| 15q13.3 Recurrent Deletion | https://www.ncbi.nlm.nih.gov/books/n/gene/mdel15q13_3/ | CNV |
|---|---|---|
| 16p11.2 Recurrent Deletion | https://www.ncbi.nlm.nih.gov/books/n/gene/del16p11_2/ | CNV |
| 16p12.2 Recurrent Deletion | https://www.ncbi.nlm.nih.gov/books/n/gene/mdel16p12_2/ | CNV |
| 17q12 Recurrent Deletion Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/mdel17q12/ | CNV |
| 17q12 Recurrent Duplication | https://www.ncbi.nlm.nih.gov/books/n/gene/dup17q12/ | CNV |
| 1q21.1 Recurrent Deletion | https://www.ncbi.nlm.nih.gov/books/n/gene/mdel1q21_1/ | CNV |
| 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/cah/ | CNV |
| 22q11.2 Deletion Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/gr_22q11deletion/ | CNV |
| 3q29 Recurrent Deletion | https://www.ncbi.nlm.nih.gov/books/n/gene/mdel3q29/ | CNV |
| 7q11.23 Duplication Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/dup7q11_23/ | CNV |
| Abetalipoproteinemia | https://www.ncbi.nlm.nih.gov/books/n/gene/ab-lipo-p/ | Enfermedad metabólica |
| Aceruloplasminemia | https://www.ncbi.nlm.nih.gov/books/n/gene/acp/ | Enfermedad metabólica |
| Achondrogenesis Type 1B | https://www.ncbi.nlm.nih.gov/books/n/gene/achon1b/ | |
| Achondroplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/achondroplasia/ | |
| Achromatopsia | https://www.ncbi.nlm.nih.gov/books/n/gene/achm/ | Oftalmológica |
| Acid Sphingomyelinase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/npab/ | Metabólica |
| ACTG2 Visceral Myopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/actg2-dis/ | |
| Acute Intermittent Porphyria | https://www.ncbi.nlm.nih.gov/books/n/gene/aip/ | Metabólica |
| ADAMTSL4-Related Eye Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/adamtsl4-eyes/ | Oftalmológica |
| ADCY5 Dyskinesia | https://www.ncbi.nlm.nih.gov/books/n/gene/adcy5-dysk/ | |
| Adenine Phosphoribosyltransferase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/aprt-def/ | Enfermedad metabólica |
| Adenosine Deaminase 2 Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/ada2-def/ | Enfermedad autoinflamatoria o inmunodeficiencia |
| Adenosine Deaminase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/ada/ | Enfermedad autoinflamatoria o inmunodeficiencia |
| ADNP-Related Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/adnp-dis/ | |
| Adult Refsum Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/refsum/ | Enfermedad metabólica |
| Aicardi Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/aic/ | Neuropediátrica |
| Aicardi-Goutières Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/ags/ | Neuropediátrica |
| AIP Familial Isolated Pituitary Adenomas | https://www.ncbi.nlm.nih.gov/books/n/gene/ipa/ | Oncológica |
| Alagille Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/alagille/ | Sindrómica |
| Alexander Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/alexander/ | Neuropediátrica |
| Alkaptonuria | https://www.ncbi.nlm.nih.gov/books/n/gene/alkap/ | Metabólica |
| ALK-Related Neuroblastic Tumor Susceptibility | https://www.ncbi.nlm.nih.gov/books/n/gene/alk-nbs/ | Oncológica |
| Allan-Herndon-Dudley Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/thctd/ | Neuropediátrica |
| Alpha-1 Antitrypsin Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/alpha1-a/ | Neumológica |
| Alpha-Mannosidosis | https://www.ncbi.nlm.nih.gov/books/n/gene/a-mannosidosis/ | Metabólica |
| Alpha-Thalassemia | https://www.ncbi.nlm.nih.gov/books/n/gene/a-thal/ | Hematológica |
| Alpha-Thalassemia X-Linked Intellectual Disability Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/xlmr/ | Sindrómica |
| ALPK1-Related Autoinflammatory Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/alpk1-auto/ | Autoinflamatoria y inmunodeficiencias |
| Alport Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/alport/ | Nefrológica |
| ALS2-Related Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/iahsp/ | |
| Alström Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/alstrom/ | |
| Alzheimer Disease Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/alzheimer/ | |
| Amyotrophic Lateral Sclerosis Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/als-overview/ | Neurológica |
| Andersen-Tawil Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/acpp/ | Cardiológica |
| Androgen Insensitivity Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/androgen/ | Endocrinológica |
| Angelman Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/angelman/ | Neuropediátrica |
| ANKRD17-Related Neurodevelopmental Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/ankrd17-nds/ | Neuropediátrica |
| ANKRD26-Related Thrombocytopenia | https://www.ncbi.nlm.nih.gov/books/n/gene/ankrd26/ | Hematológica |
| ANO5 Muscle Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/ano5-md/ | Neuropediátrica |
| AP-4-Associated Hereditary Spastic Paraplegia | https://www.ncbi.nlm.nih.gov/books/n/gene/ap4-def/ | Neuropediátrica |
| APC-Associated Polyposis Conditions | https://www.ncbi.nlm.nih.gov/books/n/gene/fap/ | Oncológica |
| Apert Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/apert/ | Sindrómica |
| APOB-Related Familial Hypobetalipoproteinemia | https://www.ncbi.nlm.nih.gov/books/n/gene/apob-hbl/ | Metabólica |
| Arginase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/arg1/ | Metabólica |
| Argininosuccinate Lyase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/args-aciduria/ | Metabólica |
| ARID1B-Related Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/arid1b-dis/ | Neuropediátrica |
| Aromatic L-Amino Acid Decarboxylase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/aadc-def/ | Metabólica |
| Arrhythmogenic Right Ventricular Cardiomyopathy Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/arvd/ | Cardiológica |
| ARSACS | https://www.ncbi.nlm.nih.gov/books/n/gene/arsacs/ | Neuropediátrica |
| Arterial Tortuosity Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/arterial-t/ | Cardiológica |
| Arylsulfatase A Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/mld/ | Metabólica |
| ASAH1-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/asah1/ | |
| Asparagine Synthetase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/as-def/ | Metabólica |
| Aspartylglucosaminuria | https://www.ncbi.nlm.nih.gov/books/n/gene/agu/ | Metabólica |
| ASPM Primary Microcephaly | https://www.ncbi.nlm.nih.gov/books/n/gene/aspm-pm/ | Neuropediátrica |
| ASXL3-Related Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/asxl3/ | |
| Ataxia with Oculomotor Apraxia Type 2 | https://www.ncbi.nlm.nih.gov/books/n/gene/aoa2/ | Neuropediátrica |
| Ataxia with Vitamin E Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/aved/ | Neuropediátrica |
| Ataxia-Telangiectasia | https://www.ncbi.nlm.nih.gov/books/n/gene/ataxia-telangiectas/ | Neuropediátrica |
| ATN1-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/atn1-ndd/ | Neuropediátrica |
| ATP1A3-Related Neurologic Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/rapid-odp/ | Neuropediátrica |
| ATP6V0A2-Related Cutis Laxa | https://www.ncbi.nlm.nih.gov/books/n/gene/cutis-laxa/ | Sindrómica |
| ATP7A-Related Copper Transport Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/menkes/ | Neuropediátrica |
| ATP8B1 Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/pfic/ | |
| Au-Kline Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/au-kline/ | |
| Autoimmune Lymphoproliferative Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/alps/ | Autoinflamatoria y Inmunodeficiencias |
| Autosomal Dominant Epilepsy with Auditory Features | https://www.ncbi.nlm.nih.gov/books/n/gene/peaf/ | Neuropediátrica |
| Autosomal Dominant Robinow Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/rob-ad/ | Sindrómica |
| Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy | https://www.ncbi.nlm.nih.gov/books/n/gene/adnfle/ | Neuropediátrica |
| Autosomal Dominant Tubulointerstitial Kidney Disease – MUC1 | https://www.ncbi.nlm.nih.gov/books/n/gene/mckd1/ | Nefrológica |
| Autosomal Dominant Tubulointerstitial Kidney Disease – REN | https://www.ncbi.nlm.nih.gov/books/n/gene/hyper-nfj2/ | Nefrológica |
| Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD | https://www.ncbi.nlm.nih.gov/books/n/gene/mckd2/ | Nefrológica |
| Autosomal Dominant TRPV4 Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/cmt2c/ | |
| Autosomal Recessive Congenital Ichthyosis | https://www.ncbi.nlm.nih.gov/books/n/gene/li-ar/ | Dermatológica |
| Autosomal Recessive Polycystic Kidney Disease – PKHD1 | https://www.ncbi.nlm.nih.gov/books/n/gene/pkd-ar/ | Nefrológica |
| Aymé-Gripp Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/ayme-gripp/ | |
| Bachmann-Bupp Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/bachmann-bupp/ | |
| Baller-Gerold Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/bgs/ | |
| BAP1 Tumor Predisposition Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/bap1-tpds/ | Oncológica |
| Baraitser-Winter Cerebrofrontofacial Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/baraitser-winter/ | Sindrómica |
| Bardet-Biedl Syndrome Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/bbs/ | Neuropediátrica |
| Barth Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/barth/ | Nefrológica |
| BCL11A-Related Intellectual Disability | https://www.ncbi.nlm.nih.gov/books/n/gene/bcl11a-id/ | Neuropediátrica |
| Beckwith-Wiedemann Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/bws/ | Sindrómcia |
| Berardinelli-Seip Congenital Lipodystrophy | https://www.ncbi.nlm.nih.gov/books/n/gene/bscl/ | |
| Bestrophinopathies | https://www.ncbi.nlm.nih.gov/books/n/gene/bvd/ | |
