MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Hereditary pheochromocytoma-paraganglioma

ORPHA:29072Kr.
Autosomal dominant

Hereditary progressive cardiac conduction defect

ORPHA:871Kr.
Autosomal dominant

Hereditary progressive mucinous histiocytosis

ORPHA:158025Kr.
Autosomal dominant

Hereditary pulmonary alveolar proteinosis

ORPHA:264675Kr.
Autosomal recessive

Hereditary renal hypouricemia

ORPHA:94088Malf.
Autosomal recessive

Hereditary retinoblastoma

ORPHA:357027Kl. subt.
Autosomal dominant

Hereditary sclerosing poikiloderma, Weary type

ORPHA:221039Kr.

Hereditary sensorimotor neuropathy with hyperelastic skin

ORPHA:280598Kr.
Autosomal dominant

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

ORPHA:320385Kr.
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 1

ORPHA:36386Kr.
Autosomal dominant

Hereditary sensory and autonomic neuropathy type 1B

ORPHA:139564Kr.
Autosomal dominant

Hereditary sensory and autonomic neuropathy type 2

ORPHA:970Kr.
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 4

ORPHA:642Kr.
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 5

ORPHA:64752Kr.
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 6

ORPHA:314381Kr.
Autosomal recessive

Hereditary sensory and autonomic neuropathy type 7

ORPHA:391397Kr.
Autosomal dominant

Hereditary sensory and autonomic neuropathy type 8

ORPHA:478664Kr.
Autosomal recessive

Hereditary sensory and autonomic neuropathy with deafness and global delay

ORPHA:139573Kr.
Autosomal recessive

Hereditary sensory neuropathy-deafness-dementia syndrome

ORPHA:456318Kr.
Autosomal dominant

Hereditary sick sinus syndrome

ORPHA:166282Kr.
Autosomal dominant, Autosomal recessive

Hereditary sodium channelopathy-related small fibers neuropathy

ORPHA:306577Kr.
Autosomal dominant

Hereditary spastic paraplegia

ORPHA:685Kl. gruppe
Autosomal dominant, Autosomal recessive, X-linked recessive

Hereditary spherocytosis

ORPHA:822Kr.
Autosomal dominant, Autosomal recessive

Hereditary steroid-resistant nephrotic syndrome

ORPHA:656Kr.
Autosomal dominant, Autosomal recessive