Idiopathic achalasia is a neurodegenerative disorder that is caused by nerve cells of the myenteric plexus.
The rare syndrome of hypotrichosis with juvenile macular dystrophy is characterized by short, sparse hair from birth and progressive macular dystrophy, as well as blindness.
Hypophosphatasia (HPP) is a rare hereditary disease in which defective bone mineralization leads to impaired tooth and bone development.
Hypertelorism hypospadias-syndrome is a disease with multiple congenital midline malformations, including hypertelorism, laryngo-tracheo-oesophageal defects, and hypospadias.
Hyperphenylalaninemia is a congenital amino acid metabolic defect.
Hypernychthemeral syndrome, or non-24-hour sleep-wake syndrome, is a very rare neurological sleep disorder.
Hyperlipoproteinemia type 1 refers to a defect of the posthepatic lipoprotein lipase and a strongly delayed degradation of the chylomicrons.
Hypereosinophilic syndrome refers to a group of diseases (multisystem disorders) characterized by marked peripheral blood eosinophilia greater than 1.5 / nl for more than 6 months (or bone marrow eosinophilia without detectable cause), and significant organ dysfunction.
N-acetylglutamate synthetase deficiency (NAGS deficiency) is a very rare autosomal recessive inherited disorder of the urea cycle and causes hyperammonaemia.
Homocystinuria is a congenital, autosomal recessive inherited disorder of amino acid metabolism.
Hodgkin's lymphoma is one of the malignant lymphoid neoplasias.
Neuroblastoma is a childhood cancer, which arises from degenerated cells of the sympathetic nervous system.
Job syndrome is an inflammatory skin disease (eczematoid dermatitis with chronic recurrent pyoderma) along with inflammation of the upper respiratory tract and lungs.
A hereditary zinc deficiency syndrome is a congenital metabolic disorder with disruption of zinc intake.
Hereditary angioedema (HAE) is a hereditary, special form (autosomal dominant or new mutation) of Quincke's edema.
Hemophilia B is a hereditary disease with a disturbed blood coagulation caused by the lack of the coagulation factor IX.
Hepatocellular carcinoma (HCC) is a highly malignant tumor that develops from the hepatocytes and is associated with rapid progression. HCC is one of the most common malignant tumors in the world.
Hemifacial microsomia is a congenital disease of the craniofacial microsomes.
Hay-Wells syndrome is a rare form of ectodermal dysplasia. The main symptoms are cleft lip and palate, ancyloblepharon and ectodermal defects.
Griscelli syndrome is an autosomal recessive inherited form of partial albinism associated with an immune deficiency.