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

Congenital myopathy, Paradas type

ORPHA:199329Заболевание
Autosomal recessive

Congenital nephrotic syndrome, Finnish type

ORPHA:839Заболевание
Autosomal recessive

Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency

ORPHA:619941Заболевание
Autosomal recessive

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

ORPHA:369852Заболевание
Autosomal recessive

Congenital oculomotor nerve palsy

ORPHA:440221Заболевание
Not applicable

Congenital panfollicular nevus

ORPHA:139414Заболевание

Congenital plasminogen activator inhibitor type 1 deficiency

ORPHA:465Заболевание
Autosomal recessive

Congenital prekallikrein deficiency

ORPHA:749Заболевание
Autosomal recessive

Congenital primary lymphedema of Gordon

ORPHA:569821Заболевание
Autosomal dominant

Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome

ORPHA:508542Заболевание
Autosomal recessive

Congenital pseudoarthrosis of the clavicle

ORPHA:66630Заболевание
Not applicable

Congenital ptosis

ORPHA:91411Заболевание
Autosomal dominant, X-linked recessive

Congenital pulmonary lymphangiectasia

ORPHA:2414Заболевание
Autosomal recessive

Congenital renal artery stenosis

ORPHA:97598Заболевание

Congenital reticular ichthyosiform erythroderma

ORPHA:281190Заболевание
Autosomal dominant

Congenital rubella syndrome

ORPHA:290Заболевание
Not applicable

Congenital short QT syndrome

ORPHA:51083Заболевание
Autosomal dominant

Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome

ORPHA:369861Заболевание
Autosomal recessive

Congenital smooth muscle hamartoma

ORPHA:263435Заболевание
Not applicable

Congenital sodium diarrhea

ORPHA:103908Заболевание
Autosomal dominant, Autosomal recessive

Congenital stationary night blindness, Riggs type

ORPHA:714096Заболевание
Autosomal dominant, Autosomal recessive

Congenital stationary night blindness, Schubert-Bornschein type

ORPHA:714090Заболевание
Autosomal recessive, X-linked recessive

Congenital stromal corneal dystrophy

ORPHA:101068Заболевание
Autosomal dominant

Congenital sucrase-isomaltase deficiency

ORPHA:35122Заболевание
Autosomal recessive