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Disease	Synonyms	Description
primary ciliary dyskinesia 13	primary ciliary dyskinesia 13 with or without situ.. [+] primary ciliary dyskinesia 13 with or without situs inversus; CILD13 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24. [-]
primary ciliary dyskinesia 33	primary ciliary dyskinesia 33 without situs invers.. [+] primary ciliary dyskinesia 33 without situs inversus; CILD33 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24. [-]
primary ciliary dyskinesia 35	primary ciliary dyskinesia 35 with or without situ.. [+] primary ciliary dyskinesia 35 with or without situs inversus; CILD35 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21. [-]
primary ciliary dyskinesia 17	primary ciliary dyskinesia 17 with or without situ.. [+] primary ciliary dyskinesia 17 with or without situs inversus; CILD17 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21. [-]
primary ciliary dyskinesia 9	primary ciliary dyskinesia 9 with or without situs.. [+] primary ciliary dyskinesia 9 with or without situs inversus; CILD9 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25. [-]
primary ciliary dyskinesia 15	primary ciliary dyskinesia 15 with or without situ.. [+] primary ciliary dyskinesia 15 with or without situs inversus; CILD15 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25. [-]
primary ciliary dyskinesia 30	primary ciliary dyskinesia 30 without situs invers.. [+] primary ciliary dyskinesia 30 without situs inversus; CILD30 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13. [-]
primary ciliary dyskinesia 20	primary ciliary dyskinesia 20 with or without situ.. [+] primary ciliary dyskinesia 20 with or without situs inversus; CILD20 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13. [-]
primary ciliary dyskinesia 2	primary ciliary dyskinesia 2 with or without situs.. [+] primary ciliary dyskinesia 2 with or without situs inversus; CILD2 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13. [-]
primary ciliary dyskinesia 26	primary ciliary dyskinesia 26 with or without situ.. [+] primary ciliary dyskinesia 26 with or without situs inversus; CILD26 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22. [-]
primary ciliary dyskinesia 24	primary ciliary dyskinesia 24 without situs invers.. [+] primary ciliary dyskinesia 24 without situs inversus; CILD24 [-]	A primary ciliary dyskinesia that is characterized..[+] A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22. [-]
posterior polymorphous corneal dystrophy 1	Ppcd1; Ched1; Corneal Endothelial Dystrophy 1, Aut.. [+] Ppcd1; Ched1; Corneal Endothelial Dystrophy 1, Autosomal Dominant; Maumenee Corneal Dystrophy [-]	A posterior polymorphous corneal dystrophy that ha..[+] A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. [-]
posterior polymorphous corneal dystrophy 2	Ppcd2	A posterior polymorphous corneal dystrophy that ha..[+] A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3. [-]
posterior polymorphous corneal dystrophy 3	Ppcd3	A posterior polymorphous corneal dystrophy that ha..[+] A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22. [-]
polycystic kidney disease 1	Pkd1; Polycystic Kidney Disease, Adult, Type I; Ap.. [+] Polycystic Kidney Disease, Adult, Type I; Pkd1; Apkd1 [-]	A autosomal dominant polycystic kidney disease tha..[+] A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3. [-]
polycystic kidney disease 2	Pkd2; Polycystic Kidney Disease, Adult, Type II; A.. [+] Polycystic Kidney Disease, Adult, Type II; Pkd2; Apkd2 [-]	A autosomal dominant polycystic kidney disease tha..[+] A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1. [-]
polycystic kidney disease 3	Pkd3; Polycystic Kidney Disease, Adult, Type III; .. [+] Polycystic Kidney Disease, Adult, Type III; Pkd3; Apkd3 [-]	A autosomal dominant polycystic kidney disease tha..[+] A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3. [-]
platelet-type bleeding disorder 9	BDPLT9; collagen platelet receptor deficiency; gly.. [+] BDPLT9; collagen platelet receptor deficiency; glycoprotein Ia deficiency; GP Ia deficiency [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. [-]
