MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Bullous lichen planus

ORPHA:33408Disease
Autosomal dominant, Not applicable

Bullous pemphigoid

ORPHA:703Disease
Not applicable

Bullous pyoderma gangrenosum

ORPHA:538869Clin. sub.
Multigenic/multifactorial

Burkitt lymphoma

ORPHA:543Disease
Not applicable

Burn-McKeown syndrome

ORPHA:1200Malform.
Autosomal recessive

Burning mouth syndrome

ORPHA:353253Disease

Butterfly-shaped pigment dystrophy

ORPHA:99001Disease
Autosomal dominant

Böök syndrome

ORPHA:1262Malform.
Autosomal dominant

C syndrome

ORPHA:1308Malform.
Not applicable, Unknown

C11ORF73-related autosomal recessive hypomyelinating leukodystrophy

ORPHA:495844Disease
Autosomal recessive

C12ORF65-related combined oxidative phosphorylation defect

ORPHA:497623Clin. grp.

C3 glomerulonephritis

ORPHA:329931Hist. sub.
Autosomal dominant

C3 glomerulopathy

ORPHA:329918Clin. sub.
Multigenic/multifactorial

CACH syndrome

ORPHA:135Disease
Autosomal recessive

CAD-CDG

ORPHA:448010Disease
Autosomal recessive

CADDS

ORPHA:369942Disease
X-linked recessive

CADINS disease

ORPHA:619972Disease
Autosomal dominant

CAMOS syndrome

ORPHA:83472Malform.
Autosomal recessive

CANOMAD syndrome

ORPHA:71279Disease

CAR T cell therapy-associated cytokine release syndrome

ORPHA:542323Situation

CARD8-related inflammatory bowel disease

ORPHA:714410Disease
Autosomal dominant

CCDC115-CDG

ORPHA:468684Disease
Autosomal recessive

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

ORPHA:600668Disease
Autosomal dominant

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

ORPHA:646278Disease
Autosomal dominant