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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы

Frontal encephalocele

ORPHA:1931Clin. sub.

Frontal fibrosing alopecia

ORPHA:254492Disease

Frontofacionasal dysplasia

ORPHA:1791Malform.

Frontometaphyseal dysplasia

ORPHA:1826Disease
Autosomal dominant, X-linked dominant

Frontonasal dysplasia

ORPHA:250Clin. grp.
Not applicable

Frontonasal dysplasia-alopecia-genital anomalies syndrome

ORPHA:228390Malform.
Autosomal recessive

Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome

ORPHA:521308Malform.

Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome

ORPHA:306542Malform.
Autosomal recessive

Frontorhiny

ORPHA:391474Malform.
Autosomal recessive

Frontotemporal dementia

ORPHA:282Clin. grp.
Autosomal dominant

Frontotemporal dementia with motor neuron disease

ORPHA:275872Disease
Autosomal dominant

Fructose-1,6-bisphosphatase deficiency

ORPHA:348Disease
Autosomal recessive

Fryns syndrome

ORPHA:2059Malform.
Autosomal recessive

Fryns-Smeets-Thiry syndrome

ORPHA:2058Malform.

Fuchs endothelial corneal dystrophy

ORPHA:98974Disease
Autosomal dominant, Multigenic/multifactorial, Not applicable

Fuchs heterochromic iridocyclitis

ORPHA:263479Disease

Fucosidosis

ORPHA:349Disease
Autosomal recessive

Fuhrmann syndrome

ORPHA:2854Malform.
Autosomal recessive

Fukutin-related limb-girdle muscular dystrophy R13

ORPHA:206554Disease
Autosomal recessive

Full NF2-related schwannomatosis

ORPHA:637Disease
Autosomal dominant

Full schwannomatosis

ORPHA:93921Disease
Autosomal dominant

Fumaric aciduria

ORPHA:24Disease
Autosomal recessive

Functional variant of Guillain-Barré syndrome

ORPHA:231419Clin. grp.
Multigenic/multifactorial, Not applicable

Functioning gonadotropic adenoma

ORPHA:91348Disease