Rare Disease Index
9,491 diseasespatella aplasia/hypoplasia, unilateral
human disease
patellar dysostosis
human disease
patent ductus arteriosus
condition wherein the ductus arteriosus fails to close after birth
MeSH: D004374
patent ductus arteriosus 1
human disease
patent ductus arteriosus 3
human disease
patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
MeSH: C565782
patent foramen ovale
hearth defect
MeSH: D054092
patent urachus
developmental defect during embryogenesis
paternal 14q32.2 hypomethylation syndrome
human disease
paternal 14q32.2 microdeletion syndrome
human disease
paternal 20q13.2q13.3 microdeletion syndrome
paternal uniparental disomy of chromosome 1
human disease
paternal uniparental disomy of chromosome 13
human disease
paternal uniparental disomy of chromosome 14
human disease
MeSH: C536471
paternal uniparental disomy of chromosome 20
paternal uniparental disomy of chromosome 21
human disease
paternal uniparental disomy of chromosome 5
human disease
paternal uniparental disomy of chromosome 6
human disease
paternal uniparental disomy of chromosome 7
human disease
paternal uniparental disomy of chromosome X
human disease
patterned macular dystrophy
macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped
patterned macular dystrophy 3
human disease
Patterson syndrome
human disease
MeSH: C536310
Patterson-Stevenson-Fontaine syndrome
Patterson-Stevenson-Fontaine syndrome is a very rare variant of acrofacial dysostosis characterized by mandibulofacial dysostosis and limb anomalies
pauci-immune glomerulonephritis
Pauci-immune glomerulonephritis with ANCA
Pauci-immune glomerulonephritis without ANCA
PCNA-related progressive neurodegenerative photosensitivy syndrome
human disease
PCWH syndrome
human disease
MeSH: C563789
Pearson syndrome
mitochondrial metabolism disease