Disease Name Symbol Acronym
Fabry Disease FBR012 FD
Facial Cleft FCL090
Facial Clefting, Oblique, 1 FCL047 OBLFC1
Facial Dermatosis FCL001
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/developmental Delay, and Gingival Overgrowth Syndrome FCL088 FHEIG
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature FCL084 FILS
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, and Spontaneous Filtering Blebs FCL078 FDLAB
Facial Hemiatrophy FCL003
Facial Infiltrating Lipomatosis FCL087
Facial Nerve Disease FCL011
Facial Neuralgia FCL007
Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction FCL086 FPVEPD
Facial Paralysis FCL012
Facial Paresis, Hereditary Congenital, 1 FCL030 HCFP1
Facial Paresis, Hereditary Congenital, 2 FCL050 HCFP2
Facial Paresis, Hereditary Congenital, 3 FCL056 HCFP3
Facioscapulohumeral Muscular Dystrophy 1 FCS012 FSHD1
Facioscapulohumeral Muscular Dystrophy 2 FCS011 FSHD2
Factitious Disorder FCT008
Factor V and Factor Viii, Combined Deficiency of, 1 FCT029 F5F8D1
Factor V and Factor Viii, Combined Deficiency of, 2 FCT034 F5F8D2
Factor V Deficiency FCT006 FA5D
Factor V Leiden Thrombophilia FCT013
Factor Vii Deficiency FCT007 FA7D
Factor Viii Deficiency FCT001
Factor X Deficiency FCT003 FA10D
Factor Xi Deficiency FCT002 FA11D
Factor Xii Deficiency FCT004 FA12D
Factor Xiii Deficiency FCT005
Factor Xiii, a Subunit, Deficiency of FCT032 FA13AD
Factor Xiii, B Subunit, Deficiency of FCT033 FA13BD
Failure of Tooth Eruption, Primary FLR007 PFE
Fainting FNT004
Fallopian Tube Adenocarcinoma FLL023
Fallopian Tube Adenofibroma FLL024
Fallopian Tube Benign Neoplasm FLL025
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 ADANE
Familial Adenomatous Polyposis FML011 FAP
Familial Adenomatous Polyposis 1 FML346 FAP1
Familial Adenomatous Polyposis 2 FML347 FAP2
Familial Adenomatous Polyposis 3 FML299 FAP3
Familial Adenomatous Polyposis 4 FML339 FAP4
Familial Adenomatous Polyposis Due to 5q22.2 Microdeletion FML254
Familial Alzheimer-Like Prion Disease FML202
Familial Amyloidosis, Finnish Type FML249
Familial Atrial Fibrillation FML001 ATFB
Familial Avascular Necrosis of the Femoral Head FML048
Familial Bilateral Striatal Necrosis FML050 FBSN
Familial Calcium Pyrophosphate Deposition FML307
Familial Cerebral Saccular Aneurysm FML206
Familial Chilblain Lupus FML337
Familial Cold Autoinflammatory Syndrome FML052 FCU
Familial Cold Autoinflammatory Syndrome 1 FML116 FCAS1
Familial Cold Autoinflammatory Syndrome 2 FML117 FCAS2
Familial Cold Autoinflammatory Syndrome 3 FML253 FCAS3
Familial Cold Autoinflammatory Syndrome 4 FML270 FCAS4
Familial Colorectal Cancer FML053
Familial Colorectal Cancer Type X FML311 FCCTX
Familial Combined Hyperlipoproteinemia FML235
Familial Deafness FML056
Familial Drusen FML292 DHRD
Familial Episodic Pain Syndrome FML340 FEPS
Familial Expansile Osteolysis FML345 FEO
Familial Febrile Seizures FML350 FEB
Familial Gastric Type 1 Neuroendocrine Tumor FML335
Familial Glomangioma FML025
Familial Glucocorticoid Deficiency FML063
Familial Hemiplegic Migraine FML023 FHM
Familial Hyperaldosteronism FML156 FH
Familial Hypercholesterolemia FML021
Familial Hyperlipidemia FML035
Familial Hypertension FML187
Familial Hypoaldosteronism FML275
Familial Hypocalciuric Hypercalcemia FML068 FBH
Familial Idiopathic Steroid-Resistant Nephrotic Syndrome with Focal Segmental Hyalinosis FML269
Familial Infantile Bilateral Striatal Necrosis FML309
Familial Intrahepatic Cholestasis FML355
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 FIHP
Familial Isolated Hypoparathyroidism Due to Agenesis of Parathyroid Gland FML196
