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CTGA Database Static?
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CTGA Database Static is a service of the Centre for Arab Genomic Studies derived from its CTGA Database on genetic disorders in Arab populations.
CTGA Database Static records are not searchable, but classified alphabetically according to index terms that allow easy access to information on various genetic disorders and related genes described in Arab individuals.
Records in CTGA Database Static are available in PDF format and could be viewed using Acrobat Reader ver. 5.0 or higher. Such files are easy to read, download, share, and print.
The current version of CTGA Database Static represents an image copy of the original CTGA Database as of December 2007.
CTGA Database Static will be updated once or twice every year. For this reason, users wishing to have the most updated information on genetic disorders and related genes in Arabs are advised to use the frequently updated CTGA Database.
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Mailing Address:
Centre for Arab Genomic Studies
P.O. Box 22252, Dubai
United Arab Emirates
Telephone: +971-4-398 6 777
Fax: +971-4-398 0 999
E-mail: cags@emirates.net.ae
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CTGA Database - Static
Disease Phenotypes
2 | 3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
- 21-@Hydroxylase Deficiency
- 3C Syndrome
- Abdominal Muscular Deficiency Syndrome
- Abetalipoproteinemia, Normotriglyceridemic, Steinberg Type
- Absence Defect of Limbs, Scalp, and Skull
- Absence of Abdominal Muscles with Urinary Tract Abnormality and Cryptorchidism
- Acanthocytosis with Hypobetalipoproteinemia
- Acetylator Phenotype
- Achondrogenesis, Brazilian
- Achondrogenesis, Type II, Formerly
- Achondroplasia
- Acrocephalopolysyndactyly Type II
- Acrocephalosyndactyly, Type I
- Acrocephalosyndactyly, Type II
- Acrocephalosyndactyly, Type III
- Acrocephaly, Skull Asymmetry, and Mild Syndactyly
- Acromesomelic Dysplasia, Grebe Type
- Acute Inflammatory Demyelinating Polyneuropathy
- Acyltransferase Deficiency
- Adams-Oliver Syndrome
- Addison Disease and Cerebral Sclerosis
- Adenomatous Polyposis Coli, Attenuated
- Adenomatous Polyposis of the Colon
- Adenomatous Polyposis, Familial
- Adrenal Hyperplasia III
- Adrenal Hyperplasia, Congenital, due to 21-Hydroxylase Deficiency
- Adrenoleukodystrophy
- Adrenomyeloneuropathy
- Aganglionic Megacolon
- Al Gazali Syndrome
- Alanine-Glyoxylate Aminotransferase Deficiency
- Albers-Schonberg Disease, Autosomal Recessive
- Albinism I
- Albinism, Oculocutaneous, Type IA
- Albright Syndrome
- Alkylglycerone Phosphate Synthase Deficiency
- Alpha-Galactosidase A Deficiency
- Alpha-Thalassemias
- Amelogenesis Imperfecta, Hypoplastic Type
- Amyloidosis, Familial Cutaneous
- Anderson-Fabry Disease
- Anencephaly
- Angioedema, Hereditary
- Angiokeratoma, Diffuse
- Angioneurotic Edema, Hereditary
- Anisospondylic Camptomicromelic Dwarfism
- Ankylosing Spondylitis
- Annular Pancreas
- Anophthalmia-Waardenburg Syndrome
- Anophthalmos with Limb Anomalies
- Anophthalmos-Limb Anomalies Syndrome
- Anophthalmos-Syndactyly
- Antiphospholipid Syndrome
- Aortic Arch Syndrome
- Apert Syndrome
- Apert-Crouzon Disease
- Apert-Like Polydactyly Syndrome
- Aplasia Cutis Autosomal Recessive
- Aplasia Cutis Congenita
- Aplasia Cutis Congenita Intestinal Lymphangiectasia
- Aplasia Cutis Congenita with Gastrointestinal Atresia
- Aplasia Cutis Congenita with Terminal Transverse Limb Defects
- Aplasia of Tibia with Ectrodactyly
- Apple Peel Small Bowel Syndrome
- Apple Peel Syndrome
- Aqueductal Stenosis, X-Linked
- Arthrogryposis Multiplex Congenita
- Arthrogryposis Multiplex Congenita, Distal, Type I
- Arthrogryposis Multiplex Congenita, Escobar Variant Form
- Arthrogryposis, Distal, Type 1
- Arthroophthalmopathy, Hereditary Progressive
- Asphyxiating Thoracic Dystrophy
- Asphyxiating Thoracic Dystrophy of the Newborn
- Ataxia-Telangiectasia Variant V1
- Ataxia-Telangiectasia Variant V2
- Athyreotic Hypothyroidism
- Atrial Septal Defect 1
- Atriodigital Dysplasia
- Auditory Neuropathy, Autosomal Recessive 1
- Auditory Neuropathy, Nonsyndromic Recessive
- Autism, Dementia, Ataxia, and Loss of Purposeful Hand Use
- Autonomic Control, Congenital Failure of
- Autosomal Recessive Deafness 9
- Bamatter-Franceschetti-Klein-Sierro Syndrome
- Bamatter's syndrome
- Bamboo Hair Syndrome
- Baraitser-Burn Syndrome
- Bardet-Biedl Syndrome
- Bartsocas-Papas Syndrome
- Bartter Syndrome, Classic
- Bartter Syndrome, Type 3
- BBS
- Bechterew Syndrome
- Behcet Syndrome
