Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
Pallister-Killian syndrome 26 ORPHA884 Q99.8 #601803 Isochromosome 12p mosaicism; Isochromosome 12p syndrome; Pallister-Killian syndrome
Palliste-W syndrome 0 ORPHA2804 Q87.8 #311450 Pallister-W syndrome
Paroxysmal nocturnal hemoglobinuria 155 ORPHA447 D59.5 #300818 #615399 Marchiafava-Micheli disease; PNH
Pearson syndrome 5 ORPHA699 D64.0 #557000
Pelizaeus-Merzbacher disease 17 ORPHA702 E75.2 #213900 #312080 Diffuse familial brain sclerosis; PMD; Pelizaeus-Merzbacher brain sclerosis; Sudanophilic leukodystrophy, Paelizeus-Merzbacher type
Pemphigus 2070 ORPHA704 L10 #169610
Persistence of the pupillary membrane 6 Q13 Q13.8
Peters plus syndrome 25 ORPHA709 Q13.4 #261540 Krause-Kivlin syndrome; Krause-van Schooneveld-Kivlin syndrome; Peters anomaly with short limb dwarfism;
Peutz-Jeghers syndrome 81 ORPHA2869 Q85.8 #175200 Hamartomatous intestinal polyposis; PJS; Polyps and spots syndrome
Pfeiffer syndrome 32 ORPHA710 Q87.0 #101600 ACS5; Acrocephalosyndactyly type 5
Phocomelia 46 ORPHA294975 Q71.1 #276820
Pierre Robin syndrome 53 ORPHA718 Q87.0 #261800 Isolated Pierre Robin sequence
Platelet storage pool disease 11 ORPHA98454 D69.2 #185050
POEMS syndrome 32 ORPHA2905 D47.7 Crow-Fukase syndrome; Osteosclerotic myeloma; PEP syndrome; Polyneuropathy - endocrinopathy - plasma cell dyscrasia; Takatsuki syndrome
Poland syndrome 475 ORPHA2911 Q79.8 1738 Poland anomaly; Poland sequence
Polyarteritis nodosa 202 ORPHA767 M30.0 Küssmaul-Maier disease; PAN; Periarteritis nodosa;
Polychondritis 115 ORPHA728 M94.1 RP;Relapsing polychondritis
Polycystic liver disease 171 ORPHA2924 Q44.6 #174050 ADPCLD; Autosomal dominant polycystic liver disease; PCLD
Polymyositis 974 ORPHA732 M33.2 PM
Porphyria 435 ORPHA738 E80.0 E80.1 E80.2
Posterior polymorphous corneal dystrophy 8 H18.5 #122000 #609140 #609141 PPCD; Posterior polymorphous dystrophy; Schlichting dystrophy
Prader-Willi syndrome 591 NDN; SNRPN; MAGEL2 ORPHA739 Q87.1 #176270 #615547 Prader-Labhart-Willi syndrome; Willi-Prader syndrome
Primary and familial Amyloidosis 1160 ORPHA69 E85
Primary Craniosynostosis 447 ORPHA1531 Q75.0
Primary hereditary thrombocytopenias 136 G12.1
Primary immunodeficiency 2351 ORPHA101997 D80 D81 D82 D83 D84
Primary intestinal lymphangiectasia 2 ORPHA90362 I89.9 %152800 Waldmann disease
Primary lateral sclerosis 258 ORPHA247604 G12.2 #611637 Adult-onset PLS; Adult-onset primary lateral sclerosis; PLS
Primary sclerosing cholangitis 502 ORPHA171 K83.0 #602114 #613806 PSC
Progressive cone dystrophy 124 ORPHA1871 H35.5 #180020 #300085 #303700 #304030 #602093 #613093 Cone dytrophy