stromal Tumors
Gaucher Disease
General Myoclonus
Geographic Tongue
Gerstmann Syndrome
Gianotti Crosti Syndrome
Giant Axonal Neuropathy
Giant Cell Myocarditis
Gilbert syndrome
Glanzmann Thrombasthenia
Glioblastoma Multiforme
Glucose-6-Phosphate Dehydrogenase Deficiency
Glucose-Galactose Malabsorption
Glucose Transporter Type 1 Deficiency Syndrome
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
Goodpasture Syndrome
Gordon Syndrome
Gorham's Disease
Gorlin-Chaudhry-Moss Syndrome
Gottron Syndrome
Graft versus Host Disease
Granuloma Annulare
Granulomatous Disease, Chronic
Graves' Disease
Greig Cephalopolysyndactyly Syndrome
Grover's Disease
Growth Delay, Constitutional
Growth Hormone Deficiency
Guillain Barr← Syndrome
Hageman Factor Deficiency
Hailey-Hailey Disease
Haim-Munk Syndrome
Hajdu Cheney Syndrome
Hallermann Streiff Syndrome
Hand-Foot-Mouth Syndrome
Hanhart Syndrome
Hantavirus Pulmonary Syndrome
Hartnup Disease
Hay-Wells Syndrome
Headache, Cluster
Heart Block, Congenital
Heavy Metal Poisoning
Hematuria, Benign, Familial
Hemochromatosis, Classic Hereditary
Hemophilia B
Hemorrhagic Telangiectasia, Hereditary
Henoch-Sch￶nlein Purpura
Hepatic Encephalopathy
Hepatic Fibrosis, Congenital
Hepatitis B
Hepatitis C
Hepatorenal Syndrome
Hereditary Exostoses, Multiple
Hereditary Hyperphosphatasia
Hermansky Pudlak syndrome
Herpes, Neonatal
Hers Disease
Hiccups, Chronic
Hidradenitis Suppurativa
Hirschsprung's Disease
Hodgkin's Disease
Holt Oram Syndrome
Homocystinuria due to Cystathionine Beta-Synthase Deficiency
Horner's Syndrome
HTLV Type I and Type II
Human Granulocytic Ehrlichiosis (HGE)
Human HOXA1 Syndromes
Human Monocytic Ehrlichiosis (HME)
Hunter Syndrome
Huntington's Disease
Hyperemesis Gravidarum
Hyperferritinemia Cataract Syndrome
Hyperhidrosis, Primary
Hyper IgD syndrome
Hyper IgE Syndrome, Autosomal Dominant
Hyper IgE Syndrome, Autosomal Recessive
Hyper IgM Syndrome
Hyperlipoproteinemia Type III
Hyperostosis Frontalis Interna
Hyperoxaluria, Primary (Type I)
Hyperprolinemia Type I
Hyperprolinemia Type II
Hypohidrotic Ectodermal Dysplasia
Hypomelanosis of Ito
Hypophosphatemia, Familial
Hypoplastic Left Heart Syndrome
Hypothalamic Hamartoma
I Cell Disease
Ichthyosis, Chanarin Dorfman Syndrome
Ichthyosis, CHILD Syndrome
Ichthyosis, Erythrokeratodermia Variabilis
Ichthyosis, Erythrokeratolysis Hiemalis
Ichthyosis, Harlequin Type
Ichthyosis Hystrix, Curth Macklin Type
Ichthyosis, Keratosis Follicularis Spinulosa Decalvans
Ichthyosis, Lamellar
Ichthyosis, Netherton Syndrome
Ichthyosis, Sjogren Larsson Syndrome
Ichthyosis, Trichothiodystrophy
Ichthyosis Vulgaris
Ichthyosis, X Linked
Idiopathic Intracranial Hypertension
Idiopathic Neonatal Hepatitis
Idiopathic Pulmonary Fibrosis
Idiopathic Thrombocytopenic Purpura
IgA Nephropathy
Imperforate Anus
Incontinentia Pigmenti
Infantile Neuroaxonal Dystrophy
IRF6-Related Disorders
Irritable Bowel Syndrome
Ivemark Syndrome
Jackson-Weiss Syndrome
Jansen Type Metaphyseal Chondrodysplasia
Jarcho-Levin Syndrome
Jejunal Atresia
Jervell and Lange-Nielsen Syndrome
Johanson-Blizzard Syndrome
Joubert Syndrome
Juberg-Marsidi Syndrome
Jumping Frenchmen of Maine
Juvenile Hemochromatosis
Juvenile Pilocytic Astrocytoma
Kabuki Syndrome
Kallmann Syndrome
Kasabach-Merritt phenomenon
Kawasaki Disease
KBG Syndrome
Kearns Sayre Syndrome
Kennedy Disease
Kenny-Caffey Syndrome
Keratitis Ichthyosis Deafness Syndrome
Keratosis Follicularis
Keratosis, Seborrheic
Kienbock Disease
Kikuchi's Disease
Kleine-Levin Syndrome
Klinefelter Syndrome
Klippel-Feil Syndrome
Klippel-Trenaunay Syndrome
Klver-Bucy Syndrome
Kniest Dysplasia
Kohler Disease
Kufs Disease
Kugelberg Welander Syndrome
L1 Syndrome
Laband Syndrome
Lactose Intolerance
LADD syndrome
Lambert-Eaton Myasthenic Syndrome
Landau Kleffner Syndrome
Langerhans Cell Histiocytosis
Larsen Syndrome
Leber Congenital Amaurosis
Leber Hereditary Optic Neuropathy
Legg Calve Perthes Disease
Legionnaires' Disease
Leigh's Disease
Leiomyosarcoma, General
Leiomyosarcoma, Inferior Vena Cava
Lennox-Gastaut Syndrome
Lenz Microphthalmia Syndrome
LEOPARD Syndrome
Leri Pleonosteosis
Lesch Nyhan Syndrome
Leukemia, Hairy Cell
Leukocyte Adhesion Deficiency Syndromes
Leukodystrophy, Krabbe's
Leukodystrophy, Metachromatic
Levy-Yeboa Syndrome
Lichen Planus
Lichen Sclerosus
Locked In Syndrome
Loken Senior Syndrome
Lowe syndrome
Low Gamma-GT Familial Intrahepatic Cholestasis
Lyme Disease
Lymphatic Malformations
Lymphedema-Distichiasis Syndrome
Lymphedema, Hereditary
Lymphocytic Infiltrate of Jessner
Lymphomatoid Granulomatosis
Lynch Syndrome
Lysosomal Storage Disorders
Machado-Joseph Disease
Macular Degeneration
Madelung's Disease
Maffucci Syndrome
Mal de Debarquement
Malignant Hyperthermia
Mallory Weiss Syndrome
Manic Depression, Bipolar
Mantle Cell Lymphoma
Maple Syrup Urine Disease
Marcus Gunn Phenomenon
Marden Walker Syndrome
Marfan Syndrome
Marinesco-Sj￶gren Syndrome
Maroteaux Lamy Syndrome
Marshall Smith Syndrome
Marshall Syndrome
Maxillofacial Dysostosis
Maxillonasal Dysplasia, Binder Type
Mayer-Rokitansky-Kuster-Hauser Syndrome
May Hegglin Anomaly
McCune Albright Syndrome
McKusick Type Metaphyseal Chondrodysplasia
MCT8-specific thyroid hormone cell transporter deficiency
MDR3 Deficiency
Meckel Syndrome
Medium Chain Acyl CoA Dehydrogenase Deficiency
Medullary Sponge Kidney
Megalencephaly-Capillary Malformation
Megalocornea Mental Retardation Syndrome
Meige Syndrome
Melanoma, Malignant
MELAS Syndrome
Meleda Disease
Melkersson Rosenthal Syndrome
Melnick Needles Syndrome
Menetrier Disease
Meniere's Disease
Meningitis, Bacterial
Meningitis, Meningococcal
Meningitis, Tuberculous
Menkes Disease
MERRF Syndrome
Mesenchymal Chondrosarcoma
Metaphyseal Chondrodysplasia, Schmid Type
Metatropic Dysplasia I
Microvillus Inclusion Disease
Mikulicz Syndrome
Miller Syndrome
Mitochondrial Neurogastrointestinal Encephalopathy
Mitral Valve Prolapse Syndrome
Mixed Connective Tissue Disease (MCTD)
Moebius Syndrome
Morquio Syndrome
Motor Neuron Disease
Mountain Sickness, Acute
Mowat-Wilson Syndrome
Moyamoya syndrome
Mucha Habermann disease
Muckle-Wells Syndrome
Mucolipidosis IV
Mucopolysaccharidosis Type I
Mucopolysaccharidosis Type III
Mucous Membrane Pemphigoid
Mulibrey Nanism
Mullerian Aplasia
Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 2
Multiple Epiphyseal Dysplasia
Multiple Sclerosis
Multiple Sulfatase Deficiency
Multiple System Atrophy
Mulvihill Smith Syndrome
Muscular Dystrophies, Limb Girdle
Muscular Dystrophy, Becker
Muscular Dystrophy, Duchenne
Muscular Dystrophy, Emery Dreifuss
Muscular Dystrophy, Oculopharyngeal
