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GeneReviews® - NCBI Bookshelf
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GeneReviews, an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families. Each chapter in GeneReviews is written by one or more experts on the specific condition or disease and goes through a rigorous editing and peer review process before being published online.
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Внешние ссылки главной страницы ( 10 ) | |
ncbi.nlm.nih.gov/books/NBK1116/ | <img> |
washington.edu | University of Washington, Seattle |
genereviews.org/ | http://www.genereviews.org/ |
support.ncbi.nlm.nih.gov/ics/support/KBList.asp?Time=2019-12... | Support Center |
nlm.nih.gov/privacy.html | privacy policy |
nlm.nih.gov/ | U.S. National Library of Medicine |
nih.gov | NIH |
hhs.gov | DHHS |
usa.gov | USA.gov |
ncbi.nlm.nih.gov | National Center for Biotechnology Information |
Внутренние ссылки главной страницы ( 771 ) | |
/guide/browsers/#accesskeys | About NCBI Accesskeys |
Support Center | |
/static/header_footer_ajax/submenu/#howto | How To |
/account/settings/ | - |
/myncbi/ | My NCBI |
/account/ | Sign in to NCBI |
/account/signout/ | Sign Out |
/books/ | Bookshelf |
/books/browse/ | Browse Titles |
/books/advanced/ | Advanced |
/books/NBK3833/ | Help |
/books/n/gene/mdel1q21_1/ | Next > |
/books/n/gene/GRcopyright_permiss/ | GeneReviews® Copyright Notice and Usage Disclaimer |
/books/n/gene/advanced/ | Advanced Search |
/books/n/gene/helpadvsearch/ | Help |
/books/n/gene/glossary/def-item/genetic-counseling/ | genetic counseling |
/books/n/gene/GRrevprocesses/#GRrevprocesses.Revisions | revisions |
/books/n/gene/glossary/def-item/gene/ | gene |
/books/n/gene/glossary/def-item/phenotype/ | phenotype |
/books/n/gene/GRpersonnel/ | Personnel |
/books/n/gene/glossary/ | Glossary |
/books/n/gene/resource_mats/ | Resource Materials |
/books/n/gene/archived_chapters/ | here |
/books/n/gene/mdel3q29/ | 3q29 Recurrent Deletion |
/books/n/gene/dup7q11_23/ | 7q11.23 Duplication Syndrome |
/books/n/gene/dup15q/ | 15q Duplication Syndrome and Related Disorders |
/books/n/gene/mdel15q13_3/ | 15q13.3 Microdeletion |
/books/n/gene/del16p11_2/ | 16p11.2 Recurrent Microdeletion |
/books/n/gene/mdel16p12_2/ | 16p12.2 Recurrent Deletion |
/books/n/gene/dup17q12/ | 17q12 Recurrent Duplication |
/books/n/gene/mdel17q12/ | 17q12 Recurrent Deletion Syndrome |
/books/n/gene/cah/ | 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia |
/books/n/gene/gr_22q11deletion/ | 22q11.2 Deletion Syndrome |
/books/n/gene/dupl22q11/ | 22q11.2 Duplication |
/books/n/gene/actg2-dis/ | -Related Disorders |
/books/n/gene/adamtsl4-eyes/ | Related Eye Disorders |
/books/n/gene/adcy5-dysk/ | -Related Dyskinesia |
/books/n/gene/adnp-dis/ | Related Intellectual Disability and Autism Spectrum Disorder |
/books/n/gene/ipa/ | -Related Familial Isolated Pituitary Adenomas |
/books/n/gene/alk-nbs/ | -Related Neuroblastic Tumor Susceptibility |
/books/n/gene/iahsp/ | -Related Disorders |
/books/n/gene/ankrd26/ | -Related Thrombocytopenia |
/books/n/gene/ano5-md/ | Muscle Disease |
/books/n/gene/ap4-def/ | AP-4-Associated Hereditary Spastic Paraplegia |
/books/n/gene/fap/ | -Associated Polyposis Conditions |
/books/n/gene/arid1b-dis/ | -Related Disorder |
/books/n/gene/arsacs/ | ARSACS |
/books/n/gene/asah1/ | -Related Disorders |
/books/n/gene/rapid-odp/ | Related Neurologic Disorders |
/books/n/gene/cutis-laxa/ | -Related Cutis Laxa |
/books/n/gene/menkes/ | -Related Copper Transport Disorders |
/books/n/gene/pfic/ | ATP8B1 Deficiency |
/books/n/gene/ab-lipo-p/ | Abetalipoproteinemia |
/books/n/gene/acp/ | Aceruloplasminemia |
/books/n/gene/achon1b/ | Achondrogenesis Type 1B |
/books/n/gene/achondroplasia/ | Achondroplasia |
/books/n/gene/achm/ | Achromatopsia |
/books/n/gene/npab/ | Acid Sphingomyelinase Deficiency |
/books/n/gene/amrf/ | Action Myoclonus – Renal Failure Syndrome |
/books/n/gene/aip/ | Acute Intermittent Porphyria |
/books/n/gene/adams-oliver/ | Adams-Oliver Syndrome |
/books/n/gene/aprt-def/ | Adenine Phosphoribosyltransferase Deficiency |
/books/n/gene/ada2-def/ | Adenosine Deaminase 2 Deficiency |
/books/n/gene/ada/ | Adenosine Deaminase Deficiency |
/books/n/gene/apbd/ | Adult Polyglucosan Body Disease |
/books/n/gene/aic/ | Aicardi Syndrome |
/books/n/gene/ags/ | Aicardi-Goutières Syndrome |
/books/n/gene/alagille/ | Alagille Syndrome |
/books/n/gene/alexander/ | Alexander Disease |
/books/n/gene/alkap/ | Alkaptonuria |
/books/n/gene/alpha1-a/ | Alpha-1 Antitrypsin Deficiency |
/books/n/gene/a-mannosidosis/ | Alpha-Mannosidosis |
/books/n/gene/xlmr/ | Alpha-Thalassemia X-Linked Intellectual Disability Syndrome |
/books/n/gene/a-thal/ | Alpha-Thalassemia |
/books/n/gene/alport/ | Alport Syndrome |
/books/n/gene/alstrom/ | Alström Syndrome |
/books/n/gene/alzheimer/ | Alzheimer Disease Overview |
/books/n/gene/amish-mcph/ | Amish Lethal Microcephaly |
/books/n/gene/als-overview/ | Amyotrophic Lateral Sclerosis Overview |
/books/n/gene/acpp/ | Andersen-Tawil Syndrome |
/books/n/gene/androgen/ | Androgen Insensitivity Syndrome |
/books/n/gene/angelman/ | Angelman Syndrome |
/books/n/gene/apert/ | Apert Syndrome |
/books/n/gene/arg1/ | Arginase Deficiency |
/books/n/gene/args-aciduria/ | Argininosuccinate Lyase Deficiency |
/books/n/gene/arvd/ | Arrhythmogenic Right Ventricular Cardiomyopathy |
/books/n/gene/arterial-t/ | Arterial Tortuosity Syndrome |
/books/n/gene/arts/ | Arts Syndrome |
/books/n/gene/mld/ | Arylsulfatase A Deficiency |
/books/n/gene/as-def/ | Asparagine Synthetase Deficiency |
