Disorders
0-9 | A-B | C-D | E-F | G-H | I-J | K-L | M-N | O-P | Q-R | S-T | U-V | W-X | Y-Z
- Early Infantile Epileptic Encephalopathy Multi-Gene Panels
- Early-Onset Primary Dystonia (DYT1) GeneReviewOMIM
- Early-Onset Severe Reducing Body Myopathy, X-Linked OMIM
- Ectodermal Dysplasia, Anhidrotic, with T-cell Immunodeficiency OMIM
- Ectodermal Dysplasia/Skin Fragility Syndrome OMIM
- DSP-Related Ectodermal Dysplasia/Skin Fragility Syndrome OMIM
- PKP1-Related Ectodermal Dysplasia/Skin Fragility Syndrome OMIM
- Ectopia Lentis, Isolated OMIM
- Ectrodactyly OMIM
- Split-Hand/Foot Malformation 1 OMIM
- Split-Hand/Foot Malformation 3 OMIM
- Split-Hand/Foot Malformation 5 OMIM
- EFEMP2-Related Cutis Laxa GeneReviewOMIM
- Ehlers-Danlos Syndrome Type IV GeneReviewOMIM
- Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss OMIM
- Ehlers-Danlos Syndrome, Classic Type GeneReviewOMIM
- Ehlers-Danlos Syndrome, Classic Type, COL5A1-Related OMIM
- Ehlers-Danlos Syndrome Type I
- Ehlers-Danlos Syndrome Type II
- Ehlers-Danlos Syndrome, Classic Type, COL5A2-Related OMIM
- Ehlers-Danlos Syndrome Type I
- Ehlers-Danlos Syndrome Type II
- Ehlers-Danlos Syndrome, Classic Type, COL1A1-Related OMIM
- Ehlers-Danlos Syndrome, Hypermobility Type GeneReviewOMIM
- Ehlers-Danlos Syndrome, Kyphoscoliotic Form GeneReviewOMIM
- Ehlers-Danlos Syndrome Type VIA
- Nevo Syndrome
- Ehlers-Danlos Syndrome, Musculocontractural Type OMIM
- Ehlers-Danlos Syndrome, Type VII OMIM
- Ehlers-Danlos Syndrome Type VIIA OMIM
- Ehlers-Danlos Syndrome Type VIIB OMIM
- Ehlers-Danlos Syndrome Type VIIC OMIM
- ELANE-Related Neutropenia GeneReviewOMIM
- Cyclic Neutropenia OMIM
- Severe Congenital Neutropenia OMIM
- Elliptocytosis 2 OMIM
- Elliptocytosis 3 OMIM
- Ellis-van Creveld Syndrome OMIM
- EVC-Related Ellis-van Creveld Syndrome OMIM
- EVC2-Related Ellis-van Creveld Syndrome OMIM
- ELN-Related Cutis Laxa OMIM
- Emanuel Syndrome GeneReviewOMIM
- Emery-Dreifuss Muscular Dystrophy GeneReviewOMIM
- EMD-Related Emery-Dreifuss Muscular Dystrophy, X-Linked OMIM
- FHL1-Related Emery-Dreifuss Muscular Dystrophy, X-Linked OMIM
- LMNA-Related Emery-Dreifuss Muscular Dystrophy, Autosomal OMIM
- End-Stage Renal Disease, Nondiabetic, Susceptibility to OMIM
- Endocardial Fibroelastosis OMIM
- Enhanced S-Cone Syndrome OMIM
- Enlarged Parietal Foramina GeneReviewOMIM
- Parietal Foramina 1 OMIM
- Parietal Foramina 2 OMIM
- EPB42-Related Spherocytosis OMIM
- Epidermolysis Bullosa Simplex GeneReviewOMIM
- Epidermolysis Bullosa Simplex with Mottled Pigmentation OMIM
- Epidermolysis Bullosa Simplex, Dowling-Meara Type OMIM
- Epidermolysis Bullosa Simplex, Localized OMIM
- Epidermolysis Bullosa Simplex, Other Generalized OMIM
- Epidermolysis Bullosa Simplex with Migratory Circinate Erythema OMIM
- Epidermolysis Bullosa Simplex with Muscular Dystrophy OMIM
- Epidermolysis Bullosa Simplex, Ogna Type OMIM
- Epidermolysis Bullosa with Pyloric Atresia GeneReviewOMIM
- ITGA6-Related Epidermolysis Bullosa with Pyloric Atresia OMIM
- ITGB4-Related Epidermolysis Bullosa with Pyloric Atresia OMIM
