MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов
Найдено 3,968 заболеваний (Заболевание)Сбросить

Congenital fiber-type disproportion myopathy

ORPHA:2020Заболевание
Autosomal dominant, Autosomal recessive, X-linked recessive

Congenital fibrinogen deficiency

ORPHA:335Заболевание
Autosomal dominant, Autosomal recessive

Congenital fibrosis of extraocular muscles

ORPHA:45358Заболевание
Autosomal dominant, Autosomal recessive, Not applicable

Congenital generalized hypercontractile muscle stiffness syndrome

ORPHA:476406Заболевание
Autosomal dominant, Not applicable

Congenital generalized lipodystrophy

ORPHA:528Заболевание
Autosomal recessive

Congenital glaucoma

ORPHA:98976Заболевание
Autosomal dominant, Autosomal recessive, Not applicable

Congenital glucokinase-related hyperinsulinism

ORPHA:79299Заболевание
Autosomal dominant

Congenital heart block

ORPHA:60041Заболевание
Not applicable

Congenital hereditary endothelial dystrophy type II

ORPHA:293603Заболевание
Autosomal recessive

Congenital herpes simplex virus infection

ORPHA:293Заболевание
Not applicable

Congenital high-molecular-weight kininogen deficiency

ORPHA:483Заболевание
Autosomal recessive

Congenital hyperinsulinism due to HNF4A deficiency

ORPHA:263455Заболевание
Autosomal dominant

Congenital hypothyroidism due to maternal intake of antithyroid drugs

ORPHA:226313Заболевание

Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies

ORPHA:95715Заболевание
Not applicable

Congenital ichthyosiform erythroderma

ORPHA:79394Заболевание
Autosomal recessive

Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

ORPHA:352333Заболевание
Autosomal recessive

Congenital ichthyosis-microcephalus-tetraplegia syndrome

ORPHA:2271Заболевание
Unknown

Congenital infiltrating lipomatosis of the face

ORPHA:583097Заболевание

Congenital insensitivity to pain syndrome, Marsili type

ORPHA:653728Заболевание
Autosomal dominant

Congenital insensitivity to pain with severe intellectual disability

ORPHA:453510Заболевание
Autosomal recessive

Congenital insensitivity to pain-anosmia-neuropathic arthropathy

ORPHA:88642Заболевание
Autosomal dominant, Autosomal recessive

Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation

ORPHA:217399Заболевание
Unknown

Congenital intrinsic factor deficiency

ORPHA:332Заболевание
Autosomal recessive, Not applicable

Congenital isolated ACTH deficiency

ORPHA:199296Заболевание
Autosomal recessive