MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

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

H syndrome

ORPHA:168569Malf.
Autosomal recessive

HANAC syndrome

ORPHA:73229Kr.
Autosomal dominant

HEC syndrome

ORPHA:2119Malf.
Unknown

HELLP syndrome

ORPHA:244242Kr.
Multigenic/multifactorial

HHV-8-associated multicentric Castleman disease

ORPHA:570438Kl. subt.

HIDEA syndrome

ORPHA:436141Malf.
Autosomal recessive

HIV-associated cancer

ORPHA:443291spez. Sit.
Not applicable

HJV or HAMP-related hemochromatosis

ORPHA:79230Kr.
Autosomal recessive

HNF1B-related autosomal dominant tubulointerstitial kidney disease

ORPHA:93111Kl. subt.
Autosomal dominant

HNRNPA1-related adult-onset distal myopathy

ORPHA:399086Kr.

HNRNPDL-related limb-girdle muscular dystrophy D3

ORPHA:55596Kr.
Autosomal dominant

HSD10 disease

ORPHA:391417Kr.
X-linked dominant

HSD10 disease, atypical type

ORPHA:85295Kl. subt.
X-linked dominant

HSD10 disease, infantile type

ORPHA:391428Kl. subt.
X-linked dominant

HSD10 disease, neonatal type

ORPHA:391457Kl. subt.
X-linked dominant

HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome

ORPHA:476093Kr.
Autosomal dominant

HTRA1-related autosomal dominant cerebral small vessel disease

ORPHA:482077Kr.
Autosomal dominant

Haddad syndrome

ORPHA:99803Malf.
Autosomal dominant, Multigenic/multifactorial

Hailey-Hailey disease

ORPHA:2841Kr.
Autosomal dominant

Haim-Munk syndrome

ORPHA:2342Kr.
Autosomal recessive

Hairy cell leukemia variant

ORPHA:300878Kr.
Unknown

Hajdu-Cheney syndrome

ORPHA:955Malf.
Autosomal dominant

Hall-Riggs syndrome

ORPHA:2107Malf.
Autosomal recessive

Hallermann-Streiff syndrome

ORPHA:2108Malf.
Not applicable, Unknown