MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Isolated cerebellar vermis agenesis

ORPHA:269203Морф.

Isolated childhood apraxia of speech

ORPHA:209908Ауру
Autosomal dominant

Isolated cleft lip

ORPHA:199302Морф.
Multigenic/multifactorial

Isolated colonic duplication

ORPHA:662392Морф.
Not applicable

Isolated complex I deficiency

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

Isolated complex III deficiency

ORPHA:1460Ауру
Autosomal recessive, Mitochondrial inheritance

Isolated congenital adermatoglyphia

ORPHA:289465Ауру
Autosomal dominant

Isolated congenital alacrima

ORPHA:91416Ауру
Autosomal dominant, Autosomal recessive

Isolated congenital anonychia

ORPHA:79143Ауру
Autosomal dominant, Autosomal recessive

Isolated congenital anosmia

ORPHA:88620Ауру
Autosomal dominant, X-linked recessive

Isolated congenital breast hypoplasia/aplasia

ORPHA:180188Морф.
Autosomal recessive

Isolated congenital cholesteatoma of the middle ear

ORPHA:686556Морф.
Unknown

Isolated congenital hepatic fibrosis

ORPHA:485426Ауру

Isolated congenital hypoglossia/aglossia

ORPHA:141152Морф.

Isolated congenital hypogonadotropic hypogonadism

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

Isolated congenital laryngeal web

ORPHA:2374Мальф.

Isolated congenital megalocornea

ORPHA:91489Морф.
X-linked recessive

Isolated congenital microcephaly

ORPHA:199642Мальф.

Isolated congenital nasal pyriform aperture stenosis

ORPHA:162516Мальф.

Isolated congenital onychodysplasia

ORPHA:79144Ауру

Isolated congenital sclerocornea

ORPHA:91490Морф.
Autosomal dominant

Isolated congenital syngnathia

ORPHA:141214Мальф.

Isolated congenitally uncorrected transposition of the great arteries

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

Isolated corpus callosum agenesis

ORPHA:200Морф.
Not applicable