MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Congenital glucokinase-related hyperinsulinism

ORPHA:79299Disease
Autosomal dominant

Congenital heart block

ORPHA:60041Disease
Not applicable

Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome

ORPHA:708019Malform.
Autosomal dominant

Congenital heart defect-round face-developmental delay syndrome

ORPHA:1355Malform.

Congenital hereditary endothelial dystrophy type II

ORPHA:293603Disease
Autosomal recessive

Congenital hereditary facial paralysis-variable hearing loss syndrome

ORPHA:306530Morph.
Autosomal recessive

Congenital herpes simplex virus infection

ORPHA:293Disease
Not applicable

Congenital high-molecular-weight kininogen deficiency

ORPHA:483Disease
Autosomal recessive

Congenital hydrocephalus

ORPHA:2185Malform.
Not applicable

Congenital hyperinsulinism due to HNF4A deficiency

ORPHA:263455Disease
Autosomal dominant

Congenital hypogonadotropic hypogonadism

ORPHA:174590Cat.
Autosomal dominant, Autosomal recessive, X-linked recessive

Congenital hypothyroidism

ORPHA:442Cat.
Autosomal recessive

Congenital hypothyroidism due to developmental anomaly

ORPHA:95711Cat.

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 intrahepatic arterioportal fistula

ORPHA:694228Malform.
Not applicable