MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Congenital glucokinase-related hyperinsulinism

ORPHA:79299Заболевание
Autosomal dominant

Congenital heart block

ORPHA:60041Заболевание
Not applicable

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

ORPHA:708019Мальформация
Autosomal dominant

Congenital heart defect-round face-developmental delay syndrome

ORPHA:1355Мальформация

Congenital hereditary endothelial dystrophy type II

ORPHA:293603Заболевание
Autosomal recessive

Congenital hereditary facial paralysis-variable hearing loss syndrome

ORPHA:306530Морф. аномалия
Autosomal recessive

Congenital herpes simplex virus infection

ORPHA:293Заболевание
Not applicable

Congenital high-molecular-weight kininogen deficiency

ORPHA:483Заболевание
Autosomal recessive

Congenital hydrocephalus

ORPHA:2185Мальформация
Not applicable

Congenital hyperinsulinism due to HNF4A deficiency

ORPHA:263455Заболевание
Autosomal dominant

Congenital hypogonadotropic hypogonadism

ORPHA:174590Категория
Autosomal dominant, Autosomal recessive, X-linked recessive

Congenital hypothyroidism

ORPHA:442Категория
Autosomal recessive

Congenital hypothyroidism due to developmental anomaly

ORPHA:95711Категория

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 intrahepatic arterioportal fistula

ORPHA:694228Мальформация
Not applicable