Rare Disease Library

Partington-Anderson syndrome

PASH syndrome

Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome

PASS syndrome

Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome

Patella aplasia-coxa vara-tarsal synostosis syndrome

Patellar dysostosis

Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome

Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome

Patent urachus

Paternal 20q13.2q13.3 microdeletion syndrome

Paternal del(20)(q13.2q13.3) · Paternal monosomy 20q13.2q13.3

Paternal uniparental disomy of chromosome 1 syndrome

UPD(1)pat

Paternal uniparental disomy of chromosome 13 syndrome

UPD(13)pat

Paternal uniparental disomy of chromosome 20 syndrome

UPD(20)pat · Paternal UPD(20)

Paternal uniparental disomy of chromosome 21 syndrome

UPD(21)pat

Paternal uniparental disomy of chromosome 5 syndrome

UPD(5)pat

Paternal uniparental disomy of chromosome 6 syndrome

UPD(6)pat

Paternal uniparental disomy of chromosome 7 syndrome

UPD(7)pat

Paternal uniparental disomy of chromosome X syndrome

UPD(X)pat

Paternal uniparental disomy syndrome

Pattern dystrophy

Patterned dystrophy of the retinal pigment epithelium

Patterson-Stevenson-Fontaine syndrome

Patterson-Stevenson syndrome · Split foot deformity-mandibulofacial dysostosis syndrome

Pauci-immune glomerulonephritis

Pauci-immune glomerulonephritis with ANCA

Pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody

Pauci-immune glomerulonephritis without ANCA

Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis · Pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody

PBX1-related congenital anomalies of kidney-urinary tract syndrome

PBX1-related syndromic CAKUT

PCNA-related progressive neurodegenerative photosensitivity syndrome

PDE4D haploinsufficiency syndrome

Pectus excavatum-macrocephaly-dysplastic nails syndrome

Zori-Stalker-Williams syndrome

Pediatric acute respiratory distress syndrome

Pediatric ARDS · PARDS

Pediatric arterial ischemic stroke

Childhood AIS · Childhood arterial ischemic stroke

Pediatric collagenous gastritis

Childhood-onset collagenous gastritis

Pediatric hepatocellular carcinoma

Childhood-onset HCC · Childhood-onset hepatocellular carcinoma

Pediatric multiple sclerosis

Pediatric systemic lupus erythematosus

Disseminated lupus erythematosus · Lupus

Pediatric-onset glaucoma

Pediatric-onset glaucoma of genetic origin

Hereditary glaucoma

Pediatric-onset Graves disease

Pediatric-onset Basedow disease

Peeling skin syndrome

Deciduous skin · Familial continuous skin peeling syndrome

Peeling skin syndrome type A

Generalized peeling skin syndrome type A · Non-inflammatory generalized peeling skin syndrome type A.

Peeling skin syndrome type B

Generalized peeling skin syndrome type B · Inflammatory peeling skin syndrome

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

PLACK syndrome

PEHO syndrome

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

PEHO-like syndrome

Pelizaeus-Merzbacher disease

Diffuse familial brain sclerosis · PMD

Pelizaeus-Merzbacher disease in female carriers

Pelizaeus-Merzbacher disease, classic form

Classic PMD

Pelizaeus-Merzbacher disease, connatal form

Connatal PMD · Pelizaeus-Merzbacher disease type II

Pelizaeus-Merzbacher disease, transitional form

Transitional PMD

Pelizaeus-Merzbacher-like disease

PMLD

Pelizaeus-Merzbacher-like disease due to AIMP1 mutation