platelet-type bleeding disorder 10	platelet glycoprotein IV deficiency; BDPLT10; CD36.. [+] platelet glycoprotein IV deficiency; BDPLT10; CD36 deficiency [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21. [-]
platelet-type bleeding disorder 14	BDPLT14; thromboxane synthase deficiency	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. [-]
platelet-type bleeding disorder 19	BDPLT19; severe autosomal recessive macrothrombocy.. [+] BDPLT19; severe autosomal recessive macrothrombocytopenia [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21 [-]
platelet-type bleeding disorder 17	BDPLT17; hereditary thrombasthenia-thrombocytopeni.. [+] BDPLT17; hereditary thrombasthenia-thrombocytopenia [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. [-]
platelet-type bleeding disorder 18	BDPLT18; bleeding disorder due to calcium- and DAG.. [+] BDPLT18; bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency; bleeding disorder due to CalDAG-GEFI deficiency [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13. [-]
platelet-type bleeding disorder 15	autosomal dominant macrothrombocytopenia ACTN1-rel.. [+] autosomal dominant macrothrombocytopenia ACTN1-related; BDPLT15 [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. [-]
platelet-type bleeding disorder 20	autosomal dominant thrombocytopenia with platelet .. [+] autosomal dominant thrombocytopenia with platelet secretion defect; BDPLT20 [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. [-]
platelet-type bleeding disorder 3	pseudo-von Willebrand disease; PT-VWD; platelet ty.. [+] PT-VWD; pseudo-von Willebrand disease; platelet type-von Willebrand disease; BDPLT3; von Willebrand disease platelet-type [-]	A blood platelet disease characterized by enhanced..[+] A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2. [-]
platelet-type bleeding disorder 11	BDPLT11; glycoprotein VI deficiency; GP VI deficie.. [+] BDPLT11; glycoprotein VI deficiency; GP VI deficiency [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. [-]
platelet-type bleeding disorder 12	platelet prostaglandin-endoperoxide synthase 1 def.. [+] platelet prostaglandin-endoperoxide synthase 1 deficiency; platelet cyclooxygenase 1 deficiency; platelet COX1 deficiency; PGHS1 deficiency; BDPLT12 [-]	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. [-]
progressive familial heart block	PFHB; familial Lenegre disease; familial Lev disea.. [+] PFHB; familial Lenegre disease; familial Lev disease; familial Lev-Lenegre disease; familial PCCD; familial progressive heart block; hereditary bundle branch defect [-]	A heart conduction disease characterized by autoso..[+] A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death. [-]
progressive familial heart block type IA	PFHB1A	A progressive familial heart block characterized b..[+] A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21. [-]
progressive familial heart block type II	PFHB2	A progressive familial heart block characterized b..[+] A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32. [-]
progressive familial heart block type IB	PFHB1B	A progressive familial heart block characterized b..[+] A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. [-]
pyruvate kinase deficiency of red cells	pyruvate kinase deficiency of erythrocyte; PK defi.. [+] pyruvate kinase deficiency of erythrocyte; PK deficiency; hemolytic anemia due to red cell pyruvate kinase deficiency [-]	A congenital nonspherocytic hemolytic anemia that ..[+] A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. [-]
preterm premature rupture of the membranes	PPROM	A female reproductive system disease characterized..[+] A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. [-]
Prinzmetal angina	Prinzmetal's angina; Prinzmetal's variant angina; .. [+] Prinzmetal's variant angina; Prinzmetal's angina; angina inversa; variant angina; variant angina pectoris [-]	A coronary artery vasospasm characterized by spasm..[+] A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity. [-]