/books/n/gene/aoa/ | Ataxia with Oculomotor Apraxia Type 1 |
/books/n/gene/aoa2/ | Ataxia with Oculomotor Apraxia Type 2 |
/books/n/gene/aved/ | Ataxia with Vitamin E Deficiency |
/books/n/gene/ataxia-telangiectas/ | Ataxia-Telangiectasia |
/books/n/gene/ao2/ | Atelosteogenesis Type 2 |
/books/n/gene/au-kline/ | Au-Kline Syndrome |
/books/n/gene/alps/ | Autoimmune Lymphoproliferative Syndrome |
/books/n/gene/peaf/ | Autosomal Dominant Epilepsy with Auditory Features |
/books/n/gene/higes/ | Autosomal Dominant Hyper IgE Syndrome |
/books/n/gene/lad-ad/ | Autosomal Dominant Leukodystrophy with Autonomic Disease |
/books/n/gene/adnfle/ | Autosomal Dominant Nocturnal Frontal Lobe Epilepsy |
/books/n/gene/rob-ad/ | Autosomal Dominant Robinow Syndrome |
/books/n/gene/mckd1/ | -Related |
/books/n/gene/hyper-nfj2/ | -Related |
/books/n/gene/mckd2/ | -Related |
/books/n/gene/li-ar/ | Autosomal Recessive Congenital Ichthyosis |
/books/n/gene/bap1-tpds/ | Tumor Predisposition Syndrome |
/books/n/gene/bcl11a-id/ | -Related Intellectual Disability |
/books/n/gene/brca1/ | -Associated Hereditary Breast and Ovarian Cancer |
/books/n/gene/spg17/ | -Related Neurologic Disorders/Seipinopathy |
/books/n/gene/bgs/ | Baller-Gerold Syndrome |
/books/n/gene/baraitser-winter/ | Baraitser-Winter Cerebrofrontofacial Syndrome |
/books/n/gene/bbs/ | Bardet-Biedl Syndrome |
/books/n/gene/barth/ | Barth Syndrome |
/books/n/gene/bws/ | Beckwith-Wiedemann Syndrome |
/books/n/gene/bscl/ | Berardinelli-Seip Congenital Lipodystrophy |
/books/n/gene/bvd/ | Best Vitelliform Macular Dystrophy |
/books/n/gene/bpan/ | Beta-Propeller Protein-Associated Neurodegeneration |
/books/n/gene/b-thal/ | Beta-Thalassemia |
/books/n/gene/bietti-cd/ | Bietti Crystalline Dystrophy |
/books/n/gene/bgd-biotin/ | Biotin-Thiamine-Responsive Basal Ganglia Disease |
/books/n/gene/biotin/ | Biotinidase Deficiency |
/books/n/gene/bhd/ | Birt-Hogg-Dubé Syndrome |
/books/n/gene/bpes/ | Blepharophimosis, Ptosis, and Epicanthus Inversus |
/books/n/gene/bloom/ | Bloom Syndrome |
/books/n/gene/bohring-opitz/ | Bohring-Opitz Syndrome |
/books/n/gene/bofs/ | Branchiooculofacial Syndrome |
/books/n/gene/bor/ | Branchiootorenal Spectrum Disorder |
/books/n/gene/brugada/ | Brugada Syndrome |
/books/n/gene/burn-mckeown/ | Burn-McKeown Syndrome |
/books/n/gene/mpgn/ | C3 Glomerulopathy |
/books/n/gene/als-ftd/ | -Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia |
/books/n/gene/cadasil/ | CADASIL |
/books/n/gene/cask-dis/ | -Related Disorders |
/books/n/gene/catsper-mi/ | -Related Male Infertility |
/books/n/gene/hrpt2/ | -Related Disorders |
/books/n/gene/cdk13-dis/ | -Related Disorder |
/books/n/gene/cebpa-aml/ | Associated Familial Acute Myeloid Leukemia (AML) |
/books/n/gene/charge/ | CHARGE Syndrome |
/books/n/gene/chchd10-dis/ | -Related Disorders |
/books/n/gene/chd2-dis/ | -Related Neurodevelopmental Disorders |
/books/n/gene/cd-chst3/ | -Related Skeletal Dysplasia |
/books/n/gene/cc2-leuk/ | -Related Leukoencephalopathy |
/books/n/gene/clcn7/ | -Related Osteopetrosis |
/books/n/gene/clpb-def/ | CLPB Deficiency |
/books/n/gene/oi/ | Osteogenesis Imperfecta |
/books/n/gene/col4a1-dis/ | -Related Disorders |
/books/n/gene/hdls/ | Related Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia |
/books/n/gene/caffey/ | Caffey Disease |
/books/n/gene/lgmd2a/ | Calpainopathy |
/books/n/gene/campo-dysp/ | Campomelic Dysplasia |
/books/n/gene/ced/ | Camurati-Engelmann Disease |
/books/n/gene/canavan/ | Canavan Disease |
/books/n/gene/cantu/ | Cantú Syndrome and Related Disorders |
/books/n/gene/rasa1-rel-dis/ | Capillary Malformation-Arteriovenous Malformation Syndrome |
/books/n/gene/ca5a-def/ | Carbonic Anhydrase VA Deficiency |
/books/n/gene/cfc/ | Cardiofaciocutaneous Syndrome |
/books/n/gene/carney/ | Carney Complex |
/books/n/gene/cpt1a/ | Carnitine Palmitoyltransferase 1A Deficiency |
/books/n/gene/cpt2/ | Carnitine Palmitoyltransferase II Deficiency |
/books/n/gene/chh/ | Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders |
/books/n/gene/cvt/ | Catecholaminergic Polymorphic Ventricular Tachycardia |
/books/n/gene/celiac/ | Celiac Disease |
/books/n/gene/ccm/ | Cerebral Cavernous Malformation, Familial |
/books/n/gene/ctx/ | Cerebrotendinous Xanthomatosis |
/books/n/gene/char/ | Char Syndrome |
/books/n/gene/cmt/ | Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview |
/books/n/gene/cmt2a/ | Charcot-Marie-Tooth Neuropathy Type 2A |
/books/n/gene/cmt4c/ | Charcot-Marie-Tooth Neuropathy Type 4C |
/books/n/gene/cmtx/ | Charcot-Marie-Tooth Neuropathy X Type 1 |
/books/n/gene/cmtx5/ | Charcot-Marie-Tooth Neuropathy X Type 5 |
/books/n/gene/chediak-higashi/ | Chediak-Higashi Syndrome |
/books/n/gene/cherubism/ | Cherubism |
/books/n/gene/cach/ | Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter |
/books/n/gene/cdp1-xlr/ | Chondrodysplasia Punctata 1, X-Linked |
/books/n/gene/x-dcdp/ | Chondrodysplasia Punctata 2, X-Linked |
/books/n/gene/chac/ | Chorea-Acanthocytosis |
/books/n/gene/choroid/ | Choroideremia |
/books/n/gene/christianson/ | Christianson Syndrome |
/books/n/gene/cgd/ | Chronic Granulomatous Disease |
/books/n/gene/citrin/ | Citrin Deficiency |
/books/n/gene/ctlm/ | Citrullinemia Type I |
/books/n/gene/eds/ | Classic Ehlers-Danlos Syndrome |
/books/n/gene/galactosemia/ | Classic Galactosemia and Clinical Variant Galactosemia |
/books/n/gene/ccd/ | Cleidocranial Dysplasia Spectrum Disorder |
/books/n/gene/cockayne/ | Cockayne Syndrome |
/books/n/gene/cls/ | Coffin-Lowry Syndrome |
/books/n/gene/coffin-siris/ | Coffin-Siris Syndrome |
/books/n/gene/cohen/ | Cohen Syndrome |
