MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
727 diseases matched (Clin. sub.) Reset

Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency

ORPHA:700333Clin. sub.
Autosomal recessive

Iatrogenic botulism

ORPHA:254509Clin. sub.

Idiopathic acute transverse myelitis

ORPHA:139423Clin. sub.
Not applicable

Idiopathic multicentric Castleman disease

ORPHA:570431Clin. sub.

Idiopathic multidrug-resistant nephrotic syndrome

ORPHA:567550Clin. sub.

Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy

ORPHA:567552Clin. sub.

IgG4-related aortitis

ORPHA:449400Clin. sub.
Not applicable

IgG4-related dacryoadenitis and sialadenitis

ORPHA:79078Clin. sub.
Not applicable

IgG4-related kidney disease

ORPHA:449395Clin. sub.
Not applicable

IgG4-related mediastinitis

ORPHA:63999Clin. sub.
Not applicable

IgG4-related mesenteritis

ORPHA:238593Clin. sub.
Not applicable

IgG4-related ophthalmic disease

ORPHA:449563Clin. sub.
Not applicable

IgG4-related pachymeningitis

ORPHA:449427Clin. sub.
Not applicable

IgG4-related retroperitoneal fibrosis

ORPHA:49041Clin. sub.
Not applicable, Unknown

IgG4-related sclerosing cholangitis

ORPHA:447764Clin. sub.
Not applicable

IgG4-related submandibular gland disease

ORPHA:449432Clin. sub.
Not applicable

IgG4-related thyroid disease

ORPHA:64744Clin. sub.
Not applicable

Immune hydrops fetalis

ORPHA:364013Clin. sub.
Not applicable

Immune-mediated thrombotic thrombocytopenic purpura

ORPHA:93585Clin. sub.
Multigenic/multifactorial

Immunoglobulin-mediated membranoproliferative glomerulonephritis

ORPHA:329903Clin. sub.
Multigenic/multifactorial, Unknown

Incomplete congenital stationary night blindness, Schubert-Bornschein type

ORPHA:714070Clin. sub.
Autosomal recessive, X-linked recessive

Infant botulism

ORPHA:178478Clin. sub.

Infantile CLN1 disease

ORPHA:699718Clin. sub.
Autosomal recessive

Infantile CLN2 disease

ORPHA:699751Clin. sub.
Autosomal recessive