MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Self-improving dystrophic epidermolysis bullosa

ORPHA:79411Kr.
Autosomal dominant, Autosomal recessive

Self-limited childhood occipital epilepsy

ORPHA:25968Kr.
Not applicable

Self-limited epilepsy with autonomic seizures

ORPHA:98815Kl. subt.

Self-limited epilepsy with centrotemporal spikes

ORPHA:1945Kr.
Autosomal dominant

Self-limited infantile epilepsy

ORPHA:306Kr.
Autosomal dominant

Self-limited neonatal epilepsy

ORPHA:1949Kr.
Autosomal dominant

Self-limited neonatal-infantile epilepsy

ORPHA:140927Kr.
Autosomal dominant

Semantic dementia

ORPHA:100069Kr.
Multigenic/multifactorial, Not applicable

Semicircular canal dehiscence syndrome

ORPHA:420402Clinical syndrome
Not applicable

Semilobar holoprosencephaly

ORPHA:220386Kl. subt.
Multigenic/multifactorial, Not applicable

Senior-Boichis syndrome

ORPHA:84081Kr.
Autosomal recessive

Senior-Loken syndrome

ORPHA:3156Kr.
Autosomal recessive

Sensorineural deafness with dilated cardiomyopathy

ORPHA:217622Kr.
Autosomal dominant

Sensorineural hearing loss-early graying-essential tremor syndrome

ORPHA:66633Kr.
Autosomal dominant

Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome

ORPHA:659975Malf.
Autosomal recessive

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

ORPHA:70595Kr.
Autosomal recessive

Sepsis in premature infants

ORPHA:90051spez. Sit.
Not applicable

Septo-optic dysplasia spectrum

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

Septopreoptic holoprosencephaly

ORPHA:280195Kl. subt.
Multigenic/multifactorial

Serine biosynthesis pathway deficiency, infantile/juvenile form

ORPHA:583595Kr.

Seromucinous cystadenoma of childhood

ORPHA:563676His. subt.

Seronegative autoimmune hepatitis

ORPHA:563589Kl. subt.

Serotonin syndrome

ORPHA:43116Kr.
Not applicable

Serous carcinoma of the corpus uteri

ORPHA:213726Kr.