Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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familial hemophagocytic lymphohistiocytosis 5 |
FHL5; HLH5; HPLH5
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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 |
Fanconi pancytopenia type 4; FANCD2; FAD2; 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 |
Fanconi pancytopenia type 3; FANCC; FACC; FA3
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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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Fanconi anemia complementation group D1 |
FANCD1; FAD1
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A Fanconi anemia that has_material_basis_in homozy..[+]
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Fanconi anemia complementation group R |
FANCR
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A Fanconi anemia that has_material_basis_in hetero..[+]
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Fanconi anemia complementation group I |
FANCI
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A Fanconi anemia that has_material_basis_in homozy..[+]
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Fanconi anemia complementation group P |
FANCP
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A Fanconi anemia characterized by increased chromo..[+]
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Fanconi anemia complementation group Q |
FANCQ
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A Fanconi anemia that has_material_basis_in compou..[+]
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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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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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Fanconi anemia complementation group B |
Fanconi pancytopenia type 2; FANCB; 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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familial hemiplegic migraine 2 |
FHM2; Familial hemiplegic migraine-2; MHP2
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A familial hemiplegic migraine that has_material_b..[+]
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familial febrile seizures 5 |
FEB5; familial febrile convulsions 5
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A familial febrile seizures that has_material_basi..[+]
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familial febrile seizures 6 |
FEB6; familial febrile convulsions 6
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A familial febrile seizures that has_material_basi..[+]
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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 2 |
FADS2
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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 3 |
FRASRS3
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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 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 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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familial erythrocytosis 6 |
beta-globin type erythrocytosis; beta-globin type ..
[+]
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A primary polycythemia characterized by high oxyge..[+]
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familial adult myoclonic epilepsy |
An adolescence-adult electroclinical syndrome char..[+]
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familial adult myoclonic epilepsy 1 |
A familial adult myoclonic epilepsy that has_mater..[+]
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familial adult myoclonic epilepsy 7 |
A familial adult myoclonic epilepsy that has_mater..[+]
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familial hypertryptophanemia |
HYPTRP
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An amino acid metabolic disorder characterized by ..[+]
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focal nonepidermolytic palmoplantar keratoderma |
FNEPPK; isolated focal non-epidermolytic palmoplan..
[+]
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A nonepidermolytic palmoplantar keratoderma charac..[+]
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focal or diffuse nonepidermolytic palmoplantar keratoderma |
autosomal dominant focal non-epidermolytic palmopl..
[+]
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A nonepidermolytic palmoplantar keratoderma charac..[+]
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familial episodic pain syndrome |
FEPS
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A peripheral neuropathy characterized by recurrent..[+]
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familial episodic pain syndrome 2 |
FEPS2
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A familial episodic pain syndrome characterized by..[+]
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familial thyroid dyshormonogenesis |
|
A congenital hypothyroidism characterized by thyro..[+]
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focal segmental glomerulosclerosis 3 |
FSGS3
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A focal segmental glomerulosclerosis that has_mate..[+]
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