Familial Isolated Pituitary Adenoma FML168 FIPA
Familial Isolated Restrictive Cardiomyopathy FML293
Familial Lcat Deficiency FML330 FLD
Familial Lipoprotein Lipase Deficiency FML026
Familial Long Qt Syndrome FML191
Familial Male-Limited Precocious Puberty FML157 GIPP
Familial Mediterranean Fever FML018 FMF
Familial Mediterranean Fever, Autosomal Dominant FML344 ADFMF
Familial Nephrotic Syndrome FML015
Familial Nonmedullary Thyroid Carcinoma FML354
Familial or Sporadic Hemiplegic Migraine FML306
Familial Osteochondritis Dissecans FML169 OD
Familial Ovarian Cancer FML353
Familial Papillary or Follicular Thyroid Carcinoma FML211 FNMTC
Familial Paroxysmal Nonkinesigenic Dyskinesia FML186 PDC
Familial Partial Lipodystrophy FML012 FPL
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 F-PCT
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 Scaphocephaly Syndrome FML352
Familial Short Qt Syndrome FML294 SQTS
Familial Sick Sinus Syndrome FML272
Familial Thoracic Aortic Aneurysm and Dissection FML089 FAA
Familial Thyroid Dyshormonogenesis FML297
Familial Tumoral Calcinosis FML091
Familial Vesicoureteral Reflux FML284
Familiar Chronic Mucocutaneous Candidiasis FML351 CMC
Fanconi Anemia, Complementation Group a FNC027 FANCA
Fanconi Anemia, Complementation Group B FNC032 FANCB
Fanconi Anemia, Complementation Group C FNC044 FANCC
Fanconi Anemia, Complementation Group D1 FNC024 FANCD1
Fanconi Anemia, Complementation Group D2 FNC042 FANCD2
Fanconi Anemia, Complementation Group E FNC043 FANCE
Fanconi Anemia, Complementation Group F FNC045 FANCF
Fanconi Anemia, Complementation Group G FNC030 FANCG
Fanconi Anemia, Complementation Group I FNC029 FANCI
Fanconi Anemia, Complementation Group J FNC025 FANCJ
Fanconi Anemia, Complementation Group L FNC028 FANCL
Fanconi Anemia, Complementation Group N FNC023 FANCN
Fanconi Anemia, Complementation Group O FNC048 FANCO
Fanconi Anemia, Complementation Group P FNC046 FANCP
Fanconi Anemia, Complementation Group Q FNC047 FANCQ
Fanconi Anemia, Complementation Group R FNC058 FANCR
Fanconi Anemia, Complementation Group S FNC062 FANCS
Fanconi Anemia, Complementation Group T FNC052 FANCT
Fanconi Anemia, Complementation Group U FNC057 FANCU
Fanconi Anemia, Complementation Group V FNC056 FANCV
Fanconi Anemia, Complementation Group W FNC061 FANCW
Fanconi Renotubular Syndrome 1 FNC026 FRTS1
Fanconi Renotubular Syndrome 2 FNC034 FRTS2
Fanconi Renotubular Syndrome 3 FNC049 FRTS3
Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young FNC060 FRTS4
Fanconi Syndrome FNC004
Fanconi-Bickel Syndrome FNC009 FBS
Fanconi-Like Syndrome FNC059
Far Eastern Spotted Fever FRS001
Farber Lipogranulomatosis FRB001 FRBRL
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 FIQTL1
Fasting Plasma Glucose Level Quantitative Trait Locus 1 FST012 FGQTL1
Fasting Plasma Glucose Level Quantitative Trait Locus 2 FST013 FGQTL2
Fasting Plasma Glucose Level Quantitative Trait Locus 3 FST014 FGQTL3
Fasting Plasma Glucose Level Quantitative Trait Locus 4 FST016 FGQTL4
Fasting Plasma Glucose Level Quantitative Trait Locus 5 FST017 FGQTL5
Fasting Plasma Glucose Level Quantitative Trait Locus 6 FST015 FGQTL6
Fastkd2-Related Infantile Mitochondrial Encephalomyopathy FST011
Fatal Familial Insomnia FTL002 FFI
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 NAFLD1
Fatty Liver Disease, Nonalcoholic 2 FTT007 NAFLD2
Fazio-Londe Disease FZL002 FALOND
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome FBL015
Fbln5-Related Cutis Laxa FBL003
Febrile Infection-Related Epilepsy Syndrome FBR064 FIRES
