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

Hereditary sensory and autonomic neuropathy type 7

ORPHA:391397Disease
Autosomal dominant

Hereditary sensory and autonomic neuropathy type 8

ORPHA:478664Disease
Autosomal recessive

Hereditary sensory and autonomic neuropathy with deafness and global delay

ORPHA:139573Disease
Autosomal recessive

Hereditary sensory neuropathy-deafness-dementia syndrome

ORPHA:456318Disease
Autosomal dominant

Hereditary sick sinus syndrome

ORPHA:166282Disease
Autosomal dominant, Autosomal recessive

Hereditary sodium channelopathy-related small fibers neuropathy

ORPHA:306577Disease
Autosomal dominant

Hereditary spherocytosis

ORPHA:822Disease
Autosomal dominant, Autosomal recessive

Hereditary steroid-resistant nephrotic syndrome

ORPHA:656Disease
Autosomal dominant, Autosomal recessive

Hereditary thermosensitive neuropathy

ORPHA:84093Disease

Hereditary thrombocytopenia with early-onset myelofibrosis

ORPHA:480851Disease
Autosomal dominant

Hereditary thrombocytopenia with normal platelets

ORPHA:268322Disease
Autosomal dominant, Autosomal recessive, X-linked recessive

Hereditary thrombophilia due to congenital antithrombin deficiency

ORPHA:82Disease
Autosomal dominant

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

ORPHA:217467Disease
Autosomal dominant

Hereditary xanthinuria

ORPHA:3467Disease
Autosomal recessive

Hermansky-Pudlak syndrome

ORPHA:79430Disease
Autosomal recessive

Herpes simplex virus encephalitis

ORPHA:1930Disease
Multigenic/multifactorial, Not applicable

Herpes simplex virus stromal keratitis

ORPHA:137599Disease
Not applicable

Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene

ORPHA:715143Disease
Autosomal recessive

Hidrotic ectodermal dysplasia

ORPHA:189Disease
Autosomal dominant

High bone mass osteogenesis imperfecta

ORPHA:314029Disease
Autosomal dominant

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

ORPHA:480541Disease

High myopia-sensorineural deafness syndrome

ORPHA:363396Disease
Autosomal recessive

High-grade neuroendocrine carcinoma of the cervix uteri

ORPHA:213777Disease

Hinman syndrome

ORPHA:84085Disease