MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4 552Gene
8 700Phänotypen
3,968 Erkrankungen gefunden (Kr.) Zurücksetzen

Hip dysplasia, Beukes type

ORPHA:2114Kr.
Autosomal dominant

Hirschsprung disease

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

His bundle tachycardia

ORPHA:3283Kr.
Unknown

Histidinemia

ORPHA:2157Kr.
Autosomal recessive

Histidinuria-renal tubular defect syndrome

ORPHA:2158Kr.

Histiocytic sarcoma

ORPHA:86896Kr.

Histiocytoid cardiomyopathy

ORPHA:137675Kr.
Autosomal recessive, Unknown, X-linked dominant

Hobnail hemangioma

ORPHA:675362Kr.

Holmes-Adie syndrome

ORPHA:454718Kr.
Not applicable

Holocarboxylase synthetase deficiency

ORPHA:79242Kr.
Autosomal recessive

Homocystinuria due to cystathionine beta-synthase deficiency

ORPHA:394Kr.
Autosomal recessive

Homocystinuria due to methylene tetrahydrofolate reductase deficiency

ORPHA:395Kr.
Autosomal recessive

Homocystinuria without methylmalonic aciduria

ORPHA:622Kr.
Autosomal recessive

Homozygous familial hypercholesterolemia

ORPHA:391665Kr.
Autosomal dominant, Autosomal recessive

Homozygous hemoglobin O Arab disease

ORPHA:700111Kr.
Autosomal recessive

Horizontal gaze palsy with progressive scoliosis

ORPHA:2744Kr.
Autosomal recessive

Hot water reflex epilepsy

ORPHA:166412Kr.
Autosomal dominant

Hoyeraal-Hreidarsson syndrome

ORPHA:3322Kr.
Autosomal dominant, Autosomal recessive, X-linked recessive

Hughes-Stovin syndrome

ORPHA:228116Kr.
Not applicable

Human infection by orthopoxvirus

ORPHA:438279Kr.
Not applicable

Huntington disease

ORPHA:399Kr.
Autosomal dominant

Huntington disease-like 1

ORPHA:157941Kr.
Autosomal dominant

Huntington disease-like 2

ORPHA:98934Kr.
Autosomal dominant

Huntington disease-like 3

ORPHA:157946Kr.
Autosomal recessive