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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

Aymé-Gripp syndrome

ORPHA:1272Порок
Autosomal recessive

BNAR syndrome

ORPHA:217266Порок
Autosomal recessive

BOR syndrome

ORPHA:107Порок
Autosomal dominant

BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome

ORPHA:686482Порок
Autosomal dominant

BRESEK syndrome

ORPHA:85284Порок
X-linked dominant

Baller-Gerold syndrome

ORPHA:1225Порок
Autosomal recessive

Bamforth-Lazarus syndrome

ORPHA:1226Порок
Autosomal recessive

Bangstad syndrome

ORPHA:1227Порок
Autosomal recessive

Banki syndrome

ORPHA:1228Порок
Autosomal dominant

Baraitser-Winter cerebrofrontofacial syndrome

ORPHA:2995Порок
Autosomal dominant, Not applicable

Barber-Say syndrome

ORPHA:1231Порок
Autosomal dominant, Autosomal recessive, Not applicable

Bartsocas-Papas syndrome

ORPHA:1234Порок
Autosomal recessive

Basel-Vanagaite-Smirin-Yosef syndrome

ORPHA:464738Порок
Autosomal recessive

Beckwith-Wiedemann syndrome

ORPHA:116Порок
Autosomal dominant, Unknown

Beemer-Ertbruggen syndrome

ORPHA:1237Порок
Autosomal recessive

Behr syndrome

ORPHA:1239Порок
Autosomal recessive

Bencze syndrome

ORPHA:1241Порок
Autosomal dominant

Bifid nose

ORPHA:2695Порок
Autosomal dominant, Autosomal recessive

Bilateral microtia-deafness-cleft palate syndrome

ORPHA:140963Порок
Autosomal dominant, Autosomal recessive

Biliary atresia with splenic malformation syndrome

ORPHA:244283Порок
Multigenic/multifactorial

Birt-Hogg-Dubé syndrome

ORPHA:122Порок
Autosomal dominant

Blepharo-cheilo-odontic syndrome

ORPHA:1997Порок
Autosomal dominant

Blepharonasofacial malformation syndrome

ORPHA:1252Порок
Autosomal dominant, X-linked dominant

Blepharophimosis-intellectual disability syndrome, MKB type

ORPHA:293707Порок
X-linked recessive