Febrile Seizures FBR031
Febrile Seizures, Familial, 1 FBR073 FEB1
Febrile Seizures, Familial, 10 FBR068 FEB10
Febrile Seizures, Familial, 11 FBR072 FEB11
Febrile Seizures, Familial, 2 FBR075 FEB2
Febrile Seizures, Familial, 4 FBR069 FEB4
Febrile Seizures, Familial, 5 FBR071 FEB5
Febrile Seizures, Familial, 6 FBR074 FEB6
Febrile Seizures, Familial, 7 FBR076 FEB7
Febrile Seizures, Familial, 8 FBR070 FEB8
Febrile Seizures, Familial, 9 FBR067 FEB9
Feingold Syndrome 1 FNG006 FGLDS1
Feingold Syndrome 2 FNG009 FGLDS2
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 FADS1
Fetal Akinesia Deformation Sequence 2 FTL070 FADS2
Fetal Akinesia Deformation Sequence 3 FTL071 FADS3
Fetal Akinesia Deformation Sequence 4 FTL072 FADS4
Fetal Alcohol Spectrum Disorder FTL006 FASD
Fetal Alcohol Syndrome FTL001 FAS
Fetal and Neonatal Alloimmune Thrombocytopenia FTL012 NAIT
Fetal Anticonvulsant Syndrome FTL073 FACS
Fetal Erythroblastosis FTL004
Fetal Hemoglobin Quantitative Trait Locus 1 FTL033 HBFQTL1
Fetal Hemoglobin Quantitative Trait Locus 2 FTL036 HBFQTL2
Fetal Hemoglobin Quantitative Trait Locus 3 FTL035 HBFQTL3
Fetal Hemoglobin Quantitative Trait Locus 4 FTL034 HBFQTL4
Fetal Hemoglobin Quantitative Trait Locus 5 FTL065 HBFQTL5
Fetal Hemoglobin Quantitative Trait Locus 6 FTL067 HBFQTL6
Fetal Hydantoin Syndrome FTL007
Fetal Macrosomia FTL021
Fetishism FTS001
Fg Syndrome 2 FGS002 FGS2
Fg Syndrome 3 FGS003 FGS3
Fg Syndrome 4 FGS004 FGS4
Fg Syndrome 5 FGS006 FGS5
Fgfr-Related Craniosynostosis Syndromes FGF001
Fibrillary Astrocytoma FBR008
Fibrinolytic Defect FBR052
Fibroblastic Rheumatism FBR091
Fibrochondrogenesis FBR025 FBCG1
Fibrochondrogenesis 1 FBR029 FBCG1
Fibrochondrogenesis 2 FBR030 FBCG2
Fibrodysplasia Ossificans Progressiva FBR011 FOP
Fibroepithelial Basal Cell Carcinoma FBR015
Fibroepithelial Polyp of the Anus FBR006
Fibrogenesis Imperfecta Ossium FBR010
Fibrolamellar Carcinoma FBR086 FHCC
Fibroma FBR054
Fibromatosis FBR019
Fibromatosis, Gingival, 1 FBR084 GINGF1
Fibromatosis, Gingival, 2 FBR079 GINGF2
Fibromatosis, Gingival, 3 FBR077 GINGF3
Fibromatosis, Gingival, 4 FBR080 GINGF4
Fibromatosis, Gingival, 5 FBR092 GINGF5
Fibromuscular Dysplasia FBR032 FMDA
Fibromyalgia FBR047 FMS
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 CFEOM1
Fibrosis of Extraocular Muscles, Congenital, 2 FBR050 CFEOM2
Fibrosis of Extraocular Muscles, Congenital, 3a, with or Without Extraocular Involvement FBR094 CFEOM3A
Fibrosis of Extraocular Muscles, Congenital, 5 FBR078 CFEOM5
Fibrosis, Neurodegeneration, and Cerebral Angiomatosis FBR097 FINCA
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 FUHRS
Fibular Hypoplasia and Complex Brachydactyly FBL002 DPS
Ficolin 3 Deficiency FCL083 FCN3D
Fiedler's Myocarditis FDL001
Filamentary Keratitis FLM001
Filarial Elephantiasis FLR001
Filariasis FLR002
Filippi Syndrome FLP001 FLPIS
Finger Agnosia FNG001
First-Degree Atrioventricular Block FRS012
Fish Allergy FSH003
Fish-Eye Disease FSH001 FED
Fissured Tongue FSS001
Fitzsimmons Syndrome FTZ003
Fitzsimmons-Guilbert Syndrome FTZ005
Fixed Drug Eruption FXD003
Fkbp14 Kyphoscoliotic Ehlers-Danlos Syndrome FKB002
Fleck Retina, Familial Benign FLC002 FRFB
Flinders Island Spotted Fever FLN001 FISF
Flna-Related Periventricular Nodular Heterotopia FLN007 BPNH
Flnb-Related Disorders FLN002
Floating-Harbor Syndrome FLT006 FLHS
Flucloxacilline Toxicity FLC003
Flying Phobia FLY001
Fmr1-Related Disorders FMR005
Focal Chorioretinitis FCL013
Focal Cortical Dysplasia, Type Ii FCL081 FCORD2
Focal Dermal Hypoplasia FCL009 FDH
Focal Dystonia FCL022 FTSD
Focal Epilepsy FCL014