/books/n/gene/ciss/ | Cold-Induced Sweating Syndrome Including Crisponi Syndrome |
/books/n/gene/bethlem/ | Collagen Type VI-Related Disorders |
/books/n/gene/pai-1-def/ | Complete Plasminogen Activator Inhibitor 1 Deficiency |
/books/n/gene/ccfdn/ | Congenital Cataracts, Facial Dysmorphism, and Neuropathy |
/books/n/gene/ondine/ | Congenital Central Hypoventilation Syndrome |
/books/n/gene/cca/ | Congenital Contractural Arachnodactyly |
/books/n/gene/df-lamm/ | Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia |
/books/n/gene/cdh-ov/ | Congenital Diaphragmatic Hernia Overview |
/books/n/gene/cdg/ | Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview |
/books/n/gene/cda1/ | Congenital Dyserythropoietic Anemia Type I |
/books/n/gene/cep/ | Congenital Erythropoietic Porphyria |
/books/n/gene/cfeom/ | Congenital Fibrosis of the Extraocular Muscles |
/books/n/gene/hepatic-fibrosis/ | Congenital Hepatic Fibrosis Overview |
/books/n/gene/cip-overview/ | Congenital Insensitivity to Pain Overview |
/books/n/gene/hsan4/ | Congenital Insensitivity to Pain with Anhidrosis |
/books/n/gene/mirror/ | Congenital Mirror Movements |
/books/n/gene/cms/ | Congenital Myasthenic Syndromes |
/books/n/gene/csc-dys/ | Congenital Stromal Corneal Dystrophy |
/books/n/gene/cdls/ | Cornelia de Lange Syndrome |
/books/n/gene/costello/ | Costello Syndrome |
/books/n/gene/ce-dysp/ | Cranioectodermal Dysplasia |
/books/n/gene/m-hfm-ov/ | Craniofacial Microsomia Overview |
/books/n/gene/cranio-md/ | Craniometaphyseal Dysplasia, Autosomal Dominant |
/books/n/gene/creatine/ | Creatine Deficiency Syndromes |
/books/n/gene/cf/ | Cystic Fibrosis and Congenital Absence of the Vas Deferens |
/books/n/gene/ctns/ | Cystinosis |
/books/n/gene/abs/ | Cytochrome P450 Oxidoreductase Deficiency |
/books/n/gene/dcx/ | -Related Disorders |
/books/n/gene/depdc5-epilepsy/ | -Related Epilepsy |
/books/n/gene/dfna2/ | DFNA2 Nonsyndromic Hearing Loss |
/books/n/gene/dfnx1/ | DFNX1 Nonsyndromic Hearing Loss and Deafness |
/books/n/gene/pp-blastoma/ | -Related Disorders |
/books/n/gene/dnmt1-ddsn/ | -Related Disorder |
/books/n/gene/drpla/ | DRPLA |
/books/n/gene/dyrk1a-id/ | Related Intellectual Disability Syndrome |
/books/n/gene/gnal-dystonia/ | DYT-GNAL |
/books/n/gene/dystonia/ | DYT1 Early-Onset Isolated Dystonia |
/books/n/gene/dfn-myop/ | Deafness and Myopia Syndrome |
/books/n/gene/ddon/ | Deafness-Dystonia-Optic Neuronopathy Syndrome |
/books/n/gene/dent/ | Dent Disease |
/books/n/gene/dguok-mtddepl/ | Deoxyguanosine Kinase Deficiency |
/books/n/gene/dmtn/ | Diabetes Mellitus, 6q24-Related Transient Neonatal |
/books/n/gene/diamond-b/ | Diamond-Blackfan Anemia |
/books/n/gene/diastrophic-d/ | Diastrophic Dysplasia |
/books/n/gene/dld-def/ | Dihydrolipoamide Dehydrogenase Deficiency |
/books/n/gene/dcm-ov/ | Dilated Cardiomyopathy Overview |
/books/n/gene/gnas-dis/ | Inactivation |
/books/n/gene/cbl/ | Disorders of Intracellular Cobalamin Metabolism |
/books/n/gene/donnai/ | Donnai-Barrow Syndrome |
/books/n/gene/dbh/ | Dopamine Beta-Hydroxylase Deficiency |
/books/n/gene/duane/ | Duane Syndrome |
/books/n/gene/duarte-gal/ | Duarte Variant Galactosemia |
/books/n/gene/miyoshi/ | Dysferlinopathy |
/books/n/gene/dkc/ | Dyskeratosis Congenita |
/books/n/gene/hmdpc/ | Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease |
/books/n/gene/ebd/ | Dystrophic Epidermolysis Bullosa |
/books/n/gene/dbmd/ | Dystrophinopathies |
/books/n/gene/eed-og/ | -Related Overgrowth |
/books/n/gene/efemp2-cutis-laxa/ | -Related Cutis Laxa |
/books/n/gene/cyclic-n/ | -Related Neutropenia |
/books/n/gene/epb42-spherocytosis/ | -Related Hereditary Spherocytosis |
/books/n/gene/exosc3-pc-hypo-p/ | -Related Pontocerebellar Hypoplasia |
/books/n/gene/weaver/ | -Related Overgrowth |
/books/n/gene/emanuel/ | Emanuel Syndrome |
/books/n/gene/edmd/ | Emery-Dreifuss Muscular Dystrophy |
/books/n/gene/msx2/ | Enlarged Parietal Foramina |
/books/n/gene/ebs/ | Epidermolysis Bullosa Simplex |
/books/n/gene/eb-pa/ | Epidermolysis Bullosa with Pyloric Atresia |
/books/n/gene/gale-def/ | Epimerase Deficiency Galactosemia |
/books/n/gene/ea1/ | Episodic Ataxia Type 1 |
/books/n/gene/ea2/ | Episodic Ataxia Type 2 |
/books/n/gene/epp-ar/ | Erythropoietic Protoporphyria, Autosomal Recessive |
/books/n/gene/tef-ov/ | Esophageal Atresia/Tracheoesophageal Fistula Overview |
/books/n/gene/ee/ | Ethylmalonic Encephalopathy |
/books/n/gene/fars2-def/ | FARS2 Deficiency |
/books/n/gene/fbln5-cutis-laxa/ | -Related Cutis Laxa |
/books/n/gene/fbxl4-mtddepl/ | -Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome |
/books/n/gene/craniosynostosis/ | -Related Craniosynostosis Syndromes |
/books/n/gene/fkbp14-keds/ | Kyphoscoliotic Ehlers-Danlos Syndrome |
/books/n/gene/x-pvh/ | -Related Periventricular Nodular Heterotopia |
/books/n/gene/flnb-dis/ | -Related Disorders |
/books/n/gene/fragilex/ | Disorders |
/books/n/gene/foxp2-sl-dis/ | Related Speech and Language Disorders |
/books/n/gene/mota/ | Autosomal Recessive Disorders |
/books/n/gene/xl-nystag/ | -Related Infantile Nystagmus |
/books/n/gene/fabry/ | Fabry Disease |
/books/n/gene/fsh/ | Facioscapulohumeral Muscular Dystrophy |
/books/n/gene/factor-v-leiden/ | Factor V Leiden Thrombophilia |
/books/n/gene/fd/ | Familial Dysautonomia |
/books/n/gene/fevr/ | Familial Exudative Vitreoretinopathy, Autosomal Dominant |
/books/n/gene/fhm/ | Familial Hemiplegic Migraine |
/books/n/gene/hyperchol/ | Familial Hypercholesterolemia |
/books/n/gene/hi/ | Familial Hyperinsulinism |
/books/n/gene/lpl/ | Familial Lipoprotein Lipase Deficiency |
