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

Discoid lupus erythematosus

ORPHA:90281Kr.

Dissecting cellulitis of the scalp

ORPHA:345Kr.
Not applicable

Disseminated peritoneal leiomyomatosis

ORPHA:71274Kr.
Unknown

Disseminated superficial actinic porokeratosis

ORPHA:79152Kr.
Autosomal dominant

Distal anoctaminopathy

ORPHA:399096Kr.
Autosomal recessive

Distal arthrogryposis type 5D

ORPHA:329457Kr.
Autosomal recessive

Distal hereditary motor neuropathy type 1

ORPHA:139518Kr.
Autosomal dominant

Distal hereditary motor neuropathy type 2

ORPHA:139525Kr.
Autosomal dominant

Distal hereditary motor neuropathy type 5

ORPHA:139536Kr.
Autosomal dominant

Distal hereditary motor neuropathy type 7

ORPHA:139589Kr.
Autosomal dominant

Distal hereditary motor neuropathy, Jerash type

ORPHA:139552Kr.
Autosomal recessive

Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy

ORPHA:700508Kr.
Autosomal recessive

Distal myopathy with anterior tibial onset

ORPHA:178400Kr.
Autosomal recessive

Distal myopathy, Tateyama type

ORPHA:488650Kr.
Autosomal dominant

Distal myopathy, Welander type

ORPHA:603Kr.
Autosomal dominant

Distal myotilinopathy

ORPHA:98911Kr.
Autosomal dominant

Distal renal tubular acidosis

ORPHA:18Kr.
Autosomal dominant, Autosomal recessive, Not applicable

Distal spinal muscular atrophy type 3

ORPHA:139547Kr.
Autosomal recessive

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

ORPHA:244305Kr.
Autosomal dominant

Dopa-responsive dystonia due to sepiapterin reductase deficiency

ORPHA:70594Kr.
Autosomal recessive

Dopamine beta-hydroxylase deficiency

ORPHA:230Kr.
Autosomal recessive

Dowling-Degos disease

ORPHA:79145Kr.
Autosomal dominant

Dracunculiasis

ORPHA:231Kr.

Dravet syndrome

ORPHA:33069Kr.
Autosomal dominant