| Beta-Propeller Protein-Associated Neurodegeneration | https://www.ncbi.nlm.nih.gov/books/n/gene/bpan/ | Neuropediátrica |
| Beta-Thalassemia | https://www.ncbi.nlm.nih.gov/books/n/gene/b-thal/ | Hematológica |
| Bietti Crystalline Dystrophy | https://www.ncbi.nlm.nih.gov/books/n/gene/bietti-cd/ | |
| Biotinidase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/biotin/ | Metabólica |
| Biotin-Thiamine-Responsive Basal Ganglia Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/bgd-biotin/ | Neuropediátrica |
| Birt-Hogg-Dubé Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/bhd/ | |
| Blepharophimosis, Ptosis, and Epicanthus Inversus Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/bpes/ | Sindrómica |
| Bloom Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/bloom/ | Oncológica |
| Bohring-Opitz Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/bohring-opitz/ | Sindrómica |
| Branchiooculofacial Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/bofs/ | Sindrómica |
| Branchiootorenal Spectrum Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/bor/ | Sindrómica |
| BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer | https://www.ncbi.nlm.nih.gov/books/n/gene/brca1/ | Oncológica |
| Brugada Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/brugada/ | Cardiológica |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/brylib/ | Neuropediátrica |
| BSCL2-Related Neurologic Disorders / Seipinopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/spg17/ | Neuropediátrica |
| C3 Glomerulopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/mpgn/ | Nefrológica |
| C9orf72 Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis | https://www.ncbi.nlm.nih.gov/books/n/gene/als-ftd/ | Neurológica |
| CACNA1C-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/timothy/ | Neuropediátrica |
| CADASIL | https://www.ncbi.nlm.nih.gov/books/n/gene/cadasil/ | Neuropediátrica |
| Caffey Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/caffey/ | |
| Calpainopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/lgmd2a/ | Neuropediátrica |
| Campomelic Dysplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/campo-dysp/ | Sindrómica |
| Camurati-Engelmann Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/ced/ | |
| Canavan Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/canavan/ | Neuropediátrica |
| Cantú Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/cantu/ | |
| Capillary Malformation-Arteriovenous Malformation Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/rasa1-rel-dis/ | Neuropediátrica |
| Carbonic Anhydrase VA Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/ca5a-def/ | Metabólica |
| Cardiofaciocutaneous Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/cfc/ | Sindrómica |
| Carney Complex | https://www.ncbi.nlm.nih.gov/books/n/gene/carney/ | Oncológica |
| Carnitine Palmitoyltransferase 1A Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/cpt1a/ | Metabólica |
| Carnitine Palmitoyltransferase II Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/cpt2/ | Metabólica |
| Carnitine-Acylcarnitine Translocase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/cact-def/ | Metabólica |
| Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/chh/ | Dermatológica |
| CASK Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/cask-dis/ | |
| Catecholaminergic Polymorphic Ventricular Tachycardia | https://www.ncbi.nlm.nih.gov/books/n/gene/cvt/ | Cardiológica |
| CDC73-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/hrpt2/ | |
| CDK13-Related Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/cdk13-dis/ | Neuropediátrica |
| CDKL5 Deficiency Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/cdkl5-def/ | Neuropediátrica |
| CEBPA-Associated Familial Acute Myeloid Leukemia (AML) | https://www.ncbi.nlm.nih.gov/books/n/gene/cebpa-aml/ | Oncológica |
| Celiac Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/celiac/ | Gastroenterológica |
| Cerebrotendinous Xanthomatosis | https://www.ncbi.nlm.nih.gov/books/n/gene/ctx/ | Neuropediátrica |
| Char Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/char/ | |
| Charcot-Marie-Tooth Hereditary Neuropathy Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/cmt/ | Neuropediátrica |
| CHCHD10-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/chchd10-dis/ | |
| CHD2-Related Neurodevelopmental Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/chd2-dis/ | Neuropediátrica |
| CHD4 Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/chd4-ndd/ | Neuropediátrica |
| CHD7 Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/charge/ | |
| CHD8-Related Neurodevelopmental Disorder with Overgrowth | https://www.ncbi.nlm.nih.gov/books/n/gene/chd8-ndd-og/ | Neuropediátrica |
| Chediak-Higashi Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/chediak-higashi/ | Autoinflamatorias y Inmunodeficiencias |
| Cherubism | https://www.ncbi.nlm.nih.gov/books/n/gene/cherubism/ | |
| Childhood Ataxia with Central Nervous System Hypomyelination / Vanishing White Matter | https://www.ncbi.nlm.nih.gov/books/n/gene/cach/ | Neuropediátrica |
| CHKB-Related Muscular Dystrophy | https://www.ncbi.nlm.nih.gov/books/n/gene/chkb-md/ | Neuropediátrica |
| CHMP2B Frontotemporal Dementia | https://www.ncbi.nlm.nih.gov/books/n/gene/ftd-chmp2b/ | Neurológica |
| Chondrodysplasia Punctata 1, X-Linked | https://www.ncbi.nlm.nih.gov/books/n/gene/cdp1-xlr/ | Metabólica |
| Chondrodysplasia Punctata 2, X-Linked | https://www.ncbi.nlm.nih.gov/books/n/gene/x-dcdp/ | Metabólica |
| Chondrodysplasia with Congenital Joint Dislocations, CHST3-Related | https://www.ncbi.nlm.nih.gov/books/n/gene/cd-chst3/ | |
| Choroideremia | https://www.ncbi.nlm.nih.gov/books/n/gene/choroid/ | Oftalmológica |
| Christianson Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/christianson/ | Neuropediátrica |
| Chronic Granulomatous Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/cgd/ | Autoinflamatorias y inmunodeficiencias |
| Chylomicron Retention Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/cmr/ | Metabólica |
| Citrin Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/citrin/ | Metabólica |
| Citrullinemia Type I | https://www.ncbi.nlm.nih.gov/books/n/gene/ctlm/ | Metabólica |
| Classic Ehlers-Danlos Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/eds/ | Sindrómica |
| Classic Galactosemia and Clinical Variant Galactosemia | https://www.ncbi.nlm.nih.gov/books/n/gene/galactosemia/ | Metabólica |
| Classic Isovaleric Acidemia | https://www.ncbi.nlm.nih.gov/books/n/gene/isovaleric-a/ | Metabólica |
| CLCN2-Related Leukoencephalopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/cc2-leuk/ | Neuropediátrica |
| CLCN4-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/clcn4-ndd/ | Neuropediátrica |
| CLCN7-Related Osteopetrosis | https://www.ncbi.nlm.nih.gov/books/n/gene/clcn7/ | Neuropediátrica |
| Cleidocranial Dysplasia Spectrum Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/ccd/ | Sindrómica |
| CLPB Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/clpb-def/ | |
| Cockayne Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/cockayne/ | Oncológica |
| Coffin-Siris Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/coffin-siris/ | Neuropediátrica |
| Cohen Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/cohen/ | Neuropediátrica |
| COL1A1/2 Osteogenesis Imperfecta | https://www.ncbi.nlm.nih.gov/books/n/gene/oi/ | Conectivopatía |
| COL4A1-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/col4a1-dis/ | Conectivopatía |
| Cold-Induced Sweating Syndrome Including Crisponi Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/ciss/ | Neuropediátrica |
| Collagen VI-Related Dystrophies | https://www.ncbi.nlm.nih.gov/books/n/gene/bethlem/ | Conectivopatía |
| Complete Plasminogen Activator Inhibitor 1 Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/pai-1-def/ | Hematológica |
| COMP-Related Pseudoachondroplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/psach/ | Sindrómica |
| Congenital Central Hypoventilation Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/ondine/ | Neumológica |
| Congenital Contractural Arachnodactyly | https://www.ncbi.nlm.nih.gov/books/n/gene/cca/ | Conectivopatía |
| Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia | https://www.ncbi.nlm.nih.gov/books/n/gene/df-lamm/ | Sindrómica |
| Congenital Diaphragmatic Hernia Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/cdh-ov/ | Sindrómica |
| Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/cdg/ | Metabólica |
| Congenital Dyserythropoietic Anemia Type I | https://www.ncbi.nlm.nih.gov/books/n/gene/cda1/ | Hematológica |
| Congenital Erythropoietic Porphyria | https://www.ncbi.nlm.nih.gov/books/n/gene/cep/ | Metabólica |
| Congenital Fibrosis of the Extraocular Muscles Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/cfeom/ | Oftalmológica |
| Congenital Insensitivity to Pain Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/cip-overview/ | Neuropediátrica |
| Congenital Mirror Movements | https://www.ncbi.nlm.nih.gov/books/n/gene/mirror/ | Neuropediátrica |
| Congenital Myasthenic Syndromes Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/cms/ | Neuropediátrica |
| Congenital NAD Deficiency Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/nad-def/ | |
| Congenital Stromal Corneal Dystrophy | https://www.ncbi.nlm.nih.gov/books/n/gene/csc-dys/ | Oftalmológica |
| Cornelia de Lange Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/cdls/ | Sindrómica |
| Costeff Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/mga3/ | |
| Cranioectodermal Dysplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/ce-dysp/ | Sindrómica |
