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База Orphanet

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

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

Congenital myopathy with myasthenic-like onset

ORPHA:424107Заболевание
Autosomal recessive

Congenital myopathy with reduced type 2 muscle fibers

ORPHA:544602Заболевание
Autosomal recessive

Congenital myopathy, Paradas type

ORPHA:199329Заболевание
Autosomal recessive

Congenital myotonia

ORPHA:206973Клин. гр.

Congenital nephrotic syndrome, Finnish type

ORPHA:839Заболевание
Autosomal recessive

Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency

ORPHA:619941Заболевание
Autosomal recessive

Congenital neutropenia-myelofibrosis-nephromegaly syndrome

ORPHA:369852Заболевание
Autosomal recessive

Congenital non-communicating hydrocephalus

ORPHA:269510Клин. подт.
Autosomal recessive

Congenital oculomotor nerve palsy

ORPHA:440221Заболевание
Not applicable

Congenital or early infantile CACH syndrome

ORPHA:157713Клин. подт.
Autosomal recessive

Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome

ORPHA:2772Порок
Autosomal recessive

Congenital pancreatic cyst

ORPHA:313906Морф.
Unknown

Congenital panfollicular nevus

ORPHA:139414Заболевание

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:2846Кат.
Not applicable

Congenital plasminogen activator inhibitor type 1 deficiency

ORPHA:465Заболевание
Autosomal recessive

Congenital portosystemic shunt

ORPHA:480531Морф.

Congenital prekallikrein deficiency

ORPHA:749Заболевание
Autosomal recessive

Congenital primary aphakia

ORPHA:83461Порок
Autosomal recessive

Congenital primary lymphedema of Gordon

ORPHA:569821Заболевание
Autosomal dominant

Congenital primary megaureter

ORPHA:617Морф.
Unknown

Congenital primary megaureter, nonrefluxing and unobstructed form

ORPHA:238654Клин. подт.
Unknown