MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

H syndrome

ORPHA:168569Malform.
Autosomal recessive

HANAC syndrome

ORPHA:73229Disease
Autosomal dominant

HEC syndrome

ORPHA:2119Malform.
Unknown

HELLP syndrome

ORPHA:244242Disease
Multigenic/multifactorial

HHV-8-associated multicentric Castleman disease

ORPHA:570438Clin. sub.

HIDEA syndrome

ORPHA:436141Malform.
Autosomal recessive

HIV-associated cancer

ORPHA:443291Situation
Not applicable

HJV or HAMP-related hemochromatosis

ORPHA:79230Disease
Autosomal recessive

HNF1B-related autosomal dominant tubulointerstitial kidney disease

ORPHA:93111Clin. sub.
Autosomal dominant

HNRNPA1-related adult-onset distal myopathy

ORPHA:399086Disease

HNRNPDL-related limb-girdle muscular dystrophy D3

ORPHA:55596Disease
Autosomal dominant

HSD10 disease

ORPHA:391417Disease
X-linked dominant

HSD10 disease, atypical type

ORPHA:85295Clin. sub.
X-linked dominant

HSD10 disease, infantile type

ORPHA:391428Clin. sub.
X-linked dominant

HSD10 disease, neonatal type

ORPHA:391457Clin. sub.
X-linked dominant

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

ORPHA:476093Disease
Autosomal dominant

HTRA1-related autosomal dominant cerebral small vessel disease

ORPHA:482077Disease
Autosomal dominant

Haddad syndrome

ORPHA:99803Malform.
Autosomal dominant, Multigenic/multifactorial

Hailey-Hailey disease

ORPHA:2841Disease
Autosomal dominant

Haim-Munk syndrome

ORPHA:2342Disease
Autosomal recessive

Hairy cell leukemia variant

ORPHA:300878Disease
Unknown

Hajdu-Cheney syndrome

ORPHA:955Malform.
Autosomal dominant

Hall-Riggs syndrome

ORPHA:2107Malform.
Autosomal recessive

Hallermann-Streiff syndrome

ORPHA:2108Malform.
Not applicable, Unknown