/books/n/gene/fmf/ | Familial Mediterranean Fever |
/books/n/gene/mono7-mds/ | Familial Monosomy 7 Syndrome |
/books/n/gene/pnknd/ | Familial Paroxysmal Nonkinesigenic Dyskinesia |
/books/n/gene/porphyria-ct/ | Familial Porphyria Cutanea Tarda |
/books/n/gene/fa/ | Fanconi Anemia |
/books/n/gene/fahn/ | Fatty Acid Hydroxylase-Associated Neurodegeneration |
/books/n/gene/feingold/ | Feingold Syndrome 1 |
/books/n/gene/mccune-albright/ | Fibrous Dysplasia/McCune-Albright Syndrome |
/books/n/gene/fhs/ | Floating-Harbor Syndrome |
/books/n/gene/focal-dh/ | Focal Dermal Hypoplasia |
/books/n/gene/issd/ | Free Sialic Acid Storage Disorders |
/books/n/gene/friedreich/ | Friedreich Ataxia |
/books/n/gene/ftd-chmp2b/ | Frontotemporal Dementia, Chromosome 3-Linked |
/books/n/gene/fructose1-6-def/ | Fructose-1,6-Bisphosphatase Deficiency |
/books/n/gene/fryns/ | Fryns Syndrome |
/books/n/gene/fcmd/ | Fukuyama Congenital Muscular Dystrophy |
/books/n/gene/fum/ | Fumarate Hydratase Deficiency |
/books/n/gene/g6pc3-def/ | G6PC3 Deficiency |
/books/n/gene/cmt2d/ | -Associated Axonal Neuropathy |
/books/n/gene/gata1/ | -Related X-Linked Cytopenia |
/books/n/gene/cmt-4a/ | -Related Hereditary Motor and Sensory Neuropathy |
/books/n/gene/gm1-ganglio/ | Related Disorders |
/books/n/gene/glyt1-dis/ | GLYT1 Encephalopathy |
/books/n/gene/ibm/ | -Related Myopathy |
/books/n/gene/ml2/ | -Related Disorders |
/books/n/gene/grin1-ndd/ | -Related Neurodevelopmental Disorder |
/books/n/gene/grin2a-dis/ | -Related Speech Disorders and Epilepsy |
/books/n/gene/grin2b/ | -Related Neurodevelopmental Disorder |
/books/n/gene/ftd-grn/ | -Related Frontotemporal Dementia |
/books/n/gene/drd/ | GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia |
/books/n/gene/gabriele-devries/ | Gabriele-de Vries Syndrome |
/books/n/gene/gaucher/ | Gaucher Disease |
/books/n/gene/geleophys-dysp/ | Geleophysic Dysplasia |
/books/n/gene/gaci/ | Generalized Arterial Calcification of Infancy |
/books/n/gene/husa/ | Genetic Atypical Hemolytic-Uremic Syndrome |
/books/n/gene/prion/ | Genetic Prion Diseases |
/books/n/gene/gan/ | Giant Axonal Neuropathy |
/books/n/gene/glut1/ | Glucose Transporter Type 1 Deficiency Syndrome |
/books/n/gene/glutaric-a1/ | Glutaric Acidemia Type 1 |
/books/n/gene/gsd1/ | Glycogen Storage Disease Type I |
/books/n/gene/gsd3/ | Glycogen Storage Disease Type III |
/books/n/gene/gsd4/ | Glycogen Storage Disease Type IV |
/books/n/gene/gsd5/ | Glycogen Storage Disease Type V |
/books/n/gene/gsd6/ | Glycogen Storage Disease Type VI |
/books/n/gene/gcps/ | Greig Cephalopolysyndactyly Syndrome |
/books/n/gene/hemochromatosis/ | Hemochromatosis |
/books/n/gene/carasil/ | Disorder |
/books/n/gene/hfg/ | Hand-Foot-Genital Syndrome |
/books/n/gene/hartsfield/ | Hartsfield Syndrome |
/books/n/gene/hemo-a/ | Hemophilia A |
/books/n/gene/hemo-b/ | Hemophilia B |
/books/n/gene/vodi/ | Hepatic Veno-Occlusive Disease with Immunodeficiency |
/books/n/gene/hep/ | Hepatoerythropoietic Porphyria |
/books/n/gene/ataxias/ | Hereditary Ataxia Overview |
/books/n/gene/hcp/ | Hereditary Coproporphyria |
/books/n/gene/hgc/ | Hereditary Diffuse Gastric Cancer |
/books/n/gene/hered-drta/ | Hereditary Distal Renal Tubular Acidosis |
/books/n/gene/dystonia-ov/ | Hereditary Dystonia Overview |
/books/n/gene/hfpoik-tmp/ | Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis |
/books/n/gene/folate-mal/ | Hereditary Folate Malabsorption |
/books/n/gene/hfi/ | Hereditary Fructose Intolerance |
/books/n/gene/deafness-overview/ | Hereditary Hearing Loss and Deafness Overview |
/books/n/gene/hht/ | Hereditary Hemorrhagic Telangiectasia |
/books/n/gene/hlrcc/ | Hereditary Leiomyomatosis and Renal Cell Cancer |
/books/n/gene/accpn/ | Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum |
/books/n/gene/ext/ | Hereditary Multiple Osteochondromas |
/books/n/gene/hmerf/ | Hereditary Myopathy with Early Respiratory Failure |
/books/n/gene/hnpp/ | Hereditary Neuropathy with Liability to Pressure Palsies |
/books/n/gene/paragangliomas/ | Hereditary Paraganglioma-Pheochromocytoma Syndromes |
/books/n/gene/hsan2/ | Hereditary Sensory and Autonomic Neuropathy Type II |
/books/n/gene/hsp/ | Hereditary Spastic Paraplegia Overview |
/books/n/gene/tfap/ | Hereditary Transthyretin Amyloidosis |
/books/n/gene/pph/ | Heritable Pulmonary Arterial Hypertension |
/books/n/gene/taa/ | Heritable Thoracic Aortic Disease Overview |
/books/n/gene/hps/ | Hermansky-Pudlak Syndrome |
/books/n/gene/tay-sachs/ | Hexosaminidase A Deficiency |
/books/n/gene/ed2/ | Hidrotic Ectodermal Dysplasia 2 |
/books/n/gene/hirschsprung-ov/ | Hirschsprung Disease Overview |
/books/n/gene/hpe-overview/ | Holoprosencephaly Overview |
/books/n/gene/hos/ | Holt-Oram Syndrome |
/books/n/gene/homocystinuria/ | Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency |
/books/n/gene/huntington/ | Huntington Disease |
/books/n/gene/hd-l2/ | Huntington Disease-Like 2 |
/books/n/gene/huppke-brendel/ | Huppke-Brendel Syndrome |
/books/n/gene/hgps/ | Hutchinson-Gilford Progeria Syndrome |
/books/n/gene/sys-h/ | Hyalinosis, Inherited Systemic |
/books/n/gene/hyperek/ | Hyperekplexia |
/books/n/gene/hyper-pp/ | Hyperkalemic Periodic Paralysis |
/books/n/gene/eds3/ | Hypermobile Ehlers-Danlos Syndrome |
/books/n/gene/hhhs/ | Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
/books/n/gene/hyper-ftc/ | Hyperphosphatemic Familial Tumoral Calcinosis |
/books/n/gene/hyper-card/ | Hypertrophic Cardiomyopathy Overview |
/books/n/gene/hypochondroplasia/ | Hypochondroplasia |
/books/n/gene/x-hed/ | Hypohidrotic Ectodermal Dysplasia |
/books/n/gene/hpp/ | Hypokalemic Periodic Paralysis |