- Benign Familial Hematuria
- Benign Intracranial Hypertension
- Berardinelli Syndrome
- Berardinelli-Seip Congenital Lipodystrophy Type 2
- Berardinelli-Seip Congenital Lipodystrophy, Type 1
- Berlin Breakage Syndrome
- Beta-Thalassemias
- Bifid Nose, Renal Agenesis, and Anorectal Malformations
- Bilateral Coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs
- Bilateral Frontoparietal Polymicrogyria
- Bilirubin Uridinediphosphate Glucuronosyltransferase Deficiency
- Bitemporal Forceps Marks Syndrome
- Bladder Cancer
- Blepharophimosis, Epicanthus Inversus, and Ptosis 3
- Blepharophimosis, Ptosis, and Epicanthus Inversus
- Branched-Chain Ketoaciduria
- Branchial Clefts with Characteristic Facies, Growth Retardation, Imperforate Nasolacrimal Duct, and Premature Aging
- Branchiogenic-Deafness Syndrome
- Branchiooculofacial Syndrome
- Breast Cancer
- Breast Cancer, Type 2
- Brittle Bone Disease
- Bronspiegel Zelnick Syndrome
- Bronze Schilder Disease
- Brooke syndrome
- Brown-Vialetto-Van Laere Syndrome
- Brunzell Syndrome
- Brunzell Syndrome, AGPAT2-Related
- Brunzell Syndrome, BSCL2-Related
- Bulbar Palsy, Progressive, with Sensorineural Deafness
- Bullous Acrokeratotic Poikiloderma of Kindler and Weary
- Buphthalmos
- BVL Syndrome
- C1 Esterase Inhibitor, Deficiency of
- CA21H
- Caffey Disease
- Campomelic Dwarfism
- Campomelic Dysplasia
- Carbonic Anhydrase B
- Carbonic Anhydrase II
- Carbonic Anhydrase II Deficiency
- Carbonic Anhydrase II, Erythrocyte, Electrophoretic Variants of
- Cardioauditory Syndrome of Jervell and Lange-Nielsen
- Cardiofaciocutaneous Syndrome
- Carmi Syndrome
- Caroli Disease
- Carpenter Syndrome
- Cataract-Mental Retardation-Hypogonadism
- Catch 22
- Central Hypoventilation Syndrome, Congenital
- Ceramide Trihexosidase Deficiency
- Cerebellar Ataxia 1
- Cerebellar Ataxia with Neuronal Migration Defect
- Cerebellar Hypoplasia, Nonprogressive Norman Type
- Cerebellar Vermis Agenesis
- Cerebellooculorenal Syndrome 1
- Cerebellooculorenal Syndrome 2
- Cerebelloparenchymal Disorder III
- Cerebelloparenchymal Disorder IV
- Cerebrocostomandibular Syndrome
- Cerebroocular Dysgenesis
- Cerebroocular Dysplasia-Muscular Dystrophy Syndrome
- CF
- Charcot-Marie-Tooth Disease, Type 4B2
- Charcot-Marie-Tooth Disease, Type 4B2, with Early-Onset Glaucoma
- Chemke Syndrome
- Chondrodysplasia Punctata 2, X-Linked Dominant
- Chondrodysplasia Punctata Autosomal Dominant
- Chondrodysplasia Punctata, Rhizomelic Form
- Chondrodysplasia Punctata, Rhizomelic, due to
- Chondrodysplasia, Grebe Type
- Chondrodysplasia, Lethal Neonatal, with Snail-Like Pelvis
- Chondrodystrophia Calcificans Congenita
- Chondrodystrophia Calcificans Punctata
- Chondrodystrophic Myotonia
- Chondroectodermal Dysplasia
- Chotzen Syndrome
- Chronic Thyroiditis
- Cilialy Dyskinesia, Primary, 1
- Ciliary Dyskinesia, Primary
- CLA1
- Clasped Thumb and Mental Retardation
- Cleft Hand and Absent Tibia
- Cleft Lip and/or Palate with Mucous Cysts of Lower Lip
- Cleft Lip/Palate, Nonsyndromic
- Clefting-Ocular Anterior Chamber Defect-Lid Anomalies Syndrome
- CMT4B2
- Coagulation Factor X
- Coarctation of Aorta
- Cohen Syndrome
- Collodion Fetus
- Colon Cancer, Familial Nonpolyposis, Type 1
- Cone-Rod Dystrophy and Amelogenesis Imperfecta
- Congenital Adrenal Hyperplasia 1
- Congenital Aleukia
- Congenital Amegacaryocytic Thrombocytopenia
- Congenital Cerebellar Granular Cell Hypoplasia and Mental Retardation
- Congenital Duodenal Obstruction
- Congenital Enamel Hypoplasia
- Congenital Hepatic Fibrosis
- Congenital Immunodeficiency and Agranulocytosis
- Congenital Insensitivity to Pain with Anhidrosis
- Congenital Lipoatrophic Diabetes
- Congenital Muscular Dystrophy Merosin Negative
- Congenital Nephrotic Syndrome 1
- Congenital Pyloric Atresia
- Congenital Scalp Defects with Distal Limb Reduction Anomalies
- Congenital Sensory Neuropathy with Anhidrosis
- Conotruncal Anomaly Face Syndrome
- Conotruncal Heart Malformations
- Conradi-Hunermann Disease
- Conradi-Hunermann Syndrome
- Conradi-Hunermann-Happle Syndrome
- Cooley's Anemia
- Copper Transport Disease
- Costovertebral Dysplasia
- Costovertebral Segmentation Defect with Mesomelia
- Covesdem Syndrome
- CPD III
- Craniocerebellocardiac Dysplasia
- Craniosynostosis with Arachnodactyly and Abdominal Hernias
- Craniosynostosis with Lid Anomalies
- Crash Syndrome
- Crigler-Najjar Syndrome
- Crigler-Najjar Syndrome, Type I
- Crooked Fingers Syndrome
- CYP21 Deficiency
- Cystic Fibrosis
- Cystin Transport, Protein Defect of
- Cystinosin, Defect of
- Cystinosis, Infantile Nephropathic
- Cystinosis, Nephropathic
