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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Inherited epidermodysplasia verruciformis

ORPHA:302Disease
Autosomal recessive

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

ORPHA:289548Disease
Autosomal recessive

Inherited isolated arrhythmogenic cardiomyopathy

ORPHA:217656Disease
Autosomal dominant

Insulin autoimmune syndrome

ORPHA:411593Disease
Not applicable

Insulin-resistance syndrome type A

ORPHA:2297Disease
Autosomal dominant, Autosomal recessive

Insulin-resistance syndrome type B

ORPHA:2298Disease
Not applicable

Insulinoma

ORPHA:97279Disease
Not applicable

Intellectual disability-alacrima-achalasia syndrome

ORPHA:289483Disease
X-linked recessive

Intellectual disability-cupped ears syndrome

ORPHA:656135Disease
Autosomal dominant

Intellectual disability-epilepsy-extrapyramidal syndrome

ORPHA:468620Disease
Autosomal recessive

Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

ORPHA:369847Disease
Autosomal recessive

Intellectual disability-myopathy-short stature-endocrine defect syndrome

ORPHA:3068Disease

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

ORPHA:352530Disease
Autosomal recessive

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

ORPHA:397973Disease
Autosomal recessive

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

ORPHA:513456Disease
Autosomal dominant

Intellectual disability-seizures-macrocephaly-obesity syndrome

ORPHA:369950Disease
Not applicable, Unknown

Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome

ORPHA:662829Disease
Autosomal dominant

Intellectual disability-strabismus syndrome

ORPHA:363528Disease
Autosomal recessive

Interdigitating dendritic cell sarcoma

ORPHA:86900Disease

Intermediate DEND syndrome

ORPHA:99989Disease
Autosomal dominant, Autosomal recessive, Not applicable

Intermediate collagen VI-related muscular dystrophy

ORPHA:646113Disease
Autosomal dominant, Autosomal recessive

Intermediate epidermolysis bullosa simplex with cardiomyopathy

ORPHA:508529Disease
Autosomal dominant

Intermediate generalized junctional epidermolysis bullosa

ORPHA:79402Disease
Autosomal recessive

Intermediate nemaline myopathy

ORPHA:171433Disease
Autosomal dominant, Autosomal recessive