Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Fanconi anemia complementation group N |
FANCN
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A Fanconi anemia that has_material_basis_in compou..[+]
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Fanconi anemia complementation group A |
FANCA
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A Fanconi anemia that has_material_basis_in homozy..[+]
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1 articles | |
Fanconi anemia complementation group O |
FANCO
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A Fanconi anemia that has_material_basis_in homozy..[+]
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Fanconi anemia complementation group J |
FANCJ
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A Fanconi anemia that has_material_basis_in homozy..[+]
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1 articles | |
Fanconi anemia complementation group B |
FANCB; Fanconi pancytopenia type 2; FACB; FA2
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A Fanconi anemia that has_material_basis_in mutati..[+]
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focal segmental glomerulosclerosis 1 |
FSGS1
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A focal segmental glomerulosclerosis that has_mate..[+]
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focal segmental glomerulosclerosis 2 |
FSGS2
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A focal segmental glomerulosclerosis that has_mate..[+]
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focal segmental glomerulosclerosis 5 |
FSGS5
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A focal segmental glomerulosclerosis that has_mate..[+]
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focal segmental glomerulosclerosis 6 |
FSGS6
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A focal segmental glomerulosclerosis that has_mate..[+]
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focal segmental glomerulosclerosis 7 |
FSGS7
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A focal segmental glomerulosclerosis that has_mate..[+]
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focal segmental glomerulosclerosis 8 |
FSGS8
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A focal segmental glomerulosclerosis that has_mate..[+]
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focal segmental glomerulosclerosis 9 |
FSGS9
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A focal segmental glomerulosclerosis that has_mate..[+]
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French Canadian Leigh disease |
A cytochrome-c oxidase deficiency disease characte..[+]
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familial hemiplegic migraine 1 |
A familial hemiplegic migraine that is commonly as..[+]
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familial hemiplegic migraine 3 |
FHM3; MHP3
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A familial hemiplegic migraine that has_material_b..[+]
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facioscapulohumeral muscular dystrophy 2 |
A facioscapulohumeral muscular dystrophy that has_..[+]
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Friedreich ataxia 1 |
FRDA1; FA1
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A Friedreich ataxia that has_material_basis_in hom..[+]
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Friedreich ataxia 2 |
FRDA2
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A Friedreich ataxia that has_material_basis_in mut..[+]
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frontotemporal dementia and/or amyotrophic lateral sclerosis 7 |
A frontotemporal dementia and/or amyotrophic later..[+]
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fumarase deficiency |
fumaric aciduria; FMRD
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An amino acid metabolic disorder characterized by ..[+]
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familial febrile seizures 8 |
FEB8; familial febrile convulsions 8
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A familial febrile seizures that has_material_basi..[+]
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familial febrile seizures 4 |
FEB4; familial febrile convulsions 4
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A familial febrile seizures that has_material_basi..[+]
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familial febrile seizures 11 |
FEB11; familial febrile convulsions 11
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A familial febrile seizures that has_material_basi..[+]
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Floating-Harbor syndrome |
FLHS
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A syndrome characterized by growth retardation, pr..[+]
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familial hepatic adenoma |
familial liver cell adenomas
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A hepatocellular adenoma characterized by highly v..[+]
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familial progressive hyperpigmentation with or without hypopigmentation |
FPHH; melanosis universalis hereditaria; MUH
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A skin disease characterized by progressive, diffu..[+]
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fetal akinesia deformation sequence syndrome |
A syndrome characterized by decreased fetal moveme..[+]
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fetal akinesia deformation sequence syndrome 3 |
FADS3
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A fetal akinesia deformation sequence that has_mat..[+]
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fetal akinesia deformation sequence syndrome 1 |
FADS1
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A fetal akinesia deformation sequence that has_mat..[+]
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fetal akinesia deformation sequence syndrome 2 |
FADS2
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A fetal akinesia deformation sequence that has_mat..[+]
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fetal akinesia deformation sequence syndrome 4 |
FADS4
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A fetal akinesia deformation sequence that has_mat..[+]
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familial isolated hypoparathyroidism |
FIH
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A hypoparathyroidism that has_material_basis_in mu..[+]
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Fraser syndrome 1 |
FRASRS1
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A Fraser syndrome that has_material_basis_in homoz..[+]
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Fraser syndrome 3 |
FRASRS3
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A Fraser syndrome that has_material_basis_in homoz..[+]
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Fraser syndrome 2 |
FRASRS2
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A Fraser syndrome that has_material_basis_in homoz..[+]
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familial chylomicronemia syndrome |
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A familial hyperlipidemia characterized by hypertr..[+]
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familial apolipoprotein C-II deficiency |
A familial chylomicronemia syndrome characterized ..[+]
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familial GPIHBP1 deficiency |
familial glycosylphosphatidylinositol-anchored hig..
[+]
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A familial chylomicronemia syndrome characterized ..[+]
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familial apolipoprotein A5 deficiency |
A familial chylomicronemia syndrome characterized ..[+]
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familial lipase maturation factor 1 deficiency |
familial LMF1 deficiency; combined lipase deficien..
[+]
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A familial chylomicronemia syndrome characterized ..[+]
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familial multiple nevi flammei |
familial multiple port-wine stains; CMC; congenita..
[+]
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A capillary disease characterized by dark red to p..[+]
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familial expansile osteolysis |
FEO; McCabe disease; hereditary expansile polyosto..
[+]
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A bone remodeling disease characterized by increas..[+]
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familial male-limited precocious puberty |
familial gonadotropin-independent male-limited sex..
[+]
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An endocrine system disease characterized by onset..[+]
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familial isolated trichomegaly |
long eyelashes; TCMGLY
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An eyelid disease characterized by prolonged anage..[+]
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familial woolly hair syndrome |
familial wooly hair syndrome; hereditary woolly ha..
[+]
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A hair disease characterized by fine and tightly c..[+]
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Freeman-Sheldon syndrome |
craniocarpotarsal dysplasia; whistling face syndro..
[+]
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A distal arthrogryposis characterized by microstom..[+]
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familial erythrocytosis 8 |
bisphosphoglycerate mutase deficiency; bisphosphog..
[+]
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A primary polycythemia characterized by erythrocyt..[+]
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familial erythrocytosis 7 |
alpha-globin type polycythemia; ECYT7; alpha-globi..
[+]
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A primary polycythemia characterized by high oxyge..[+]
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familial erythrocytosis 6 |
beta-globin type polycythemia; ECYT6; beta-globin ..
[+]
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A primary polycythemia characterized by high oxyge..[+]
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familial benign fleck retina |
FRFB
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A retinal disease characterized by a striking patt..[+]
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