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Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер

Congenital myopathy with myasthenic-like onset

ORPHA:424107Ауру
Autosomal recessive

Congenital myopathy with reduced type 2 muscle fibers

ORPHA:544602Ауру
Autosomal recessive

Congenital myopathy, Paradas type

ORPHA:199329Ауру
Autosomal recessive

Congenital myotonia

ORPHA:206973Клин. топ

Congenital nephrotic syndrome, Finnish type

ORPHA:839Ауру
Autosomal recessive

Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency

ORPHA:619941Ауру
Autosomal recessive

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

ORPHA:369852Ауру
Autosomal recessive

Congenital non-communicating hydrocephalus

ORPHA:269510Клин. под.
Autosomal recessive

Congenital oculomotor nerve palsy

ORPHA:440221Ауру
Not applicable

Congenital or early infantile CACH syndrome

ORPHA:157713Клин. под.
Autosomal recessive

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

ORPHA:2772Мальф.
Autosomal recessive

Congenital pancreatic cyst

ORPHA:313906Морф.
Unknown

Congenital panfollicular nevus

ORPHA:139414Ауру

Congenital partial agenesis of pericardium

ORPHA:99130Морф.
Not applicable

Congenital partial pulmonary venous return anomaly

ORPHA:99124Морф.

Congenital patella dislocation

ORPHA:295036Морф.

Congenital pericardium anomaly

ORPHA:2846Сан.
Not applicable

Congenital plasminogen activator inhibitor type 1 deficiency

ORPHA:465Ауру
Autosomal recessive

Congenital portosystemic shunt

ORPHA:480531Морф.

Congenital prekallikrein deficiency

ORPHA:749Ауру
Autosomal recessive

Congenital primary aphakia

ORPHA:83461Мальф.
Autosomal recessive

Congenital primary lymphedema of Gordon

ORPHA:569821Ауру
Autosomal dominant

Congenital primary megaureter

ORPHA:617Морф.
Unknown

Congenital primary megaureter, nonrefluxing and unobstructed form

ORPHA:238654Клин. под.
Unknown