- D-2-hydroxyglutaricaciduria
- Dandy-Walker Malformation
- Dandy-Walker Syndrome
- Dandy-Walker-Like Malformation with Atrioventricular Septal Defect
- Dark Dot Disease
- de Vaal Disease
- Deafness with Goiter
- Deafness, Congenital, and Functional Heart Disease
- Dentoleukoencephalopathy
- Desbuquois Dysplasia
- Desbuquois Syndrome
- Desquamation of Newborn
- Diabetes Mellitus Type I
- Diabetes Mellitus Type II
- Diaphragmatic Hernia 1
- Diaphragmatic Hernia, Abnormal Face, and Distal Limb Anomalies
- Diffuse Globoid Body Sclerosis
- DiGeorge Syndrome
- Dihydrolipoamide Dehydrogenase Deficiency
- Dihydroxyacetonephosphate
- Dihydroxyacetonephosphate Acyltransferase Deficiency
- Distal Tubular Acidosis Renal Autosomal Recessive
- Donohue Syndrome
- Double-Outlet Right Ventricle
- Dowling-Degos Disease
- Dowling-Degos-Kitamura Disease
- Down Syndrome
- Duodenal Atresia
- Duodenal Stenosis
- Dyggve-Melchior-Clausen Disease
- Dysencephalia Splanchnocystica
- Dyskeratosis Congenita, X-linked
- Dysprothrombinemia
- Dyssegmental Dwarfism
- Dyssegmental Dysplasia
- Dyssegmental Dysplasia, Silverman-Handmaker Type
- Dystopic Lipidosis, Hereditary
- Dystrophia Myotonica 1
- Eagle-Barrett Syndrome
- Ectodermal Dysplasia, Anhidrotic
- Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
- Ectrodactyly with Aplasia of Long Bones
- Ellis-Van Creveld Syndrome
- Enuresis 1
- Epidermolysis Bullosa Junctionalis, Disentis Type
- Epidermolysis Bullosa Junctionalis, Progressive
- Epidermolysis Bullosa Junctionalis, Severe Nonlethal
- Epidermolysis Bullosa Letalis
- Epidermolysis Bullosa with Pyloric Atresia
- Epidermolysis Bullosa, Generalized Atrophic Benign
- Epidermolysis Bullosa, Junctional, Herlitz Type
- Epidermolysis Bullosa, Junctional, Herlitz-Pearson Type
- Epidermolysis Bullosa, Junctional, Localisata Variant
- Epiligrin
- Epiphyseal Dysplasia, Multiple, with Early-Onset Diabetes Mellitus
- Epithelioma Adenoides Cysticum of Brooke
- Epithelioma, Hereditary Multiple Benign Cystic
- Erythremia, Alpha-Globin Type
- Erythremia, Beta-Globin Type
- Erythrokeratodermia Figurata, Congenital Familial, in Plaques
- Erythrokeratodermia Variabilis
- Escobar Syndrome, Type B
- Esophageal Atresia with or without Tracheoesophageal Fistula
- Essential Hypertension
- Estren-Dameshek Variant of Fancomi Anemia
- Estren-Dameshek Variant of Fanconi Pancytopenia
- Estren-Dameshek Variant of Fanconi Pancytopenia Type 1
- Excess Lymphocyte Low Molecular Weight DNA
- Exudative Retinopathy with Bone Marrow Failure
- Fabry Disease
- Facial Ectodermal Dysplasia
- Facial Palsy, Partial, with Urinary Abnormalities
- Factor X Deficiency
- Fadhil Syndrome
- Familial Dysautonomia, Type II
- Familial Intestinal Polyatresia Syndrome
- Familial Mediterranean Fever
- Familial Nonmedullary Thyroid Cancer
- Fancomi Anemia, Estren-Dameshek Variant
- Fanconi Anemia
- Fanconi Anemia, Complementation Group C
- Fanconi Pancytopenia, Type 3
- Female Genital Ducts in otherwise Normal Male
- Fetal Ovarian Cyst
- Fibrochondrogenesis
- Fibrodysplasia Ossificans Progressiva
- Fibromatosis, Juvenile Hyaline
- Finnish Congenital Nephrosis
- Focal Dermal Hypoplasia
- Focal Facial Dermal Dysplasia, Type II
- Folling Disease
- Formerly PKD3
- Frontofacionasal Dysostosis
- Frontofacionasal Dysplasia
- Frontonasal Dysplasia
- Fryns Syndrome
- Furlong Syndrome
- G6PD
- Galactocerebrosidase Deficiency
- Galactose Epimerase Deficiency
- Galactose-1-Phosphate Uridylyltransferase Deficiency
- Galactosemia III
- Galactosemia, Classic
- Galactosylceramide Beta-Galactosidase Deficiency
- Galactosylceramide Lipidosis
- Galactosylsphingosine Lipidosis
- GALE Deficiency
- Galli-Galli Disease
- Galt Deficiency
- Gardner Syndrome
- Gareis-Mason Syndrome
- Gaucher Disease, Acute Neuronopathic Type
- Gaucher Disease, Infantile Cerebral
- Gaucher Disease, Type II
- Geroderma Osteodysplastica
- Gerodermia Osteodysplastica
- Gitelman Syndrome
- Glass Bone Disease
- Glaucoma 1, Open Angle, A
- Glaucoma 3, Primary Infantile, A
- Glaucoma, Congenital
- Glaucoma, Hereditary Juvenile
- Glaucoma, Primary Open Angle, Juvenile-Onset, 1
- GLC1A
- GLC3A
- Globoid Cell Leukodystrophy
- Globoid Cell Leukoencephalopathy
- Glucocorticoid Deficiency 2
- Glucose-6-Phosphate Dehydrogenase
- Glyceronephosphate O-Acyltransferase Deficiency
- Glycolic Aciduria
- Goiter-Deafness Syndrome
- Goldberg-Shprintzen Syndrome
- Goltz-Gorlin Syndrome
- Gray Platelet Syndrome
- Grebe Chondrodysplasia
- Grebe Dysplasia
- Greither Disease
- Gruber Syndrome
- Guibaud-Vainsel Syndrome
- Guillain-Barre Syndrome, Familial
- Gunther Disease
- Haddad Syndrome
- Halo Nevi
