MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Congenital unilateral hypoplasia of depressor anguli oris

ORPHA:1166Морф. аномалия
Autosomal dominant

Congenital urachal anomaly

ORPHA:435743Категория

Congenital varicella syndrome

ORPHA:291Заболевание
Not applicable

Congenital velopharyngeal incompetence

ORPHA:2291Морф. аномалия
Autosomal dominant

Congenital vertebral-cardiac-renal anomalies syndrome

ORPHA:521438Мальформация
Autosomal recessive

Congenital vertical talus

ORPHA:178382Морф. аномалия
Autosomal dominant

Congenital vertical talus, bilateral

ORPHA:295203Клин. подтип
Autosomal dominant

Congenital vertical talus, unilateral

ORPHA:295201Клин. подтип
Autosomal dominant

Congenital-onset Steinert myotonic dystrophy

ORPHA:589821Клин. подтип
Autosomal dominant

Congenitally corrected transposition of the great arteries

ORPHA:216694Морф. аномалия
Not applicable

Congenitally short costocoracoid ligament

ORPHA:2391Мальформация
Autosomal dominant

Congenitally uncorrected transposition of the great arteries

ORPHA:860Морф. аномалия
Multigenic/multifactorial, Not applicable

Congenitally uncorrected transposition of the great arteries with cardiac malformation

ORPHA:216729Клин. подтип
Multigenic/multifactorial, Not applicable

Congenitally uncorrected transposition of the great arteries with coarctation

ORPHA:99042Клин. подтип
Multigenic/multifactorial, Not applicable

Conjunctival malignant melanoma

ORPHA:617910Заболевание

Connective tissue disorder due to lysyl hydroxylase-3 deficiency

ORPHA:300284Заболевание
Not applicable

Cono-spondylar dysplasia

ORPHA:420794Мальформация
Autosomal recessive

Constitutional dyserythropoietic anemia

ORPHA:293830Категория

Constitutional megaloblastic anemia with severe neurologic disease

ORPHA:319651Заболевание
Autosomal recessive

Constitutional mismatch repair deficiency syndrome

ORPHA:252202Заболевание
Autosomal recessive

Contractures-developmental delay-Pierre Robin syndrome

ORPHA:436003Мальформация
Unknown

Contractures-ectodermal dysplasia-cleft lip/palate syndrome

ORPHA:1484Мальформация
Autosomal recessive, X-linked recessive

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

ORPHA:314002Мальформация
No data available

Cooks syndrome

ORPHA:1487Мальформация
Autosomal dominant