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Disease Synonyms Description Articles Phenotypes
Ehlers-Danlos syndrome hypermobility type
Ehlers-Danlos syndrome, type 3 (disorder); Ehlers-.. [+]
An Ehlers-Danlos syndrome that is characterized by..[+]
Ehlers-Danlos syndrome kyphoscoliotic type 1
An Ehlers-Danlos syndrome that is characterized by..[+]
Ehlers-Danlos syndrome kyphoscoliotic type 2
An Ehlers-Danlos syndrome that is characterized by..[+]
Ehlers-Danlos syndrome musculocontractural type 1
An Ehlers-Danlos syndrome that is characterized by..[+]
Ehlers-Danlos syndrome musculocontractural type 2
An Ehlers-Danlos syndrome that is characterized by..[+]
Ehlers-Danlos syndrome periodontal type 1
An Ehlers-Danlos syndrome that is characterized by..[+]
Ehlers-Danlos syndrome periodontal type 2
An Ehlers-Danlos syndrome that has_material_basis_..[+]
Ehlers-Danlos syndrome spondylodysplastic type 1
An Ehlers-Danlos syndrome that is characterized by..[+]
Ehlers-Danlos syndrome spondylodysplastic type 2
XGPT deficiency; xylosylprotein 4-beta-galactosylt.. [+]
An Ehlers-Danlos syndrome that is characterized by..[+]
Ehlers-Danlos syndrome spondylodysplastic type 3
An Ehlers-Danlos syndrome that has_material_basis_..[+]
Ehrlich tumor carcinoma
Ehrlich's tumor; Ehrlich tumour carcinoma; Ehrlich.. [+]
n_a
Eiken syndrome
bone modeling defect of hands and feet; Eiken skel.. [+]
A bone development disease characterized by severe..[+]
Ellis-Van Creveld syndrome
Chondroectodermal dysplasia (disorder); mesoectode.. [+]
A syndrome characterized by short limbs, short rib..[+]
Elsahy-Waters syndrome
branchioskeletogenital syndrome;
A syndrome that is characterized by brachycephaly,..[+]
Emery-Dreifuss muscular dystrophy
EDMD;
A muscular dystrophy that chiefly affects muscles ..[+]
4 articles
Epstein-Barr virus hepatitis
A viral hepatitis that results_in inflammation, lo..[+]
Epstein-Barr virus infectious disease
EBV Infection; Epstein-Barr virus infection (disor.. [+]
A viral infectious disease that has_material_basis..[+]
Erdheim-Chester disease
A non-Langerhans-cell histiocytosis that is charac..[+]
Evans' syndrome
n_a
Ewing sarcoma
Ewing's sarcoma/peripheral primitive neuroectoderm.. [+]
A connective tissue cancer that has_material_basis..[+]
Ewing sarcoma of bone
bone Ewing's sarcoma; bone localized Ewing sarcoma.. [+]
A peripheral primitive neuroectodermal tumor that ..[+]
FG syndrome
Keller syndrome; Opitz-Kaveggia syndrome;
A syndrome characterized by retardation, hyperacti..[+]
Fabry disease
Alpha-galactosidase A deficiency; Angiokeratoma Co.. [+]
A sphingolipidosis that is characterized by the bu..[+]
Fanconi anemia
Fanconi panmyelopathy; Fanconi pancytopenia; Fanco.. [+]
A congenital hypoplastic anemia characterized by p..[+]
13 articles
Fanconi anemia complementation group A
FANCA;
A Fanconi anemia that has_material_basis_in homozy..[+]
1 articles
Fanconi anemia complementation group B
FA2; FACB; Fanconi pancytopenia type 2; FANCB;
A Fanconi anemia that has_material_basis_in mutati..[+]
Fanconi anemia complementation group C
FACC; FANCC; Fanconi pancytopenia type 3; FA3;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group D1
FAD1; FANCD1;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group D2
FA4; FANCD2; Fanconi pancytopenia type 4; FAD2;
A Fanconi anemia that has_material_basis_in compou..[+]
Fanconi anemia complementation group E
FACE; FANCE;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group F
FANCF;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group G
FANCG;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group I
FANCI;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group J
FANCJ;
A Fanconi anemia that has_material_basis_in homozy..[+]
1 articles
Fanconi anemia complementation group L
FANCL;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group N
FANCN;
A Fanconi anemia that has_material_basis_in compou..[+]
Fanconi anemia complementation group O
FANCO;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group P
FANCP;
A Fanconi anemia characterized by increased chromo..[+]
Fanconi anemia complementation group Q
FANCQ;
A Fanconi anemia that has_material_basis_in compou..[+]
Fanconi anemia complementation group R
FANCR;
A Fanconi anemia that has_material_basis_in hetero..[+]
1 articles
Fanconi anemia complementation group S
A Fanconi anemia characterized by developmental de..[+]
Fanconi anemia complementation group T
FANCT;
A Fanconi anemia that has_material_basis_in compou..[+]
Fanconi anemia complementation group U
FANCU;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group V
FANCV;
A Fanconi anemia that has_material_basis_in homozy..[+]
Fanconi anemia complementation group W
A Fanconi anemia that has_material_basis_in compou..[+]
Fanconi renotubular syndrome 1
A Fanconi syndrome that has_material_basis_in hete..[+]
Fanconi renotubular syndrome 2
A Fanconi syndrome that has_material_basis_in homo..[+]
Fanconi renotubular syndrome 3
A Fanconi syndrome that is characterized by charac..[+]
Fanconi renotubular syndrome 4
A Fanconi syndrome that has_material_basis_in hete..[+]
Fanconi renotubular syndrome 5
Acadian-variant Fanconi syndrome;
A Fanconi syndrome that is characterized by proxim..[+]

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