Disease Name Symbol Acronym
Fabry Disease FBR012
Facial Clefting, Oblique, 1 FCL047
Facial Dermatosis FCL001
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome FCL088
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature FCL084
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs FCL078
Facial Hemiatrophy FCL003
Facial Infiltrating Lipomatosis FCL087
Facial Nerve Disease FCL011
Facial Neuralgia FCL007
Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction FCL086
Facial Paralysis FCL012
Facial Paresis, Hereditary Congenital, 1 FCL030
Facial Paresis, Hereditary Congenital, 2 FCL050
Facial Paresis, Hereditary Congenital, 3 FCL056
Facioscapulohumeral Muscular Dystrophy 1 FCS012
Facioscapulohumeral Muscular Dystrophy 2 FCS011
Factitious Disorder FCT008
Factor V and Factor Viii, Combined Deficiency of, 1 FCT029
Factor V and Factor Viii, Combined Deficiency of, 2 FCT034
Factor V Deficiency FCT006
Factor Vii Deficiency FCT007
Factor Viii Deficiency FCT001
Factor X Deficiency FCT003
Factor Xi Deficiency FCT002
Factor Xii Deficiency FCT004
Factor Xiii Deficiency FCT005
Factor Xiii, a Subunit, Deficiency of FCT032
Factor Xiii, B Subunit, Deficiency of FCT033
Failure of Tooth Eruption, Primary FLR007
Fainting FNT004
Fallopian Tube Adenocarcinoma FLL023
Fallopian Tube Carcinoma FLL027
Fallopian Tube Carcinosarcoma FLL028
Fallopian Tube Disease FLL029
Fallopian Tube Endometrioid Adenocarcinoma FLL003
Fallopian Tube Gestational Choriocarcinoma FLL011
Fallopian Tube Squamous Cell Carcinoma FLL017
Familial Abdominal Aortic Aneurysm FML305
Familial Acute Necrotizing Encephalopathy FML258
Familial Adenomatous Polyposis FML011
Familial Adenomatous Polyposis 1 FML346
Familial Adenomatous Polyposis 2 FML347
Familial Adenomatous Polyposis 3 FML299
Familial Adenomatous Polyposis 4 FML339
Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion FML254
Familial Alzheimer-Like Prion Disease FML202
Familial Amyloidosis, Finnish Type FML249
Familial Atrial Fibrillation FML001
Familial Avascular Necrosis of the Femoral Head FML048
Familial Bilateral Striatal Necrosis FML050
Familial Calcium Pyrophosphate Deposition FML307
Familial Candidiasis FML334
Familial Cerebral Saccular Aneurysm FML206
Familial Chilblain Lupus FML337
Familial Cold Autoinflammatory Syndrome FML052
Familial Cold Autoinflammatory Syndrome 1 FML116
Familial Cold Autoinflammatory Syndrome 2 FML117
Familial Cold Autoinflammatory Syndrome 3 FML253
Familial Cold Autoinflammatory Syndrome 4 FML270
Familial Colorectal Cancer FML053
Familial Colorectal Cancer Type X FML311
Familial Deafness FML056
Familial Drusen FML292
Familial Episodic Pain Syndrome FML340
Familial Expansile Osteolysis FML345
Familial Gastric Type 1 Neuroendocrine Tumor FML335
Familial Glomangioma FML025
Familial Glucocorticoid Deficiency FML063
Familial Hemiplegic Migraine FML023
Familial Hyperaldosteronism FML156
Familial Hyperlipidemia FML035
Familial Hypertension FML187
Familial Hypocalciuric Hypercalcemia FML068
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis FML269
Familial Infantile Bilateral Striatal Necrosis FML309
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Biventricular Form FML214
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Left Dominant Form FML215
Familial Isolated Arrhythmogenic Ventricular Dysplasia, Right Dominant Form FML213
Familial Isolated Dilated Cardiomyopathy FML304
Familial Isolated Hyperparathyroidism FML075
Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland FML196
Familial Isolated Pituitary Adenoma FML168
Familial Isolated Restrictive Cardiomyopathy FML293
Familial Lcat Deficiency FML330
Familial Lipoprotein Lipase Deficiency FML026
