Rare Disease Library

Opsoclonus-myoclonus syndrome

Ataxo-opso-myoclonus syndrome · Dancing eye syndrome

Otofaciocervical syndrome

Fara-Chlupackova syndrome · OFC syndrome

PAGOD syndrome

Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome

Pai syndrome

Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome

Painful legs and moving toes syndrome

PLMT syndrome

PAPA syndrome

FRA · Familial recurrent arthritis

PAPASH syndrome

Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome

PARC syndrome

Poikiloderma-alopecia-retrognathism-cleft palate syndrome

PASH syndrome

Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome

PLACK syndrome

PEHO syndrome

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

Pelizaeus-Merzbacher disease, classic form

Classic PMD

Pelviscapular dysplasia

Cousin syndrome · Familial pelvis-scapular dysplasia

Pendred syndrome

Goiter-deafness syndrome · Goiter-hearing loss syndrome

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Perry syndrome

Parkinsonism with alveolar hypoventilation and mental depression

PFAPA syndrome

Marshall syndrome with periodic fever · Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome

Pfeiffer syndrome type 1

Classic Pfeiffer syndrome

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

PHAVER syndrome

Powell-Chandra-Saal syndrome

PIBIDS syndrome

Trichothiodystrophy type F · Trichothiodystrophy-sun sensitivity syndrome

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Poland syndrome

Poland anomaly · Poland sequence

Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome

PMSE syndrome

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

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

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

Progressive supranuclear palsy

PSP syndrome

Progressive supranuclear palsy-corticobasal syndrome

PSP-CBS · PSP-corticobasal syndrome

PsAPASH syndrome

Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome

PUM1-associated developmental disability-ataxia-seizure syndrome

PADDAS syndrome

Pyknoachondrogenesis

Camera syndrome

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Severe oculo-renal-cerebellar syndrome

Hunter-Jurenka-Thompson syndrome · Oculorenocerebellar syndrome

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

SAMS syndrome

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SOFT syndrome

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

SOPH syndrome

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome

SINO syndrome

Spinal arteriovenous metameric syndrome

Cutaneomeningospinal angiomatosis · SAMS 1-31

Syndactyly-telecanthus-anogenital and renal malformations syndrome

STAR syndrome

Tetraamelia-multiple malformations syndrome

Zimmer phocomelia · PAPPAS