OMIM ID | Human Disease |
OMIM:301500 |
Fabry Disease
|
OMIM:227250 |
Facial Abnormalities, Kyphoscoliosis, and Mental Retardation
|
OMIM:600251 |
Facial Clefting, Oblique, 1; OBLFC1
|
OMIM:602556 |
Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly
|
OMIM:618381 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome;
|
OMIM:615139 |
Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature; FILS
|
OMIM:603589 |
Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification
|
OMIM:227255 |
Facial Dysmorphism with Multiple Malformations
|
OMIM:134000 |
Facial Hypertrichosis
|
OMIM:617732 |
Facial Palsy, Congenital, with Ptosis and Velopharyngeal Dysfunction;
|
OMIM:134200 |
Facial Palsy, Familial Recurrent Peripheral
|
OMIM:601471 |
Facial Paresis, Hereditary Congenital, 1; HCFP1
|
OMIM:604185 |
Facial Paresis, Hereditary Congenital, 2; HCFP2
|
OMIM:614744 |
Facial Paresis, Hereditary Congenital, 3; HCFP3
|
OMIM:134300 |
Facial Spasm
|
OMIM:227270 |
Faciocardiomelic Dysplasia, Lethal
|
OMIM:612731 |
Faciocardiomelic Syndrome
|
OMIM:227280 |
Faciocardiorenal Syndrome
|
OMIM:227330 |
Faciodigitogenital Syndrome, Autosomal Recessive
|
OMIM:158900 |
Facioscapulohumeral Muscular Dystrophy 1; FSHD1
|
OMIM:158901 |
Facioscapulohumeral Muscular Dystrophy 2, Digenic; FSHD2
|
OMIM:619477 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic; FSHD3
|
OMIM:619478 |
Facioscapulohumeral Muscular Dystrophy 4, Digenic; FSHD4
|
OMIM:227320 |
Faciothoracogenital Syndrome
|
OMIM:134540 |
Factor IX and Factor XI, Combined Deficiency of
|
OMIM:134520 |
Factors VIII, IX and XI, Combined Deficiency of
|
OMIM:227300 |
Factor V and Factor VIII, Combined Deficiency of, 1; F5F8D1
|
OMIM:613625 |
Factor V and Factor VIII, Combined Deficiency of, 2; F5F8D2
|
OMIM:227310 |
Factor V and Factor VIII, Combined Deficiency of, with Normal Protein C and Protein C Inhibitor
|
OMIM:227400 |
Factor V Deficiency
|
OMIM:134400 |
Factor V Excess with Spontaneous Thrombosis
|
OMIM:134430 |
Factor VII and Factor VIII, Combined Deficiency of
|
OMIM:227500 |
Factor VII Deficiency
|
OMIM:134510 |
Factor VIII and Factor IX, Combined Deficiency Of; F8F9D
|
OMIM:134500 |
Factor VIII Deficiency
|
OMIM:227600 |
Factor X Deficiency
|
OMIM:612416 |
Factor XI Deficiency
|
OMIM:234000 |
Factor XII Deficiency
|
OMIM:613225 |
Factor XIII, A Subunit, Deficiency of
|
OMIM:613235 |
Factor XIII, B Subunit, Deficiency of
|
OMIM:125350 |
Failure of Tooth Eruption, Primary; PFE
|
OMIM:601127 |
Fallot Complex with Severe Mental and Growth Retardation
|
OMIM:175100 |
Familial Adenomatous Polyposis 1; FAP1
|
OMIM:608456 |
Familial Adenomatous Polyposis 2; FAP2
|
OMIM:616415 |
Familial Adenomatous Polyposis 3; FAP3
|
OMIM:617100 |
Familial Adenomatous Polyposis 4; FAP4
|
OMIM:620058 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome
|
OMIM:120100 |
Familial Cold Autoinflammatory Syndrome 1; FCAS1
|
OMIM:611762 |
Familial Cold Autoinflammatory Syndrome 2; FCAS2
|
OMIM:614468 |
Familial Cold Autoinflammatory Syndrome 3; FCAS3
|
OMIM:616115 |
Familial Cold Autoinflammatory Syndrome 4; FCAS4
|
OMIM:174810 |
Familial Expansile Osteolysis; FEO
|
OMIM:134610 |
Familial Mediterranean Fever, Autosomal Dominant
|
OMIM:249100 |
Familial Mediterranean Fever; FMF
|
OMIM:227650 |
Fanconi Anemia, Complementation Group A; FANCA