- PLEC1-Related Epidermolysis Bullosa with Pyloric Atresia OMIM
- Epidermolysis Bullosa, Lethal Acantholytic OMIM
- Epidermolytic Palmoplantar Keratoderma OMIM
- Epilepsy Multi-Gene Panels
- Epilepsy with Neurodevelopmental Defects OMIM
- Epilepsy, Childhood Absence, Susceptibility to, 2 OMIM
- Epilepsy, Childhood Absence, Susceptibility to, 4 OMIM
- Epilepsy, Childhood Absence, Susceptibility to, 5 OMIM
- Epilepsy, Childhood Absence, Susceptibility to, 6 OMIM
- Epilepsy, Familial Temporal Lobe, 5 OMIM
- Epilepsy, Idiopathic Generalized, Susceptibility to, 8 OMIM
- Epilepsy, Juvenile Absence, Susceptibility to, 1 OMIM
- Epilepsy, Juvenile Absence, Susceptibility to, 2 OMIM
- Epilepsy, X-Linked, with Variable Learning Disabilities and Behavior Disorders OMIM
- Epileptic Encephalopathy, Early Infantile, 10 OMIM
- Epileptic Encephalopathy, Early Infantile, 11 OMIM
- Epileptic Encephalopathy, Early Infantile, 12 OMIM
- Epileptic Encephalopathy, Early Infantile, 13 OMIM
- Epileptic Encephalopathy, Early Infantile, 2 OMIM
- Epileptic Encephalopathy, Early Infantile, 3 OMIM
- Epileptic Encephalopathy, Early Infantile, 4 OMIM
- Epileptic Encephalopathy, Early Infantile, 5 OMIM
- Epileptic Encephalopathy, Early Infantile, 9 OMIM
- Epileptic Encephalopathy, Lennox-Gastaut Type OMIM
- Epimerase Deficiency Galactosemia GeneReviewOMIM
- Episodic Ataxia Type 1 GeneReviewOMIM
- Episodic Ataxia Type 2 GeneReviewOMIM
- Episodic Ataxia Type 5 OMIM
- Episodic Ataxia Type 6 OMIM
- Epsilon-Trimethyllysine Hydroxylase Deficiency OMIM
- Erythrocyte AMP Deaminase Deficiency OMIM
- Erythropoietic Protoporphyria, Autosomal Recessive GeneReviewOMIM
- Esophageal Atresia/Tracheoesophageal Fistula GeneReviewOMIM
- Ethylmalonic Encephalopathy OMIM
- Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis OMIM
- EZH2-Related Overgrowth GeneReviewOMIM
- EZH2-Related Weaver Syndrome OMIM
- F5-Related Budd-Chiari Syndrome OMIM
- Fabry Disease GeneReviewOMIM
- Atypical Variants of Fabry Disease
- Classic Fabry Disease
- Facioscapulohumeral Muscular Dystrophy GeneReviewOMIM
- Facioscapulohumeral Muscular Dystrophy 2 OMIM
- Factor V and Factor VIII, Combined Deficiency of OMIM
- Factor V Deficiency OMIM
- Factor VII Deficiency OMIM
- Factor X Deficiency OMIM
- Factor XI Deficiency OMIM
- Factor XII Deficiency OMIM
- Factor XIII Subunit A Deficiency OMIM
- Factor XIII Subunit B Deficiency OMIM
- Familial Acute Myeloid Leukemia (AML) with Mutated CEBPA GeneReviewOMIM
- Familial Advanced Sleep Phase Syndrome 1 OMIM
- Familial Atrial Fibrillation OMIM
- ABCC9-Related Familial Atrial Fibrillation OMIM
- GJA5-Related Familial Atrial Fibrillation OMIM
- KCNA5-Related Familial Atrial Fibrillation OMIM
- KCNE2-Related Familial Atrial Fibrillation OMIM
- KCNJ2-Related Familial Atrial Fibrillation OMIM
- KCNQ1-Related Familial Atrial Fibrillation OMIM
- Familial Atypical Mycobacteriosis, IFNGR1-Related OMIM
- Familial Atypical Mycobacteriosis, IFNGR2-Related OMIM
- Familial Atypical Mycobacteriosis, IL12B-Related OMIM
