Rare Disease Library

Pulmonary arterial hypertension associated with portal hypertension

PAH · PAH associated with portal hypertension

Adenohypophysitis

Anterior pituitary hypophysitis

Adult hypophosphatasia

Adult Rathbun disease · Adult phosphoethanolaminuria

Autosomal dominant hypophosphatemic rickets

ADHR · Autosomal dominant hypophosphatemia

Autosomal recessive hypophosphatemic rickets

ARHR

Childhood-onset hypophosphatasia

Childhood-onset phosphoethanolaminuria · Childhood-onset Rathbun disease

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Furuncular myiasis due to Cordylobia anthropophaga

Furunculous myiasis due to Cordylobia anthropophaga · Furunculoid myiasis due to Cordylobia anthropophaga

Hereditary hypophosphatemic rickets with hypercalciuria

HHRH

Hypophosphatasia

HPP · Phosphoethanolaminuria

Hypophosphatemic rickets

Immunotherapy induced hypophysitis

Infantile hypophosphatasia

Infantile phosphoethanolaminuria · Infantile Rathbun disease

Infundibulo-neurohypophysitis

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

MCAHS type 3 · Multiple congenital anomalies-hypotonia-seizures syndrome type 3

Odontohypophosphatasia

Panhypophysitis

Infundibulo-panhypophysitis

Perinatal lethal hypophosphatasia

Perinatal lethal phosphoethanolaminuria · Perinatal lethal Rathbun disease

Prenatal benign hypophosphatasia

Prenatal benign phosphoethanolaminuria · Prenatal benign Rathbun disease

Primary hypophysitis

Autoimmune hypophysitis

Squamous cell carcinoma of the hypopharynx

X-linked hypophosphatemia

X-linked hypophosphatemic rickets · XLH