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

Hip dysplasia, Beukes type

ORPHA:2114Disease
Autosomal dominant

Hirschsprung disease

ORPHA:388Disease
Autosomal dominant, Autosomal recessive, Multigenic/multifactorial, Not applicable

His bundle tachycardia

ORPHA:3283Disease
Unknown

Histidinemia

ORPHA:2157Disease
Autosomal recessive

Histidinuria-renal tubular defect syndrome

ORPHA:2158Disease

Histiocytic sarcoma

ORPHA:86896Disease

Histiocytoid cardiomyopathy

ORPHA:137675Disease
Autosomal recessive, Unknown, X-linked dominant

Hobnail hemangioma

ORPHA:675362Disease

Holmes-Adie syndrome

ORPHA:454718Disease
Not applicable

Holocarboxylase synthetase deficiency

ORPHA:79242Disease
Autosomal recessive

Homocystinuria due to cystathionine beta-synthase deficiency

ORPHA:394Disease
Autosomal recessive

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

ORPHA:395Disease
Autosomal recessive

Homocystinuria without methylmalonic aciduria

ORPHA:622Disease
Autosomal recessive

Homozygous familial hypercholesterolemia

ORPHA:391665Disease
Autosomal dominant, Autosomal recessive

Homozygous hemoglobin O Arab disease

ORPHA:700111Disease
Autosomal recessive

Horizontal gaze palsy with progressive scoliosis

ORPHA:2744Disease
Autosomal recessive

Hot water reflex epilepsy

ORPHA:166412Disease
Autosomal dominant

Hoyeraal-Hreidarsson syndrome

ORPHA:3322Disease
Autosomal dominant, Autosomal recessive, X-linked recessive

Hughes-Stovin syndrome

ORPHA:228116Disease
Not applicable

Human infection by orthopoxvirus

ORPHA:438279Disease
Not applicable

Huntington disease

ORPHA:399Disease
Autosomal dominant

Huntington disease-like 1

ORPHA:157941Disease
Autosomal dominant

Huntington disease-like 2

ORPHA:98934Disease
Autosomal dominant

Huntington disease-like 3

ORPHA:157946Disease
Autosomal recessive