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

Infantile-onset autosomal recessive nonprogressive cerebellar ataxia

ORPHA:284332Kr.
Autosomal recessive

Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome

ORPHA:457205Kr.
Autosomal recessive

Infantile-onset generalized dyskinesia with orofacial involvement

ORPHA:494526Kr.
Autosomal recessive

Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome

ORPHA:714423Kr.
Autosomal dominant

Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression

ORPHA:391316Kr.
Autosomal recessive

Infantile-onset periodic fever-panniculitis-dermatosis syndrome

ORPHA:500062Kr.
Autosomal recessive

Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

ORPHA:572428Kr.
Autosomal dominant

Infantile-onset spinocerebellar ataxia

ORPHA:1186Kr.
Autosomal recessive

Infection-related hemolytic uremic syndrome

ORPHA:544482Kr.
Not applicable

Infectious anterior uveitis

ORPHA:279922Kr.

Infectious panuveitis

ORPHA:279925Kr.

Infectious posterior uveitis

ORPHA:279919Kr.

Infective dermatitis associated with HTLV-1

ORPHA:289347Kr.
Not applicable

Infective endocarditis

ORPHA:570762Kr.

Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome

ORPHA:714472Kr.
Autosomal dominant

Inflammatory breast cancer

ORPHA:694963Kr.

Inflammatory myofibroblastic tumor

ORPHA:178342Kr.

Inflammatory myopathy with abundant macrophages

ORPHA:247718Kr.
Not applicable

Inflammatory pseudotumor of the liver

ORPHA:90003Kr.
Not applicable

Inhalational anthrax

ORPHA:247257Kr.
Not applicable

Inherited Creutzfeldt-Jakob disease

ORPHA:282166Kr.
Autosomal dominant

Inherited acute myeloid leukemia

ORPHA:319465Kr.
Autosomal dominant

Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations

ORPHA:319462Kr.
Autosomal recessive

Inherited congenital spastic tetraplegia

ORPHA:210141Kr.
Autosomal recessive, Unknown