MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Congenital unilateral hypoplasia of depressor anguli oris

ORPHA:1166Морф.
Autosomal dominant

Congenital urachal anomaly

ORPHA:435743Сан.

Congenital varicella syndrome

ORPHA:291Ауру
Not applicable

Congenital velopharyngeal incompetence

ORPHA:2291Морф.
Autosomal dominant

Congenital vertebral-cardiac-renal anomalies syndrome

ORPHA:521438Мальф.
Autosomal recessive

Congenital vertical talus

ORPHA:178382Морф.
Autosomal dominant

Congenital vertical talus, bilateral

ORPHA:295203Клин. под.
Autosomal dominant

Congenital vertical talus, unilateral

ORPHA:295201Клин. под.
Autosomal dominant

Congenital-onset Steinert myotonic dystrophy

ORPHA:589821Клин. под.
Autosomal dominant

Congenitally corrected transposition of the great arteries

ORPHA:216694Морф.
Not applicable

Congenitally short costocoracoid ligament

ORPHA:2391Мальф.
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. под.
Multigenic/multifactorial, Not applicable

Congenitally uncorrected transposition of the great arteries with coarctation

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

Conjunctival malignant melanoma

ORPHA:617910Ауру

Connective tissue disorder due to lysyl hydroxylase-3 deficiency

ORPHA:300284Ауру
Not applicable

Cono-spondylar dysplasia

ORPHA:420794Мальф.
Autosomal recessive

Constitutional dyserythropoietic anemia

ORPHA:293830Сан.

Constitutional megaloblastic anemia with severe neurologic disease

ORPHA:319651Ауру
Autosomal recessive

Constitutional mismatch repair deficiency syndrome

ORPHA:252202Ауру
Autosomal recessive

Contractures-developmental delay-Pierre Robin syndrome

ORPHA:436003Мальф.
Unknown

Contractures-ectodermal dysplasia-cleft lip/palate syndrome

ORPHA:1484Мальф.
Autosomal recessive, X-linked recessive

Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome

ORPHA:314002Мальф.
No data available

Cooks syndrome

ORPHA:1487Мальф.
Autosomal dominant