MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Bullous lichen planus

ORPHA:33408Заболевание
Autosomal dominant, Not applicable

Bullous pemphigoid

ORPHA:703Заболевание
Not applicable

Bullous pyoderma gangrenosum

ORPHA:538869Клин. подтип
Multigenic/multifactorial

Burkitt lymphoma

ORPHA:543Заболевание
Not applicable

Burn-McKeown syndrome

ORPHA:1200Мальформация
Autosomal recessive

Burning mouth syndrome

ORPHA:353253Заболевание

Butterfly-shaped pigment dystrophy

ORPHA:99001Заболевание
Autosomal dominant

Böök syndrome

ORPHA:1262Мальформация
Autosomal dominant

C syndrome

ORPHA:1308Мальформация
Not applicable, Unknown

C11ORF73-related autosomal recessive hypomyelinating leukodystrophy

ORPHA:495844Заболевание
Autosomal recessive

C12ORF65-related combined oxidative phosphorylation defect

ORPHA:497623Клин. группа

C3 glomerulonephritis

ORPHA:329931Гист. подтип
Autosomal dominant

C3 glomerulopathy

ORPHA:329918Клин. подтип
Multigenic/multifactorial

CACH syndrome

ORPHA:135Заболевание
Autosomal recessive

CAD-CDG

ORPHA:448010Заболевание
Autosomal recessive

CADDS

ORPHA:369942Заболевание
X-linked recessive

CADINS disease

ORPHA:619972Заболевание
Autosomal dominant

CAMOS syndrome

ORPHA:83472Мальформация
Autosomal recessive

CANOMAD syndrome

ORPHA:71279Заболевание

CAR T cell therapy-associated cytokine release syndrome

ORPHA:542323Особая клин. ситуация

CARD8-related inflammatory bowel disease

ORPHA:714410Заболевание
Autosomal dominant

CCDC115-CDG

ORPHA:468684Заболевание
Autosomal recessive

CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome

ORPHA:600668Заболевание
Autosomal dominant

CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome

ORPHA:646278Заболевание
Autosomal dominant