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Each bubble is a syndrome; size reflects symptom count and links connect syndromes that share symptoms. Filter by specialty and tune the overlap threshold.
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All syndromes
931
Pediatrics
Patau syndrome
Trisomy 13 with holoprosencephaly and cleft lip.
Orthopedics Patellofemoral pain syndrome
Anterior knee pain from patellofemoral joint overload.
Neurology Pearson syndrome
Infantile mitochondrial disorder with sideroblastic anemia and pancreatic insufficiency.
Obstetrics and Gynecology Pelvic congestion syndrome
Chronic pelvic pain from ovarian and pelvic venous insufficiency.
Endocrinology Pendred syndrome
Sensorineural hearing loss with goiter and abnormal perchlorate discharge test.
Cardiology Pentalogy of Cantrell
Midline defects: omphalocele, sternal cleft, diaphragmatic, pericardial and cardiac anomalies.
Rheumatology Periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome
Recurrent fever in young children.
Nephrology Perlman syndrome
Overgrowth with nephromegaly and early Wilms tumor.
Endocrinology Perrault syndrome
Sensorineural hearing loss in both sexes with ovarian failure in females.
Endocrinology Persistent Müllerian duct syndrome
46,XY males with retained uterus and fallopian tubes.
Ophthalmology Peters plus syndrome
Peters anomaly with short stature and brachydactyly.
Dermatology Peutz–Jeghers syndrome
Mucocutaneous pigmentation with hamartomatous gastrointestinal polyps.
Pediatrics Pfeiffer syndrome
Craniosynostosis with broad thumbs and great toes.
Dermatology PHACE syndrome
Large facial hemangioma with posterior fossa, arterial, cardiac and eye anomalies.
Neurology Phantom limb syndrome
Perceived pain from an amputated limb.
Neurology Phelan–McDermid syndrome
Neurodevelopmental disorder with SHANK3 haploinsufficiency.
Nephrology Pierson syndrome
Congenital nephrotic syndrome with ocular abnormalities.
Ophthalmology Pigment dispersion syndrome
Iris pigment release into the anterior chamber with trabecular damage.
Neurology Pineal region tumor syndrome
Pineal region tumor effects.
Neurology Piriformis syndrome
Buttock pain from sciatic nerve irritation (controversial).
Genetics Pitt–Hopkins syndrome
Severe intellectual disability with episodic hyperventilation.
Endocrinology Pituitary stalk interruption syndrome
Thin or interrupted pituitary stalk with ectopic posterior pituitary.
Hematology Plummer–Vinson syndrome
Iron-deficiency anemia with dysphagia and esophageal webs.
Hematology POEMS syndrome
Paraneoplastic syndrome of polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes.