MEDLIB
Orphanet базасы

Сирек аурулар

7,547 ауру гендер, фенотиптер және эпидемиологиямен

7,547Аурулар
4 552Гендер
8 700Фенотиптер
Табылды 3,968 заболеваний (Ауру) Қалпына келтіру

Congenital fiber-type disproportion myopathy

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

Congenital fibrinogen deficiency

ORPHA:335Ауру
Autosomal dominant, Autosomal recessive

Congenital fibrosis of extraocular muscles

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

Congenital generalized hypercontractile muscle stiffness syndrome

ORPHA:476406Ауру
Autosomal dominant, Not applicable

Congenital generalized lipodystrophy

ORPHA:528Ауру
Autosomal recessive

Congenital glaucoma

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

Congenital glucokinase-related hyperinsulinism

ORPHA:79299Ауру
Autosomal dominant

Congenital heart block

ORPHA:60041Ауру
Not applicable

Congenital hereditary endothelial dystrophy type II

ORPHA:293603Ауру
Autosomal recessive

Congenital herpes simplex virus infection

ORPHA:293Ауру
Not applicable

Congenital high-molecular-weight kininogen deficiency

ORPHA:483Ауру
Autosomal recessive

Congenital hyperinsulinism due to HNF4A deficiency

ORPHA:263455Ауру
Autosomal dominant

Congenital hypothyroidism due to maternal intake of antithyroid drugs

ORPHA:226313Ауру

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

ORPHA:95715Ауру
Not applicable

Congenital ichthyosiform erythroderma

ORPHA:79394Ауру
Autosomal recessive

Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

ORPHA:352333Ауру
Autosomal recessive

Congenital ichthyosis-microcephalus-tetraplegia syndrome

ORPHA:2271Ауру
Unknown

Congenital infiltrating lipomatosis of the face

ORPHA:583097Ауру

Congenital insensitivity to pain syndrome, Marsili type

ORPHA:653728Ауру
Autosomal dominant

Congenital insensitivity to pain with severe intellectual disability

ORPHA:453510Ауру
Autosomal recessive

Congenital insensitivity to pain-anosmia-neuropathic arthropathy

ORPHA:88642Ауру
Autosomal dominant, Autosomal recessive

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

ORPHA:217399Ауру
Unknown

Congenital intrinsic factor deficiency

ORPHA:332Ауру
Autosomal recessive, Not applicable

Congenital isolated ACTH deficiency

ORPHA:199296Ауру
Autosomal recessive