- Happle Syndrome
- Hashimoto Struma
- Hashimoto Thyroiditis
- Hashitoxic Periodic Paralysis
- Heart-Hand syndrome
- Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
- Hematopoietic Hypoplasia, Generalized
- Hemoglobin SS Disease
- Hemolytic-Uremic Syndrome
- Hemolytic-Uremic Syndrome
- Hennekam Lymphangiectasia-Lymphedema Syndrome
- Hennekam Syndrome
- Hepatic AGT Deficiency
- Hepatolenticular Degeneration
- Hereditary Multiple Intestinal Atresia
- Hereditary Nonpolyposis Colorectal Cancer, Type 1
- Hereditary Sensory and Autonomic Neuropathy IV
- Herlitz-Pearson Type Epidermolysis Bullosa
- Hernia Uteri Inguinale
- Hirschsprung Disease
- Hirschsprung Disease Syndrome
- Hirschsprung Disease with Pigmentary Anomaly
- Hirschsprung Disease-Mental Retardation Syndrome
- Holt-Oram Syndrome
- Hughe's Syndrome
- Huntington Disease
- HUS
- Hutchinson-Gilford Progeria Syndrome
- Hyalinosis, Systemic Juvenile
- Hydrocephalus
- Hydrocephalus due to Congenital Stenosis of Aqueduct of Sylvius
- Hydrocephalus, Agyria, and Retinal Dysplasia
- Hydrocephalus, X-Linked
- Hydrocephaly
- Hydronephrosis Congenital
- Hydronephrosis with Peculiar Facial Expression
- Hyperandrogenism, Nonclassic Type, Due To 21-Hydroxylase Deficiency
- Hyperdontia
- Hyper-IgD Syndrome
- Hyperimmunoglobinemia D with Recurrent Fever
- Hyperimmunoglobulinemia D and Periodic Fever Syndrome
- Hyperimmunoglobulinemia D Syndrome
- Hyperimmunoglobulinemia D with Periodic Fever
- Hyperoxaluria, Primary, Type I
- Hyperphenylalaninemia, Mild
- Hyperprothrombinemia
- Hypertrophic Osteoarthropathy, Primary or Idiopathic
- Hypobetalipoproteinemia, Familial
- Hypobetalipoproteinemia, Normotriglyceridemic
- Hypochondroplasia
- Hypomagnesemia-Hypokalemia, Primary Renotubular, with Hypocalciuria
- Hypoplasia of Thymus and Parathyroids
- Hypoprothrombinemia
- Hypothyroidism, Athyreotic
- Hypothyroidism, Autoimmune
- Hypothyroidism, Congenital, due to Dyshormonogenesis, 2B
- Hypothyroidism, Congenital, due to Thyroid Dysgenesis
- Hypothyroidism, Congenital, Nongoitrous, 2
- Hypotonia Obesity and Prominent Incisors
- I-Cell Disease
- Ichthyosiform Erythroderma, BROCQ Congenital, Nonbullous Form
- Ichthyosiform Erythroderma, Congenital, Nonbullous, 1
- Ichthyosis Congenita
- Ichthyosis Congenita II
- Ichthyosis Congenita III
- Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
- Ichthyosis, Follicular Atrophoderma, Hypotrichosis, and Hypohidrosis
- Ichthyosis, Lamellar, 1
- IDDM
- IFAP Syndrome
- Immotile Cilia Syndrome
- Immotile Cilia Syndrome 1
- Immunodeficiency, Microcephaly, and Chromosomal Instability
- Infantile Bartter Syndrome with Sensorineural Deafness
- Infantile Cortical Hyperostosis
- Infantile Polycystic Kidney Disease Type 1
- INH Inactivation
- Insensitivity to Pain, Congenital, with Anhidrosis
- Insulin Receptor, Defect in
- Insulin-Dependent Diabetes Mellitus
- Intestinal Atresia, Multiple
- Intestinal Lymphagiectasia-Lymphedema-Mental Retardation Syndrome
- Intracranial Hypertension, Idiopathic
- Inverted Smile and Occult Neuropathic Bladder
- Isoniazid Inactivation
- Jarcho-Levin Syndrome
- Jeep Rider's Disease
- Jejunal Atresia
- Jervell and Lange-Nielsen Syndrome
- Jeune Syndrome
- JOAG1
- Joubert Syndrome
- Joubert Syndrome 1
- Joubert-Boltshauser Syndrome
- Juvenile-Onset Diabetes
- Keratoderma Palmoplantaris Transgrediens
- Keratosis Palmoplantaris Transgradiens of Siemens
- Keratosis Palmoplantaris Transgrediens et Progrediens
- Keto Acid Decarboxylase Deficiency
- Kindler Syndrome
- Kinky Hair Disease
- Kitamura Reticulate Acropigmentation
- Klippel-Feil Syndrome
- Krabbe Disease
- Krabbe Leukodystrophy
- Kugelberg-Welander Syndrome
- L-2-Hydroxyglutaric Acidemia
- L-2-Hydroxyglutaric Aciduria
- L-2-Hydroxyglutaricacidemia
- L-2-hydroxyglutaricaciduria
- Lactic Acidosis, Congenital Infantile, due to LAD Deficiency
- Lamellar Exfoliation of Newborn
- Lamellar Ichthyosis
- Lamellar Ichthyosis 3
- Lamellar Ichthyosis 5
- Lamellar Ichthyosis, Type 1
- Larsen Syndrome Autosomal Dominant
- Larsen Syndrome, Recessive
- Late-Onset Krabbe Disease
- Laurence-Moon Syndrome
- Laurence-Moon-Biedl-Bardet syndrome
- Lee Root Fenske Syndrome
- Leprechaunism
- Lethal Anisospondylic Camptomicromelic Dwarfism
- Leukodystrophy with Oligodontia
- Lip Pseudocleft-Hemangiomatous Branchial Cyst Syndrome
- Lipoamide Dehydrogenase Deficiency, Lactic Acidosis due to
- Lipodystrophy, Berardinelli-Seip Congenital Type 2
- Lipodystrophy, Berardinelli-Seip Congenital, Type 1
- Lipodystrophy, Congenital Generalized Type 1
- Lipodystrophy, Congenital Generalized Type 2
- Lipodystrophy, Total, and Acromegaloid Gigantism