Focal Epilepsy-Intellectual Disability-Cerebro-Cerebellar Malformation FCL062
Focal Epithelial Hyperplasia FCL010
Focal Facial Dermal Dysplasia FCL023 FFDD
Focal Facial Dermal Dysplasia 3, Setleis Type FCL045 FFDD3
Focal Facial Dermal Dysplasia 4 FCL046 FFDD4
Focal Hand Dystonia FCL049
Focal Myositis FCL041
Focal Palmoplantar Keratoderma FCL029
Focal Segmental Glomerulosclerosis FCL005 FGS
Focal Segmental Glomerulosclerosis 1 FCL025 FSGS1
Focal Segmental Glomerulosclerosis 2 FCL026 FSGS2
Focal Segmental Glomerulosclerosis 3 FCL027 FSGS3
Focal Segmental Glomerulosclerosis 4 FCL082 FSGS4
Focal Segmental Glomerulosclerosis 5 FCL028 FSGS5
Focal Segmental Glomerulosclerosis 6 FCL043 FSGS6
Focal Segmental Glomerulosclerosis 7 FCL085 FSGS7
Focal Segmental Glomerulosclerosis 8 FCL053 FSGS8
Focal Segmental Glomerulosclerosis 9 FCL055 FSGS9
Folate Malabsorption, Hereditary FLT009 HFM
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 FL1
Follicular Mucinosis FLL019
Folliculitis FLL008
Folliculotropic Mycosis Fungoides FLL042
Fontaine Progeroid Syndrome FNT005 FPS
Food Allergy FDL002
Foodborne Botulism FDB001
Foot Drop FTD001
Foramen Magnum Meningioma FRM004
Form Agnosia FRM002
Forsythe-Wakeling Syndrome FRS010 FWS
Foster-Kennedy Syndrome FST001
Fournier Gangrene FRN014
Fourth Cranial Nerve Palsy FRT001
Foveal Hypoplasia 1 FVL006 FVH1
Foveal Hypoplasia 2 FVL008 FVH2
Fox-Fordyce Disease FXF002
Foxg1 Syndrome FXG001
Foxp2-Related Speech and Language Disorders FXP001
Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) FRG013 FRA16B
Fragile X Syndrome FRG001 FXS
Fragile X Tremor/ataxia Syndrome FRG010 FXTAS
Fragile X-Associated Tremor/ataxia Syndrome FRG008 FXTAS
Frank-Ter Haar Syndrome FRN039 FTHS
Fraser Syndrome 1 FRS014 FRASRS1
Fraser Syndrome 2 FRS016 FRASRS2
Fraser Syndrome 3 FRS015 FRASRS3
Frasier Syndrome FRS002 FS
Fraxf Syndrome FRX003
Free Sialic Acid Storage Disorders FRS004
Freemartinism FRM001
Frem1 Autosomal Recessive Disorders FRM011
Frias Syndrome FRS007
Friedreich Ataxia 1 FRD012 FRDA
Friedreich Ataxia 2 FRD006 FRDA2
Frmd7-Related Infantile Nystagmus FRM005 NYS1
Frontal Convexity Meningioma FRN003
Frontal Fibrosing Alopecia FRN020 FFA
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 FMD
Frontometaphyseal Dysplasia 1 FRN049 FMD1
Frontometaphyseal Dysplasia 2 FRN048 FMD2
Frontonasal Dysplasia 1 FRN036 FND1
Frontonasal Dysplasia 2 FRN033 FND2
Frontonasal Dysplasia 3 FRN032 FND3
Frontotemporal Dementia FRN006 FTD
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1 FRN044 FTDALS1
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2 FRN040 FTDALS2
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3 FRN043 FTDALS3
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4 FRN045 FTDALS4
Frontotemporal Dementia, Chromosome 3-Linked FRN013 FTD3
Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related FRN051 UP-FTD
Frozen Shoulder FRZ001
Fructose Intolerance, Hereditary FRC011 HFI
Fructose Utilization FRC013
Fructose-1,6-Bisphosphatase Deficiency FRC001 FBP1D
Fructosuria, Essential FRC005 FRUCT
Fruit Allergy FRT005
Fryns Microphthalmia Syndrome FRY006
Fryns Syndrome FRY002 FRNS
Fuchs' Endothelial Dystrophy FCH001 FCED
Fuchs' Heterochromic Uveitis FCH002 FHI
Fucosidosis FCS002 FUCA1D
Fucosyltransferase 6 Deficiency FCS013
Fumarase Deficiency FMR004 FMRD
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 FALBI
Fundus Dystrophy FND002
Fungal Esophagitis FNG003
Fungal Keratitis FNG016
Fungal Meningitis FNG004
Funisitis FNS001
Fusariosis FSR001
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