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

Hepatitis delta

ORPHA:402823Disease
Not applicable

Hepatoblastoma

ORPHA:449Disease
Not applicable

Hepatocellular adenoma

ORPHA:54272Disease

Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1

ORPHA:137681Disease
Autosomal recessive

Hepatoerythropoietic porphyria

ORPHA:95159Disease
Autosomal recessive

Hepatosplenic T-cell lymphoma

ORPHA:86882Disease
Not applicable

Hereditary ATTR amyloidosis

ORPHA:271861Disease
Autosomal dominant

Hereditary acrokeratotic poikiloderma

ORPHA:2907Disease

Hereditary amyloidosis with primary renal involvement

ORPHA:85450Disease
Autosomal dominant

Hereditary angioedema with C1Inh deficiency

ORPHA:528623Disease
Not applicable

Hereditary angioedema with normal C1Inh

ORPHA:528647Disease
Not applicable

Hereditary arterial and articular multiple calcification syndrome

ORPHA:289601Disease
Autosomal recessive

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

Hereditary breast cancer

ORPHA:227535Disease
Autosomal dominant, Multigenic/multifactorial

Hereditary bullous dystrophy, macular type

ORPHA:1867Disease
X-linked recessive

Hereditary butyrylcholinesterase deficiency

ORPHA:132Disease
Autosomal recessive

Hereditary cerebral amyloid angiopathy

ORPHA:85458Disease
Autosomal dominant

Hereditary clear cell renal cell carcinoma

ORPHA:422526Disease
Unknown

Hereditary combined deficiency of vitamin K-dependent clotting factors

ORPHA:98434Disease
Autosomal recessive

Hereditary continuous muscle fiber activity

ORPHA:972Disease
Autosomal dominant

Hereditary coproporphyria

ORPHA:79273Disease
Autosomal dominant