Familial Male-Limited Precocious Puberty FML157
Familial Mediterranean Fever FML018
Familial Mediterranean Fever, Autosomal Dominant FML344
Familial Nephrotic Syndrome FML015
Familial or Sporadic Hemiplegic Migraine FML306
Familial Osteochondritis Dissecans FML169
Familial Papillary or Follicular Thyroid Carcinoma FML211
Familial Paroxysmal Nonkinesigenic Dyskinesia FML186
Familial Partial Lipodystrophy FML012
Familial Partial Lipodystrophy Due to Akt2 Mutations FML227
Familial Patent Arterial Duct FML336
Familial Periodic Paralysis FML036
Familial Pityriasis Rubra Pilaris FML348
Familial Porencephaly FML084
Familial Porphyria Cutanea Tarda FML324
Familial Primary Hypomagnesemia with Normocalciuria and Normocalcemia FML315
Familial Progressive Cardiac Conduction Defect FML250
Familial Progressive Hyperpigmentation FML313
Familial Renal Oncocytoma FML028
Familial Renal Papillary Carcinoma FML029
Familial Retinoblastoma FML008
Familial Short Qt Syndrome FML294
Familial Sick Sinus Syndrome FML272
Familial Thoracic Aortic Aneurysm and Dissection FML089
Familial Thyroid Dyshormonogenesis FML297
Familial Tumoral Calcinosis FML091
Familial Vesicoureteral Reflux FML284
Fanconi Anemia, Complementation Group a FNC027
Fanconi Anemia, Complementation Group B FNC032
Fanconi Anemia, Complementation Group C FNC044
Fanconi Anemia, Complementation Group D1 FNC024
Fanconi Anemia, Complementation Group D2 FNC042
Fanconi Anemia, Complementation Group E FNC043
Fanconi Anemia, Complementation Group F FNC045
Fanconi Anemia, Complementation Group G FNC030
Fanconi Anemia, Complementation Group I FNC029
Fanconi Anemia, Complementation Group J FNC025
Fanconi Anemia, Complementation Group L FNC028
Fanconi Anemia, Complementation Group N FNC023
Fanconi Anemia, Complementation Group O FNC048
Fanconi Anemia, Complementation Group P FNC046
Fanconi Anemia, Complementation Group Q FNC047
Fanconi Anemia, Complementation Group R FNC058
Fanconi Anemia, Complementation Group S FNC062
Fanconi Anemia, Complementation Group T FNC052
Fanconi Anemia, Complementation Group U FNC057
Fanconi Anemia, Complementation Group V FNC056
Fanconi Anemia, Complementation Group W FNC061
Fanconi Renotubular Syndrome 1 FNC026
Fanconi Renotubular Syndrome 2 FNC034
Fanconi Renotubular Syndrome 3 FNC049
Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young FNC060
Fanconi Syndrome FNC004
Fanconi-Bickel Syndrome FNC009
Fanconi-Like Syndrome FNC059
Far Eastern Spotted Fever FRS001
Farber Lipogranulomatosis FRB001
Farmer's Lung FRM003
Fars2 Deficiency FRS020
Farsightedness FRS019
Fasciitis FSC004
Fascioliasis FSC002
Fasciolopsiasis FSC003
Fasting Hypoglycemia FST010
Fasting Insulin Level Quantitative Trait Locus 1 FST003
Fasting Plasma Glucose Level Quantitative Trait Locus 1 FST012
Fasting Plasma Glucose Level Quantitative Trait Locus 2 FST013
Fasting Plasma Glucose Level Quantitative Trait Locus 3 FST014
Fasting Plasma Glucose Level Quantitative Trait Locus 4 FST016
Fasting Plasma Glucose Level Quantitative Trait Locus 5 FST017
Fasting Plasma Glucose Level Quantitative Trait Locus 6 FST015
Fastkd2-Related Infantile Mitochondrial Encephalomyopathy FST011
Fatal Familial Insomnia FTL002
Fatal Infantile Cardioencephalomyopathy Due to Cytochrome C Oxidase Deficiency FTL068
Fatal Infantile Hypertonic Myofibrillar Myopathy FTL045
Fatal Post-Viral Neurodegenerative Disorder FTL051
Fatty Liver Disease FTT001
Fatty Liver Disease, Nonalcoholic 1 FTT008
Fatty Liver Disease, Nonalcoholic 2 FTT007
Fazio-Londe Disease FZL002
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome FBL015
Febrile Infection-Related Epilepsy Syndrome FBR064
