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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Aymé-Gripp syndrome

ORPHA:1272Malform.
Autosomal recessive

BNAR syndrome

ORPHA:217266Malform.
Autosomal recessive

BOR syndrome

ORPHA:107Malform.
Autosomal dominant

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

ORPHA:686482Malform.
Autosomal dominant

BRESEK syndrome

ORPHA:85284Malform.
X-linked dominant

Baller-Gerold syndrome

ORPHA:1225Malform.
Autosomal recessive

Bamforth-Lazarus syndrome

ORPHA:1226Malform.
Autosomal recessive

Bangstad syndrome

ORPHA:1227Malform.
Autosomal recessive

Banki syndrome

ORPHA:1228Malform.
Autosomal dominant

Baraitser-Winter cerebrofrontofacial syndrome

ORPHA:2995Malform.
Autosomal dominant, Not applicable

Barber-Say syndrome

ORPHA:1231Malform.
Autosomal dominant, Autosomal recessive, Not applicable

Bartsocas-Papas syndrome

ORPHA:1234Malform.
Autosomal recessive

Basel-Vanagaite-Smirin-Yosef syndrome

ORPHA:464738Malform.
Autosomal recessive

Beckwith-Wiedemann syndrome

ORPHA:116Malform.
Autosomal dominant, Unknown

Beemer-Ertbruggen syndrome

ORPHA:1237Malform.
Autosomal recessive

Behr syndrome

ORPHA:1239Malform.
Autosomal recessive

Bencze syndrome

ORPHA:1241Malform.
Autosomal dominant

Bifid nose

ORPHA:2695Malform.
Autosomal dominant, Autosomal recessive

Bilateral microtia-deafness-cleft palate syndrome

ORPHA:140963Malform.
Autosomal dominant, Autosomal recessive

Biliary atresia with splenic malformation syndrome

ORPHA:244283Malform.
Multigenic/multifactorial

Birt-Hogg-Dubé syndrome

ORPHA:122Malform.
Autosomal dominant

Blepharo-cheilo-odontic syndrome

ORPHA:1997Malform.
Autosomal dominant

Blepharonasofacial malformation syndrome

ORPHA:1252Malform.
Autosomal dominant, X-linked dominant

Blepharophimosis-intellectual disability syndrome, MKB type

ORPHA:293707Malform.
X-linked recessive