| Craniometaphyseal Dysplasia, Autosomal Dominant | https://www.ncbi.nlm.nih.gov/books/n/gene/cranio-md/ | Sindrómica |
| Creatine Deficiency Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/creatine/ | Metabólica |
| CSF1R-Related Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/hdls/ | |
| CSNK2B-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/csnk2b-ndd/ | Neuropediátrica |
| CTCF-Related Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/ctcf-dis/ | |
| CTDP1-Related Congenital Cataracts, Facial Dysmorphism, and Neuropathy | https://www.ncbi.nlm.nih.gov/books/n/gene/ccfdn/ | |
| CTNNB1 Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/ctnnb1-ndd/ | |
| CYLD Cutaneous Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/cyld-cs/ | |
| Cystic Fibrosis | https://www.ncbi.nlm.nih.gov/books/n/gene/cf/ | |
| Cystinosis | https://www.ncbi.nlm.nih.gov/books/n/gene/ctns/ | |
| Cytochrome P450 Oxidoreductase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/abs/ | |
| Danon Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/danon/ | |
| DCTN1-Related Neurodegeneration | https://www.ncbi.nlm.nih.gov/books/n/gene/perry/ | |
| DCX-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/dcx/ | |
| DDX3X-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/ddx3x-ndd/ | |
| DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia | https://www.ncbi.nlm.nih.gov/books/n/gene/ddx41-mds/ | |
| Deafness and Myopia Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/dfn-myop/ | |
| Deafness-Dystonia-Optic Neuronopathy Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/ddon/ | |
| Dent Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/dent/ | |
| Deoxyguanosine Kinase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/dguok-mtddepl/ | |
| DEPDC5-Related Epilepsy | https://www.ncbi.nlm.nih.gov/books/n/gene/depdc5-epilepsy/ | |
| DFNA2 Nonsyndromic Hearing Loss | https://www.ncbi.nlm.nih.gov/books/n/gene/dfna2/ | |
| Diabetes Mellitus, 6q24-Related Transient Neonatal | https://www.ncbi.nlm.nih.gov/books/n/gene/dmtn/ | |
| Diamond-Blackfan Anemia | https://www.ncbi.nlm.nih.gov/books/n/gene/diamond-b/ | |
| Diastrophic Dysplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/diastrophic-d/ | |
| DICER1 Tumor Predisposition | https://www.ncbi.nlm.nih.gov/books/n/gene/pp-blastoma/ | |
| Dihydrolipoamide Dehydrogenase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/dld-def/ | |
| Dilated Cardiomyopathy Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/dcm-ov/ | |
| Disorders of Intracellular Cobalamin Metabolism | https://www.ncbi.nlm.nih.gov/books/n/gene/cbl/ | |
| Disorders of GNAS Inactivation | https://www.ncbi.nlm.nih.gov/books/n/gene/gnas-dis/ | |
| DLG4-Related Synaptopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/dlg4-synap/ | |
| DNAJC6 Parkinson Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/dnajc6-pd/ | |
| DNMT1-Related Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/dnmt1-ddsn/ | |
| Donnai-Barrow Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/donnai/ | |
| Dopamine Beta-Hydroxylase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/dbh/ | |
| DRPLA | https://www.ncbi.nlm.nih.gov/books/n/gene/drpla/ | |
| Duane Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/duane/ | |
| Duarte Variant Galactosemia | https://www.ncbi.nlm.nih.gov/books/n/gene/duarte-gal/ | |
| DYNC1H1-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/dync1h1-dis/ | |
| DYRK1A Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/dyrk1a-id/ | |
| Dysferlinopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/miyoshi/ | |
| Dyskeratosis Congenita and Related Telomere Biology Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/dkc/ | |
| Dystrophic Epidermolysis Bullosa | https://www.ncbi.nlm.nih.gov/books/n/gene/ebd/ | |
| Dystrophinopathies | https://www.ncbi.nlm.nih.gov/books/n/gene/dbmd/ | |
| DYT1 Early-Onset Isolated Dystonia | https://www.ncbi.nlm.nih.gov/books/n/gene/dystonia/ | |
| DYT-GNAL | https://www.ncbi.nlm.nih.gov/books/n/gene/gnal-dystonia/ | |
| EBF3 Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/ebf3-ndd/ | |
| EED-Related Overgrowth | https://www.ncbi.nlm.nih.gov/books/n/gene/eed-og/ | |
| EFEMP2-Related Cutis Laxa | https://www.ncbi.nlm.nih.gov/books/n/gene/efemp2-cutis-laxa/ | |
| ELANE-Related Neutropenia | https://www.ncbi.nlm.nih.gov/books/n/gene/cyclic-n/ | |
| El-Hattab-Alkuraya Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/el-hattab-alkuraya/ | |
| Ellis-van Creveld Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/evc/ | |
| ELN-Related Cutis Laxa | https://www.ncbi.nlm.nih.gov/books/n/gene/eln-cutis-laxa/ | |
| Emanuel Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/emanuel/ | |
| EMC10-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/emc10-ndd/ | |
| Emery-Dreifuss Muscular Dystrophy | https://www.ncbi.nlm.nih.gov/books/n/gene/edmd/ | |
| Encephalocraniocutaneous Lipomatosis | https://www.ncbi.nlm.nih.gov/books/n/gene/eccl/ | |
| Enlarged Parietal Foramina | https://www.ncbi.nlm.nih.gov/books/n/gene/msx2/ | |
| ENTPD1-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/entpd1-ndd/ | |
| EPB42-Related Hereditary Spherocytosis | https://www.ncbi.nlm.nih.gov/books/n/gene/epb42-spherocytosis/ | |
| EPG5-Related Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/epg5/ | |
| Epidermolysis Bullosa Simplex | https://www.ncbi.nlm.nih.gov/books/n/gene/ebs/ | |
| Epidermolysis Bullosa with Pyloric Atresia | https://www.ncbi.nlm.nih.gov/books/n/gene/eb-pa/ | |
| Epimerase Deficiency Galactosemia | https://www.ncbi.nlm.nih.gov/books/n/gene/gale-def/ | |
| Episodic Ataxia Type 1 | https://www.ncbi.nlm.nih.gov/books/n/gene/ea1/ | |
| Erythropoietic Protoporphyria, Autosomal Recessive | https://www.ncbi.nlm.nih.gov/books/n/gene/epp-ar/ | |
| ESCO2 Spectrum Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/rbs/ | |
| Ethylmalonic Encephalopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/ee/ | |
| ETV6 Thrombocytopenia and Predisposition to Leukemia | https://www.ncbi.nlm.nih.gov/books/n/gene/etv6-tpl/ | |
| EXOC6B-Related Spondyloepimetaphyseal Dysplasia with Joint Laxity | https://www.ncbi.nlm.nih.gov/books/n/gene/exoc6b-semd/ | |
| EXOSC3 Pontocerebellar Hypoplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/exosc3-pc-hypo-p/ | |
| EZH2-Related Overgrowth | https://www.ncbi.nlm.nih.gov/books/n/gene/weaver/ | |
| Fabry Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/fabry/ | |
| Facioscapulohumeral Muscular Dystrophy | https://www.ncbi.nlm.nih.gov/books/n/gene/fsh/ | |
| Factor V Leiden Thrombophilia | https://www.ncbi.nlm.nih.gov/books/n/gene/factor-v-leiden/ | |
| FAM111A-Related Skeletal Dysplasias | https://www.ncbi.nlm.nih.gov/books/n/gene/fam111a-dysp/ | |
| Familial Cerebral Cavernous Malformations | https://www.ncbi.nlm.nih.gov/books/n/gene/ccm/ | |
| Familial Combined Hypolipidemia | https://www.ncbi.nlm.nih.gov/books/n/gene/fch/ | |
| Familial Dysautonomia | https://www.ncbi.nlm.nih.gov/books/n/gene/fd/ | |
| Familial Hemiplegic Migraine | https://www.ncbi.nlm.nih.gov/books/n/gene/fhm/ | |
| Familial Hemophagocytic Lymphohistiocytosis | https://www.ncbi.nlm.nih.gov/books/n/gene/hlh/ | |
| Familial Hypercholesterolemia | https://www.ncbi.nlm.nih.gov/books/n/gene/hyperchol/ | |
| Familial Hyperinsulinism | https://www.ncbi.nlm.nih.gov/books/n/gene/hi/ | |
| Familial Lipoprotein Lipase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/lpl/ | |
| Familial Mediterranean Fever | https://www.ncbi.nlm.nih.gov/books/n/gene/fmf/ | |
| Familial Paroxysmal Nonkinesigenic Dyskinesia | https://www.ncbi.nlm.nih.gov/books/n/gene/pnknd/ | |
| Familial Porphyria Cutanea Tarda | https://www.ncbi.nlm.nih.gov/books/n/gene/porphyria-ct/ | |
| Fanconi Anemia | https://www.ncbi.nlm.nih.gov/books/n/gene/fa/ | |
| FARS2 Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/fars2-def/ | |
| Fatty Acid Hydroxylase-Associated Neurodegeneration | https://www.ncbi.nlm.nih.gov/books/n/gene/fahn/ | |
| FBLN5-Related Cutis Laxa | https://www.ncbi.nlm.nih.gov/books/n/gene/fbln5-cutis-laxa/ | |
| FBN1-Related Marfan Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/marfan/ | |
| FBXL4-Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/fbxl4-mtddepl/ | |
| Feingold Syndrome 1 | https://www.ncbi.nlm.nih.gov/books/n/gene/feingold/ | |
| FGFR Craniosynostosis Syndromes Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/craniosynostosis/ | |
| FGFR1-Related Hartsfield Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/hartsfield/ | |
| FH Tumor Predisposition Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/hlrcc/ | |
| Fibrodysplasia Ossificans Progressiva | https://www.ncbi.nlm.nih.gov/books/n/gene/fop/ | |
| Fibrous Dysplasia / McCune-Albright Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/mccune-albright/ | |
| FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/fkbp14-keds/ | |
| FLNA Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/x-pvh/ | |
| FLNB Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/flnb-dis/ | |
| Floating-Harbor Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/fhs/ | |
| FMR1 Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/fragilex/ | |
| FOLR1-Related Cerebral Folate Transport Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/folr1-cft-def/ | |
| FOXG1 Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/foxg1-ndd/ | |
| FOXP1 Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/foxp1/ | |
| FOXP2-Related Speech and Language Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/foxp2-sl-dis/ | |
| Free Sialic Acid Storage Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/issd/ | |