Mutism, Selective
Myasthenia Gravis
Mycosis Fungoides
Myelodysplastic Syndromes
Myeloma, Multiple
Myhre Syndrome
Myopathy, Congenital, Batten Turner Type
Myopathy, Myofibrillar
Myopathy, Scapuloperoneal
Myotonia Congenita
Myotubular Myopathy
N-Acetylglutamate Synthetase Deficiency
Nager Syndrome
Nail Patella Syndrome
Nance-Horan Syndrome
Necrotizing Fasciitis
Nelson Syndrome
Nemaline Myopathy
Neonatal Hemochromatosis
Neonatal Lupus
Neonatal-onset Multisystem Inflammatory Disease
Nephrogenic Diabetes Insipidus
Nephrogenic Systemic Fibrosis
Neu Laxova Syndrome
Neurodegeneration with Brain Iron Accumulation Type 1
Neurofibromatosis Type 1 (NF1)
Neurofibromatosis Type 2 (NF2)
Neuroleptic Malignant Syndrome
Neuromyelitis Optica
Neuropathy, Ataxia and Retinitis Pigmentosa
Neuropathy, Congenital Hypomyelination
Neuropathy, Hereditary Sensory, Type I
Neuropathy, Hereditary Sensory, Type II
Neuropathy, Hereditary Sensory, Type IV
Neuropathy, Peripheral
Neutropenia, General
Nevoid Basal Cell Carcinoma Syndrome
Niemann Pick Disease
Nonketotic Hyperglycinemia
Noonan Syndrome
Norrie Disease
Obsessive Compulsive Disorder
Ochoa Syndrome
Ocular Albinism
Ocular Motor Apraxia, Cogan Type
Oculo-Auriculo-Vertebral Spectrum
Oculocerebral Syndrome with Hypopigmentation
Oculocerebrocutaneous Syndrome
Oculo-Dento-Digital Dysplasia
Ogilvie syndrome
Olivopontocerebellar Atrophy
Ollier Disease
Opportunistic Infections
Opsoclonus-Myoclonus Syndrome
Optic Nerve Hypoplasia
Oral-Facial-Digital Syndrome
Organic Personality Syndrome
Ornithine Transcarbamylase Deficiency
Orocraniodigital Syndrome
Orthostatic Hypotension
Osgood Schlatter Condition
OSMED, Heterozygous
OSMED, Homozygous
Osteogenesis Imperfecta
Otopalatodigital Syndrome Type I and II
Ovotesticular Disorder of Sex Development
Pachyonychia Congenita
Paget's Disease
Paget's Disease of the Breast
Pallister Hall Syndrome
Pallister Killian Mosaic Syndrome
Pallister W Syndrome
Pancreatic Neuroendocrine Neoplasms (pNENs)
Panniculitis, Idiopathic Nodular
Papillon Lefevre Syndrome
Paramyotonia Congenita
Paraneoplastic Neurologic Syndromes
Paraplegia, Hereditary Spastic
Parkinson's Disease
Paroxysmal Cold Hemoglobinuria
Paroxysmal Nocturnal Hemoglobinuria
Parry Romberg Syndrome
Parsonage Turner Syndrome
Pars Planitis
Patulous Eustachian Tube
Pediatric Cardiomyopathy
Peeling Skin Syndrome
Pelizaeus Merzbacher disease
Pentalogy of Cantrell
Penta X Syndrome
PEPCK Deficiency
Perisylvian Syndrome, Congenital Bilateral
Peutz Jeghers Syndrome
Peyronie's disease
Pfeiffer syndrome
Phelan-McDermid Syndrome
Phocomelia Syndrome
Phosphoglycerate Kinase Deficiency
Pick Disease
Pierre Robin Sequence
Pineal Cysts, Symptomatic
Pityriasis Rosea
Pityriasis Rubra Pilaris
Pleuropulmonary Blastoma
Pneumonia, Interstitial
POEMS Syndrome
Poland Syndrome
Polyarteritis Nodosa
Polycystic Kidney Disease, Autosomal Dominant
Polycystic Kidney Disease, Autosomal Recessive
Polycystic Liver Disease
Polycystic Ovary Syndrome
Polycythemia Vera
Polyglucosan Body Disease, Adult
Polymorphous Low-Grade Adenocarcinoma
Polymyalgia Rheumatica
Pompe Disease
Pontocerebellar Hypoplasia
Porphyria, Acute Intermittent
Porphyria, ALA-D
Porphyria, Congenital Erythropoietic
Porphyria Cutanea Tarda
Porphyria, Hereditary Coproporphyria
Porphyria, Variegate
