MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen

Bullous lichen planus

ORPHA:33408Kr.
Autosomal dominant, Not applicable

Bullous pemphigoid

ORPHA:703Kr.
Not applicable

Bullous pyoderma gangrenosum

ORPHA:538869Kl. subt.
Multigenic/multifactorial

Burkitt lymphoma

ORPHA:543Kr.
Not applicable

Burn-McKeown syndrome

ORPHA:1200Malf.
Autosomal recessive

Burning mouth syndrome

ORPHA:353253Kr.

Butterfly-shaped pigment dystrophy

ORPHA:99001Kr.
Autosomal dominant

Böök syndrome

ORPHA:1262Malf.
Autosomal dominant

C syndrome

ORPHA:1308Malf.
Not applicable, Unknown

C11ORF73-related autosomal recessive hypomyelinating leukodystrophy

ORPHA:495844Kr.
Autosomal recessive

C12ORF65-related combined oxidative phosphorylation defect

ORPHA:497623Kl. gruppe

C3 glomerulonephritis

ORPHA:329931His. subt.
Autosomal dominant

C3 glomerulopathy

ORPHA:329918Kl. subt.
Multigenic/multifactorial

CACH syndrome

ORPHA:135Kr.
Autosomal recessive

CAD-CDG

ORPHA:448010Kr.
Autosomal recessive

CADDS

ORPHA:369942Kr.
X-linked recessive

CADINS disease

ORPHA:619972Kr.
Autosomal dominant

CAMOS syndrome

ORPHA:83472Malf.
Autosomal recessive

CANOMAD syndrome

ORPHA:71279Kr.

CAR T cell therapy-associated cytokine release syndrome

ORPHA:542323spez. Sit.

CARD8-related inflammatory bowel disease

ORPHA:714410Kr.
Autosomal dominant

CCDC115-CDG

ORPHA:468684Kr.
Autosomal recessive

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

ORPHA:600668Kr.
Autosomal dominant

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

ORPHA:646278Kr.
Autosomal dominant