Febrile Seizures FBR031
Febrile Seizures, Familial, 1 FBR073
Febrile Seizures, Familial, 10 FBR068
Febrile Seizures, Familial, 11 FBR072
Febrile Seizures, Familial, 2 FBR075
Febrile Seizures, Familial, 4 FBR069
Febrile Seizures, Familial, 5 FBR071
Febrile Seizures, Familial, 6 FBR074
Febrile Seizures, Familial, 7 FBR076
Febrile Seizures, Familial, 9 FBR067
Feingold Syndrome 1 FNG006
Feingold Syndrome 2 FNG009
Felty Syndrome FLT011
Female Breast Cancer FML037
Female Infertility Due to Oocyte Meiotic Arrest FML343
Female Infertility Due to Zona Pellucida Defect FML266
Female Reproductive Endometrioid Cancer FML005
Female Reproductive System Disease FML039
Female Stress Incontinence FML031
Female Urethral Cancer FML040
Femoral Agenesis/hypoplasia FMR013
Femoral Neuropathy FMR003
Ferro-Cerebro-Cutaneous Syndrome FRR002
Fetal Adenoma FTL005
Fetal Akinesia Deformation Sequence 1 FTL069
Fetal Akinesia Deformation Sequence 2 FTL070
Fetal Akinesia Deformation Sequence 3 FTL071
Fetal Akinesia Deformation Sequence 4 FTL072
Fetal Alcohol Spectrum Disorder FTL006
Fetal Alcohol Syndrome FTL001
Fetal and Neonatal Alloimmune Thrombocytopenia FTL012
Fetal Erythroblastosis FTL004
Fetal Hemoglobin Quantitative Trait Locus 1 FTL033
Fetal Hemoglobin Quantitative Trait Locus 2 FTL036
Fetal Hemoglobin Quantitative Trait Locus 3 FTL035
Fetal Hemoglobin Quantitative Trait Locus 4 FTL034
Fetal Hemoglobin Quantitative Trait Locus 5 FTL065
Fetal Hemoglobin Quantitative Trait Locus 6 FTL067
Fetal Hydantoin Syndrome FTL007
Fetal Macrosomia FTL021
Fetishism FTS001
Fg Syndrome 2 FGS002
Fg Syndrome 3 FGS003
Fg Syndrome 4 FGS004
Fg Syndrome 5 FGS006
Fgfr-Related Craniosynostosis Syndromes FGF001
Fibrillary Astrocytoma FBR008
Fibrinolytic Defect FBR052
Fibroblastic Rheumatism FBR091
Fibrochondrogenesis FBR025
Fibrochondrogenesis 1 FBR029
Fibrochondrogenesis 2 FBR030
Fibrodysplasia Ossificans Progressiva FBR011
Fibroepithelial Basal Cell Carcinoma FBR015
Fibrogenesis Imperfecta Ossium FBR010
Fibrolamellar Carcinoma FBR086
Fibroma FBR054
Fibromatosis FBR019
Fibromatosis, Gingival, 1 FBR084
Fibromatosis, Gingival, 2 FBR079
Fibromatosis, Gingival, 3 FBR077
Fibromatosis, Gingival, 4 FBR080
Fibromatosis, Gingival, 5 FBR092
Fibromuscular Dysplasia FBR032
Fibromyalgia FBR047
Fibroosseous Pseudotumor of Digits FBR007
Fibrosarcoma FBR017
Fibrosarcoma of Bone FBR002
Fibrosarcomatous Osteosarcoma FBR013
Fibrosclerosis of Breast FBR016
Fibrosis of Extraocular Muscles, Congenital, 1 FBR046
Fibrosis of Extraocular Muscles, Congenital, 2 FBR050
Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement FBR094
Fibrosis of Extraocular Muscles, Congenital, 5 FBR078
Fibrosis, Neurodegeneration, and Cerebral Angiomatosis FBR097
Fibrous Dysplasia FBR009
Fibrous Dysplasia/mccune-Albright Syndrome FBR083
Fibrous Histiocytoma FBR003
Fibrous Meningioma FBR001
Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly FBL008
Fibular Hypoplasia and Complex Brachydactyly FBL002
Ficolin 3 Deficiency FCL083
Fiedler's Myocarditis FDL001
Filamentary Keratitis FLM001
Filarial Elephantiasis FLR001
Filariasis FLR002
Filippi Syndrome FLP001
Finger Agnosia FNG001
First-Degree Atrioventricular Block FRS012
Fish Allergy FSH003
Fish-Eye Disease FSH001
Fissured Tongue FSS001
Fitzsimmons Syndrome FTZ003
Fitzsimmons-Guilbert Syndrome FTZ005
Fixed Drug Eruption FXD003
Fleck Retina, Familial Benign FLC002
Flinders Island Spotted Fever FLN001
Flna-Related Periventricular Nodular Heterotopia FLN007
Flnb-Related Disorders FLN002
Floating-Harbor Syndrome FLT006
Flucloxacilline Toxicity FLC003
Flying Phobia FLY001
Fmr1-Related Disorders FMR005
Focal Chorioretinitis FCL013
