Disease Directory

Hyperparathyroidism 1 is an inherited condition primarily affecting the parathyroid glands, which play a key role in regulating calcium levels in the...

Hyperparathyroidism 2 with jaw tumors is an inherited condition that primarily affects the parathyroid glands and jaw, with additional involvement of...

Hyperparathyroidism 4 is a familial form of isolated hyperparathyroidism caused by mutations in the GCM2 gene that affect the parathyroid glands. This...

Hyperparathyroidism, primary, caused by water clear cell hyperplasia is an endocrine condition affecting the parathyroid glands and their regulation o...

Hyperparathyroidism, transient neonatal is a condition observed in newborns that involves a temporary disruption in parathyroid hormone regulation. Th...

Hyperphenylalaninemia due to tetrahydrobiopterin deficiency is a rare inherited metabolic disorder in which the body cannot properly break down the am...

Hyperphosphatasia with intellectual disability syndrome 1 is a genetic condition that affects multiple systems, particularly the central nervous syste...

Hyperphosphatasia with intellectual disability syndrome 2 is an inherited multisystem condition primarily affecting neurodevelopment and skeletal form...

Hyperphosphatasia with intellectual disability syndrome 3 is a genetic condition caused by mutations in the PGAP2 gene that disrupt glycosylphosphatid...

Hyperphosphatasia with intellectual disability syndrome 4 is a genetic condition that primarily affects neurodevelopment and physical features. It is...

Hyperphosphatasia with intellectual disability syndrome 5 is a multisystem condition characterized by distinctive facial features, hernias, seizures,...

Hyperphosphatasia with intellectual disability syndrome 6 is a multi-system condition characterized by elevated alkaline phosphatase levels combined w...

Hyperphosphatasia-intellectual disability syndrome, also known as HPMR or Mabry syndrome, is a condition that primarily affects neurodevelopment and c...