/books/n/gene/hypo-mcc/ | Hypomyelination and Congenital Cataract |
/books/n/gene/hops/ | Hypophosphatasia |
/books/n/gene/image/ | IMAGe Syndrome |
/books/n/gene/insr-ir/ | -Related Severe Syndromic Insulin Resistance |
/books/n/gene/ipex/ | IPEX Syndrome |
/books/n/gene/vws/ | -Related Disorders |
/books/n/gene/isca1-mmds/ | -Related Multiple Mitochondrial Dysfunctions Syndrome |
/books/n/gene/isca2-mt-dis/ | -Related Mitochondrial Disorder |
/books/n/gene/ibmpfd/ | Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia |
/books/n/gene/i-p/ | Incontinentia Pigmenti |
/books/n/gene/sca-io/ | Infantile-Onset Spinocerebellar Ataxia |
/books/n/gene/kms/ | Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency |
/books/n/gene/mma/ | Isolated Methylmalonic Acidemia |
/books/n/gene/iso-def/ | Isolated Sulfite Oxidase Deficiency |
/books/n/gene/jln/ | Jervell and Lange-Nielsen Syndrome |
/books/n/gene/joubert/ | Joubert Syndrome |
/books/n/gene/ebj/ | Junctional Epidermolysis Bullosa |
/books/n/gene/jh/ | Juvenile Hereditary Hemochromatosis |
/books/n/gene/jps/ | Juvenile Polyposis Syndrome |
/books/n/gene/kat6b-dis/ | -Related Disorders |
/books/n/gene/kbgs/ | KBG Syndrome |
/books/n/gene/kcnk9-is/ | Imprinting Syndrome |
/books/n/gene/bfns/ | -Related Disorders |
/books/n/gene/kcnq3-dis/ | -Related Disorders |
/books/n/gene/kcnt1-epilepsy/ | -Related Epilepsy |
/books/n/gene/kmt2b-dystonia/ | -Related Dystonia |
/books/n/gene/kabuki/ | Kabuki Syndrome |
/books/n/gene/kos/ | Kaufman Oculocerebrofacial Syndrome |
/books/n/gene/kindler/ | Kindler Syndrome |
/books/n/gene/kleefstra/ | Kleefstra Syndrome |
/books/n/gene/mdel17q21_31/ | Koolen-de Vries Syndrome |
/books/n/gene/krabbe/ | Krabbe Disease |
/books/n/gene/l1cam/ | L1 Syndrome |
/books/n/gene/mdef-cmd/ | -Related Muscular Dystrophy |
/books/n/gene/dcm-lmna/ | -Related Dilated Cardiomyopathy |
/books/n/gene/lrrk2/ | Parkinson Disease |
/books/n/gene/ltbp4-cutis-laxa/ | -Related Cutis Laxa |
/books/n/gene/mpd1/ | Laing Distal Myopathy |
/books/n/gene/lms/ | Lateral Meningocele Syndrome |
/books/n/gene/lca-ov/ | Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview |
/books/n/gene/lhon/ | Leber Hereditary Optic Neuropathy |
/books/n/gene/legius/ | Legius Syndrome |
/books/n/gene/lns/ | Lesch-Nyhan Syndrome |
/books/n/gene/leukodys-ov/ | Leukodystrophy Overview |
/books/n/gene/lbsl/ | Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation |
/books/n/gene/li-fraumeni/ | Li-Fraumeni Syndrome |
/books/n/gene/lipoid-p/ | Lipoid Proteinosis |
/books/n/gene/loeys-dietz/ | Loeys-Dietz Syndrome |
/books/n/gene/rws/ | Long QT Syndrome |
/books/n/gene/lowe/ | Lowe Syndrome |
/books/n/gene/lds/ | Lymphedema-Distichiasis Syndrome |
/books/n/gene/x-lpd/ | Lymphoproliferative Disease, X-Linked |
/books/n/gene/hnpcc/ | Lynch Syndrome |
/books/n/gene/lpi/ | Lysinuric Protein Intolerance |
/books/n/gene/lal-def/ | Lysosomal Acid Lipase Deficiency |
/books/n/gene/mbd5-dis/ | Haploinsufficiency |
/books/n/gene/thctd/ | MCT8-Specific Thyroid Hormone Cell-Membrane Transporter Deficiency |
/books/n/gene/rett/ | Disorders |
/books/n/gene/mecp2-dup/ | Duplication Syndrome |
/books/n/gene/mecr-dis/ | -Related Neurologic Disorder |
/books/n/gene/fg/ | -Related Disorders |
/books/n/gene/megdel/ | MEGDEL Syndrome |
/books/n/gene/melas/ | MELAS |
/books/n/gene/merrf/ | MERRF |
/books/n/gene/mpph/ | MPPH Syndrome |
/books/n/gene/mpv17-mtdep/ | Related Mitochondrial DNA Maintenance Defect |
/books/n/gene/maps/ | Polyposis |
/books/n/gene/myh9/ | -Related Disorders |
/books/n/gene/mhs/ | Malignant Hyperthermia Susceptibility |
/books/n/gene/mf-dys-mic/ | Mandibulofacial Dysostosis with Microcephaly |
/books/n/gene/msud/ | Maple Syrup Urine Disease |
/books/n/gene/marfan/ | Marfan Syndrome |
/books/n/gene/mss/ | Marinesco-Sjögren Syndrome |
/books/n/gene/mody-ov/ | Maturity-Onset Diabetes of the Young Overview |
/books/n/gene/mkks/ | McKusick-Kaufman Syndrome |
/books/n/gene/mcleod/ | McLeod Neuroacanthocytosis Syndrome |
/books/n/gene/mcad/ | Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency |
/books/n/gene/mmihs-ov/ | Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview |
/books/n/gene/mlc/ | Megalencephalic Leukoencephalopathy with Subcortical Cysts |
/books/n/gene/miccap-ms/ | Microcephaly-Capillary Malformation Syndrome |
/books/n/gene/microph-lsd/ | Microphthalmia with Linear Skin Defects Syndrome |
/books/n/gene/milroy/ | Milroy Disease |
/books/n/gene/kss/ | Mitochondrial DNA Deletion Syndromes |
/books/n/gene/narp/ | Mitochondrial DNA-Associated Leigh Syndrome and NARP |
/books/n/gene/mtdna-md-ov/ | Mitochondrial DNA Maintenance Defects Overview |
/books/n/gene/mt-overview/ | Mitochondrial Disorders Overview |
/books/n/gene/mt-mpan/ | Mitochondrial Membrane Protein-Associated Neurodegeneration |
/books/n/gene/mngie/ | Mitochondrial Neurogastrointestinal Encephalopathy Disease |
/books/n/gene/echs1-def/ | Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency |
/books/n/gene/mws/ | Mowat-Wilson Syndrome |
/books/n/gene/ml3c/ | Mucolipidosis III Gamma |
/books/n/gene/ml4/ | Mucolipidosis IV |
/books/n/gene/mps1/ | Mucopolysaccharidosis Type I |
/books/n/gene/hunter/ | Mucopolysaccharidosis Type II |
/books/n/gene/mps3/ | Mucopolysaccharidosis Type III |
/books/n/gene/mps4a/ | Mucopolysaccharidosis Type IVA |
/books/n/gene/muenke/ | Muenke Syndrome |
/books/n/gene/mona/ | Multicentric Osteolysis Nodulosis and Arthropathy |
/books/n/gene/vmcm/ | Multiple Cutaneous and Mucosal Venous Malformations |
/books/n/gene/men1/ | Multiple Endocrine Neoplasia Type 1 |
