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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Заболевания
4,552Гены
8,700Фенотипы

Congenital unilateral hypoplasia of depressor anguli oris

ORPHA:1166Морф.
Autosomal dominant

Congenital urachal anomaly

ORPHA:435743Кат.

Congenital varicella syndrome

ORPHA:291Заболевание
Not applicable

Congenital velopharyngeal incompetence

ORPHA:2291Морф.
Autosomal dominant

Congenital vertebral-cardiac-renal anomalies syndrome

ORPHA:521438Порок
Autosomal recessive

Congenital vertical talus

ORPHA:178382Морф.
Autosomal dominant

Congenital vertical talus, bilateral

ORPHA:295203Клин. подт.
Autosomal dominant

Congenital vertical talus, unilateral

ORPHA:295201Клин. подт.
Autosomal dominant

Congenital-onset Steinert myotonic dystrophy

ORPHA:589821Клин. подт.
Autosomal dominant

Congenitally corrected transposition of the great arteries

ORPHA:216694Морф.
Not applicable

Congenitally short costocoracoid ligament

ORPHA:2391Порок
Autosomal dominant

Congenitally uncorrected transposition of the great arteries

ORPHA:860Морф.
Multigenic/multifactorial, Not applicable

Congenitally uncorrected transposition of the great arteries with cardiac malformation

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

Congenitally uncorrected transposition of the great arteries with coarctation

ORPHA:99042Клин. подт.
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:420794Порок
Autosomal recessive

Constitutional dyserythropoietic anemia

ORPHA:293830Кат.

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:436003Порок
Unknown

Contractures-ectodermal dysplasia-cleft lip/palate syndrome

ORPHA:1484Порок
Autosomal recessive, X-linked recessive

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

ORPHA:314002Порок
No data available

Cooks syndrome

ORPHA:1487Порок
Autosomal dominant