- Lip-Pit Syndrome
- Lissencephaly I
- Lobstein Disease
- Lujan-Fryns Syndrome
- Lupus Anticoagulant, Familial
- Lymphangiectasies Lymphoedema Type Hennekam Type
- Lynch Cancer Family Syndrome II
- Lynch Syndrome I
- Lysosomal Cystine Transport Protein, Defect of
- Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies
- Mal de Meleda
- Male Turner Syndrome
- Malignant Tumors of the Central Nervous System Associated with Familial Polyposis of the Colon
- Maple Syrup Urine Disease
- Marble Bones, Autosomal Recessive
- Marble Brain Disease
- Marfanoid Craniosynostosis Syndrome
- Marfanoid Disorder with Craniosynostosis, Type I
- Marfanoid Disorder with Craniosynostosis, Type II
- Marie-Strumpell Spondylitis
- Martsolf Syndrome
- MASA Syndrome
- Maturity-Onset Diabetes
- McCune-Albright Syndrome
- McDonough Syndrome
- Meckel Syndrome
- Meckel Syndrome, Type 1
- Meckel Syndrome, Type 2
- Meckel-Gruber Syndrome
- Median Facial Cleft Syndrome
- Megarbane-Loiselet Syndrome
- Melanodermic Leukodystrophy
- Meleda Disease
- Membranoproliferative Glomerulonephritis
- Mendes da Costa syndrome
- Menkea Syndrome
- Menkes Disease
- Mental Retardation, Aphasia, Shuffling Gait, and Adducted Thumbs
- Mental Retardation-Retinopathy-Microcephaly Syndrome
- Mesangiocapillary Glomerulonephritis, X-Linked
- Mesodermal Dysmorphodystrophy, Congenital
- Mesoectodermal Dysplasia
- Metaphyseal Chondrodysplasia, Congenital Lethal
- Methemoglobinemia, Alpha-Globin Type
- Methemoglobinemia, Beta-Globin Type
- Mevalonate Kinase
- Mevalonate Kinase Deficiency
- Mevalonic Aciduria
- Mevalonicaciduria
- Michels Syndrome
- Micro Syndrome
- Microcephaly- Mental Retardation- Cataracthypogonadism Syndrome
- Microcephaly with Normal Intelligence, Immunodeficiency, and Lymphoreticular Malignancies
- Microcephaly, Mental Retardation, and Distinct Facial Features, with or without Hirschsprung Disease
- Microcephaly-Mental Retardation-Retinopathy Syndrome
- Microdeletion 22q11
- Microdontia, Generalized
- Microgastria-Limb Reduction Defects Association
- Micromelic Dwarfism with Vetebral and Metaphyseal Abnormalities and Advanced Carpotarsal Ossification
- Mirhosseini-Holmes-Walton Syndrome
- Mohr-Majewski Syndrome
- Molluscum Fibrosum
- Mowat-Wilson Syndrome
- Moya Moya Disease
- Moyamoya Disease 1
- Mucolipidosis II
- Mucolipidosis III
- Mucolipidosis IIIA
- Mucolipidosis IIIA, Atypical
- Mucopolysaccharidosis Type IIIB
- Mucoviscidosis
- Mullerian Derivatives, Persistent
- Multicystic Renal Dysplasia, Bilateral
- Multiple Familial Trichoepithelioma
- Multiple Skeletal Abnormalities with Anterior Segment Anomalies of the Eye and Early Lethality
- Murray-Puretic Syndrome
- Muscular Atrophy, Infantile
- Muscular Atrophy, Juvenile
- Muscular Atrophy, Spinal, Infantile Chronic Form
- Muscular Atrophy, Spinal, Intermediate Type
- Muscular Dystrophy, Congenital with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers
- Muscular Dystrophy, Congenital, 1B
- Muscular Dystrophy, Congenital, Associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
- Muscular Dystrophy, Congenital, plus Mental Retardation
- Myasthenia Gravis
- Myopathy, Early-Onset, with Progeroid Features
- Myotonic Chondrodystrophy
- Myotonic Dystrophy 1
- Myotonic Myopathy, Dwarfism, Chondrodystrophy, and Ocular and Facial Abnormalities
- Nablus Mask-Like Facial Syndrome
- N-Acetyl-Alpha-D-Glucosaminidase Deficiency
- N-Acetyl-Alpha-D-Glucosaminidase Polymorphism
- N-Acetylglucosaminidase, Alpha-
- N-Acetyltransferase Polymorphism
- Neonatal Ovarian Cyst
- Neonatal Pseudo-Hydrocephalic Progeroid Syndrome of Wiedemann-Rautenstrauch
- Nephroblastoma
- Nephronophthisis 1
- Nephronophthisis 2
- Nephronophthisis, Familial Juvenile
- Nephronophthisis, Infantile
- Nephrosis 1, Congenital, Finnish Type
- Nephrosis, Congenital
- Netherton Disease
- Netherton Syndrome
- Neural Tube Defect, Folate-Sensitive
- Neurofibromatosis, Type I
- Neurofibromin
- Neuropathy, Congenital Sensory, with Anhidrosis
- Neurosensory Nonsyndromic Recessive Deafness 9
- NF1 Microdeletion Syndrome
- Nijmegen Breakage Syndrome
- Nocturnal Enuresis 1
- Nonbullous Congenital Ichthyosiform Erythroderma 1
- Noninsulin-Dependent Diabetes Mellitus
- Nonmedullary Thyroid Carcinoma
- Nonsyndromal Microcephaly, Autosomal Recessive, with Normal Intelligence
- Noonan Syndrome 1
- Ochoa Syndrome
- Oculocutaneous Albinism, Type I
- Oculocutaneous Albinism, Tyrosinase-Negative
- Oculopalatoskeletal Syndrome
- Odontoonychodermal Dysplasia
- OFD Syndrome with Tibial Defects
- OFD Syndrome, Baraitser-Burn Type
- Oligophrenia Phenylpyruvica
