MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Self-improving dystrophic epidermolysis bullosa

ORPHA:79411Disease
Autosomal dominant, Autosomal recessive

Self-limited childhood occipital epilepsy

ORPHA:25968Disease
Not applicable

Self-limited epilepsy with autonomic seizures

ORPHA:98815Clin. sub.

Self-limited epilepsy with centrotemporal spikes

ORPHA:1945Disease
Autosomal dominant

Self-limited infantile epilepsy

ORPHA:306Disease
Autosomal dominant

Self-limited neonatal epilepsy

ORPHA:1949Disease
Autosomal dominant

Self-limited neonatal-infantile epilepsy

ORPHA:140927Disease
Autosomal dominant

Semantic dementia

ORPHA:100069Disease
Multigenic/multifactorial, Not applicable

Semicircular canal dehiscence syndrome

ORPHA:420402Clinical syndrome
Not applicable

Semilobar holoprosencephaly

ORPHA:220386Clin. sub.
Multigenic/multifactorial, Not applicable

Senior-Boichis syndrome

ORPHA:84081Disease
Autosomal recessive

Senior-Loken syndrome

ORPHA:3156Disease
Autosomal recessive

Sensorineural deafness with dilated cardiomyopathy

ORPHA:217622Disease
Autosomal dominant

Sensorineural hearing loss-early graying-essential tremor syndrome

ORPHA:66633Disease
Autosomal dominant

Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome

ORPHA:659975Malform.
Autosomal recessive

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

ORPHA:70595Disease
Autosomal recessive

Sepsis in premature infants

ORPHA:90051Situation
Not applicable

Septo-optic dysplasia spectrum

ORPHA:3157Malform.
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable

Septopreoptic holoprosencephaly

ORPHA:280195Clin. sub.
Multigenic/multifactorial

Serine biosynthesis pathway deficiency, infantile/juvenile form

ORPHA:583595Disease

Seromucinous cystadenoma of childhood

ORPHA:563676Hist. sub.

Seronegative autoimmune hepatitis

ORPHA:563589Clin. sub.

Serotonin syndrome

ORPHA:43116Disease
Not applicable

Serous carcinoma of the corpus uteri

ORPHA:213726Disease