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Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4 552Гены
8 700Фенотипы
Найдено 3,968 заболеваний (Disease) Сброс

Secondary pulmonary alveolar proteinosis

ORPHA:420259Disease
Not applicable

Secondary sclerosing cholangitis

ORPHA:447774Disease
Not applicable

Secondary short bowel syndrome

ORPHA:95427Disease
Not applicable

Secondary syringomyelia

ORPHA:99857Disease

Segmental odontomaxillary dysplasia

ORPHA:67039Disease
Not applicable

Segmental progressive overgrowth syndrome with fibroadipose hyperplasia

ORPHA:314662Disease
Not applicable

Seizures-intellectual disability due to hydroxylysinuria syndrome

ORPHA:79156Disease
Autosomal recessive

Seizures-scoliosis-macrocephaly syndrome

ORPHA:466926Disease
Autosomal recessive

Selective IgM deficiency

ORPHA:331235Disease

Selective intrauterine growth restriction

ORPHA:617301Disease

Self-healing papular mucinosis

ORPHA:90397Disease

Self-improving collodion baby

ORPHA:281122Disease
Autosomal recessive

Self-improving dystrophic epidermolysis bullosa

ORPHA:79411Disease
Autosomal dominant, Autosomal recessive

Self-limited childhood occipital epilepsy

ORPHA:25968Disease
Not applicable

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

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

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome

ORPHA:70595Disease
Autosomal recessive