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

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 spherocytosis

ORPHA:822Kr.
Autosomal dominant, Autosomal recessive

Hereditary steroid-resistant nephrotic syndrome

ORPHA:656Kr.
Autosomal dominant, Autosomal recessive

Hereditary thermosensitive neuropathy

ORPHA:84093Kr.

Hereditary thrombocytopenia with early-onset myelofibrosis

ORPHA:480851Kr.
Autosomal dominant

Hereditary thrombocytopenia with normal platelets

ORPHA:268322Kr.
Autosomal dominant, Autosomal recessive, X-linked recessive

Hereditary thrombophilia due to congenital antithrombin deficiency

ORPHA:82Kr.
Autosomal dominant

Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency

ORPHA:217467Kr.
Autosomal dominant

Hereditary xanthinuria

ORPHA:3467Kr.
Autosomal recessive

Hermansky-Pudlak syndrome

ORPHA:79430Kr.
Autosomal recessive

Herpes simplex virus encephalitis

ORPHA:1930Kr.
Multigenic/multifactorial, Not applicable

Herpes simplex virus stromal keratitis

ORPHA:137599Kr.
Not applicable

Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene

ORPHA:715143Kr.
Autosomal recessive

Hidrotic ectodermal dysplasia

ORPHA:189Kr.
Autosomal dominant

High bone mass osteogenesis imperfecta

ORPHA:314029Kr.
Autosomal dominant

High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement

ORPHA:480541Kr.

High myopia-sensorineural deafness syndrome

ORPHA:363396Kr.
Autosomal recessive

High-grade neuroendocrine carcinoma of the cervix uteri

ORPHA:213777Kr.

Hinman syndrome

ORPHA:84085Kr.