Posterior Uveitis
Post Polio Syndrome
Prader Willi Syndrome
Precocious Puberty
Primary Ciliary Dyskinesia
Primary Gastric Lymphoma
Primary Growth Hormone Insensitivity
Primary Intestinal Lymphangiectasia
Primary Lateral Sclerosis
Primary Myelofibrosis
Primary Orthostatic Tremor
Primary Sclerosing Cholangitis
Primary Visual Agnosia
Progeria, Hutchinson Gilford
Progressive Multifocal Leukoencephalopathy
Progressive Myoclonus Epilepsy
Progressive Osseous Heteroplasia (POH)
Progressive Supranuclear Palsy
Progressive Symmetric Erythrokeratodermia
Proteus syndrome
Prune Belly Syndrome
Pseudoachondroplastic Dysplasia
Pseudocholinesterase Deficiency
Pseudo Hurler Polydystrophy
Pseudomyxoma Peritonei
Pseudoxanthoma Elasticum (PXE)
PTEN Hamartoma Tumor Syndrome
Pterygium Syndrome, Multiple
Pulmonary Alveolar Proteinosis
Pulmonary Arterial Hypertension
Pulmonary Hypertension, Secondary
Pure Red Cell Aplasia, Acquired
Pyoderma Gangrenosum
Pyridoxine-Dependent Epilepsy
Pyruvate Carboxylase Deficiency
Pyruvate Dehydrogenase Complex Deficiency
Pyruvate Kinase Deficiency
Q fever
Rabson-Mendenhall Syndrome
Radiation Sickness
Ramsay Hunt Syndrome
Rapid-onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation
Rapp Hodgkin Syndrome
Raynaud's Disease and Phenomenon
Recurrent Respiratory Papillomatosis
Reflex Sympathetic Dystrophy Syndrome
Refractory Sprue
Refsum Disease
Relapsing Polychondritis
Renal Agenesis, Bilateral
Renal Cell Carcinoma
Renal Glycosuria
Respiratory Distress Syndrome, Infant
Restless Legs syndrome
Retinitis Pigmentosa
Retinopathy, Arteriosclerotic
Retinopathy, Diabetic
Retinopathy, Hypertensive
Retinopathy of Prematurity
Retroperitoneal Fibrosis
Rett Syndrome
Reye Syndrome
Rh Disease
Rheumatic Fever
Rickets, Vitamin D Deficiency
Rieger Syndrome
Ring Chromosome 4
Roberts Syndrome
Robinow Syndrome
Rocky Mountain Spotted Fever
Romano Ward Syndrome
Rosai-Dorfman Disease
Rosenberg Chutorian Syndrome
Roseola Infantum
Rothmund Thomson Syndrome
Roussy Levy Syndrome
Rubella, Congenital
Rubinstein Taybi Syndrome
Russell Silver Syndrome (RSS)
Ruvalcaba Syndrome
Sacrococcygeal Teratoma
Saethre Chotzen Syndrome
Sakati Syndrome
Sandhoff Disease
Santavuori Disease
Schimke Immuno-osseous Dysplasia
Schindler disease
Schinzel Giedion Syndrome
Schinzel Syndrome
Schnitzler Syndrome
Schwartz Jampel Syndrome
Sclerosing Mesenteritis
Scott Craniodigital Syndrome
Seckel Syndrome
Segawa Syndrome
Sennetsu Fever
Setleis Syndrome
Severe Combined Immunodeficiency
Sheehan syndrome
Short Bowel Syndrome
Short Chain Acyl CoA Dehydrogenase Deficiency (SCAD)
SHORT Syndrome
Shwachman Syndrome
Sickle Cell Disease
Simian B Virus Infection
Simple Pulmonary Eosinophilia
Simpson Dysmorphia Syndrome
Singleton Merten syndrome
Sinonasal Undifferentiated Carcinoma
Sirenomelia Sequence
Sjogren Syndrome
Sly Syndrome
Smith Lemli Opitz Syndrome
Smith Magenis Syndrome
Sneddon Syndrome
Sotos Syndrome
Spasmodic Dysphonia
Spina Bifida
Spinal Muscular Atrophy
Spinocerebellar Ataxia with Axonal Neuropathy
Split Hand/Split Foot Malformation
Spondyloepiphyseal Dysplasia, Congenital
Spondyloepiphyseal Dysplasia Tarda
Sporadic Inclusion Body Myositis
Sporadic Porencephaly
Sprengel Deformity
Status Epilepticus
Stenosis, Spinal
Stevens Johnson Syndrome
Stickler Syndrome
Stiff Person Syndrome
