MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Hepatoblastoma

ORPHA:449Disease
Not applicable

Hepatocellular adenoma

ORPHA:54272Disease

Hepatocellular carcinoma

ORPHA:88673Clin. grp.
Not applicable

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

ORPHA:137681Disease
Autosomal recessive

Hepatoerythropoietic porphyria

ORPHA:95159Disease
Autosomal recessive

Hepatoportal sclerosis

ORPHA:64743Hist. sub.

Hepatosplenic T-cell lymphoma

ORPHA:86882Disease
Not applicable

Hereditary ATTR amyloidosis

ORPHA:271861Disease
Autosomal dominant

Hereditary North American Indian childhood cirrhosis

ORPHA:168583Clin. sub.
Autosomal recessive

Hereditary acrokeratotic poikiloderma

ORPHA:2907Disease

Hereditary amyloidosis with primary renal involvement

ORPHA:85450Disease
Autosomal dominant

Hereditary angioedema

ORPHA:91378Clin. grp.
Autosomal dominant

Hereditary angioedema type 1

ORPHA:100050Etio. sub.
Autosomal dominant

Hereditary angioedema type 2

ORPHA:100051Etio. sub.
Autosomal dominant

Hereditary angioedema with C1Inh deficiency

ORPHA:528623Disease
Not applicable

Hereditary angioedema with normal C1Inh

ORPHA:528647Disease
Not applicable

Hereditary angioedema with normal C1Inh not related to F12 or PLG variant

ORPHA:599418Clin. sub.
Autosomal dominant

Hereditary arginine vasopressin deficiency

ORPHA:30925Clin. sub.
Autosomal dominant, Autosomal recessive, X-linked dominant

Hereditary arterial and articular multiple calcification syndrome

ORPHA:289601Disease
Autosomal recessive

Hereditary ataxia

ORPHA:183518Cat.

Hereditary atrial fibrillation

ORPHA:334Disease
Autosomal dominant

Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease

ORPHA:436242Disease
Autosomal dominant

Hereditary benign intraepithelial dyskeratosis

ORPHA:352657Disease
Autosomal dominant

Hereditary breast and/or ovarian cancer syndrome

ORPHA:145Disease
Autosomal dominant