Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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familial adenomatous polyposis 4 |
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A familial adenomatous polyposis characterized by ..[+]
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familial glucocorticoid deficiency |
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An adrenal cortex disease that is characterized by..[+]
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Fazio-Londe disease |
riboflavin transporter deficiency neuronopathy
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A progressive bulbar palsy that is characterized b..[+]
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fibrochondrogenesis 1 |
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A fibrochondrogenesis that is characterized by a f..[+]
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fibrochondrogenesis 2 |
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A fibrochondrogenesis that has_material_basis_in h..[+]
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Fanconi renotubular syndrome 1 |
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A Fanconi syndrome that has_material_basis_in hete..[+]
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Fanconi renotubular syndrome 2 |
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A Fanconi syndrome that has_material_basis_in homo..[+]
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Fanconi renotubular syndrome 3 |
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A Fanconi syndrome that is characterized by charac..[+]
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Fanconi renotubular syndrome 4 |
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A Fanconi syndrome that has_material_basis_in hete..[+]
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Fanconi renotubular syndrome 5 |
Acadian-variant Fanconi syndrome
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A Fanconi syndrome that is characterized by proxim..[+]
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familial Behcet-like autoinflammatory syndrome |
A20 haploinsufficiency
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A primary immunodeficiency disease that is charact..[+]
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fetal akinesia deformation sequence syndrome X-linked |
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A fetal akinesia deformation sequence syndrom that..[+]
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frontonasal dysplasia |
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A syndrome that is a cleft in thes nose, a broad n..[+]
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frontonasal dysplasia 1 |
Frontorhiny
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A frontonasal dysplasia that is characterized by h..[+]
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frontonasal dysplasia 2 |
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A frontonasal dysplasia that has_material_basis_in..[+]
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frontonasal dysplasia 3 |
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A frontonasal dysplasia that has_material_basis_in..[+]
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familial gestational hyperthyroidism |
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A hyperthyroidism that is characterized by promisc..[+]
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familial hyperinsulinemic hypoglycemia 8 |
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A hyperinsulinemic hypoglycemia characterized by p..[+]
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familial focal epilepsy with variable foci |
DEPDC5-related epilepsy
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A focal epilepsy that is characterized by focal se..[+]
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familial focal epilepsy with variable foci 1 |
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A familial focal epilepsy with variable foci that ..[+]
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familial focal epilepsy with variable foci 2 |
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A familial focal epilepsy with variable foci that ..[+]
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familial focal epilepsy with variable foci 3 |
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A familial focal epilepsy with variable foci that ..[+]
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familial focal epilepsy with variable foci 4 |
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A familial focal epilepsy with variable foci that ..[+]
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Fraser syndrome |
cryptophthalmos with other malformations
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A syndrome characterized by cryptophthalmos, synda..[+]
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familial isolated deficiency of vitamin E |
familial isolated vitamin E deficiency; ataxia wit..
[+]
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A vitamin metabolic disorder characterized by prog..[+]
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familial cold autoinflammatory syndrome |
FCAS
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A primary immunodeficiency disease characterized b..[+]
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familial cold autoinflammatory syndrome 1 |
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A familial cold autoinflammatory syndrome characte..[+]
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familial cold autoinflammatory syndrome 2 |
NLRP12-associated hereditary periodic fever syndro..
[+]
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A familial cold autoinflammatory syndrome characte..[+]
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familial cold autoinflammatory syndrome 3 |
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A familial cold autoinflammatory syndrome characte..[+]
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familial cold autoinflammatory syndrome 4 |
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A familial cold autoinflammatory syndrome that is ..[+]
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Fanconi-like syndrome |
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A syndrome characterized by pancytopenia, immune d..[+]
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1 articles | |
Fuhrmann syndrome |
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A bone development disease that is characterized b..[+]
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frontotemporal dementia and/or amyotrophic lateral sclerosis 3 |
An amyotrophic lateral sclerosis that has_material..[+]
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frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
An amyotrophic lateral sclerosis that has_material..[+]
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familial hemophagocytic lymphohistiocytosis 1 |
FHL1; HLH1; HPLH1
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A hemophagocytic lymphohistiocytosis that has_mate..[+]
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familial hemophagocytic lymphohistiocytosis 2 |
FHL2; HLH2; HPLH2
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A hemophagocytic lymphohistiocytosis that has_mate..[+]
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familial hemophagocytic lymphohistiocytosis 3 |
FHL3; HPLH3; HLH3
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A hemophagocytic lymphohistiocytosis that has_mate..[+]
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familial hemophagocytic lymphohistiocytosis 4 |
FHL4; HLH4; HPLH4
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A hemophagocytic lymphohistiocytosis that has_mate..[+]
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familial hemophagocytic lymphohistiocytosis 5 |
FHL5; HPLH5; HLH5
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A hemophagocytic lymphohistiocytosis that has_mate..[+]
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familial hypobetalipoproteinemia 2 |
FHBL2; combined familial hypolipidemia
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A hypobetalipoproteinemia that has_material_basis_..[+]
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familial hypobetalipoproteinemia 1 |
FHBL1
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A hypobetalipoproteinemia that has_material_basis_..[+]
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Fanconi anemia complementation group V |
FANCV
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A Fanconi anemia that has_material_basis_in homozy..[+]
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Fanconi anemia complementation group T |
FANCT
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A Fanconi anemia that has_material_basis_in compou..[+]
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Fanconi anemia complementation group L |
FANCL
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A Fanconi anemia that has_material_basis_in homozy..[+]
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Fanconi anemia complementation group D2 |
FAD2; Fanconi pancytopenia type 4; FANCD2; FA4
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A Fanconi anemia that has_material_basis_in compou..[+]
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Fanconi anemia complementation group E |
FANCE; FACE
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A Fanconi anemia that has_material_basis_in homozy..[+]
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Fanconi anemia complementation group U |
FANCU
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A Fanconi anemia that has_material_basis_in homozy..[+]
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Fanconi anemia complementation group G |
FANCG
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A Fanconi anemia that has_material_basis_in homozy..[+]
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Fanconi anemia complementation group C |
FA3; Fanconi pancytopenia type 3; FANCC; FACC
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A Fanconi anemia that has_material_basis_in homozy..[+]
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Fanconi anemia complementation group F |
FANCF
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A Fanconi anemia that has_material_basis_in homozy..[+]
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