- Omphalocele
- Ondine Curse, Congenital
- Ondine-Hirschsprung Disease
- Ophthalmoacromelic Syndrome
- Optic Nerve Coloboma with Renal Disease
- Oral-Facial-Digital syndrome Type VI
- Oral-Facial-Digital Syndrome, Type I
- Oral-Facial-Digital Syndrome, Type IV
- Orofacial Cleft 1
- Orofaciodigital Syndrome I
- Orofaciodigital Syndrome IV
- Orofaciodigital Syndrome VI
- Osteogenesis Imperfecta Congenita
- Osteogenesis Imperfecta Tarda
- Osteogenesis Imperfecta, Progressively Deforming, with Normal Sclerae
- Osteogenesis Imperfecta, Type I
- Osteogenesis Imperfecta, Type III
- Osteopetrosis with Renal Tubular Acidosis
- Osteopetrosis, Autosomal Recessive
- Osteopetrosis, Malignant
- Osteoplastic Geroderma Walt Disney Dwarfism
- Osteosclerotic Bone Dysplasia, Lethal
- Ovarian Cancer, Familial
- Ovarian Tumor
- Oxalosis I
- Pachydermoperiostosis
- Pagon Syndrome
- Papillary Carcinoma of Thyroid
- Papillon-League-Psaume Syndrome
- Papillorenal Syndrome
- Pelviureteric Junction Obstruction
- Pemphigus Vulgaris, Familial
- Pendred Syndrome
- Pepper Syndrome
- Periodic Fever, Dutch Type
- Peritoneal Ovarian Carcinomatosis
- Peroxisomal Alanine:Glyoxylate Aminotransferase Deficiency
- Peroxisomal Dihydroxyacetonephosphate Acyltransferase Deficiency
- Persistent Mullerian Duct Syndrome, Types I and II
- Persistent Oviduct Syndrome
- Phenylalanine Hydroxylase Deficiency
- Phenylketonuria
- Pigmentary Disorder, Reticulate, With Systemic Manifestations
- Pilonidal Sinus
- Platelet Alpha-Granule Deficiency
- Poikiloderma, Hereditary Acrokeratotic
- Poker Back
- Polycystic Kidney and Hepatic Disease 1
- Polycystic Kidney Disease Autosomal Recessive
- Polycystic Kidney Disease, Infantile, Type I
- Polydactyly With Neonatal Chondrodystrophy, Type III
- Polydactyly, Cleft Lip/Palate or Lingual Lump and Psychomotor Retardation
- Polymicrogyria, Bilateral Perisylvian
- Polynesian Bronchiectasis
- Polyostotic Fibrous Dysplasia
- Polyposis of the Colon, Familial
- Polyposis, Adenomatous Intestinal
- Polyserositis, Familial Paroxysmal
- Polyserositis, Recurrent
- Pontobulbar Palsy with Deafness
- Popliteal Pterygium Syndrome, Lethal Type
- Porphyria, Congenital Erythropoietic
- Posterior Choanal Atresia
- Potassium and Magnesium Depletion
- Potter Disease Type 1
- Pre-B-Cell Acute Lymphoblastic Leukemia
- Premature Senility Syndrome
- Prenatal Cortical Hyperostosis, Lethal
- Primary Ciliary Dyskinesia
- Primary Hypertension
- Progeria
- Progeroid Syndrome, Neonatal
- Prolonged QT Interval in EKG and Sudden Death
- Prune Belly Syndrome
- Pseudohermaphroditism, Male Internal
- Pseudo-Hurler Polydystrophy
- Pseudo-Morquio Type II Syndrome
- Pseudotumor Cerebri
- Pseudo-Turner Syndrome
- Psychosine Lipidosis
- Pterygium Colli Syndrome
- Pterygium Popliteal Lethal Type
- Pulmonary Hypertension, Primary
- Pulmonary Hypoplasia
- Pulseless Disease
- Puretic Syndrome
- Pyloric Atresia
- Raine Syndrome
- Rautenstrauch-Wiedemann Syndrome
- Rautenstrauch-Wiedemann Type Neonatal Progeria
- Renal Tubular Acidosis I
- Renal Tubular Acidosis, Autosomal Recessive, with Progressive Nerve Deafness
- Renal Tubular Acidosis, Distal, Autosomal Dominant
- Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
- Renal-Coloboma Syndrome
- Renal-Hepatic-Pancreatic Dysplasia
- Resistance to Thyrotropin
- Restrictive Cardiomyopathy 1, Familial
- Reticular Dysgenesia
- Reticular Dysgenesis
- Reticular Pigmented Anomaly of Flexures
- Reticulate Acropigmentation of Kitamura
- Retinal Pigmentary Degeneration-Microcephaly-Mental Retardation Syndrome
- Retinopathy anemia CNS anomalies
- Retinopathy, Pigmentary, and Mental Retardation
- Retinopathy-Mental Retardation Syndrome
- Rett Syndrome
- Reverse Coarction
- Revesz Debuse syndrome
- Revesz Syndrome
- Rheumatoid Spondylitis
- Rhizomelic Chondrodysplasia Punctata, Type 1
- Rhizomelic Chondrodysplasia Punctata, Type 2
- Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa
- Rib Gap Defects with Micrognathia
- Ritscher-Schinzel Syndrome
- Robinow Syndrome, Autosomal Recessive
- Rolland-Desbuquois Syndrome
- Russell Syndrome
- Russell-Silver Dwarfism
- Russell-Silver Syndrome
- Saethre-Chotzen Syndrome
- Saethre-Chotzen Syndrome with Eyelid Anomalies
- Sanfilippo Syndrome B
- Scalp Defect, Congenital
- Schartz-Jampel Syndrome
- Schartz-Jampel-Aberfelt Syndrome
- Schneckenbecken Dysplasia
- Schwartz-Jampel Syndrome Neonatal
- Schwartz-Jampel Syndrome Type 2
- Schwartz-Jampel Syndrome Type I
- Sedaghatian Chondrodysplasia
- Seemanova Syndrome II
- Segmentation Syndrome 1
- Seip Syndrome
- Self-Healing Collodion Baby
- Serine:Pyruvate Aminotransferase Deficiency