/books/n/gene/men2/ | Multiple Endocrine Neoplasia Type 2 |
/books/n/gene/edm-ad/ | Multiple Epiphyseal Dysplasia, Autosomal Dominant |
/books/n/gene/edm/ | Multiple Epiphyseal Dysplasia, Recessive |
/books/n/gene/m-sulfatase-def/ | Multiple Sulfatase Deficiency |
/books/n/gene/myhre/ | Myhre Syndrome |
/books/n/gene/myodef-sda/ | Myopathy with Deficiency of ISCU |
/books/n/gene/myotonia-c/ | Myotonia Congenita |
/books/n/gene/myotonic-d/ | Myotonic Dystrophy Type 1 |
/books/n/gene/myotonic-d2/ | Myotonic Dystrophy Type 2 |
/books/n/gene/norrie/ | -Related Retinopathies |
/books/n/gene/nfia-dis/ | -Related Disorder |
/books/n/gene/ngly1-cddg/ | -Related Congenital Disorder of Deglycosylation |
/books/n/gene/nkx2-1-dis/ | -Related Disorders |
/books/n/gene/nkx6-2-spax/ | -Related Disorder |
/books/n/gene/ahc/ | Related Adrenal Hypoplasia Congenita |
/books/n/gene/nsdhl-dis/ | -Related Disorders |
/books/n/gene/nail-ps/ | Nail-Patella Syndrome |
/books/n/gene/ndi/ | Nephrogenic Diabetes Insipidus |
/books/n/gene/nephron-ov/ | Nephronophthisis |
/books/n/gene/nbia-ov/ | Neurodegeneration with Brain Iron Accumulation Disorders Overview |
/books/n/gene/neuroferritin/ | Neuroferritinopathy |
/books/n/gene/nf1/ | Neurofibromatosis 1 |
/books/n/gene/nf2/ | Neurofibromatosis 2 |
/books/n/gene/bcns/ | Nevoid Basal Cell Carcinoma Syndrome |
/books/n/gene/nbs/ | Nicolaides-Baraitser Syndrome |
/books/n/gene/npc/ | Niemann-Pick Disease Type C |
/books/n/gene/nijmegen/ | Nijmegen Breakage Syndrome |
/books/n/gene/nkh/ | Nonketotic Hyperglycinemia |
/books/n/gene/xxms/ | Nonsyndromic 46,XX Testicular Disorders of Sex Development |
/books/n/gene/gonad-dys-46xy/ | Nonsyndromic Disorders of Testicular Development |
/books/n/gene/dfna3/ | Nonsyndromic Hearing Loss and Deafness, DFNA3 |
/books/n/gene/dfnb1/ | Nonsyndromic Hearing Loss and Deafness, DFNB1 |
/books/n/gene/mt-deafness/ | Nonsyndromic Hearing Loss and Deafness, Mitochondrial |
/books/n/gene/rp-overview/ | Nonsyndromic Retinitis Pigmentosa Overview |
/books/n/gene/noonan/ | Noonan Syndrome |
/books/n/gene/leopard/ | Noonan Syndrome with Multiple Lentigines |
/books/n/gene/leigh-nucl-ov/ | Nuclear Gene-Encoded Leigh Syndrome Overview |
/books/n/gene/mga3/ | -Related 3-Methylglutaconic Aciduria |
/books/n/gene/dfnb9/ | -Related Deafness |
/books/n/gene/x-oa/ | Ocular Albinism, X-Linked |
/books/n/gene/oca1/ | Oculocutaneous Albinism Type 1 |
/books/n/gene/oca2/ | Oculocutaneous Albinism Type 2 |
/books/n/gene/oca4/ | Oculocutaneous Albinism Type 4 |
/books/n/gene/opmd/ | Oculopharyngeal Muscular Dystrophy |
/books/n/gene/opa/ | Optic Atrophy Type 1 |
/books/n/gene/ofd1/ | Oral-Facial-Digital Syndrome Type I |
/books/n/gene/otc-def/ | Ornithine Transcarbamylase Deficiency |
/books/n/gene/chrom17-lis/ | -Associated Lissencephaly/Subcortical Band Heterotopia |
/books/n/gene/papr/ | -Related Disorder |
/books/n/gene/aniridia/ | -Related Aniridia |
/books/n/gene/pik3ca-overgrowth/ | -Related Segmental Overgrowth |
/books/n/gene/pink1-pd/ | Type of Young-Onset Parkinson Disease |
/books/n/gene/inad/ | -Associated Neurodegeneration |
/books/n/gene/eds6/ | -Related Kyphoscoliotic Ehlers-Danlos Syndrome |
/books/n/gene/pmd/ | -Related Disorders |
/books/n/gene/cdg-1a/ | ) |
/books/n/gene/pnpla6-dis/ | Related Disorders |
/books/n/gene/alpers/ | -Related Disorders |
/books/n/gene/pol3-leuk/ | POLR3-Related Leukodystrophy |
/books/n/gene/ppp2r5d-dis/ | -Related Neurodevelopmental Disorder |
/books/n/gene/me-ataxia/ | -Related Progressive Myoclonus Epilepsy with Ataxia |
/books/n/gene/prop1/ | -Related Combined Pituitary Hormone Deficiency |
/books/n/gene/prrt2-parox/ | -Associated Paroxysmal Movement Disorders |
/books/n/gene/prss1-hp/ | -Related Hereditary Pancreatitis |
/books/n/gene/phts/ | Hamartoma Tumor Syndrome |
/books/n/gene/pura-dis/ | -Related Neurodevelopmental Disorders |
/books/n/gene/pc/ | Pachyonychia Congenita |
/books/n/gene/phs/ | Pallister-Hall Syndrome |
/books/n/gene/pancreatitis-ov/ | Pancreatitis Overview |
/books/n/gene/pkan/ | Pantothenate Kinase-Associated Neurodegeneration |
/books/n/gene/jpd/ | Parkin Type of Early-Onset Parkinson Disease |
/books/n/gene/parkinson-overview/ | Parkinson Disease Overview |
/books/n/gene/pmld1/ | Pelizaeus-Merzbacher-Like Disease 1 |
/books/n/gene/pendred/ | Pendred Syndrome/Nonsyndromic Enlarged Vestibular Aqueduct |
/books/n/gene/dmn/ | Permanent Neonatal Diabetes Mellitus |
/books/n/gene/perrault/ | Perrault Syndrome |
/books/n/gene/perry/ | Perry Syndrome |
/books/n/gene/peters-plus/ | Peters Plus Syndrome |
/books/n/gene/pjs/ | Peutz-Jeghers Syndrome |
/books/n/gene/gr_22q13_3/ | Phelan-McDermid Syndrome |
/books/n/gene/pku/ | Phenylalanine Hydroxylase Deficiency |
/books/n/gene/prs/ | Phosphoribosylpyrophosphate Synthetase Superactivity |
/books/n/gene/gsd9/ | Phosphorylase Kinase Deficiency |
/books/n/gene/pitt-hopkins/ | Pitt-Hopkins Syndrome |
/books/n/gene/poikiloderma-n/ | Poikiloderma with Neutropenia |
/books/n/gene/pkd-ad/ | Polycystic Kidney Disease, Autosomal Dominant |
/books/n/gene/pkd-ar/ | Polycystic Kidney Disease, Autosomal Recessive |
/books/n/gene/plosl/ | Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL) |
/books/n/gene/poly/ | Polymicrogyria Overview |
/books/n/gene/gsd2/ | Pompe Disease |
/books/n/gene/potocki-lupski/ | Potocki-Lupski Syndrome |
/books/n/gene/pws/ | Prader-Willi Syndrome |
/books/n/gene/pcd/ | Primary Ciliary Dyskinesia |
/books/n/gene/coq10-def/ | Deficiency |
/books/n/gene/glc/ | Primary Congenital Glaucoma |
/books/n/gene/pfcp/ | Primary Familial and Congenital Polycythemia |