- Familial Atypical Mycobacteriosis, IL12RB1-Related OMIM
- Familial Atypical Mycobacteriosis, STAT1-Related OMIM
- Familial Atypical Mycobacteriosis, TYK2-Related OMIM
- Familial Atypical Mycobacteriosis, X-Linked 1 OMIM
- Familial Candidiasis 2 OMIM
- Familial Candidiasis 5 OMIM
- Familial Candidiasis 6 OMIM
- Familial Cerebral Cavernous Malformation GeneReviewOMIM
- Familial Cerebral Cavernous Malformation 1 OMIM
- Familial Cerebral Cavernous Malformation 2 OMIM
- Familial Cerebral Cavernous Malformation 3 OMIM
- Familial Cerebral Cavernous Malformation 4
- Familial Chloride Diarrhea OMIM
- Familial Cold Autoinflammatory Syndrome 1 OMIM
- Familial Cold Autoinflammatory Syndrome 2 OMIM
- Familial Cylindromatosis OMIM
- Familial Dysautonomia GeneReviewOMIM
- Familial Erythrocytosis 1 OMIM
- Familial Erythrocytosis 2 OMIM
- Familial Erythrocytosis 3 OMIM
- Familial Erythrocytosis 4 OMIM
- Familial Exudative Vitreoretinopathy, Autosomal Dominant GeneReviewOMIM
- FZD4-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant OMIM
- LRP5-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant OMIM
- TSPAN12-Related Familial Exudative Vitreoretinopathy, Autosomal Dominant OMIM
- Familial Febrile Seizures 3B OMIM
- Familial Hemiplegic Migraine GeneReviewOMIM
- Familial Hemiplegic Migraine 1 OMIM
- Familial Hemiplegic Migraine 2 OMIM
- Familial Hemiplegic Migraine 3 OMIM
- Familial Hemophagocytic Lymphohistiocytosis GeneReviewOMIM
- Familial Hemophagocytic Lymphohistiocytosis 1 OMIM
- Familial Hemophagocytic Lymphohistiocytosis 2 OMIM
- Familial Hemophagocytic Lymphohistiocytosis 3 OMIM
- Familial Hemophagocytic Lymphohistiocytosis 4 OMIM
- Familial Hemophagocytic Lymphohistiocytosis 5 OMIM
- Familial High Density Lipoprotein Deficiency OMIM
- ABCA1-Associated Familial High Density Lipoprotein Deficiency OMIM
- APOA1-Associated Familial High Density Lipoprotein Deficiency OMIM
- Familial Horizontal Gaze Palsy with Progressive Scoliosis OMIM
- Familial Hypercholesterolemia, Autosomal Dominant OMIM
- APOB-Related Familial Hypercholesterolemia, Autosomal Dominant OMIM
- Familial Hypercholesterolemia, Autosomal Recessive OMIM
- PCSK9-Related Familial Hypercholesterolemia, Autosomal Dominant|Familial Hypercholesterolemia, Autosomal Dominant, 3 OMIM
- Familial Hypercholesterolemia, Autosomal Recessive OMIM
- Familial Hyperinsulinism GeneReviewOMIM
- ABCC8-Related Hyperinsulinism OMIM
- GCK-Related Hyperinsulinism OMIM
- GLUD1-Related Hyperinsulinism OMIM
- HADH-Related Hyperinsulinism OMIM
- HNF4A-Related Hyperinsulinism OMIM
- KCNJ11-Related Hyperinsulinism OMIM
- Familial Hyperinsulinism Multi-Gene Panels
- Familial Hypertrophic Cardiomyopathy GeneReviewOMIM
- ACTC1-Related Familial Hypertrophic Cardiomyopathy OMIM
- ACTN2-Related Familial Hypertrophic Cardiomyopathy OMIM
- CSRP3-Related Familial Hypertrophic Cardiomyopathy OMIM
- Hypertrophic Cardiomyopathy, Midventricular, Digenic OMIM
- MYBPC3-Related Familial Hypertrophic Cardiomyopathy OMIM
- MYH6-Related Familial Hypertrophic Cardiomyopathy OMIM
