MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Self-improving dystrophic epidermolysis bullosa

ORPHA:79411Заболевание
Autosomal dominant, Autosomal recessive

Self-limited childhood occipital epilepsy

ORPHA:25968Заболевание
Not applicable

Self-limited epilepsy with autonomic seizures

ORPHA:98815Клин. подтип

Self-limited epilepsy with centrotemporal spikes

ORPHA:1945Заболевание
Autosomal dominant

Self-limited infantile epilepsy

ORPHA:306Заболевание
Autosomal dominant

Self-limited neonatal epilepsy

ORPHA:1949Заболевание
Autosomal dominant

Self-limited neonatal-infantile epilepsy

ORPHA:140927Заболевание
Autosomal dominant

Semantic dementia

ORPHA:100069Заболевание
Multigenic/multifactorial, Not applicable

Semicircular canal dehiscence syndrome

ORPHA:420402Clinical syndrome
Not applicable

Semilobar holoprosencephaly

ORPHA:220386Клин. подтип
Multigenic/multifactorial, Not applicable

Senior-Boichis syndrome

ORPHA:84081Заболевание
Autosomal recessive

Senior-Loken syndrome

ORPHA:3156Заболевание
Autosomal recessive

Sensorineural deafness with dilated cardiomyopathy

ORPHA:217622Заболевание
Autosomal dominant

Sensorineural hearing loss-early graying-essential tremor syndrome

ORPHA:66633Заболевание
Autosomal dominant

Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome

ORPHA:659975Мальформация
Autosomal recessive

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

ORPHA:70595Заболевание
Autosomal recessive

Sepsis in premature infants

ORPHA:90051Особая клин. ситуация
Not applicable

Septo-optic dysplasia spectrum

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

Septopreoptic holoprosencephaly

ORPHA:280195Клин. подтип
Multigenic/multifactorial

Serine biosynthesis pathway deficiency, infantile/juvenile form

ORPHA:583595Заболевание

Seromucinous cystadenoma of childhood

ORPHA:563676Гист. подтип

Seronegative autoimmune hepatitis

ORPHA:563589Клин. подтип

Serotonin syndrome

ORPHA:43116Заболевание
Not applicable

Serous carcinoma of the corpus uteri

ORPHA:213726Заболевание