/books/n/gene/bgc/ | Primary Familial Brain Calcification |
/books/n/gene/ph1/ | Primary Hyperoxaluria Type 1 |
/books/n/gene/ph2/ | Primary Hyperoxaluria Type 2 |
/books/n/gene/ph3/ | Primary Hyperoxaluria Type 3 |
/books/n/gene/trimethylaminuria/ | Primary Trimethylaminuria |
/books/n/gene/lafora/ | Progressive Myoclonus Epilepsy, Lafora Type |
/books/n/gene/ppr-dysp/ | Progressive Pseudorheumatoid Dysplasia |
/books/n/gene/prolidase-def/ | Prolidase Deficiency |
/books/n/gene/pomc-def/ | Proopiomelanocortin Deficiency |
/books/n/gene/propionic-a/ | Propionic Acidemia |
/books/n/gene/proteus/ | Proteus Syndrome |
/books/n/gene/ptt/ | Prothrombin-Related Thrombophilia |
/books/n/gene/psach/ | Pseudoachondroplasia |
/books/n/gene/pha2/ | Pseudohypoaldosteronism Type II |
/books/n/gene/pxe/ | Pseudoxanthoma Elasticum |
/books/n/gene/pf/ | Pulmonary Fibrosis, Familial |
/books/n/gene/pds/ | Pyridoxine-Dependent Epilepsy |
/books/n/gene/pdc/ | Pyruvate Carboxylase Deficiency |
/books/n/gene/rab18-def/ | RAB18 Deficiency |
/books/n/gene/rere-dis/ | -Related Disorders |
/books/n/gene/rob/ | -Related Robinow Syndrome |
/books/n/gene/rpe65-lca/ | -Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy |
/books/n/gene/rrm2b-mtddepl/ | -Related Mitochondrial Disease |
/books/n/gene/refsum/ | Refsum Disease |
/books/n/gene/rvcl/ | Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations |
/books/n/gene/retinoblastoma/ | Retinoblastoma |
/books/n/gene/rtps/ | Rhabdoid Tumor Predisposition Syndrome |
/books/n/gene/rcdp/ | Rhizomelic Chondrodysplasia Punctata Type 1 |
/books/n/gene/riboflavin-tn/ | Riboflavin Transporter Deficiency Neuronopathy |
/books/n/gene/rbs/ | Roberts Syndrome |
/books/n/gene/rts/ | Rothmund-Thomson Syndrome |
/books/n/gene/rotor/ | Rotor Syndrome |
/books/n/gene/rsts/ | Rubinstein-Taybi Syndrome |
/books/n/gene/drrs/ | -Related Disorders |
/books/n/gene/samd9l-ap/ | -Related Ataxia-Pancytopenia Syndrome |
/books/n/gene/satb2-dis/ | Associated Syndrome |
/books/n/gene/gefs/ | Seizure Disorders |
/books/n/gene/scn8a-ee/ | -Related Epilepsy with Encephalopathy |
/books/n/gene/etha/ | -Related Inherited Erythromelalgia |
/books/n/gene/myo-dystonia/ | Myoclonus-Dystonia |
/books/n/gene/short/ | SHORT Syndrome |
/books/n/gene/lwd/ | SHOX Deficiency Disorders |
/books/n/gene/slc12a5-e/ | -Related Epilepsy of Infancy with Migrating Focal Seizures |
/books/n/gene/slc39a14-def/ | SLC39A14 Deficiency |
/books/n/gene/slc6a3-dtds/ | -Related Dopamine Transporter Deficiency Syndrome |
/books/n/gene/sost/ | -Related Sclerosing Bone Dysplasias |
/books/n/gene/sox2/ | -Related Eye Disorders |
/books/n/gene/hsn1/ | -Related Hereditary Sensory Neuropathy |
/books/n/gene/stac3-dis/ | Disorder |
/books/n/gene/stxbp1-ee/ | Encephalopathy with Epilepsy |
/books/n/gene/sucla2-def/ | -Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria |
/books/n/gene/suclg1-mtddepl/ | -Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria |
/books/n/gene/syne1ca-ar/ | SYNE1 Deficiency |
/books/n/gene/syngap1-id/ | -Related Intellectual Disability |
/books/n/gene/scs/ | Saethre-Chotzen Syndrome |
/books/n/gene/salih-myo/ | Salih Myopathy |
/books/n/gene/siod/ | Schimke Immunoosseous Dysplasia |
/books/n/gene/schmid-mcd/ | Schmid Metaphyseal Chondrodysplasia |
/books/n/gene/schwann/ | Schwannomatosis |
/books/n/gene/spr-def/ | Sepiapterin Reductase Deficiency |
/books/n/gene/scad/ | Short-Chain Acyl-CoA Dehydrogenase Deficiency |
/books/n/gene/sgs/ | Shprintzen-Goldberg Syndrome |
/books/n/gene/sds/ | Shwachman-Diamond Syndrome |
/books/n/gene/sickle/ | Sickle Cell Disease |
/books/n/gene/rss/ | Silver-Russell Syndrome |
/books/n/gene/sgbs/ | Simpson-Golabi-Behmel Syndrome Type 1 |
/books/n/gene/stsl/ | Sitosterolemia |
/books/n/gene/slo/ | Smith-Lemli-Opitz Syndrome |
/books/n/gene/sms/ | Smith-Magenis Syndrome |
/books/n/gene/snyder-robinson/ | Snyder-Robinson Syndrome |
/books/n/gene/sotos/ | Sotos Syndrome |
/books/n/gene/spg3a/ | Spastic Paraplegia 3A |
/books/n/gene/spg4/ | Spastic Paraplegia 4 |
/books/n/gene/spg7/ | Spastic Paraplegia 7 |
/books/n/gene/spg8/ | Spastic Paraplegia 8 |
/books/n/gene/spg11/ | Spastic Paraplegia 11 |
/books/n/gene/kennedy/ | Spinal and Bulbar Muscular Atrophy |
/books/n/gene/sma/ | Spinal Muscular Atrophy |
/books/n/gene/sma-xli/ | Spinal Muscular Atrophy, X-Linked Infantile |
/books/n/gene/sca1/ | Spinocerebellar Ataxia Type 1 |
/books/n/gene/sca2/ | Spinocerebellar Ataxia Type 2 |
/books/n/gene/sca3/ | Spinocerebellar Ataxia Type 3 |
/books/n/gene/sca6/ | Spinocerebellar Ataxia Type 6 |
/books/n/gene/sca7/ | Spinocerebellar Ataxia Type 7 |
/books/n/gene/sca8/ | Spinocerebellar Ataxia Type 8 |
/books/n/gene/sca10/ | Spinocerebellar Ataxia Type 10 |
/books/n/gene/sca11/ | Spinocerebellar Ataxia Type 11 |
/books/n/gene/sca13/ | Spinocerebellar Ataxia Type 13 |
/books/n/gene/sca14/ | Spinocerebellar Ataxia Type 14 |
/books/n/gene/sca15/ | Spinocerebellar Ataxia Type 15 |
/books/n/gene/sca17/ | Spinocerebellar Ataxia Type 17 |
/books/n/gene/sca20/ | Spinocerebellar Ataxia Type 20 |
/books/n/gene/sca28/ | Spinocerebellar Ataxia Type 28 |
/books/n/gene/sca36/ | Spinocerebellar Ataxia Type 36 |
/books/n/gene/sca37/ | Spinocerebellar Ataxia Type 37 |
/books/n/gene/sca38/ | Spinocerebellar Ataxia Type 38 |
/books/n/gene/spondylocostal-d/ | Spondylocostal Dysostosis, Autosomal Recessive |
/books/n/gene/stickler/ | Stickler Syndrome |
/books/n/gene/ssadh/ | Succinic Semialdehyde Dehydrogenase Deficiency |
/books/n/gene/iiae3/ | Susceptibility to Infection-Induced Acute Encephalopathy 3 |
/books/n/gene/cdsp/ | Systemic Primary Carnitine Deficiency |