|
OMIM:300514 |
Fanconi Anemia, Complementation Group B; FANCB
|
OMIM:227645 |
Fanconi Anemia, Complementation Group C; FANCC
|
OMIM:605724 |
Fanconi Anemia, Complementation Group D1; FANCD1
|
OMIM:227646 |
Fanconi Anemia, Complementation Group D2; FANCD2
|
OMIM:600901 |
Fanconi Anemia, Complementation Group E; FANCE
|
OMIM:603467 |
Fanconi Anemia, Complementation Group F; FANCF
|
OMIM:614082 |
Fanconi Anemia, Complementation Group G; FANCG
|
OMIM:609053 |
Fanconi Anemia, Complementation Group I; FANCI
|
OMIM:609054 |
Fanconi Anemia, Complementation Group J; FANCJ
|
OMIM:614083 |
Fanconi Anemia, Complementation Group L; FANCL
|
OMIM:610832 |
Fanconi Anemia, Complementation Group N; FANCN
|
OMIM:613390 |
Fanconi Anemia, Complementation Group O; FANCO
|
OMIM:613951 |
Fanconi Anemia, Complementation Group P; FANCP
|
OMIM:615272 |
Fanconi Anemia, Complementation Group Q; FANCQ
|
OMIM:617244 |
Fanconi Anemia, Complementation Group R; FANCR
|
OMIM:617883 |
Fanconi Anemia, Complementation Group S; FANCS
|
OMIM:616435 |
Fanconi Anemia, Complementation Group T; FANCT
|
OMIM:617247 |
Fanconi Anemia, Complementation Group U; FANCU
|
OMIM:617243 |
Fanconi Anemia, Complementation Group V; FANCV
|
OMIM:617784 |
Fanconi Anemia, Complementation Group W; FANCW
|
OMIM:227810 |
Fanconi-Bickel Syndrome; FBS
|
OMIM:227850 |
Fanconi-Like Syndrome
|
OMIM:134600 |
Fanconi Renotubular Syndrome 1; FRTS1
|
OMIM:613388 |
Fanconi Renotubular Syndrome 2; FRTS2
|
OMIM:615605 |
Fanconi Renotubular Syndrome 3; FRTS3
|
OMIM:616026 |
Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young; FRTS4
|
OMIM:618913 |
Fanconi Renotubular Syndrome 5; FRTS5
|
OMIM:228000 |
Farber Lipogranulomatosis; FRBRL
|
OMIM:228020 |
Fascial Dystrophy, Congenital
|
OMIM:600072 |
Fatal Familial Insomnia; FFI
|
OMIM:620116 |
Fatty Liver Disease, Protection From; FLDP
|
OMIM:613282 |
Fatty Liver Disease, Susceptibility to, 1; FLD1
|
OMIM:613387 |
Fatty Liver Disease, Susceptibility to, 2; FLD2
|
OMIM:619376 |
Faundes-Banka Syndrome; FABAS
|
OMIM:211500 |
Fazio-Londe Disease
|
OMIM:612637 |
Febrile Seizures, Familial, 10; FEB10
|
OMIM:614418 |
Febrile Seizures, Familial, 11; FEB11
|
OMIM:121210 |
Febrile Seizures, Familial, 1; FEB1
|
OMIM:604352 |
Febrile Seizures, Familial, 4; FEB4
|
OMIM:609255 |
Febrile Seizures, Familial, 5; FEB5
|
OMIM:609253 |
Febrile Seizures, Familial, 6; FEB6
|
OMIM:611515 |
Febrile Seizures, Familial, 7; FEB7
|
OMIM:607681 |
Febrile Seizures, Familial, 8; FEB8
|
OMIM:611634 |
Febrile Seizures, Familial, 9; FEB9
|
OMIM:164280 |
Feingold Syndrome 1; FGLDS1
|
OMIM:614326 |
Feingold Syndrome 2; FGLDS2
|
OMIM:134750 |
Felty Syndrome
|
OMIM:134780 |
Femoral-Facial Syndrome; FFS
|
OMIM:228200 |
Femur-Fibula-Ulna Syndrome
|
OMIM:228250 |
Femur, Unilateral Bifid, with Monodactylous Ectrodactyly
|
OMIM:619699 |
Ferguson-Bonni Neurodevelopmental Syndrome; FERBON
|
OMIM:208150 |
Fetal Akinesia Deformation Sequence 1; FADS1
|
OMIM:618388 |
Fetal Akinesia Deformation Sequence 2; FADS2
|
OMIM:618389 |
Fetal Akinesia Deformation Sequence 3; FADS3
|
OMIM:618393 |
Fetal Akinesia Deformation Sequence 4; FADS4
|
OMIM:619602 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, and Dysmorphic Facies; FARIMPD
|
OMIM:300073 |
Fetal Akinesia Syndrome, X-Linked
|
OMIM:613630 |
Fetal Encasement Syndrome
