MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Inherited epidermodysplasia verruciformis

ORPHA:302Заболевание
Autosomal recessive

Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency

ORPHA:289548Заболевание
Autosomal recessive

Inherited isolated arrhythmogenic cardiomyopathy

ORPHA:217656Заболевание
Autosomal dominant

Insulin autoimmune syndrome

ORPHA:411593Заболевание
Not applicable

Insulin-resistance syndrome type A

ORPHA:2297Заболевание
Autosomal dominant, Autosomal recessive

Insulin-resistance syndrome type B

ORPHA:2298Заболевание
Not applicable

Insulinoma

ORPHA:97279Заболевание
Not applicable

Intellectual disability-alacrima-achalasia syndrome

ORPHA:289483Заболевание
X-linked recessive

Intellectual disability-cupped ears syndrome

ORPHA:656135Заболевание
Autosomal dominant

Intellectual disability-epilepsy-extrapyramidal syndrome

ORPHA:468620Заболевание
Autosomal recessive

Intellectual disability-hyperkinetic movement-truncal ataxia syndrome

ORPHA:369847Заболевание
Autosomal recessive

Intellectual disability-myopathy-short stature-endocrine defect syndrome

ORPHA:3068Заболевание

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome

ORPHA:352530Заболевание
Autosomal recessive

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

ORPHA:397973Заболевание
Autosomal recessive

Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome

ORPHA:513456Заболевание
Autosomal dominant

Intellectual disability-seizures-macrocephaly-obesity syndrome

ORPHA:369950Заболевание
Not applicable, Unknown

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

ORPHA:662829Заболевание
Autosomal dominant

Intellectual disability-strabismus syndrome

ORPHA:363528Заболевание
Autosomal recessive

Interdigitating dendritic cell sarcoma

ORPHA:86900Заболевание

Intermediate DEND syndrome

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

Intermediate collagen VI-related muscular dystrophy

ORPHA:646113Заболевание
Autosomal dominant, Autosomal recessive

Intermediate epidermolysis bullosa simplex with cardiomyopathy

ORPHA:508529Заболевание
Autosomal dominant

Intermediate generalized junctional epidermolysis bullosa

ORPHA:79402Заболевание
Autosomal recessive

Intermediate nemaline myopathy

ORPHA:171433Заболевание
Autosomal dominant, Autosomal recessive