- MYH7-Related Familial Hypertrophic Cardiomyopathy OMIM
- MYL2-Related Familial Hypertrophic Cardiomyopathy OMIM
- MYL3-Related Familial Hypertrophic Cardiomyopathy OMIM
- MYOZ2-Related Familial Hypertrophic Cardiomyopathy OMIM
- NEXN-Related Familial Hypertrophic Cardiomyopathy OMIM
- PLN-Related Familial Hypertrophic Cardiomyopathy OMIM
- TCAP-Related Familial Hypertrophic Cardiomyopathy OMIM
- TNNC1-Related Familial Hypertrophic Cardiomyopathy OMIM
- TNNI3-Related Familial Hypertrophic Cardiomyopathy OMIM
- TNNT2-Related Familial Hypertrophic Cardiomyopathy OMIM
- TPM1-Related Familial Hypertrophic Cardiomyopathy OMIM
- TTN-Related Familial Hypertrophic Cardiomyopathy OMIM
- Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome, PRKAG2-Related OMIM
- Familial Hypocalciuric Hypercalcemia Type 3 OMIM
- Familial Infantile Convulsions with Paroxysmal Choreoathetosis OMIM
- Familial Infantile Myoclonic Epilepsy OMIM
- Familial Isolated Hypoparathyroidism OMIM
- CASR-Related Familial Isolated Hypoparathyroidism OMIM
- GCM2-Related Familial Isolated Hypoparathyroidism OMIM
- PTH-Related Familial Isolated Hypoparathyroidism OMIM
- Familial Isolated Noncompaction of Left Ventricular Myocardium OMIM
- Familial Juvenile Hyperuricemic Nephropathy Type 2 GeneReviewOMIM
- Familial Lipoprotein Lipase Deficiency GeneReviewOMIM
- Familial Mediterranean Fever GeneReviewOMIM
- Familial Mediterranean Fever Type 1
- Familial Mediterranean Fever Type 2
- Familial Mosaic Monosomy 7 Syndrome GeneReviewOMIM
- Familial Paroxysmal Kinesigenic Dyskinesia GeneReviewOMIM
- Familial Paroxysmal Nonkinesigenic Dyskinesia GeneReviewOMIM
- Familial Partial Lipodystrophy Type 2 OMIM
- Familial Partial Lipodystrophy Type 3 OMIM
- Familial Partial Lipodystrophy Type 4 OMIM
- Familial Platelet Disorder with Propensity to Acute Myelogenous Leukemia OMIM
- Familial Pulmonary Fibrosis GeneReviewOMIM
- SFTPC-Related Familial Pulmonary Fibrosis OMIM
- TERC-Related Familial Pulmonary Fibrosis OMIM
- TERT-Related Familial Pulmonary Fibrosis OMIM
- Familial Schizencephaly, EMX2-Related OMIM
- Familial Schizencephaly, SIX3-Related OMIM
- Familial Spinal Neurofibromatosis OMIM
- Familial Thrombotic Thrombocytopenia Purpura OMIM
- Familial Transthyretin Amyloidosis GeneReviewOMIM
- Familial Amyloid Cardiomyopathy
- Familial Amyloid Polyneuropathy Type 1(Portuguese-Swedish-Japanese type)
- Familial Amyloid Polyneuropathy Type II (Indiana/Swiss or Maryland/German type)
- Familial Oculoleptomeningeal Amyloidosis
- Leptomeningeal Amyloidosis
- Fanconi Anemia GeneReviewOMIM
- BRCA2-Related Fanconi Anemia OMIM
- BRIP1-Related Fanconi Anemia OMIM
- FANCA-Related Fanconi Anemia OMIM
- FANCB-Related Fanconi Anemia OMIM
- FANCC-Related Fanconi Anemia OMIM
- FANCD2-Related Fanconi Anemia OMIM
- FANCE-Related Fanconi Anemia OMIM
- FANCF-Related Fanconi Anemia OMIM
- FANCG-Related Fanconi Anemia OMIM
- FANCI-Related Fanconi Anemia OMIM
- FANCL-Related Fanconi Anemia OMIM
- FANCM-Related Fanconi Anemia OMIM
- PALB2-Related Fanconi Anemia OMIM
- RAD51C-Related Fanconi Anemia OMIM