| FREM1 Autosomal Recessive Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/mota/ | |
| Friedreich Ataxia | https://www.ncbi.nlm.nih.gov/books/n/gene/friedreich/ | |
| FRMD7-Related Infantile Nystagmus | https://www.ncbi.nlm.nih.gov/books/n/gene/xl-nystag/ | |
| Fructose-1,6-Bisphosphatase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/fructose1-6-def/ | |
| Fryns Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/fryns/ | |
| Fukuyama Congenital Muscular Dystrophy | https://www.ncbi.nlm.nih.gov/books/n/gene/fcmd/ | |
| Fumarate Hydratase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/fum/ | |
| G6PC3 Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/g6pc3-def/ | |
| GAA-FGF14-Related Ataxia | https://www.ncbi.nlm.nih.gov/books/n/gene/fgf14-ataxia/ | |
| Gabriele-de Vries Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/gabriele-devries/ | |
| GAN-Related Neurodegeneration | https://www.ncbi.nlm.nih.gov/books/n/gene/gan/ | |
| GARS1-Associated Axonal Neuropathy | https://www.ncbi.nlm.nih.gov/books/n/gene/cmt2d/ | |
| GATA1-Related Cytopenia | https://www.ncbi.nlm.nih.gov/books/n/gene/gata1/ | |
| Gaucher Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/gaucher/ | |
| GBE1 Adult Polyglucosan Body Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/apbd/ | |
| GDAP1-Related Hereditary Motor and Sensory Neuropathy | https://www.ncbi.nlm.nih.gov/books/n/gene/cmt-4a/ | |
| Geleophysic Dysplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/geleophys-dysp/ | |
| Generalized Arterial Calcification of Infancy | https://www.ncbi.nlm.nih.gov/books/n/gene/gaci/ | |
| Genetic Atypical Hemolytic-Uremic Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/husa/ | |
| Genetic Hearing Loss Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/deafness-overview/ | |
| Genetic Prion Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/prion/ | |
| Genetic Steroid-Resistant Nephrotic Syndrome Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/srns-ov/ | |
| GJB1 Disorders: Charcot-Marie-Tooth Neuropathy (CMT1X) and Central Nervous System Phenotypes | https://www.ncbi.nlm.nih.gov/books/n/gene/cmtx/ | |
| GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss | https://www.ncbi.nlm.nih.gov/books/n/gene/dfnb1/ | |
| GLB1-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/gm1-ganglio/ | |
| GLI3-Related Pallister-Hall Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/phs/ | |
| Glucose Transporter Type 1 Deficiency Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/glut1/ | |
| Glutaric Acidemia Type 1 | https://www.ncbi.nlm.nih.gov/books/n/gene/glutaric-a1/ | |
| Glycogen Storage Disease Type I | https://www.ncbi.nlm.nih.gov/books/n/gene/gsd1/ | |
| Glycogen Storage Disease Type III | https://www.ncbi.nlm.nih.gov/books/n/gene/gsd3/ | |
| Glycogen Storage Disease Type IV | https://www.ncbi.nlm.nih.gov/books/n/gene/gsd4/ | |
| Glycogen Storage Disease Type V | https://www.ncbi.nlm.nih.gov/books/n/gene/gsd5/ | |
| Glycogen Storage Disease Type VI | https://www.ncbi.nlm.nih.gov/books/n/gene/gsd6/ | |
| GLYT1 Encephalopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/glyt1-dis/ | |
| GM2 Activator Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/gm2a-def/ | |
| GM3 Synthase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/gm3-def/ | |
| GNAI1-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/gnai1-ndd/ | |
| GNAO1-Related Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/gnao1-dis/ | |
| GNB1 Encephalopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/gnb1-e/ | |
| GNB5-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/gnb5-ndd/ | |
| GNE Myopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/ibm/ | |
| GNPTAB-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/ml2/ | |
| Greig Cephalopolysyndactyly Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/gcps/ | |
| GRIA2-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/gria2-ndd/ | |
| GRIN1-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/grin1-ndd/ | |
| GRIN2A-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/grin2a-dis/ | |
| GRIN2B-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/grin2b/ | |
| GRIN2D-Related Developmental and Epileptic Encephalopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/grin2d-dee/ | |
| GRN Frontotemporal Dementia | https://www.ncbi.nlm.nih.gov/books/n/gene/ftd-grn/ | |
| GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia | https://www.ncbi.nlm.nih.gov/books/n/gene/drd/ | |
| Hand-Foot-Genital Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/hfg/ | |
| Hemophilia A | https://www.ncbi.nlm.nih.gov/books/n/gene/hemo-a/ | |
| Hemophilia B | https://www.ncbi.nlm.nih.gov/books/n/gene/hemo-b/ | |
| Hepatic Veno-Occlusive Disease with Immunodeficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/vodi/ | |
| Hepatoerythropoietic Porphyria | https://www.ncbi.nlm.nih.gov/books/n/gene/hep/ | |
| Hereditary Ataxia Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/ataxias/ | |
| Hereditary Coproporphyria | https://www.ncbi.nlm.nih.gov/books/n/gene/hcp/ | |
| Hereditary Diffuse Gastric Cancer | https://www.ncbi.nlm.nih.gov/books/n/gene/hgc/ | |
| Hereditary Distal Renal Tubular Acidosis | https://www.ncbi.nlm.nih.gov/books/n/gene/hered-drta/ | |
| Hereditary Dystonia Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/dystonia-ov/ | |
| Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis | https://www.ncbi.nlm.nih.gov/books/n/gene/hfpoik-tmp/ | |
| Hereditary Folate Malabsorption | https://www.ncbi.nlm.nih.gov/books/n/gene/folate-mal/ | |
| Hereditary Fructose Intolerance | https://www.ncbi.nlm.nih.gov/books/n/gene/hfi/ | |
| Hereditary Hemorrhagic Telangiectasia | https://www.ncbi.nlm.nih.gov/books/n/gene/hht/ | |
| Hereditary Hyperekplexia Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/hyperek/ | |
| Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum | https://www.ncbi.nlm.nih.gov/books/n/gene/accpn/ | |
| Hereditary Multiple Osteochondromas | https://www.ncbi.nlm.nih.gov/books/n/gene/ext/ | |
| Hereditary Myopathy with Early Respiratory Failure | https://www.ncbi.nlm.nih.gov/books/n/gene/hmerf/ | |
| Hereditary Nephrogenic Diabetes Insipidus | https://www.ncbi.nlm.nih.gov/books/n/gene/ndi/ | |
| Hereditary Neuropathy with Liability to Pressure Palsies | https://www.ncbi.nlm.nih.gov/books/n/gene/hnpp/ | |
| Hereditary Paraganglioma-Pheochromocytoma Syndromes | https://www.ncbi.nlm.nih.gov/books/n/gene/paragangliomas/ | |
| Hereditary Sensory and Autonomic Neuropathy Type II | https://www.ncbi.nlm.nih.gov/books/n/gene/hsan2/ | |
| Hereditary Spastic Paraplegia Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/hsp/ | |
| Hereditary Transthyretin Amyloidosis | https://www.ncbi.nlm.nih.gov/books/n/gene/tfap/ | |
| Heritable Pulmonary Arterial Hypertension Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/pph/ | |
| Heritable Thoracic Aortic Disease Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/taa/ | |
| Hermansky-Pudlak Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/hps/ | |
| HEXA Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/tay-sachs/ | |
| HFE-Related Hemochromatosis | https://www.ncbi.nlm.nih.gov/books/n/gene/hemochromatosis/ | |
| Hidrotic Ectodermal Dysplasia 2 | https://www.ncbi.nlm.nih.gov/books/n/gene/ed2/ | |
| HIST1H1E Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/h1-4/ | |
| HNRNPH2-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/hnrnph2-ndd/ | |
| HNRNPU-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/hnrnpu-ndd/ | |
| Holoprosencephaly Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/hpe-overview/ | |
| Holt-Oram Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/hos/ | |
| Homocystinuria Caused by Cystathionine Beta-Synthase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/homocystinuria/ | |
| HPRT1 Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/lns/ | |
| HRAS-Related Costello Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/costello/ | |
| HTRA1 Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/carasil/ | |
| Huntington Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/huntington/ | |
| Huntington Disease-Like 2 | https://www.ncbi.nlm.nih.gov/books/n/gene/hd-l2/ | |
| Huppke-Brendel Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/huppke-brendel/ | |
| Hutchinson-Gilford Progeria Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/hgps/ | |
| HYAL2 Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/hyal2-def/ | |
| Hyaline Fibromatosis Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/sys-h/ | |
| Hyperkalemic Periodic Paralysis | https://www.ncbi.nlm.nih.gov/books/n/gene/hyper-pp/ | |
| Hypermanganesemia with Dystonia 1 | https://www.ncbi.nlm.nih.gov/books/n/gene/hmdpc/ | |
| Hypermobile Ehlers-Danlos Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/eds3/ | |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/hhhs/ | |
| Hyperphosphatemic Familial Tumoral Calcinosis | https://www.ncbi.nlm.nih.gov/books/n/gene/hyper-ftc/ | |
| Hypertrophic Cardiomyopathy Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/hyper-card/ | |
| Hypochondroplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/hypochondroplasia/ | |
| Hypohidrotic Ectodermal Dysplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/x-hed/ | |
| Hypokalemic Periodic Paralysis | https://www.ncbi.nlm.nih.gov/books/n/gene/hpp/ | |
| Hypomyelination and Congenital Cataract | https://www.ncbi.nlm.nih.gov/books/n/gene/hypo-mcc/ | |
| Hypophosphatasia | https://www.ncbi.nlm.nih.gov/books/n/gene/hops/ | |
| IMAGe Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/image/ | |
| Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia | https://www.ncbi.nlm.nih.gov/books/n/gene/ibmpfd/ | |
| Incontinentia Pigmenti | https://www.ncbi.nlm.nih.gov/books/n/gene/i-p/ | |
| INSR-Related Severe Insulin Resistance Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/insr-ir/ | |
| IPEX Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/ipex/ | |
| IRF6-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/vws/ | |
| ISCA1-Related Multiple Mitochondrial Dysfunctions Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/isca1-mmds/ | |
| ISCA2-Related Mitochondrial Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/isca2-mt-dis/ | |
| Isolated and Classic Cutis Marmorata Telangiectatica Congenita | https://www.ncbi.nlm.nih.gov/books/n/gene/cmtc/ | |
| Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/kms/ | |
| Isolated Methylmalonic Acidemia | https://www.ncbi.nlm.nih.gov/books/n/gene/mma/ | |
| Isolated Sulfite Oxidase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/iso-def/ | |
| Jervell and Lange-Nielsen Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/jln/ | |
| Joubert Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/joubert/ | |
| Junctional Epidermolysis Bullosa | https://www.ncbi.nlm.nih.gov/books/n/gene/ebj/ | |
| Juvenile Hemochromatosis | https://www.ncbi.nlm.nih.gov/books/n/gene/jh/ | |
| Juvenile Polyposis Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/jps/ | |
| Kabuki Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/kabuki/ | |
| KAT6B Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/kat6b-dis/ | |
| Kaufman Oculocerebrofacial Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/kos/ | |
| KBG Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/kbgs/ | |
| KCNK9 Imprinting Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/kcnk9-is/ | |
| KCNQ2-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/bfns/ | |
| KCNQ3-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/kcnq3-dis/ | |
| KCNT1-Related Epilepsy | https://www.ncbi.nlm.nih.gov/books/n/gene/kcnt1-epilepsy/ | |
| Kindler Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/kindler/ | |
| Kleefstra Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/kleefstra/ | |
| KMT2B-Related Dystonia | https://www.ncbi.nlm.nih.gov/books/n/gene/kmt2b-dystonia/ | |
| KMT2E-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/kmt2e-ndd/ | |
| Koolen-de Vries Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/mdel17q21_31/ | |
| KPTN-Related Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/kptn-dis/ | |
| Krabbe Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/krabbe/ | |
| L1 Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/l1cam/ | |
| Laing Distal Myopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/mpd1/ | |
| LAMA2 Muscular Dystrophy | https://www.ncbi.nlm.nih.gov/books/n/gene/mdef-cmd/ | |
| Lathosterolosis | https://www.ncbi.nlm.nih.gov/books/n/gene/lathosterolosis/ | |
| Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/lca-ov/ | |
| Leber Hereditary Optic Neuropathy | https://www.ncbi.nlm.nih.gov/books/n/gene/lhon/ | |
| Legius Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/legius/ | |
| Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation | https://www.ncbi.nlm.nih.gov/books/n/gene/lbsl/ | |
| Li-Fraumeni Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/li-fraumeni/ | |
| Lipoid Proteinosis | https://www.ncbi.nlm.nih.gov/books/n/gene/lipoid-p/ | |
| LMNA-Related Dilated Cardiomyopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/dcm-lmna/ | |
| LMNB1-Related Autosomal Dominant Leukodystrophy | https://www.ncbi.nlm.nih.gov/books/n/gene/lad-ad/ | |
| Loeys-Dietz Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/loeys-dietz/ | |
| Long QT Syndrome Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/rws/ | |
| Long-Chain Hydroxyacyl-CoA Dehydrogenase Deficiency / Trifunctional Protein Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/lchad/ | |
| Lowe Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/lowe/ | |
| LPIN2-Related Majeed Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/lpin2-majeed/ | |
| LRRK2 Parkinson Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/lrrk2/ | |
| LTBP4-Related Cutis Laxa | https://www.ncbi.nlm.nih.gov/books/n/gene/ltbp4-cutis-laxa/ | |
| Lymphedema-Distichiasis Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/lds/ | |
| Lynch Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/hnpcc/ | |
| Lysinuric Protein Intolerance | https://www.ncbi.nlm.nih.gov/books/n/gene/lpi/ | |
| Lysosomal Acid Lipase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/lal-def/ | |
| LZTR1- and SMARCB1-Related Schwannomatosis | https://www.ncbi.nlm.nih.gov/books/n/gene/schwann/ | |
| Malignant Hyperthermia Susceptibility | https://www.ncbi.nlm.nih.gov/books/n/gene/mhs/ | |
| Mandibulofacial Dysostosis with Microcephaly | https://www.ncbi.nlm.nih.gov/books/n/gene/mf-dys-mic/ | |
| Maple Syrup Urine Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/msud/ | |
| MAPT-Related Frontotemporal Dementia | https://www.ncbi.nlm.nih.gov/books/n/gene/ftdp-17/ | |
| Marinesco-Sjögren Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/mss/ | |
| Maternal 15q Duplication Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/dup15q/ | |
| Maturity-Onset Diabetes of the Young Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/mody-ov/ | |
| MBD5 Haploinsufficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/mbd5-dis/ | |
| MBTPS1-Related Spondyloepimetaphyseal Dysplasia with Elevated Lysosomal Enzymes | https://www.ncbi.nlm.nih.gov/books/n/gene/mbtps1-semd/ | |
| McKusick-Kaufman Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/mkks/ | |
| McLeod Neuroacanthocytosis Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/mcleod/ | |
| MECP2 Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/rett/ | |
| MECP2 Duplication Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/mecp2-dup/ | |
| MECR-Related Neurologic Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/mecr-dis/ | |
| MED12-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/fg/ | |
| Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/mcad/ | |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/mmihs-ov/ | |
| Megalencephalic Leukoencephalopathy with Subcortical Cysts | https://www.ncbi.nlm.nih.gov/books/n/gene/mlc/ | |
| MELAS | https://www.ncbi.nlm.nih.gov/books/n/gene/melas/ | |
| MERRF | https://www.ncbi.nlm.nih.gov/books/n/gene/merrf/ | |
| MFN2 Hereditary Motor and Sensory Neuropathy | https://www.ncbi.nlm.nih.gov/books/n/gene/cmt2a/ | |
| Microcephalic Osteodysplastic Primordial Dwarfism Type II | https://www.ncbi.nlm.nih.gov/books/n/gene/mopd2/ | |
| Microcephaly-Capillary Malformation Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/miccap-ms/ | |
| Microphthalmia with Linear Skin Defects Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/microph-lsd/ | |
| MID1-Related Opitz G/BBB Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/opitz/ | |
| Milroy Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/milroy/ | |
| MIRAGE Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/mirage/ | |
| Mitochondrial DNA Maintenance Defects Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/mtdna-md-ov/ | |
| Mitochondrial DNA-Associated Leigh Syndrome Spectrum | https://www.ncbi.nlm.nih.gov/books/n/gene/narp/ | |
| Mitochondrial Membrane Protein-Associated Neurodegeneration | https://www.ncbi.nlm.nih.gov/books/n/gene/mt-mpan/ | |
| Mitochondrial Neurogastrointestinal Encephalopathy Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/mngie/ | |
| Mitochondrial Short-Chain Enoyl-CoA Hydratase 1 Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/echs1-def/ | |
| MN1 C-Terminal Truncation Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/mn1-ctt/ | |
| Molybdenum Cofactor Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/mc-def/ | |
| Monosomy 7 Predisposition Syndromes Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/monosomy7-ov/ | |
| Mowat-Wilson Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/mws/ | |
| MPPH Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/mpph/ | |
| MPV17-Related Mitochondrial DNA Maintenance Defect | https://www.ncbi.nlm.nih.gov/books/n/gene/mpv17-mtdep/ | |
| Mucolipidosis III Gamma | https://www.ncbi.nlm.nih.gov/books/n/gene/ml3c/ | |
| Mucolipidosis IV | https://www.ncbi.nlm.nih.gov/books/n/gene/ml4/ | |
| Mucopolysaccharidosis Type I | https://www.ncbi.nlm.nih.gov/books/n/gene/mps1/ | |
| Mucopolysaccharidosis Type II | https://www.ncbi.nlm.nih.gov/books/n/gene/hunter/ | |
| Mucopolysaccharidosis Type III | https://www.ncbi.nlm.nih.gov/books/n/gene/mps3/ | |
| Mucopolysaccharidosis Type IVA | https://www.ncbi.nlm.nih.gov/books/n/gene/mps4a/ | |
| Mucopolysaccharidosis Type VII | https://www.ncbi.nlm.nih.gov/books/n/gene/mps7/ | |
| Muenke Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/muenke/ | |
| Multicentric Osteolysis Nodulosis and Arthropathy | https://www.ncbi.nlm.nih.gov/books/n/gene/mona/ | |
| Multiple Acyl-CoA Dehydrogenase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/madd/ | |
| Multiple Endocrine Neoplasia Type 1 | https://www.ncbi.nlm.nih.gov/books/n/gene/men1/ | |
| Multiple Endocrine Neoplasia Type 2 | https://www.ncbi.nlm.nih.gov/books/n/gene/men2/ | |
| Multiple Endocrine Neoplasia Type 4 | https://www.ncbi.nlm.nih.gov/books/n/gene/men4/ | |
| Multiple Epiphyseal Dysplasia, Autosomal Dominant | https://www.ncbi.nlm.nih.gov/books/n/gene/edm-ad/ | |
| Multiple Sulfatase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/m-sulfatase-def/ | |