/books/n/gene/tango2-mea/ | -Related Metabolic Encephalopathy and Arrhythmias |
/books/n/gene/tardbp-als/ | -Related Amyotrophic Lateral Sclerosis |
/books/n/gene/tbc1d24-dis/ | -Related Disorders |
/books/n/gene/tfr2/ | -Related Hereditary Hemochromatosis |
/books/n/gene/tk2-mtddepl/ | -Related Mitochondrial DNA Maintenance Defect, Myopathic Form |
/books/n/gene/aec/ | -Related Disorders |
/books/n/gene/trio-id/ | -Related Intellectual Disability |
/books/n/gene/cmt2c/ | -Associated Disorders |
/books/n/gene/pc-hypo-p/ | -Related Pontocerebellar Hypoplasia |
/books/n/gene/tubb4a-leuk/ | -Related Leukodystrophy |
/books/n/gene/tangier/ | Tangier Disease |
/books/n/gene/td/ | Thanatophoric Dysplasia |
/books/n/gene/trma/ | Thiamine-Responsive Megaloblastic Anemia Syndrome |
/books/n/gene/gr_3ms/ | Three M Syndrome |
/books/n/gene/tar/ | Thrombocytopenia Absent Radius Syndrome |
/books/n/gene/timothy/ | Timothy Syndrome |
/books/n/gene/tbs/ | Townes-Brocks Syndrome |
/books/n/gene/tcs/ | Treacher Collins Syndrome |
/books/n/gene/sd-thes/ | Trichohepatoenteric Syndrome |
/books/n/gene/tps/ | Trichorhinophalangeal Syndrome |
/books/n/gene/spg20/ | Troyer Syndrome |
/books/n/gene/tuberous-sclerosis/ | Tuberous Sclerosis Complex |
/books/n/gene/tubulin-ov/ | Tubulinopathies Overview |
/books/n/gene/collagen-2/ | Type II Collagen Disorders Overview |
/books/n/gene/thdrd/ | Tyrosine Hydroxylase Deficiency |
/books/n/gene/tyrosinemia/ | Tyrosinemia Type I |
/books/n/gene/unc80-def/ | UNC80 Deficiency |
/books/n/gene/udd/ | Udd Distal Myopathy |
/books/n/gene/epm1/ | Unverricht-Lundborg Disease |
/books/n/gene/ucd-overview/ | Urea Cycle Disorders Overview |
/books/n/gene/urofacial/ | Urofacial Syndrome |
/books/n/gene/usher1/ | Usher Syndrome Type I |
/books/n/gene/usher2/ | Usher Syndrome Type II |
/books/n/gene/wagner/ | -Related Vitreoretinopathy |
/books/n/gene/vldlr-ch/ | -Associated Cerebellar Hypoplasia |
/books/n/gene/vps13d-md/ | Movement Disorder |
/books/n/gene/vps35-pd/ | -Related Parkinson Disease |
/books/n/gene/porphyria-var/ | Variegate Porphyria |
/books/n/gene/eds4/ | Vascular Ehlers-Danlos Syndrome |
/books/n/gene/vlcad/ | Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency |
/books/n/gene/vhl/ | Von Hippel-Lindau Syndrome |
/books/n/gene/von-willebrand/ | von Willebrand Disease |
/books/n/gene/wac-id/ | -Related Intellectual Disability |
/books/n/gene/was/ | -Related Disorders |
/books/n/gene/wdr26-id/ | -Related Intellectual Disability |
/books/n/gene/wfs/ | -Related Disorders |
/books/n/gene/ws1/ | Waardenburg Syndrome Type I |
/books/n/gene/warsaw/ | Warsaw Syndrome |
/books/n/gene/weill-ms/ | Weill-Marchesani Syndrome |
/books/n/gene/weiss-kruszka/ | Weiss-Kruszka Syndrome |
/books/n/gene/werner/ | Werner Syndrome |
/books/n/gene/williams/ | Williams Syndrome |
/books/n/gene/wilms-ov/ | Wilms Tumor Predisposition |
/books/n/gene/wilson/ | Wilson Disease |
/books/n/gene/wss/ | Woodhouse-Sakati Syndrome |
/books/n/gene/x-ag/ | X-Linked Acrogigantism |
/books/n/gene/x-ald/ | X-Linked Adrenoleukodystrophy |
/books/n/gene/xla/ | X-Linked Agammaglobulinemia |
/books/n/gene/csnb/ | X-Linked Congenital Stationary Night Blindness |
/books/n/gene/xdp/ | X-Linked Dystonia-Parkinsonism |
/books/n/gene/xlhi/ | X-Linked Hyper IgM Syndrome |
/books/n/gene/rickets-xlh/ | X-Linked Hypophosphatemia |
/books/n/gene/retinoschisis/ | X-Linked Juvenile Retinoschisis |
/books/n/gene/mtm/ | X-Linked Myotubular Myopathy |
/books/n/gene/opitz/ | X-Linked Opitz G/BBB Syndrome |
/books/n/gene/opd/ | X-Linked Otopalatodigital Spectrum Disorders |
/books/n/gene/epp-xl/ | X-Linked Protoporphyria |
/books/n/gene/x-scid/ | X-Linked Severe Combined Immunodeficiency |
/books/n/gene/sider-anemia/ | X-Linked Sideroblastic Anemia and Ataxia |
/books/n/gene/sedt/ | X-Linked Spondyloepiphyseal Dysplasia Tarda |
/books/n/gene/xp/ | Xeroderma Pigmentosum |
/books/n/gene/xq28-dup/ | Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated |
/books/n/gene/yci/ | Y Chromosome Infertility |
/books/n/gene/zap70-scid/ | -Related Combined Immunodeficiency |
/books/n/gene/pbd/ | Zellweger Spectrum Disorder |
/books/about/copyright/ | Copyright |
/pubmed/20301295 | 20301295 |
/books/NBK1116/?report=reader | PubReader |
/books/NBK1116/?report=printable | Print View |
/books/n/gene/updates/ | New in GeneReviews |
/books/n/gene/authors/ | Author List |
/books/n/gene/prospective_authors/ | For Current/Prospective Authors |
/books/n/gene/howto_linkin/ | Download/Link to GeneReviews |
/books/n/gene/contact_us/ | Contact Us |
/books/?Db=nlmcatalog&DbFrom=books&Cmd=Link&LinkName=books_n... | NLM Catalog |
/pubmed/31486846 | Public health and evidence-informed policy-making: The case of a commonly used herbicide. |
/pubmed/27606391 | Evidence Brief: The Effectiveness Of Mandatory Computer-Based Trainings On Government Ethics, Workplace Harassment, Or Privacy A... |
/pubmed/16888670 | GeneTests: an online genetic information resource for health care providers. |
/pubmed/27820426 | The Effectiveness of Integrated Care Pathways for Adults and Children in Health Care Settings: A Systematic Review. |
/pubmed/29763131 | Medical Error Prevention |
/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed_revi... | See reviews... |
/sites/entrez?db=pubmed&cmd=link&linkname=pubmed_pubmed&uid=... | See all... |
/portal/utils/pageresolver.fcgi?recordid=5deb2792dde0891a3ce... | GeneReviews® |
/sites/myncbi/recentactivity | See more... |
/home/about/policies.shtml | Policies and Guidelines |
/home/about/contact.shtml | Contact |
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