Streptococcus, Group B
Sturge Weber Syndrome
Stuve-Wiedemann Syndrome
Subacute Sclerosing Panencephalitis
Succinic Semialdehyde Dehydrogenase Deficiency
Sudden Infant Death Syndrome
Sudden Unexplained Death in Childhood
Summitt Syndrome
Susac's Syndrome
Sutton Disease II
Sweet Syndrome
Swyer syndrome
Sydenham Chorea
Syphilis, Acquired
Syphilis, Congenital
Systemic Capillary Leak Syndrome
Tangier Disease
Tardive Dyskinesia
Tarlov Cysts
Tarsal Tunnel syndrome
Tay Sachs Disease
Temporomandibular Joint Dysfunction (TMJ)
Tethered Cord Syndrome
Tetrahydrobiopterin Deficiency
Tetralogy of Fallot
Thalamic Syndrome (Dejerine Roussy)
Thalassemia Major
Thalassemia Minor
Thoracic Outlet Syndrome
Three M Syndrome
Thrombocytopenia Absent Radius Syndrome
Thrombocytopenia, Essential
Thrombotic Thrombocytopenic Purpura
Thyroid Cancer
Tietze Syndrome
Timothy Syndrome
Tolosa Hunt Syndrome
Tongue Cancer
Tongue, Fissured
Tongue, Hairy
Tooth and Nail Syndrome
TORCH Syndrome
Tourette Syndrome
Townes Brocks Syndrome
Toxic Epidermal Necrolysis
Toxic Shock Syndrome
Transverse Myelitis
Treacher Collins Syndrome
Tricho Dento Osseous Syndrome
Trichorhinophalangeal Syndrome Type I
Trichorhinophalangeal Syndrome Type II
Trichorhinophalangeal Syndrome Type III
Trigeminal Neuralgia (Tic Douloureux)
Triosephosphate Isomerase Deficiency
Triploid Syndrome
Trismus Pseudocamptodactyly Syndrome
Trisomy 13 Syndrome
Trisomy 18 Syndrome
Trisomy X
Tropical Sprue
Truncus Arteriosus
Tuberous Sclerosis
Tumor Necrosis Factor Receptor-Associated Periodic Syndrome
Turcot Syndrome
Turner Syndrome
Twin-Twin Transfusion Syndrome
Typical Hemolytic Uremic Syndrome
Tyrosine Hydroxylase Deficiency
Tyrosinemia Type 1
Ulcerative Colitis
Urticaria, Cholinergic
Urticaria, Cold
Urticaria, Papular
Urticaria, Physical
Urticaria Pigmentosa
Usher Syndrome
Uterine Leiomyosarcoma
VACTERL Association
VACTERL with Hydrocephalus
Varicella Zoster
Vascular Malformations of the Brain
Vasculitis, Cutaneous
Ventricular Septal Defects
Vernal Keratonconjunctivitis
Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD)
Vitamin B12 Deficiency
Vogt-Koyanagi-Harada Disease
Von Hippel-Lindau Syndrome
Von Willebrand Disease
Waardenburg Syndrome
WAGR Syndrome/11p Deletion Syndrome
Waldenstr￶m's Macroglobulinemia
Walker Warburg Syndrome
Wandering Spleen
Warm Antibody Hemolytic Anemia
WAS Related Disorders
Weaver Syndrome
Wegener's Granulomatosis
Weill Marchesani syndrome
Weil Syndrome
Weismann Netter Stuhl Syndrome
Werdnig Hoffman Disease
Werner Syndrome
Wernicke-Korsakoff Syndrome
West Nile Encephalitis
West syndrome
Whipple Disease
Wieacker Syndrome
Wiedemann Rautenstrauch Syndrome
Wildervanck Syndrome
Williams Syndrome
Wilms' Tumor
Wilson's Disease
Winchester Syndrome
Wolff Parkinson White Syndrome
Wolf Hirschhorn Syndrome
Wolfram Syndrome
Wolman Disease
Wyburn Mason Syndrome
Xeroderma Pigmentosum
X linked Juvenile Retinoschisis
X linked Lymphoproliferative Syndrome
X-Linked Myopathy with Excessive Autophagy
X-linked Opitz G/BBB syndrome
XYY Syndrome
Yellow Fever
Yellow Nail syndrome
Yunis Varon Syndrome
Zellweger Spectrum Disorders
Zollinger Ellison syndrome

The list of rare human diseases is provided by the National Organization for Rare Disorders (NORD).


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