postural orthostatic tachycardia syndrome	postural tachycardia syndrome due to NET deficienc.. [+] postural tachycardia syndrome due to NET deficiency; familial orthostatic tachycardia due to norepinephrine transporter deficiency; irritable heart; mitral valve prolapse syndrome; neurocirculatory asthenia; orhtostatic intolerance; orthostatic intolerance due to NET deficiency; soldiers heart [-]	A heart conduction disease characterized by orthos..[+] A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. [-]
partial trisomy distal 4q	Partial Trisomy 4q Syndrome; Chromosome 4, Partial.. [+] Partial Trisomy 4q Syndrome; Chromosome 4, Partial Trisomy 4q (4q2 and 4q3, included); Chromosome 4, Partial Trisomy 4q (4q21-qter to 4q32-qter, included); Distal 4q Trisomy; Dup(4q) Syndrome, Partial; Duplication 4q Syndrome, Partial [-]	A chromosomal duplication syndrome characterized b..[+] A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q. [-]
palmoplantar keratoderma and congenital alopecia 1	PPKCA Stevanovic type; PPKCA1; PPK-CA, Stevanovic .. [+] PPKCA1; PPKCA Stevanovic type; PPK-CA, Stevanovic type; palmoplantar keratoderma and congenital alopecia, Stevanovic type; autosomal dominant palmoplantar hyperkeratosis and congenital alopecia; autosomal dominant palmoplantar keratoderma and congenital alopecia; keratoderma-hypotrichosis-leukonychia totalis syndrome [-]	An ectodermal dysplasia characterized by autosomal..[+] An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. [-]
Parkinson's disease 3	PARK3; Parkinson disease 3; autosomal dominant Lew.. [+] Parkinson disease 3; PARK3; autosomal dominant Lewy body Parkinson disease 3; autosomal dominant Parkinson disease 3 [-]	A late onset Parkinson's disease characterized by ..[+] A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region. [-]
Parkinson's disease 21	Parkinson disease 21; PARK21	A late onset Parkinson's disease characterized by ..[+] A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years. [-]
pentosuria	PNTSU; essential pentosuria; L-xylulose reductase .. [+] PNTSU; essential pentosuria; L-xylulose reductase deficiency; L-xylulosuria; xylitol dehydrogenase deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3. [-]
psoriasis 7	PSORS7	A psoriasis that has_material_basis_in variation i..[+] A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R. [-]
psoriasis 4	PSORS4	A psoriasis that has_material_basis_in variation i..[+] A psoriasis that has_material_basis_in variation in a region on chromosome 1q21. [-]
psoriasis 9	PSORS9	A psoriasis that has_material_basis_in variation i..[+] A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34. [-]
pyridoxamine 5'-phosphate oxidase deficiency	pyridoxamine 5-prime-phosphate oxidase deficiency; .. [+] pyridoxamine 5-prime-phosphate oxidase deficiency; pyridoxamine 5'-oxidase deficiency; pyridoxal phosphate-responsive seizures; pyridoxal phosphate-dependent seizures; pyridoxal 5'-phosphate-dependent epilepsy; PNPO-related neonatal epileptic encephalopathy; PNPO deficiency [-]	A vitamin metabolic disorder characterized by vita..[+] A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32. [-]
progressive myoclonus epilepsy 10	early-onset Lafora body disease; EPM10	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21. [-]
progressive myoclonus epilepsy 7	Progressive myoclonus epilepsy type 7; Progressive.. [+] Progressive myoclonus epilepsy type 7; Progressive myoclonic epilepsy due to KV3.1 deficiency; PME type 7; EPM7; MEAK; Myoclonus epilepsy and ataxia due to potassium channel mutation [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. [-]
progressive myoclonus epilepsy 1A	EPM1A	An Unverricht-Lundborg syndrome that has_material_..[+] An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. [-]
prolidase deficiency	peptidase deficiency; hyperimidodipeptiduria; imid.. [+] peptidase deficiency; hyperimidodipeptiduria; imidodipeptidase deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11. [-]
plasminogen deficiency type I	hypoplasminogenemia	A syndrome characterized by decreased serum plasmi..[+] A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26. [-]

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