- Setleis Syndrome
- Severe Combined Immunodeficiency with Leukopenia
- Shah-Waardenburg Syndrome
- SHFLD
- SHFLD1
- Short Rib-Polydactyly Syndrome, Type III
- Shprintzen-Goldberg Craniosynostosis Syndrome
- Sickle Cell Anemia
- Siemerling-Creutzfeldt Disease
- Silverman-Handmaker Type of Dyssegmental Dysplasia
- Silver-Russell Dwarfism
- Silver-Russell Syndrome
- Spastic Paraplegia Type 1
- Spherophakia-Brachymorphia Syndrome
- Spinal Muscular Atrophy, Mild Childhood and Adolescent Form
- Spinal Muscular Atrophy, Type I
- Spinal Muscular Atrophy, Type II
- Spinal Muscular Atrophy, Type III
- Split-Hand/Foot Malformation with Long Bone Deficiency
- Split-Hand/Foot Malformation with Long Bone Deficiency 1
- Spondylocostal Dysostosis, Autosomal Recessive 1
- Spondyloepimetaphyseal Dysplasia with Multiple Dislocations
- Spondyloepimetaphyseal Dysplasia, Maroteaux Type
- Spondyloepiphyseal Dysplasia, Maroteaux Type
- Spondylometaepiphyseal Dysplasia, Short Limb-Abnormal Calcification Type
- Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
- Spondylometaphyseal Dysplasia, Sedaghatian Type
- Spondylothoracic Dysostosis
- Spondylothoracic Dysplasia
- Spontaneous Occlusion of the Circle of Willis
- Steely Hair Disease
- Steinert Myotonic Dystrophy
- Stickler Syndrome, Type I
- Strabismus, Susceptibility to
- Stuart-Prower Factor Deficiency
- Sturge-Weber Syndrome
- Stuve-Wiedemann Syndrome
- Subcortical Band Heterotopia
- Subcortical Laminar Heterotopia
- Supernumerary Teeth
- Surdo-Cardiac Syndrome
- Susceptibility to Insulin Resistance
- Syndactyly-Anophthalmos Syndrome
- Systemic Lupus Erythematosus
- Takao VCF Syndrome
- Takayasu Arteritis
- Tetra-Amelia, Autosomal Recessive
- Tetralogy of Fallot
- Thanatophoric Dwarfism
- Thanatophoric Dysplasia
- Thin Membrane Nephropathy
- Thin-Basement-Membrane Nephropathy
- Third and Fourth Pharyngeal Pouch Syndrome
- Thoracic-Pelvic-Phalangeal Dystrophy
- Thrombophilia
- Thyroid Agenesis
- Thyroid Autoantibodies
- Thyroid Carcinoma, Papillary
- Thyroid Dysgenesis
- Thyroid Hormone Organification Defect IIB
- Thyroid Hormonogenesis, Genetic Defect In, 2B
- Thyroid Hypoplasia
- Thyroid, Ectopic
- Thyrotoxic Periodic Paralysis
- Thyrotropin Resistance
- Tibial Aplasia with Split-Hand/Split-Foot Deformity
- Total Intestinal Aganglionosis
- Tracheoesophageal Fistula with or without Esophageal Atresia
- Transient Myeloproliferative Disorder of Down Syndrome
- Triad Syndrome
- Trichorrhexis Invaginata
- Trisomy 21
- Truncus Arteriosus Communis
- Turcot Syndrome
- UDP-Galactose-4-Epimerase Deficiency
- Ureterovesical Stenosis
- Urofacial Syndrome
- Uroporphyrinogen III Synthase, Deficiency of
- VACTERL Association
- Van der Woude Syndrome
- Varadi-Papp Syndrome
- VATER Association
- Velocardiofacial Syndrome
- Venous Thromboembolism
- Ventriculomegaly
- Verma-Naumoff Syndrome
- Vertebral Anomalies
- Vesicoureteral Reflux
- Vitiligo
- Von Hippel-Lindau Syndrome
- von Recklinghausen Disease
- Vrolik Type of Osteogenesis Imperfecta
- Waardenburg Anophthalmia Syndrome
- Waardenburg Recessive Anophthalmia Syndrome
- Waardenburg Syndrome Variant
- Waardenburg Syndrome, Type IV
- Waardenburg-Hirschsprung Disease
- Waardenburg-Shah Syndrome
- Walker-Warburg Syndrome
- Walt Disney Dwarfism
- WARBM
- Warburg Micro Syndrome
- Warburg Sjo Fledelius Syndrome
- Warburg Syndrome
- Weill-Marchesani Syndrome, Autosomal Recessive
- Werdnig-Hoffmann Disease
- Werner Syndrome
- Wiedemann-Rautenstrauch Syndrome
- Wilms Tumor 1
- Wilson Disease
- Wohlfart-Kugelberg-Welander disease
- Wolcott-Rallison Syndrome
- Wrinkly Skin Syndrome
- Xeroderma Pigmentosum I
- Xeroderma Pigmentosum III
- Xeroderma Pigmentosum, Complementation Group A
- Xeroderma Pigmentosum, Complementation Group C
- X-Linked Mental Retardation, with Marfanoid Habitus
- Young Female Arteritis
- Zinsser-Cole-Engman Syndrome
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Gene Loci
1 | 2 | 5 | 7 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
- 1-@-Acylglycerol-3-Phosphate O-Acyltransferase 2
- 21-@Hydroxylase B
- 5,10-@Methylenetetrahydrofolate Reductase
- 7-@ Transmembrane Protein with no EGF-Like N-Terminal Domains 1
- A Disintegrin-Like and Metalloproteinase with Thrombospondin Type 1 Motif, 10
- Abacavir Hypersensitivity, Susceptibility to
- ABC35
- ABCC7
- ACE
- Acyl-CoA:Dihydroxyacetonephosphate Acyltransferase
- ADAMTS10
- Adrenoleukodystrophy Protein
- Alpha-Galactosidase A
- Alpha-Globin Locus, Second
- Angiotensin
- Angiotensin I-Converting Enzyme
- Angiotensinogen
- Apolipoprotein A-I
- Apolipoprotein B
- Apolipoprotein of High Density Lipoprotein
