MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 3,968 заболеваний (Ауру) Қалпына келтіру

Congenital myopathy, Paradas type

ORPHA:199329Ауру
Autosomal recessive

Congenital nephrotic syndrome, Finnish type

ORPHA:839Ауру
Autosomal recessive

Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency

ORPHA:619941Ауру
Autosomal recessive

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

ORPHA:369852Ауру
Autosomal recessive

Congenital oculomotor nerve palsy

ORPHA:440221Ауру
Not applicable

Congenital panfollicular nevus

ORPHA:139414Ауру

Congenital plasminogen activator inhibitor type 1 deficiency

ORPHA:465Ауру
Autosomal recessive

Congenital prekallikrein deficiency

ORPHA:749Ауру
Autosomal recessive

Congenital primary lymphedema of Gordon

ORPHA:569821Ауру
Autosomal dominant

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

ORPHA:508542Ауру
Autosomal recessive

Congenital pseudoarthrosis of the clavicle

ORPHA:66630Ауру
Not applicable

Congenital ptosis

ORPHA:91411Ауру
Autosomal dominant, X-linked recessive

Congenital pulmonary lymphangiectasia

ORPHA:2414Ауру
Autosomal recessive

Congenital renal artery stenosis

ORPHA:97598Ауру

Congenital reticular ichthyosiform erythroderma

ORPHA:281190Ауру
Autosomal dominant

Congenital rubella syndrome

ORPHA:290Ауру
Not applicable

Congenital short QT syndrome

ORPHA:51083Ауру
Autosomal dominant

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

ORPHA:369861Ауру
Autosomal recessive

Congenital smooth muscle hamartoma

ORPHA:263435Ауру
Not applicable

Congenital sodium diarrhea

ORPHA:103908Ауру
Autosomal dominant, Autosomal recessive

Congenital stationary night blindness, Riggs type

ORPHA:714096Ауру
Autosomal dominant, Autosomal recessive

Congenital stationary night blindness, Schubert-Bornschein type

ORPHA:714090Ауру
Autosomal recessive, X-linked recessive

Congenital stromal corneal dystrophy

ORPHA:101068Ауру
Autosomal dominant

Congenital sucrase-isomaltase deficiency

ORPHA:35122Ауру
Autosomal recessive