Disease Index

Pseudoxanthomatous diffuse cutaneous mastocytosis (PDCM) is a rare form of diffuse cutaneous mastocytosis (DCM; see this term) characterized by yellow-orange infiltrated and xanthogranuloma-like lesions with only limited blistering

Childhood arthritis typically associated with psoriasis

serine deficiency that has material basis in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine

eye disease characterized by the drooping or falling of the upper eyelid

Ptosis-strabismus-ectopic pupils syndrome is characterised by the association of ptosis, strabismus and ectopic pupils. It has been described in one family (in a mother and three of her children). Transmission is autosomal dominant.

human disease

Ptosis - upper ocular movement limitation - absence of lacrimal punctum is a recently described association of absence of the lower lid lacrimal punctum, bilateral ptosis, elevation deficiency of both eyes and mild facial dysmorphism

human disease

Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitting and for which no organic cause can be found by imaging studies. It is often associated with pelvic dysfunction.

medical condition

human disease

lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange

Pulmonary arterial hypertension (PAH, see this entry) associated with HIV infection (PAH-HIV) is a form of PAH characterized by elevated pulmonary arterial resistance leading to right heart failure observed as a complication of HIV infection

human disease

human disease

human disease

type of congenital heart defect

an embryoma and malignant neoplasm of the lung

human disease

human disease