MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
3,968 diseases matched (Disease) Reset

Congenital fiber-type disproportion myopathy

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

Congenital fibrinogen deficiency

ORPHA:335Disease
Autosomal dominant, Autosomal recessive

Congenital fibrosis of extraocular muscles

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

Congenital generalized hypercontractile muscle stiffness syndrome

ORPHA:476406Disease
Autosomal dominant, Not applicable

Congenital generalized lipodystrophy

ORPHA:528Disease
Autosomal recessive

Congenital glaucoma

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

Congenital glucokinase-related hyperinsulinism

ORPHA:79299Disease
Autosomal dominant

Congenital heart block

ORPHA:60041Disease
Not applicable

Congenital hereditary endothelial dystrophy type II

ORPHA:293603Disease
Autosomal recessive

Congenital herpes simplex virus infection

ORPHA:293Disease
Not applicable

Congenital high-molecular-weight kininogen deficiency

ORPHA:483Disease
Autosomal recessive

Congenital hyperinsulinism due to HNF4A deficiency

ORPHA:263455Disease
Autosomal dominant

Congenital hypothyroidism due to maternal intake of antithyroid drugs

ORPHA:226313Disease

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

ORPHA:95715Disease
Not applicable

Congenital ichthyosiform erythroderma

ORPHA:79394Disease
Autosomal recessive

Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome

ORPHA:352333Disease
Autosomal recessive

Congenital ichthyosis-microcephalus-tetraplegia syndrome

ORPHA:2271Disease
Unknown

Congenital infiltrating lipomatosis of the face

ORPHA:583097Disease

Congenital insensitivity to pain syndrome, Marsili type

ORPHA:653728Disease
Autosomal dominant

Congenital insensitivity to pain with severe intellectual disability

ORPHA:453510Disease
Autosomal recessive

Congenital insensitivity to pain-anosmia-neuropathic arthropathy

ORPHA:88642Disease
Autosomal dominant, Autosomal recessive

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

ORPHA:217399Disease
Unknown

Congenital intrinsic factor deficiency

ORPHA:332Disease
Autosomal recessive, Not applicable

Congenital isolated ACTH deficiency

ORPHA:199296Disease
Autosomal recessive