Focal Cortical Dysplasia, Type Ii FCL081
Focal Dermal Hypoplasia FCL009
Focal Dystonia FCL022
Focal Epilepsy FCL014
Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation FCL062
Focal Epithelial Hyperplasia FCL010
Focal Facial Dermal Dysplasia FCL023
Focal Facial Dermal Dysplasia 3, Setleis Type FCL045
Focal Facial Dermal Dysplasia 4 FCL046
Focal Hand Dystonia FCL049
Focal Myositis FCL041
Focal Segmental Glomerulosclerosis FCL005
Focal Segmental Glomerulosclerosis 1 FCL025
Focal Segmental Glomerulosclerosis 2 FCL026
Focal Segmental Glomerulosclerosis 3 FCL027
Focal Segmental Glomerulosclerosis 4 FCL082
Focal Segmental Glomerulosclerosis 5 FCL028
Focal Segmental Glomerulosclerosis 6 FCL043
Focal Segmental Glomerulosclerosis 7 FCL085
Focal Segmental Glomerulosclerosis 8 FCL053
Focal Segmental Glomerulosclerosis 9 FCL055
Folate Malabsorption, Hereditary FLT009
Folic Acid Deficiency Anemia FLC001
Folinic Acid-Responsive Seizures FLN005
Follicular Adenoma FLL031
Follicular Dendritic Cell Sarcoma FLL013
Follicular Infundibulum Tumor FLL020
Follicular Lymphoma FLL037
Follicular Lymphoma 1 FLL041
Follicular Mucinosis FLL019
Folliculitis FLL008
Folliculotropic Mycosis Fungoides FLL042
Fontaine Progeroid Syndrome FNT005
Food Allergy FDL002
Foodborne Botulism FDB001
Foot Drop FTD001
Foramen Magnum Meningioma FRM004
Form Agnosia FRM002
Forsythe-Wakeling Syndrome FRS010
Fournier Gangrene FRN014
Fourth Cranial Nerve Palsy FRT001
Foveal Hypoplasia 1 FVL006
Foveal Hypoplasia 2 FVL008
Fox-Fordyce Disease FXF002
Foxg1 Syndrome FXG001
Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) FRG013
Fragile X Syndrome FRG001
Fragile X Tremor/ataxia Syndrome FRG010
Fragile X-Associated Tremor/ataxia Syndrome FRG008
Frank-Ter Haar Syndrome FRN039
Fraser Syndrome 1 FRS014
Fraser Syndrome 2 FRS016
Fraser Syndrome 3 FRS015
Frasier Syndrome FRS002
Fraxf Syndrome FRX003
Free Sialic Acid Storage Disorders FRS004
Freemartinism FRM001
Frias Syndrome FRS007
Friedreich Ataxia 1 FRD012
Friedreich Ataxia 2 FRD006
Frontal Convexity Meningioma FRN003
Frontal Fibrosing Alopecia FRN020
Frontal Sinus Cancer FRN009
Frontal Sinus Inverted Papilloma FRN004
Frontal Sinus Neoplasm FRN010
Frontal Sinus Squamous Cell Carcinoma FRN005
Frontal Sinusitis FRN011
Frontometaphyseal Dysplasia FRN012
Frontometaphyseal Dysplasia 1 FRN049
Frontometaphyseal Dysplasia 2 FRN048
Frontonasal Dysplasia 1 FRN036
Frontonasal Dysplasia 2 FRN033
Frontonasal Dysplasia 3 FRN032
Frontotemporal Dementia FRN006
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 FRN044
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 FRN040
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 FRN043
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 FRN045
Frontotemporal Dementia, Chromosome 3-Linked FRN013
Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related FRN051
Frozen Shoulder FRZ001
Fructose Intolerance, Hereditary FRC011
Fructose Utilization FRC013
Fructose-1,6-Bisphosphatase Deficiency FRC001
Fructosuria, Essential FRC005
Fruit Allergy FRT005
Fryns Microphthalmia Syndrome FRY006
Fryns Syndrome FRY002
Fuchs' Endothelial Dystrophy FCH001
Fuchs' Heterochromic Uveitis FCH002
Fucosidosis FCS002
Fucosyltransferase 6 Deficiency FCS013
Fumarase Deficiency FMR004
Fumarate Hydratase Deficiency FMR011
Functional Colonic Disease FNC005
Functional Diarrhea FNC002
Functional Gastric Disease FNC006
Functioning Pituitary Adenoma FNC007
Functionless Pituitary Adenoma FNC003
Fundus Albipunctatus FND001
Fundus Dystrophy FND002
Fungal Esophagitis FNG003
Fungal Keratitis FNG016
Fungal Meningitis FNG004
Funisitis FNS001
Fusariosis FSR001
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