- SLX4-Related Fanconi Anemia OMIM
- Fanconi Anemia Multi-Gene Panels
- Fanconi-Bickel Syndrome OMIM
- Farber Lipogranulomatosis OMIM
- Fatal Infantile Lactic Acidosis OMIM
- Fatty Acid Oxidation Disorders
- Fatty Acid Oxidation Disorders Multi-Gene Panels
- Fazio-Londe Disease OMIM
- FBLN5-Related Cutis Laxa GeneReviewOMIM
- Feingold Syndrome 1 GeneReviewOMIM
- Feingold Syndrome 2 OMIM
- FGA-Related Congenital Afibrinogenemia OMIM
- FGA-Related Familial Visceral Amyloidosis OMIM
- FGB-Related Congenital Afibrinogenemia OMIM
- FGD1-Related X-Linked Mental Retardation OMIM
- FGFR-Related Craniosynostosis GeneReviewOMIM
- FGFR1-Related Craniosynostosis OMIM
- Pfeiffer Syndrome Type 1 OMIM
- FGFR2-Related Craniosynostosis OMIM
- Apert Syndrome OMIM
- Beare-Stevenson Syndrome OMIM
- Crouzon Syndrome OMIM
- FGFR2-Related Isolated Coronal Synostosis OMIM
- Jackson-Weiss Syndrome OMIM
- Pfeiffer Syndrome Type 1, 2 and 3 OMIM
- FGFR3-Related Craniosynostosis OMIM
- Crouzon Syndrome with Acanthosis Nigricans OMIM
- FGFR3-Related Isolated Coronal Synostosis OMIM
- Muenke Syndrome GeneReviewOMIM
- FGG-Related Congenital Afibrinogenemia OMIM
- Fibrochondrogenesis 1 OMIM
- Fibrochondrogenesis 2 OMIM
- Fibrodysplasia Ossificans Progressiva OMIM
- Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly OMIM
- Fibular Hypoplasia and Complex Brachydactyly OMIM
- FLNA-Related Disorders OMIM
- Chronic Idiopathic Neuronal Intestinal Pseudoobstruction, X-Linked OMIM
- FG Syndrome 2 OMIM
- FLNA-Related X-linked Cardiac Valvular Dysplasia OMIM
- Otopalatodigital Spectrum Disorders GeneReviewOMIM
- Frontometaphyseal Dysplasia OMIM
- Melnick-Needles Syndrome OMIM
- Otopalatodigital Syndrome, Type I OMIM
- Otopalatodigital Syndrome, Type II OMIM
- Periventricular Heterotopia, Ehlers-Danlos Variant OMIM
- Periventricular Heterotopia, X-Linked GeneReviewOMIM
- FLNB-Related Disorders GeneReviewOMIM
- Atelosteogenesis Type I OMIM
- Atelosteogenesis Type III OMIM
- Boomerang Dysplasia OMIM
- Larsen Syndrome OMIM
- Spondylocarpotarsal Synostosis Syndrome OMIM
- Floating-Harbor Syndrome GeneReviewOMIM
- FMR1-Related Disorders GeneReviewOMIM
- FMR1-Related Primary Ovarian Insufficiency OMIM
- Fragile X Syndrome OMIM
- Fragile X-Associated Tremor/Ataxia Syndrome OMIM
- Focal Cortical Dysplasia of Taylor OMIM
- Focal Dermal Hypoplasia GeneReviewOMIM
- Formiminotransferase Deficiency OMIM
- Foveal Hypoplasia and Presenile Cataract Syndrome OMIM
- Frank-ter Haar Syndrome OMIM
- FRAS1-Related Fraser Syndrome OMIM
- Free Sialic Acid Storage Disorders GeneReviewOMIM
- Infantile Free Sialic Acid Storage Disease
- Salla Disease OMIM
- Freeman-Sheldon Syndrome OMIM
- FREM2-Related Fraser Syndrome OMIM
- Friedreich Ataxia GeneReviewOMIM
- FRMD7-Related Infantile Nystagmus GeneReviewOMIM
- Frontonasal Dysplasia 1 OMIM
- Frontotemporal Dementia, Chromosome 3-Linked GeneReviewOMIM
- Fructose 1,6 Bisphosphatase Deficiency OMIM
- Fructosuria, Essential OMIM
- Fryns Syndrome GeneReviewOMIM
- Fucosidosis OMIM
- Fumarate Hydratase Deficiency GeneReviewOMIM