Directory
Proteus syndrome
Proteus syndrome is a rare medical disorder characterized by abnormal growth of tissues and organs, leading to...
Pfeiffer syndrome
Pfeiffer syndrome is a rare genetic disorder that belongs to a group of autosomal dominant disorders caused by m...
Syndrome of the ELEMENTS
ELEMENTS syndrome (or natural disaster syndrome) is a rare but serious disorder characterized by multiple and...
Pallister-Killian mosaic syndrome
Pallister-Killian mosaic syndrome (PKMS) is a rare genetic syndrome caused by the presence of mosaic cell...
PTEN hamartoma tumor syndrome
PTEN hamartoma tumor syndrome (PTEN-HTS) is an inherited disorder that belongs to a group of syndromes associated with pre-existing malignancies.
Persistent Mullerian Duct Syndrome
Persistent Müllerian duct syndrome (PMDS) is a developmental anomaly associated with abnormal persistence of the Müllerian...
Pigment dispersion syndrome
Pigment dispersion syndrome is a hereditary eye disorder characterized by abnormal dispersion of pigment...
Popliteal pterygoid syndrome
Popliteal pterygoid syndrome is a rare disorder involving abnormal development of the popliteal region, particularly the...
Polydactyly and myopia syndrome
Polydactyly is an anomaly characterized by the presence of an extra finger or toe. This congenital deformity is a...
Polycystic ovary syndrome
Polycystic ovary syndrome (PCOS) is a complex endocrine disorder that affects many aspects of health...
Postural Orthostatic Tachycardia Syndrome (POTS)
Postural orthostatic tachycardia syndrome (POTS) is a disorder of the autonomic nervous system characterized by signifi...
Pseudotumor cerebri syndrome
Pseudotumor cerebri syndrome, or idiopathic intracranial hypertension, is a pathological condition that...
Pelvic venous congestion syndrome
Pelvic venous congestion syndrome (PVCS) is a pathological condition characterized by impaired ve...
Partial Androgen Insensitivity Syndrome (PAIS)
Partial androgen insensitivity syndrome (PAIS) is a rare genetic disorder first described in the literature...
Peeling skin syndrome
Peeling skin syndrome, also known as exfoliative dermatitis, is a rare skin disorder characterized by...
PIK3CA-associated overgrowth spectrum
PIK3CA-associated overgrowth spectrum disorders are a group of disorders caused by mutations in the PIK3CA gene, located in the...
Pulmonary valve stenosis
Pulmonary valve stenosis is a narrowing of the opening of the pulmonary valve, which prevents the normal flow of blood from the right ventricle...
Pulmonary vein stenosis
Pulmonary vein stenosis is a narrowing of the pulmonary vein that can lead to poor blood flow in the lungs and cause...
Persistent genital arousal disorder
Persistent genital arousal disorder (PGAD) is a pathological condition characterized by persistent, sometimes ...
Punctate internal choroidopathy
Punctate internal choroidopathy (PIC) is an eye disorder characterized by the formation of multiple small structures in the eye...
Punctate palmoplantar keratoderma type 1
Punctate palmoplantar keratoderma type 1 (TPK 1) is an inherited disorder characterized by the appearance of small, symmetrical...
Punctate porokeratosis
Punctate porokeratosis (TPK) is a corneal disorder characterized by the appearance of multiple microabrasions and opacities, often...
Thrombocytopenia Paris-Trousseau
Paris-Trousseau thrombocytopenia (PTT) is a rare disorder characterized by low levels of platelets in the blood, which...
Pulmonary embolism
Pulmonary embolism (PE) is a serious and life-threatening condition caused by blockage of the arteries in the lungs...
Pulmonary tuberculosis
Pulmonary tuberculosis is an infectious disease caused by mycobacteria, most commonly Mycobacterium tuberculosis. It is a...
Polyarteritis nodosa
Polyarteritis nodosa (PAN) is a systemic inflammatory disease characterized by necrotizing vasculitis...
Nodular pruritus
Prurigo nodularis (or nodular eczema) is a chronic inflammatory skin condition characterized by the appearance of ...
Phantom limb pain
Phantom limb pain is a complex and poorly understood phenomenon that occurs in patients who have undergone amputation. These pains are...
Phenylketonuria (PKU)
Phenylketonuria (PKU) is an inherited metabolic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase, resulting in...
Pheochromocytoma
Pheochromocytoma is a tumor of the adrenal gland characterized by excessive secretion of catecholamines such as adrenaline and no...
