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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы
Найдено 1,772 заболеваний (Порок) Сброс

Gorlin syndrome

ORPHA:377Порок
Autosomal dominant

Grange syndrome

ORPHA:79094Порок
Autosomal dominant, Autosomal recessive

Grant syndrome

ORPHA:2097Порок
Unknown

Greig cephalopolysyndactyly syndrome

ORPHA:380Порок
Autosomal dominant

Greig cephalopolysyndactyly-contiguous gene syndrome

ORPHA:658805Порок

Growth delay-hydrocephaly-lung hypoplasia syndrome

ORPHA:3035Порок

Grubben-de Cock-Borghgraef syndrome

ORPHA:2101Порок

Guttmacher syndrome

ORPHA:2957Порок
Autosomal dominant

Gómez-López-Hernández syndrome

ORPHA:1532Порок
Not applicable

H syndrome

ORPHA:168569Порок
Autosomal recessive

HEC syndrome

ORPHA:2119Порок
Unknown

HIDEA syndrome

ORPHA:436141Порок
Autosomal recessive

Haddad syndrome

ORPHA:99803Порок
Autosomal dominant, Multigenic/multifactorial

Hajdu-Cheney syndrome

ORPHA:955Порок
Autosomal dominant

Hall-Riggs syndrome

ORPHA:2107Порок
Autosomal recessive

Hallermann-Streiff syndrome

ORPHA:2108Порок
Not applicable, Unknown

Hallermann-Streiff-like syndrome

ORPHA:2109Порок

Hallux varus-preaxial polysyndactyly syndrome

ORPHA:2110Порок

Hand-foot-genital syndrome

ORPHA:2438Порок
Autosomal dominant

Hardikar syndrome

ORPHA:1415Порок
X-linked dominant

Harrod syndrome

ORPHA:2115Порок

Hartsfield syndrome

ORPHA:2117Порок
Autosomal dominant, Autosomal recessive

Hearing loss-familial salivary gland insensitivity to aldosterone syndrome

ORPHA:3225Порок

Heart defect-tongue hamartoma-polysyndactyly syndrome

ORPHA:1338Порок
Autosomal recessive