MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Helsmoortel-Van der Aa syndrome

ORPHA:404448Malform.
Unknown

Hemangioblastoma

ORPHA:252054Disease

Heme oxygenase-1 deficiency

ORPHA:562509Disease
Autosomal recessive

Hemicrania continua

ORPHA:443070Disease
Not applicable

Hemidystonia-hemiatrophy syndrome

ORPHA:306741Disease
Not applicable

Hemifacial hyperplasia

ORPHA:141145Malform.
Not applicable

Hemifacial myohyperplasia

ORPHA:141148Malform.

Hemifacial spasm

ORPHA:221083Disease

Hemihyperplasia-multiple lipomatosis syndrome

ORPHA:276280Malform.
Not applicable

Hemimegalencephaly

ORPHA:99802Malform.
Not applicable

Hemiparkinsonism-hemiatrophy syndrome

ORPHA:306669Disease

Hemoglobin Bart's fetalis syndrome

ORPHA:163596Disease
Autosomal recessive

Hemoglobin C disease

ORPHA:2132Disease
Autosomal recessive

Hemoglobin C-beta-thalassemia syndrome

ORPHA:231242Disease
Autosomal recessive

Hemoglobin D disease

ORPHA:90039Disease
Autosomal recessive

Hemoglobin E disease

ORPHA:2133Disease
Autosomal recessive

Hemoglobin E-beta-thalassemia intermedia

ORPHA:715125Clin. sub.
Autosomal recessive

Hemoglobin E-beta-thalassemia major

ORPHA:715128Clin. sub.
Autosomal recessive

Hemoglobin E-beta-thalassemia syndrome

ORPHA:231249Disease
Autosomal recessive

Hemoglobin H disease

ORPHA:93616Disease
Autosomal recessive

Hemoglobin Lepore-beta-thalassemia intermedia

ORPHA:715135Clin. sub.
Autosomal recessive

Hemoglobin Lepore-beta-thalassemia major

ORPHA:715140Clin. sub.
Autosomal recessive

Hemoglobin Lepore-beta-thalassemia syndrome

ORPHA:330032Disease
Autosomal recessive

Hemoglobin M disease

ORPHA:330041Disease
Autosomal dominant