|
OMIM:228355 |
Fetal Iodine Deficiency Disorder; FIDD
|
OMIM:228400 |
Fever, Familial Lifelong Persistent
|
OMIM:300321 |
FG Syndrome 2; FGS2
|
OMIM:300406 |
FG Syndrome 3; FGS3
|
OMIM:300422 |
Fg Syndrome 4; FGS4
|
OMIM:300581 |
Fg Syndrome 5; FGS5
|
OMIM:134900 |
Fibrinolytic Defect
|
OMIM:228520 |
Fibrochondrogenesis 1; FBCG1
|
OMIM:614524 |
Fibrochondrogenesis 2; FBCG2
|
OMIM:135100 |
Fibrodysplasia Ossificans Progressiva; FOP
|
OMIM:135300 |
Fibromatosis, Gingival, 1; GINGF1
|
OMIM:605544 |
Fibromatosis, Gingival, 2; GINGF2
|
OMIM:609955 |
Fibromatosis, Gingival, 3; GINGF3
|
OMIM:611010 |
Fibromatosis, Gingival, 4; GINGF4
|
OMIM:617626 |
Fibromatosis, Gingival, 5; GINGF5
|
OMIM:228560 |
Fibromatosis, Gingival, with Distinctive Facies
|
OMIM:605400 |
Fibromatosis, Gingival, with Hypertrichosis and Mental Retardation
|
OMIM:135550 |
Fibromatosis, Gingival, with Progressive Deafness
|
OMIM:135580 |
Fibromuscular Dysplasia, Arterial; FMDA
|
OMIM:619329 |
Fibromuscular Dysplasia, Multifocal; FMDMF
|
OMIM:228800 |
Fibrosclerosis, Multifocal
|
OMIM:618278 |
Fibrosis, Neurodegeneration, and Cerebral Angiomatosis; FINCA
|
OMIM:135700 |
Fibrosis of Extraocular Muscles, Congenital, 1; CFEOM1
|
OMIM:602078 |
Fibrosis of Extraocular Muscles, Congenital, 2; CFEOM2
|
OMIM:600638 |
Fibrosis of Extraocular Muscles, Congenital, 3a, with or without Extraocular Involvement; CFEOM3A
|
OMIM:609384 |
Fibrosis of Extraocular Muscles, Congenital, 3c; CFEOM3C
|
OMIM:616219 |
Fibrosis of Extraocular Muscles, Congenital, 5; CFEOM5
|
OMIM:609612 |
Fibrosis of Extraocular Muscles, Congenital, with Synergistic Divergence
|
OMIM:228930 |
Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly
|
OMIM:246570 |
Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
|
OMIM:135800 |
Fibula, Recurrent Dislocation of Head of
|
OMIM:228940 |
Fibuloulnar Aplasia or Hypoplasia with Renal Abnormalities
|
OMIM:613860 |
Ficolin 3 Deficiency
|
OMIM:272440 |
Filippi Syndrome; FLPIS
|
OMIM:135950 |
Finger Locking, Recurrent, with Intrauterine Growth Retardation and Proportionate Short Stature
|
OMIM:305550 |
Fingerprint Body Myopathy
|
OMIM:136120 |
Fish-Eye Disease; FED
|
OMIM:228980 |
Fleck Retina, Familial Benign; FRFB
|
OMIM:228990 |
Fleck Retina of Kandori
|
OMIM:620511 |
Fliedner-Zweier Syndrome; FZS
|
OMIM:136140 |
Floating-Harbor Syndrome; FLHS
|
OMIM:136150 |
Flood Factor Deficiency
|
OMIM:136200 |
Flushing of Ears and Somnolence
|
OMIM:136300 |
Flynn-Aird Syndrome
|
OMIM:607341 |
Focal Cortical Dysplasia, Type II; FCORD2
|
OMIM:305600 |
Focal Dermal Hypoplasia; FDH
|
OMIM:136400 |
Focal Epithelial Hyperplasia of the Oral Mucosa
|
OMIM:229045 |
Focal Epithelial Hyperplasia, Oral
|
OMIM:136500 |
Focal Facial Dermal Dysplasia 1, Brauer Type; FFDD1
|
OMIM:614973 |
Focal Facial Dermal Dysplasia 2, Brauer-Setleis Type; FFDD2
|
OMIM:227260 |
Focal Facial Dermal Dysplasia 3, Setleis Type; FFDD3
|
OMIM:614974 |
Focal Facial Dermal Dysplasia 4; FFDD4
|
OMIM:256020 |
Focal Segmental Glomerulosclerosis 10; FSGS10
|
OMIM:603278 |
Focal Segmental Glomerulosclerosis 1; FSGS1
|
OMIM:603965 |
Focal Segmental Glomerulosclerosis 2; FSGS2
|
OMIM:607832 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To; FSGS3
|
OMIM:612551 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To; FSGS4
|
OMIM:613237 |
