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

Discoid lupus erythematosus

ORPHA:90281Disease

Dissecting cellulitis of the scalp

ORPHA:345Disease
Not applicable

Disseminated peritoneal leiomyomatosis

ORPHA:71274Disease
Unknown

Disseminated superficial actinic porokeratosis

ORPHA:79152Disease
Autosomal dominant

Distal anoctaminopathy

ORPHA:399096Disease
Autosomal recessive

Distal arthrogryposis type 5D

ORPHA:329457Disease
Autosomal recessive

Distal hereditary motor neuropathy type 1

ORPHA:139518Disease
Autosomal dominant

Distal hereditary motor neuropathy type 2

ORPHA:139525Disease
Autosomal dominant

Distal hereditary motor neuropathy type 5

ORPHA:139536Disease
Autosomal dominant

Distal hereditary motor neuropathy type 7

ORPHA:139589Disease
Autosomal dominant

Distal hereditary motor neuropathy, Jerash type

ORPHA:139552Disease
Autosomal recessive

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

ORPHA:700508Disease
Autosomal recessive

Distal myopathy with anterior tibial onset

ORPHA:178400Disease
Autosomal recessive

Distal myopathy, Tateyama type

ORPHA:488650Disease
Autosomal dominant

Distal myopathy, Welander type

ORPHA:603Disease
Autosomal dominant

Distal myotilinopathy

ORPHA:98911Disease
Autosomal dominant

Distal renal tubular acidosis

ORPHA:18Disease
Autosomal dominant, Autosomal recessive, Not applicable

Distal spinal muscular atrophy type 3

ORPHA:139547Disease
Autosomal recessive

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

ORPHA:244305Disease
Autosomal dominant

Dopa-responsive dystonia due to sepiapterin reductase deficiency

ORPHA:70594Disease
Autosomal recessive

Dopamine beta-hydroxylase deficiency

ORPHA:230Disease
Autosomal recessive

Dowling-Degos disease

ORPHA:79145Disease
Autosomal dominant

Dracunculiasis

ORPHA:231Disease

Dravet syndrome

ORPHA:33069Disease
Autosomal dominant