- ARS Component B-81/s Precursor
- Arylamide Acetylase 2
- Arylamine N-Acetyltransferase 2
- ATPase, H+ Transporting, Lysosomal, V0 Subunit A, Isoform 4
- ATP-Binding Cassette, Subfamily C, Member 7
- ATP-Binding Cassette, Subfamily D, Member 1
- Atrial Natriuretic Factor
- Atriopeptin
- Baculoviral IAP Repeat-Containing Protein 1
- Barttin
- BBS10 Gene
- Breast Cancer 1 Gene
- Breast Cancer 2 Gene
- BSCL2 Gene
- BSCL2 Gene
- BSND Gene
- Bullous Pemphigoid Antigen 2
- C12ORF58
- Cachectin
- cAMP-Dependent Chloride Channel
- Cardionatrin
- Cartilage-Derived Morphogenetic Protein 1
- CD117
- CD44 Antigen
- CDK4 Inhibitor
- CDK4B Inhibitor
- CDKN2A
- CDKN2B
- Cell Adhesion Molecule L1
- CFTR
- Chloride Channel, Kidney, B
- Chromosome 12 Open Reading Frame 58
- Chromosome 20 Open Reading Frame 42
- Coagulation Factor II
- COH1 Gene
- Collagen, Type XVII, Alpha-1
- Complement Factor H
- Connexin 26
- CXB2_Human
- Cyclin-Dependent Kinase Inhibitor 2A
- Cyclin-Dependent Kinase Inhibitor 2B
- CYP21
- CYP21A1P
- CYP21A2
- CYP21B
- Cystic Fibrosis Transmembrane Conductance Regulator
- Cytochrome P450, Subfamily XXI
- Cytochrome P450, Subfamily XXIA, Polypeptide 2
- DCP1
- DFNA3
- DFNB1
- Dihydroxyacetonephosphate Acyltransferase
- Dipeptidyl Carboxypeptidase 1
- DNA Helicase, RECQ-Like, Type 3
- Dymeclin
- Dyskerin
- EIF2AK3
- Endothelin Receptor, Type B
- Eukaryotic Translation Initiation Factor 2-Alpha Kinase 3
- Factor II
- Familial Mediterranean Fever Gene
- FANCA Gene
- FANCC GENE
- FANCG Gene
- Fanconi Anemia Complementation Group A Gene
- Fanconi Anemia Complementation Group G
- Fibroblast Growth Factor Receptor 3
- FLJ23560
- G Protein-Coupled Receptor 56
- Galactocerebrosidase
- Galactosidase, Alpha
- Galactosylceramidase
- Gap Junction Protein, 26-KD
- Gap Junction Protein, Beta-2
- GJB2
- Glyceronephosphate O-Acyltransferase
- GNG3LG, Mouse, Homolog of
- GPR56
- Growth/Differentiation Factor 5
- Guanine Nucleotide-Binding Protein, Beta-3
- Hemoglobin - Alpha Locus 1
- Hemoglobin - Alpha Locus 2
- Hemoglobin - Beta Locus
- Hemoglobin - Gamma G
- Hermes Antigen
- HLA-B Histocompatibility Type
- HLA-DR Histocompatibility Type
- Huntingtin
- INLU-Related P80 Glycoprotein
- Interferon-Induced Protein 41
- Interferon-Induced Protein 75
- KIAA1766
- Kindlin 1
- Kininase II
- KIT Oncogene
- L1 Cell Adhesion Molecule
- Leukemia Inhibitory Factor Receptor
- Lipopolysaccharide-Associated Protein 4
- Lysophosphatidic Acid Acyltransferase-Beta
- Lysosomal Transporting ATPase, H+, 56/58-Kd, V1 Subunit B, Isoform 1
- Major Histocompatibility Complex, Class I, B
- Major Histocompatibility Complex, Class II, DR Alpha
- Marenostrin
- Mast Cell Growth Factor Receptor
- MDU3
- MEFV
- MRP7
- MTHFR
- MTMR13
- Multiple Tumor Suppressor 1
- Multiple Tumor Suppressor 2
- Myotubularin-Related 13
- Natriuretic Peptide Precursor A
- Neural Cell Adhesion Molecule L1
- Neuronal Apoptosis Inhibitory Protein
- Neurotrophic Tyrosine Kinase, Receptor, Type 1
- Neurotrophic Tyrosine Kinase, Receptor-Related 2
- NSRD1
- Nuclear Body Protein SP110
- OCRL Gene
- Otoancorin
- Otoferlin
- p14(ARF)
- p15(INK4B)
- p16(INK4A)
- P450c21
- PDS Gene
- Pendrin
- Pgp1
- Phenol/Bilirubin UDP-Glucuronosyltransferase
- PK1
- PKL
- PKLR
- PKR
- Pronatriodilatin
- Protein S, Alpha
- Protein S, Beta
- Prothrombin
- Pyrin
- Pyruvate Kinase 1
- Pyruvate Kinase, Liver and Red Blood Cell
- Rearranged during Transfection Protooncogene
- Receptor Tyrosine Kinase-Like Orphan Receptor 2
- RECQ Protein-Like 2
- Renin
- RET Protooncogene
- SBF2
- Secreted Ly6/UPAR-Related Protein 1
- Seipin
- Seipin
- Set-Binding Factor 2
- Sex-Determining Region Y
- Smad-Interacting Protein 1
- Solute Carrier Family 26, Member 4
- Speckled, 110-KD
- Stem Cell Factor Receptor
- Steroid Cytochrome P450 21-Hydroxylase
- Suppressor of Tumorigenicity 8
- Survival of Motor Neuron 1, Telomeric
- Testis-Determining Factor
- Thrombin
- Transglutaminase 1
- Transglutaminase, Epidermal Type I
- Transglutaminase, Keratinocyte
- Transmembrane Protease, Serine 3
- Tumor Necrosis Factor
- Tyrosinase
- Tyrosine Kinase Receptor A
- UDP-Glycosyltransferase 1 Family, Polypeptide A1
- UNC112-related protein 1
- Uridine Diphosphate Glucuronosyltransferase, Bilirubin/Phenol
- Vacuolar Protein Pump, Subunit 2
- Vacuolar Protein Sorting 13, Yeast, Homolog of, B
- Vacuolar Proton Pump, Subunit 3
- V-KIT Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog
- WRN Gene
- XPA Gene
- XPC Gene
- X-Ray Repair, Complementing Defective, in Chinese Hamster, 9
- Zinc Finger Homeobox 1B
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