MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Isolated cerebellar vermis agenesis

ORPHA:269203Морф. аномалия

Isolated childhood apraxia of speech

ORPHA:209908Заболевание
Autosomal dominant

Isolated cleft lip

ORPHA:199302Морф. аномалия
Multigenic/multifactorial

Isolated colonic duplication

ORPHA:662392Морф. аномалия
Not applicable

Isolated complex I deficiency

ORPHA:2609Заболевание
Autosomal recessive, Mitochondrial inheritance, X-linked dominant

Isolated complex III deficiency

ORPHA:1460Заболевание
Autosomal recessive, Mitochondrial inheritance

Isolated congenital adermatoglyphia

ORPHA:289465Заболевание
Autosomal dominant

Isolated congenital alacrima

ORPHA:91416Заболевание
Autosomal dominant, Autosomal recessive

Isolated congenital anonychia

ORPHA:79143Заболевание
Autosomal dominant, Autosomal recessive

Isolated congenital anosmia

ORPHA:88620Заболевание
Autosomal dominant, X-linked recessive

Isolated congenital breast hypoplasia/aplasia

ORPHA:180188Морф. аномалия
Autosomal recessive

Isolated congenital cholesteatoma of the middle ear

ORPHA:686556Морф. аномалия
Unknown

Isolated congenital hepatic fibrosis

ORPHA:485426Заболевание

Isolated congenital hypoglossia/aglossia

ORPHA:141152Морф. аномалия

Isolated congenital hypogonadotropic hypogonadism

ORPHA:238666Заболевание
Autosomal dominant, Autosomal recessive, Oligogenic, Unknown, X-linked recessive

Isolated congenital laryngeal web

ORPHA:2374Мальформация

Isolated congenital megalocornea

ORPHA:91489Морф. аномалия
X-linked recessive

Isolated congenital microcephaly

ORPHA:199642Мальформация

Isolated congenital nasal pyriform aperture stenosis

ORPHA:162516Мальформация

Isolated congenital onychodysplasia

ORPHA:79144Заболевание

Isolated congenital sclerocornea

ORPHA:91490Морф. аномалия
Autosomal dominant

Isolated congenital syngnathia

ORPHA:141214Мальформация

Isolated congenitally uncorrected transposition of the great arteries

ORPHA:216718Клин. подтип
Multigenic/multifactorial, Not applicable

Isolated corpus callosum agenesis

ORPHA:200Морф. аномалия
Not applicable