NOP10
Dyskeratosis congenita
AR
NRAS
Noonan syndrome
AD
NSMCE3
Lung disease, immunodeficiency, and chromosome breakage syndrome (LICS)
AR
OBFC1
OFD1
Simpson-Golabi-Behmel syndrome, Retinitis pigmentosa, Orofaciodigital syndrome, Joubert syndrome
XL
ORAI1
Immunodeficiency, Myopathy, tubular aggregate, 2
AD/AR
OTULIN
Autoinflammation, panniculitis, and dermatosis syndrome (AIPDS)
AR
PARN*
Pulmonary fibrosis and/or bone marrow failure, Dyskeratosis congenita
AD/AR
PEPD
Prolidase deficiency
AR
PGM3
Immunodeficiency 23
AR
PIGA*
Multiple congenital anomalies-hypotonia-seizures syndrome
XL
PIH1D3
Ciliary dyskinesia, primary, 36
XL
PIK3CD*
Immunodeficiency
AD
PIK3R1
Agammaglobulinemia, SHORT syndrome
AD/AR
PLCG2
Familial cold autoinflammatory syndrome 3 (PLAID), Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
AD
PMS2*
Mismatch repair cancer syndrome, Colorectal cancer, hereditary nonpolyposis
AD/AR
PNP
Purine nucleoside phosphorylase deficiency
AR
POLA1
Pigmentary disorder, reticulate, with systemic manifestations, X-linked, Neurodevelopmental disorder
POLD1
Colorectal cancer, Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, Idiopathic bronchiectasis, Immunodeficiency
AD/AR
POLE
Colorectal cancer, Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
AD/AR
POLE2
Combined immunodeficiency
AR
POMP
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma
AR
PRF1
Lymphoma, non-Hodgkin, Aplastic anemia, adult-onset, Hemophagocytic lymphohistiocytosis
AR
PRG4
Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
AR
PRKCD
Autoimmune lymphoproliferative syndrome type III
AR