Focal Segmental Glomerulosclerosis 5; FSGS5
|
OMIM:614131 |
Focal Segmental Glomerulosclerosis 6; FSGS6
|
OMIM:616002 |
Focal Segmental Glomerulosclerosis 7; FSGS7
|
OMIM:616032 |
Focal Segmental Glomerulosclerosis 8; FSGS8
|
OMIM:616220 |
Focal Segmental Glomerulosclerosis 9; FSGS9
|
OMIM:619428 |
Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome;
|
OMIM:229050 |
Folate Malabsorption, Hereditary
|
OMIM:603587 |
Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts
|
OMIM:613024 |
Follicular Lymphoma, Susceptibility to, 1; FL1
|
OMIM:612289 |
Fontaine Progeroid Syndrome; FPS
|
OMIM:613606 |
Forsythe-Wakeling Syndrome; FWS
|
OMIM:229120 |
Fountain Syndrome
|
OMIM:136480 |
Fourth Cranial Nerve Palsy, Familial Congenital
|
OMIM:136520 |
Foveal Hypoplasia 1; FVH1
|
OMIM:609218 |
Foveal Hypoplasia 2; FVH2
|
OMIM:136540 |
Fragile Site 10q23
|
OMIM:136580 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(q22.1); FRA16B
|
OMIM:300624 |
Fragile X Syndrome; FXS
|
OMIM:300623 |
Fragile X Tremor/Ataxia Syndrome; FXTAS
|
OMIM:249420 |
Frank-Ter Haar Syndrome; FTHS
|
OMIM:229230 |
Fraser-Like Syndrome
|
OMIM:219000 |
Fraser Syndrome 1; FRASRS1
|
OMIM:617666 |
Fraser Syndrome 2; FRASRS2
|
OMIM:617667 |
Fraser Syndrome 3; FRASRS3
|
OMIM:136680 |
Frasier Syndrome
|
OMIM:229250 |
Freesia Flowers, Inability to Smell
|
OMIM:609640 |
Frias Syndrome
|
OMIM:601992 |
Friedreich Ataxia 2; FRDA2
|
OMIM:229310 |
Friedreich Ataxia and Congenital Glaucoma
|
OMIM:229300 |
Friedreich Ataxia; FRDA
|
OMIM:136600 |
Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness
|
OMIM:229400 |
Frontofacionasal Dysplasia
|
OMIM:305620 |
Frontometaphyseal Dysplasia 1; FMD1
|
OMIM:617137 |
Frontometaphyseal Dysplasia 2; FMD2
|
OMIM:136760 |
Frontonasal Dysplasia 1; FND1
|
OMIM:613451 |
Frontonasal Dysplasia 2; FND2
|
OMIM:613456 |
Frontonasal Dysplasia 3; FND3
|
OMIM:203000 |
Frontonasal Dysplasia with Alar Clefts
|
OMIM:605321 |
Frontoocular Syndrome
|
OMIM:105550 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 1;
|
OMIM:615911 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 2;
|
OMIM:616437 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3;
|
OMIM:616439 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 4; FTDALS4
|
OMIM:619141 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 5;
|
OMIM:613954 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 6;
|
OMIM:600795 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 7;
|
OMIM:619132 |
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 8;
|
OMIM:600274 |
Frontotemporal Dementia; FTD
|
OMIM:607485 |
Frontotemporal Lobar Degeneration with Tdp43 Inclusions, Grn-Related
|
OMIM:229700 |
Fructose-1,6-Bisphosphatase Deficiency; FBP1D
|
OMIM:229500 |
Fructose and Galactose Intolerance
|
OMIM:229600 |
Fructose Intolerance, Hereditary; HFI
|
OMIM:229650 |
Fructose Utilization
|
OMIM:229800 |
Fructosuria, Essential
|
OMIM:600302 |
Fryns Macrocephaly
|
OMIM:600776 |
Fryns Microphthalmia Syndrome
|
OMIM:229850 |
Fryns Syndrome; FRNS
|
OMIM:136830 |
Fucosidase Regulator
|
OMIM:230000 |
Fucosidosis
|
OMIM:613852 |
Fucosyltransferase 6 Deficiency
|
OMIM:606812 |
Fumarase Deficiency; FMRD
|
OMIM:136880 |
Fundus Albipunctatus
|
OMIM:264420 |
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
|
OMIM:137000 |
Futcher Line
|