| MUTYH Polyposis | https://www.ncbi.nlm.nih.gov/books/n/gene/maps/ | |
| MYH9-Related Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/myh9/ | |
| Myhre Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/myhre/ | |
| Myotonia Congenita | https://www.ncbi.nlm.nih.gov/books/n/gene/myotonia-c/ | |
| Myotonic Dystrophy Type 1 | https://www.ncbi.nlm.nih.gov/books/n/gene/myotonic-d/ | |
| Myotonic Dystrophy Type 2 | https://www.ncbi.nlm.nih.gov/books/n/gene/myotonic-d2/ | |
| MYRF-Related Cardiac Urogenital Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/myrf-cugs/ | |
| Nail-Patella Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/nail-ps/ | |
| NDP-Related Retinopathies | https://www.ncbi.nlm.nih.gov/books/n/gene/norrie/ | |
| Nephronophthisis-Related Ciliopathies | https://www.ncbi.nlm.nih.gov/books/n/gene/nephron-ov/ | |
| Neurodegeneration with Brain Iron Accumulation Disorders Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/nbia-ov/ | |
| Neuroferritinopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/neuroferritin/ | |
| Neurofibromatosis 1 | https://www.ncbi.nlm.nih.gov/books/n/gene/nf1/ | |
| Nevoid Basal Cell Carcinoma Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/bcns/ | |
| NF2-Related Schwannomatosis | https://www.ncbi.nlm.nih.gov/books/n/gene/nf2/ | |
| NFIA-Related Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/nfia-dis/ | |
| NFIX-Related Malan Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/nfix-malan/ | |
| NGLY1-Related Congenital Disorder of Deglycosylation | https://www.ncbi.nlm.nih.gov/books/n/gene/ngly1-cddg/ | |
| Nicolaides-Baraitser Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/nbs/ | |
| Niemann-Pick Disease Type C | https://www.ncbi.nlm.nih.gov/books/n/gene/npc/ | |
| Nijmegen Breakage Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/nijmegen/ | |
| NKX2-1-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/nkx2-1-dis/ | |
| NKX6-2-Related Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/nkx6-2-spax/ | |
| Nonketotic Hyperglycinemia | https://www.ncbi.nlm.nih.gov/books/n/gene/nkh/ | |
| Nonsyndromic 46,XX Testicular Disorders/Differences of Sex Development | https://www.ncbi.nlm.nih.gov/books/n/gene/xxms/ | |
| Nonsyndromic Disorders of Testicular Development Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/gonad-dys-46xy/ | |
| Nonsyndromic Hearing Loss and Deafness, Mitochondrial | https://www.ncbi.nlm.nih.gov/books/n/gene/mt-deafness/ | |
| Nonsyndromic Retinitis Pigmentosa Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/rp-overview/ | |
| Nonsyndromic Tooth Agenesis Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/tooth-agenesis-ov/ | |
| Noonan Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/noonan/ | |
| Noonan Syndrome with Multiple Lentigines | https://www.ncbi.nlm.nih.gov/books/n/gene/leopard/ | |
| NOTCH3-Related Lateral Meningocele Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/lms/ | |
| NR0B1-Related Adrenal Hypoplasia Congenita | https://www.ncbi.nlm.nih.gov/books/n/gene/ahc/ | |
| NR2F1-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/nr2f1-ndd/ | |
| NSDHL-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/nsdhl-dis/ | |
| NTHL1 Tumor Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/nthl1-ts/ | |
| NTRK1 Congenital Insensitivity to Pain with Anhidrosis | https://www.ncbi.nlm.nih.gov/books/n/gene/hsan4/ | |
| Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/leigh-nucl-ov/ | |
| Oculocutaneous Albinism and Ocular Albinism Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/oca-oa-ov/ | |
| Oculocutaneous Albinism Type 4 | https://www.ncbi.nlm.nih.gov/books/n/gene/oca4/ | |
| Oculopharyngeal Muscular Dystrophy | https://www.ncbi.nlm.nih.gov/books/n/gene/opmd/ | |
| Okur-Chung Neurodevelopmental Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/okur-chung/ | |
| Oral-Facial-Digital Syndrome Type I | https://www.ncbi.nlm.nih.gov/books/n/gene/ofd1/ | |
| Ornithine Transcarbamylase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/otc-def/ | |
| Osteoglophonic Dysplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/og-dysp/ | |
| Osteopathia Striata with Cranial Sclerosis | https://www.ncbi.nlm.nih.gov/books/n/gene/os-cs/ | |
| OTOF-Related Deafness | https://www.ncbi.nlm.nih.gov/books/n/gene/dfnb9/ | |
| Pachyonychia Congenita | https://www.ncbi.nlm.nih.gov/books/n/gene/pc/ | |
| PACS1 Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/pacs1-ndd/ | |
| PAFAH1B1-Related Lissencephaly / Subcortical Band Heterotopia | https://www.ncbi.nlm.nih.gov/books/n/gene/chrom17-lis/ | |
| Pancreatitis Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/pancreatitis-ov/ | |
| Pantothenate Kinase-Associated Neurodegeneration | https://www.ncbi.nlm.nih.gov/books/n/gene/pkan/ | |
| Parkin Type of Early-Onset Parkinson Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/jpd/ | |
| Parkinson Disease Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/parkinson-overview/ | |
| PAX2-Related Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/papr/ | |
| PAX6-Related Aniridia | https://www.ncbi.nlm.nih.gov/books/n/gene/aniridia/ | |
| Pediatric Genetic Cholestatic Liver Disease Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/chol-liver-ov/ | |
| Pelizaeus-Merzbacher-Like Disease 1 | https://www.ncbi.nlm.nih.gov/books/n/gene/pmld1/ | |
| Pendred Syndrome / Nonsyndromic Enlarged Vestibular Aqueduct | https://www.ncbi.nlm.nih.gov/books/n/gene/pendred/ | |
| Periodontal Ehlers-Danlos Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/eds-pd/ | |
| Permanent Neonatal Diabetes Mellitus | https://www.ncbi.nlm.nih.gov/books/n/gene/dmn/ | |
| Perrault Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/perrault/ | |
| Peters Plus Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/peters-plus/ | |
| Peutz-Jeghers Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/pjs/ | |
| Phelan-McDermid Syndrome-SHANK3 Related | https://www.ncbi.nlm.nih.gov/books/n/gene/gr_22q13_3/ | |
| Phenylalanine Hydroxylase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/pku/ | |
| Phosphoribosylpyrophosphate Synthetase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/arts/ | |
| Phosphoribosylpyrophosphate Synthetase Superactivity | https://www.ncbi.nlm.nih.gov/books/n/gene/prs/ | |
| Phosphorylase Kinase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/gsd9/ | |
| PI4KA-Related Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/pi4ka/ | |
| PIK3CA-Related Overgrowth Spectrum | https://www.ncbi.nlm.nih.gov/books/n/gene/pik3ca-overgrowth/ | |
| PINK1 Type of Young-Onset Parkinson Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/pink1-pd/ | |
| Pitt-Hopkins Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/pitt-hopkins/ | |
| PLA2G6-Associated Neurodegeneration | https://www.ncbi.nlm.nih.gov/books/n/gene/inad/ | |
| PLOD1-Related Kyphoscoliotic Ehlers-Danlos Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/eds6/ | |
| PLP1 Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/pmd/ | |
| PLPBP Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/plpbp-def/ | |
| PMM2-CDG | https://www.ncbi.nlm.nih.gov/books/n/gene/cdg-1a/ | |
| PNPLA6 Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/pnpla6-dis/ | |
| PNPO Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/pnpo-def/ | |
| Poikiloderma with Neutropenia | https://www.ncbi.nlm.nih.gov/books/n/gene/poikiloderma-n/ | |
| POLG-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/alpers/ | |
| POLR3-Related Leukodystrophy | https://www.ncbi.nlm.nih.gov/books/n/gene/pol3-leuk/ | |
| Polycystic Kidney Disease, Autosomal Dominant | https://www.ncbi.nlm.nih.gov/books/n/gene/pkd-ad/ | |
| Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/plosl/ | |
| Pompe Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/gsd2/ | |
| PORCN-Related Developmental Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/focal-dh/ | |
| POT1 Tumor Predisposition | https://www.ncbi.nlm.nih.gov/books/n/gene/pot1-tpd/ | |
| Potocki-Lupski Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/potocki-lupski/ | |
| PPP1R12A-Related Urogenital and/or Brain Malformation Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/ppp1r12a-ubm/ | |
| PPP2R1A-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/ppp2r1a-ndd/ | |
| PPP2R5D-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/ppp2r5d-dis/ | |
| Prader-Willi Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/pws/ | |
| PRICKLE1-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/me-ataxia/ | |
| Primary Ciliary Dyskinesia | https://www.ncbi.nlm.nih.gov/books/n/gene/pcd/ | |
| Primary Coenzyme Q10 Deficiency Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/coq10-def/ | |
| Primary Congenital Glaucoma | https://www.ncbi.nlm.nih.gov/books/n/gene/glc/ | |
| Primary Familial and Congenital Polycythemia | https://www.ncbi.nlm.nih.gov/books/n/gene/pfcp/ | |
| Primary Familial Brain Calcification | https://www.ncbi.nlm.nih.gov/books/n/gene/bgc/ | |
| Primary Hyperoxaluria Type 1 | https://www.ncbi.nlm.nih.gov/books/n/gene/ph1/ | |
| Primary Hyperoxaluria Type 2 | https://www.ncbi.nlm.nih.gov/books/n/gene/ph2/ | |
| Primary Hyperoxaluria Type 3 | https://www.ncbi.nlm.nih.gov/books/n/gene/ph3/ | |
| Primary Mitochondrial Disorders Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/mt-overview/ | |
| Primary Pyruvate Dehydrogenase Complex Deficiency Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/pdhc-def-ov/ | |
| Primary Trimethylaminuria | https://www.ncbi.nlm.nih.gov/books/n/gene/trimethylaminuria/ | |
| Primrose Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/primrose/ | |
