Rare Disease Library

Poland syndrome

Poland anomaly · Poland sequence

Pollitt syndrome

Trichorrhexis nodosa syndrome · Trichothiodystrophy type C

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

PMSE syndrome

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

Lundberg syndrome

Postpoliomyelitis syndrome

Postpolio sequelae · Postpolio syndrome

Potocki-Shaffer syndrome

11p11.2 deletion · Proximal 11p deletion syndrome

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

Progressive supranuclear palsy

PSP syndrome

Rotor syndrome

Hyperbilirubinemia, Rotor type

Short stature due to growth hormone qualitative anomaly

Kowarski syndrome

Sotos syndrome

Cerebral gigantism

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS

Toxic epidermal necrolysis

Lyell syndrome

Trisomy 13 syndrome

Patau syndrome

Van der Woude syndrome

Cleft lip/palate with mucous cysts of lower lip · Lip-pit syndrome

W syndrome

Pallister-W syndrome

X-linked dystonia-parkinsonism

DYT3 · Lubag