| Progressive Myoclonic Epilepsy Type 1 | https://www.ncbi.nlm.nih.gov/books/n/gene/epm1/ | |
| Progressive Myoclonus Epilepsy, Lafora Type | https://www.ncbi.nlm.nih.gov/books/n/gene/lafora/ | |
| Progressive Pseudorheumatoid Dysplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/ppr-dysp/ | |
| Prolidase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/prolidase-def/ | |
| PROP1-Related Combined Pituitary Hormone Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/prop1/ | |
| Propionic Acidemia | https://www.ncbi.nlm.nih.gov/books/n/gene/propionic-a/ | |
| Proteus Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/proteus/ | |
| Prothrombin Thrombophilia | https://www.ncbi.nlm.nih.gov/books/n/gene/ptt/ | |
| PRRT2-Related Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/prrt2-parox/ | |
| PRSS1-Related Hereditary Pancreatitis | https://www.ncbi.nlm.nih.gov/books/n/gene/prss1-hp/ | |
| Pseudohypoaldosteronism Type II | https://www.ncbi.nlm.nih.gov/books/n/gene/pha2/ | |
| Pseudoxanthoma Elasticum | https://www.ncbi.nlm.nih.gov/books/n/gene/pxe/ | |
| PTEN Hamartoma Tumor Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/phts/ | |
| Pulmonary Fibrosis Predisposition Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/pf/ | |
| PURA-Related Neurodevelopmental Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/pura-dis/ | |
| Pycnodysostosis | https://www.ncbi.nlm.nih.gov/books/n/gene/pycnodys/ | |
| Pyridoxine-Dependent Epilepsy – ALDH7A1 | https://www.ncbi.nlm.nih.gov/books/n/gene/pds/ | |
| Pyruvate Carboxylase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/pdc/ | |
| RAB18 Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/rab18-def/ | |
| RERE-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/rere-dis/ | |
| Retinal Vasculopathy with Cerebral Leukoencephalopathy and Systemic Manifestations | https://www.ncbi.nlm.nih.gov/books/n/gene/rvcl/ | |
| Retinoblastoma | https://www.ncbi.nlm.nih.gov/books/n/gene/retinoblastoma/ | |
| RFC1 CANVAS / Spectrum Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/rfc1-canvas/ | |
| Rhabdoid Tumor Predisposition Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/rtps/ | |
| Rhizomelic Chondrodysplasia Punctata Type 1 | https://www.ncbi.nlm.nih.gov/books/n/gene/rcdp/ | |
| Riboflavin Transporter Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/riboflavin-tn/ | |
| Ritscher-Schinzel Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/ritscher-schinzel/ | |
| RNU4atac-opathy | https://www.ncbi.nlm.nih.gov/books/n/gene/rnu4atac-dis/ | |
| ROR2-Related Robinow Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/rob/ | |
| Rothmund-Thomson Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/rts/ | |
| Rotor Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/rotor/ | |
| RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy | https://www.ncbi.nlm.nih.gov/books/n/gene/rpe65-lca/ | |
| RPS6KA3-Related Intellectual Disability | https://www.ncbi.nlm.nih.gov/books/n/gene/cls/ | |
| RRM2B Mitochondrial DNA Maintenance Defects | https://www.ncbi.nlm.nih.gov/books/n/gene/rrm2b-mtddepl/ | |
| Rubinstein-Taybi Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/rsts/ | |
| RUNX1 Familial Platelet Disorder with Associated Myeloid Malignancies | https://www.ncbi.nlm.nih.gov/books/n/gene/runx1/ | |
| Saethre-Chotzen Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/scs/ | |
| Salih Myopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/salih-myo/ | |
| SALL1-Related Townes-Brocks Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/tbs/ | |
| SALL4-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/drrs/ | |
| SAMD9L Ataxia-Pancytopenia Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/samd9l-ap/ | |
| Sandhoff Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/sandhoff/ | |
| SATB2-Associated Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/satb2-dis/ | |
| Saul-Wilson Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/saul-wilson/ | |
| SCARB2-Related Action Myoclonus – Renal Failure Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/amrf/ | |
| Schaaf-Yang Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/schaaf-yang/ | |
| Schimke Immunoosseous Dysplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/siod/ | |
| Schinzel-Giedion Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/schinzel-giedion/ | |
| Schmid Metaphyseal Chondrodysplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/schmid-mcd/ | |
| SCN1A Seizure Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/gefs/ | |
| SCN3A-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/scn3a-ndd/ | |
| SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/scn8a-ee/ | |
| SCN9A Neuropathic Pain Syndromes | https://www.ncbi.nlm.nih.gov/books/n/gene/etha/ | |
| Sepiapterin Reductase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/spr-def/ | |
| SERAC1 Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/megdel/ | |
| Serine Deficiency Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/serine-def/ | |
| SETBP1 Haploinsufficiency Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/setbp1-hd/ | |
| SETD1B-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/setd1b-ndd/ | |
| SETD2 Neurodevelopmental Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/setd2-ndd/ | |
| SGCE Myoclonus-Dystonia | https://www.ncbi.nlm.nih.gov/books/n/gene/myo-dystonia/ | |
| SH3TC2-Related Hereditary Motor and Sensory Neuropathy | https://www.ncbi.nlm.nih.gov/books/n/gene/cmt4c/ | |
| SHORT Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/short/ | |
| Short-Chain Acyl-CoA Dehydrogenase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/scad/ | |
| SHOX Deficiency Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/lwd/ | |
| Shprintzen-Goldberg Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/sgs/ | |
| Shwachman-Diamond Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/sds/ | |
| Sickle Cell Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/sickle/ | |
| Silver-Russell Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/rss/ | |
| Simpson-Golabi-Behmel Syndrome Type 1 | https://www.ncbi.nlm.nih.gov/books/n/gene/sgbs/ | |
| Single Large-Scale Mitochondrial DNA Deletion Syndromes | https://www.ncbi.nlm.nih.gov/books/n/gene/kss/ | |
| Sitosterolemia | https://www.ncbi.nlm.nih.gov/books/n/gene/stsl/ | |
| SLC12A5-Related Epilepsy of Infancy with Migrating Focal Seizures | https://www.ncbi.nlm.nih.gov/books/n/gene/slc12a5-e/ | |
| SLC25A19-Related Thiamine Metabolism Dysfunction | https://www.ncbi.nlm.nih.gov/books/n/gene/amish-mcph/ | |
| SLC25A24 Fontaine Progeroid Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/slc25a24-fps/ | |
| SLC26A2-Related Atelosteogenesis | https://www.ncbi.nlm.nih.gov/books/n/gene/ao2/ | |
| SLC26A2-Related Multiple Epiphyseal Dysplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/edm/ | |
| SLC39A14 Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/slc39a14-def/ | |
| SLC39A8-CDG | https://www.ncbi.nlm.nih.gov/books/n/gene/slc39a8-cdg/ | |
| SLC6A1-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/slc6a1-ndd/ | |
| SLC6A3-Related Dopamine Transporter Deficiency Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/slc6a3-dtds/ | |
| Smith-Lemli-Opitz Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/slo/ | |
| Smith-Magenis Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/sms/ | |
| Snyder-Robinson Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/snyder-robinson/ | |
| SOST-Related Sclerosing Bone Dysplasias | https://www.ncbi.nlm.nih.gov/books/n/gene/sost/ | |
| Sotos Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/sotos/ | |
| SOX2 Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/sox2/ | |
| Spastic Paraplegia 11 | https://www.ncbi.nlm.nih.gov/books/n/gene/spg11/ | |
| Spastic Paraplegia 15 | https://www.ncbi.nlm.nih.gov/books/n/gene/spg15/ | |
| Spastic Paraplegia 3A | https://www.ncbi.nlm.nih.gov/books/n/gene/spg3a/ | |
| Spastic Paraplegia 4 | https://www.ncbi.nlm.nih.gov/books/n/gene/spg4/ | |
| Spastic Paraplegia 7 | https://www.ncbi.nlm.nih.gov/books/n/gene/spg7/ | |
| Spastic Paraplegia 8 | https://www.ncbi.nlm.nih.gov/books/n/gene/spg8/ | |
| Sphingosine Phosphate Lyase Insufficiency Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/sgpl1/ | |
| Spinal and Bulbar Muscular Atrophy | https://www.ncbi.nlm.nih.gov/books/n/gene/kennedy/ | |
| Spinal Muscular Atrophy | https://www.ncbi.nlm.nih.gov/books/n/gene/sma/ | |
| Spinal Muscular Atrophy, X-Linked Infantile | https://www.ncbi.nlm.nih.gov/books/n/gene/sma-xli/ | |
| Spinocerebellar Ataxia Type 1 | https://www.ncbi.nlm.nih.gov/books/n/gene/sca1/ | |
| Spinocerebellar Ataxia Type 10 | https://www.ncbi.nlm.nih.gov/books/n/gene/sca10/ | |
| Spinocerebellar Ataxia Type 11 | https://www.ncbi.nlm.nih.gov/books/n/gene/sca11/ | |
| Spinocerebellar Ataxia Type 13 | https://www.ncbi.nlm.nih.gov/books/n/gene/sca13/ | |
| Spinocerebellar Ataxia Type 14 | https://www.ncbi.nlm.nih.gov/books/n/gene/sca14/ | |
| Spinocerebellar Ataxia Type 17 | https://www.ncbi.nlm.nih.gov/books/n/gene/sca17/ | |
| Spinocerebellar Ataxia Type 2 | https://www.ncbi.nlm.nih.gov/books/n/gene/sca2/ | |
| Spinocerebellar Ataxia Type 20 | https://www.ncbi.nlm.nih.gov/books/n/gene/sca20/ | |
| Spinocerebellar Ataxia Type 28 | https://www.ncbi.nlm.nih.gov/books/n/gene/sca28/ | |
| Spinocerebellar Ataxia Type 3 | https://www.ncbi.nlm.nih.gov/books/n/gene/sca3/ | |
| Spinocerebellar Ataxia Type 37 | https://www.ncbi.nlm.nih.gov/books/n/gene/sca37/ | |
| Spinocerebellar Ataxia Type 38 | https://www.ncbi.nlm.nih.gov/books/n/gene/sca38/ | |
| Spinocerebellar Ataxia Type 6 | https://www.ncbi.nlm.nih.gov/books/n/gene/sca6/ | |
| Spinocerebellar Ataxia Type 7 | https://www.ncbi.nlm.nih.gov/books/n/gene/sca7/ | |
| Spinocerebellar Ataxia Type 8 | https://www.ncbi.nlm.nih.gov/books/n/gene/sca8/ | |
| Spinocerebellar Ataxia with Axonal Neuropathy Type 1 | https://www.ncbi.nlm.nih.gov/books/n/gene/scan1/ | |
| Spondylocostal Dysostosis, Autosomal Recessive | https://www.ncbi.nlm.nih.gov/books/n/gene/spondylocostal-d/ | |
| Spondylometaphyseal Dysplasia, Corner Fracture Type | https://www.ncbi.nlm.nih.gov/books/n/gene/smdcf/ | |
| SPTBN4 Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/sptbn4/ | |
| SPTLC1-Related Hereditary Sensory Neuropathy | https://www.ncbi.nlm.nih.gov/books/n/gene/hsn1/ | |
| Squalene Synthase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/ss-def/ | |
| STAC3 Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/stac3-dis/ | |
| STAT3 Hyper IgE Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/higes/ | |
| Stickler Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/stickler/ | |
| STRC-Related Autosomal Recessive Hearing Loss | https://www.ncbi.nlm.nih.gov/books/n/gene/strc-hearing-loss/ | |
| Strømme Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/stromme/ | |
| STXBP1 Encephalopathy with Epilepsy | https://www.ncbi.nlm.nih.gov/books/n/gene/stxbp1-ee/ | |
| Succinic Semialdehyde Dehydrogenase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/ssadh/ | |
| SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria | https://www.ncbi.nlm.nih.gov/books/n/gene/sucla2-def/ | |
| SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria | https://www.ncbi.nlm.nih.gov/books/n/gene/suclg1-mtddepl/ | |
| SYNE1 Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/syne1ca-ar/ | |
| SYNGAP1-Related Intellectual Disability | https://www.ncbi.nlm.nih.gov/books/n/gene/syngap1-id/ | |
| Systemic Primary Carnitine Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/cdsp/ | |
| Tangier Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/tangier/ | |
| TANGO2 Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/tango2-mea/ | |
| TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia | https://www.ncbi.nlm.nih.gov/books/n/gene/tardbp-als/ | |
| Tatton-Brown-Rahman Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/tbrs/ | |
| TBC1D24-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/tbc1d24-dis/ | |
| TECPR2-Related Hereditary Sensory and Autonomic Neuropathy with Intellectual Disability | https://www.ncbi.nlm.nih.gov/books/n/gene/tecpr2-hsan-id/ | |
| TEK-Related Venous Malformations | https://www.ncbi.nlm.nih.gov/books/n/gene/vmcm/ | |
| TET3-Related Beck-Fahrner Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/beck-fahrner/ | |
| TFR2-Related Hemochromatosis | https://www.ncbi.nlm.nih.gov/books/n/gene/tfr2/ | |
| Thanatophoric Dysplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/td/ | |
| Thiamine-Responsive Megaloblastic Anemia Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/trma/ | |
| THOC6 Intellectual Disability Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/thoc6-id/ | |
| Three M Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/gr_3ms/ | |
| Thrombocytopenia Absent Radius Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/tar/ | |
| TK2-Related Mitochondrial DNA Maintenance Defect, Myopathic Form | https://www.ncbi.nlm.nih.gov/books/n/gene/tk2-mtddepl/ | |
| TNF Receptor-Associated Periodic Fever Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/traps/ | |
| TNXB-Related Classical-Like Ehlers-Danlos Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/tnxb-eds/ | |
| TP63-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/aec/ | |
| Treacher Collins Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/tcs/ | |
| Trichohepatoenteric Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/sd-thes/ | |
| Trichorhinophalangeal Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/tps/ | |
| TRIO-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/trio-id/ | |
| TRMU Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/trmu-def/ | |
| Troyer Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/spg20/ | |
| TRPM3-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/trpm3-ndd/ | |
| TSEN54 Pontocerebellar Hypoplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/pc-hypo-p/ | |
| TUBB4A-Related Leukodystrophy | https://www.ncbi.nlm.nih.gov/books/n/gene/tubb4a-leuk/ | |
| Tuberous Sclerosis Complex | https://www.ncbi.nlm.nih.gov/books/n/gene/tuberous-sclerosis/ | |
| Tubulinopathies Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/tubulin-ov/ | |
| TXNL4A-Related Craniofacial Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/burn-mckeown/ | |
| Type II Collagen Disorders Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/collagen-2/ | |
| Tyrosine Hydroxylase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/thdrd/ | |
| Tyrosinemia Type I | https://www.ncbi.nlm.nih.gov/books/n/gene/tyrosinemia/ | |
| Udd Distal Myopathy – Tibial Muscular Dystrophy | https://www.ncbi.nlm.nih.gov/books/n/gene/udd/ | |
| UNC80 Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/unc80-def/ | |
| Urea Cycle Disorders Overview | https://www.ncbi.nlm.nih.gov/books/n/gene/ucd-overview/ | |
| Urofacial Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/urofacial/ | |
| Usher Syndrome Type I | https://www.ncbi.nlm.nih.gov/books/n/gene/usher1/ | |
| Usher Syndrome Type II | https://www.ncbi.nlm.nih.gov/books/n/gene/usher2/ | |
| Variegate Porphyria | https://www.ncbi.nlm.nih.gov/books/n/gene/porphyria-var/ | |
| Vascular Ehlers-Danlos Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/eds4/ | |
| Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/vlcad/ | |
| VLDLR Cerebellar Hypoplasia | https://www.ncbi.nlm.nih.gov/books/n/gene/vldlr-ch/ | |
| Von Hippel-Lindau Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/vhl/ | |
| von Willebrand Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/von-willebrand/ | |
| VPS13A Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/chac/ | |
| VPS13D Movement Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/vps13d-md/ | |
| VPS35-Related Parkinson Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/vps35-pd/ | |
| Waardenburg Syndrome Type I | https://www.ncbi.nlm.nih.gov/books/n/gene/ws1/ | |
| WAC-Related Intellectual Disability | https://www.ncbi.nlm.nih.gov/books/n/gene/wac-id/ | |
| WARS2 Deficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/wars2-def/ | |
| Warsaw Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/warsaw/ | |
| WAS-Related Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/was/ | |
| WDR26-Related Intellectual Disability | https://www.ncbi.nlm.nih.gov/books/n/gene/wdr26-id/ | |
| WDR62 Primary Microcephaly | https://www.ncbi.nlm.nih.gov/books/n/gene/wdr62-pm/ | |
| Weill-Marchesani Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/weill-ms/ | |
| Weiss-Kruszka Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/weiss-kruszka/ | |
| Werner Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/werner/ | |
| WFS1 Spectrum Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/wfs/ | |
| White-Sutton Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/white-sutton/ | |
| Wiedemann-Steiner Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/wiedemann-steiner/ | |
| Williams Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/williams/ | |
| Wilms Tumor Predisposition | https://www.ncbi.nlm.nih.gov/books/n/gene/wilms-ov/ | |
| Wilson Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/wilson/ | |
| Woodhouse-Sakati Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/wss/ | |
| WT1 Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/wt1-dis/ | |
| Xeroderma Pigmentosum | https://www.ncbi.nlm.nih.gov/books/n/gene/xp/ | |
| Xia-Gibbs Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/xia-gibbs/ | |
| X-Linked Acrogigantism | https://www.ncbi.nlm.nih.gov/books/n/gene/x-ag/ | |
| X-Linked Adrenoleukodystrophy | https://www.ncbi.nlm.nih.gov/books/n/gene/x-ald/ | |
| X-Linked Agammaglobulinemia | https://www.ncbi.nlm.nih.gov/books/n/gene/xla/ | |
| X-Linked Congenital Retinoschisis | https://www.ncbi.nlm.nih.gov/books/n/gene/retinoschisis/ | |
| X-Linked Congenital Stationary Night Blindness | https://www.ncbi.nlm.nih.gov/books/n/gene/csnb/ | |
| X-Linked Dystonia-Parkinsonism | https://www.ncbi.nlm.nih.gov/books/n/gene/xdp/ | |
| X-Linked Hyper IgM Syndrome | https://www.ncbi.nlm.nih.gov/books/n/gene/xlhi/ | |
| X-Linked Hypophosphatemia | https://www.ncbi.nlm.nih.gov/books/n/gene/rickets-xlh/ | |
| X-Linked Lymphoproliferative Disease | https://www.ncbi.nlm.nih.gov/books/n/gene/x-lpd/ | |
| X-Linked Myotubular Myopathy | https://www.ncbi.nlm.nih.gov/books/n/gene/mtm/ | |
| X-Linked Otopalatodigital Spectrum Disorders | https://www.ncbi.nlm.nih.gov/books/n/gene/opd/ | |
| X-Linked Protoporphyria | https://www.ncbi.nlm.nih.gov/books/n/gene/epp-xl/ | |
| X-Linked Severe Combined Immunodeficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/x-scid/ | |
| X-Linked Spondyloepiphyseal Dysplasia Tarda | https://www.ncbi.nlm.nih.gov/books/n/gene/sedt/ | |
| Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated | https://www.ncbi.nlm.nih.gov/books/n/gene/xq28-dup/ | |
| Y Chromosome Infertility | https://www.ncbi.nlm.nih.gov/books/n/gene/yci/ | |
| YIF1B-Related Neurodevelopmental Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/yif1b-ndd/ | |
| ZAP70-Related Combined Immunodeficiency | https://www.ncbi.nlm.nih.gov/books/n/gene/zap70-scid/ | |
| Zellweger Spectrum Disorder | https://www.ncbi.nlm.nih.gov/books/n/gene/pbd/ | |
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