Xenbase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 ???pagination.result.next???

Disease	Synonyms	Description	Articles
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. [-]	4 articles
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. [-]	3 articles
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 [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet 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	severe autosomal recessive macrothrombocytopenia; .. [+] severe autosomal recessive macrothrombocytopenia; BDPLT19 [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet 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 CalDAG-GEFI defi.. [+] BDPLT18; bleeding disorder due to CalDAG-GEFI deficiency; bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet 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	BDPLT15; autosomal dominant macrothrombocytopenia .. [+] BDPLT15; autosomal dominant macrothrombocytopenia ACTN1-related [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet 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 [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet 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	platelet type-von Willebrand disease; pseudo-von W.. [+] platelet type-von Willebrand disease; pseudo-von Willebrand disease; PT-VWD; 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	glycoprotein VI deficiency; GP VI deficiency; BDPL.. [+] glycoprotein VI deficiency; GP VI deficiency; BDPLT11 [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet 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 COX1 deficiency; platelet prostaglandin-e.. [+] platelet COX1 deficiency; platelet prostaglandin-endoperoxide synthase 1 deficiency; platelet cyclooxygenase 1 deficiency; PGHS1 deficiency; BDPLT12 [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet 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; hereditary bundle branch defect; familial progressive heart block [-]	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. [-]
palmoplantar keratoderma and congenital alopecia 2	PPK-CA, Wallis type; PPKCA Wallis type; PPKCA2; pa.. [+] PPKCA2; PPKCA Wallis type; PPK-CA, Wallis type; palmoplantar keratoderma and congenital alopecia, Wallis type; autosomal recessive palmoplantar hyperkeratosis and congenital alopecia; autosomal recessive palmoplantar keratoderma and congenital alopecia; CASS; cataract-alopecia-sclerodactyly syndrome [-]	An ectodermal dysplasia characterized by autosomal..[+] An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. [-]
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. [-]
postaxial acrofacial dysostosis	POADS; Postaxial acrodysostosis; acrofacial dysost.. [+] Postaxial acrodysostosis; POADS; acrofacial dysostosis, Genee-Wiedmann type; Miller syndrome; mandibulfacial dysostosis with postaxial limb anomalies [-]	A syndrome characterized by severe micrognathia, c..[+] A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2. [-]
phosphoribosylpyrophosphate synthetase superactivity	PRPS1 superactivity; PRPP synthetase superactivity.. [+] PRPS1 superactivity; PRPP synthetase superactivity [-]	An inherited metabolic disorder characterized by i..[+] An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset. [-]
psoriasis 15	PSORS15	A psoriasis characterized by pustular psoriasis th..[+] A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in the AP1S3 gene on chromosome 2q36.1. [-]
psoriasis 13	PSORS13	A psoriasis that has_material_basis_in variation i..[+] A psoriasis that has_material_basis_in variation in the TRAF3IP2 gene on chromosome 6q21. [-]
pyridoxamine 5'-phosphate oxidase deficiency	pyridoxal phosphate-dependent seizures; pyridoxami.. [+] pyridoxal phosphate-dependent seizures; pyridoxamine 5'-oxidase deficiency; pyridoxamine 5-prime-phosphate oxidase deficiency; pyridoxal phosphate-responsive 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. [-]
Pitt-Hopkins-like syndrome 2	PTHSL2	A syndromic intellectual disability characterized ..[+] A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3. [-]
primary failure of tooth eruption	PFE; primary retention of teeth; dental noneruptio.. [+] primary retention of teeth; PFE; dental noneruption; familial posterior openbite malocclusion; nonsyndromic primary failure of eruption; unerupted second primary molar [-]	A tooth disease characterized by incomplete tooth ..[+] A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. [-]
progressive myoclonus epilepsy 4	action myoclonus-renal failure syndrome; AMRF; EPM.. [+] action myoclonus-renal failure syndrome; AMRF; EPM4; Myoclonus-nephropathy syndrome [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1. [-]
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 3	Progressive myoclonus epilepsy type 3; Progressive.. [+] Progressive myoclonus epilepsy type 3; Progressive myoclonic epilepsy due to KCTD7 deficiency; PME type 3; CLN14 disease; neuronal ceroid lipofuscinosis 14; EPM3 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21. [-]
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. [-]	1 articles
progressive myoclonus epilepsy 1B	EPM1B	An Unverricht-Lundborg syndrome that has_material_..[+] An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12. [-]
progressive myoclonus epilepsy 6	PME type 6; Progressive myoclonus epilepsy type 6; .. [+] Progressive myoclonus epilepsy type 6; PME type 6; EPM6; GOSR2-related progressive myoclonus ataxia; North Sea progressive myoclonus epilepsy [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. [-]
progressive myoclonus epilepsy 9	progressive myoclonus epilepsy type 9; progressive.. [+] progressive myoclonus epilepsy type 9; progressive myoclonic epilepsy due to LMNB2 deficiency; PME type 9; EMP9 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3. [-]
progressive myoclonus epilepsy 8	progressive myoclonus epilepsy type 8; progressive.. [+] progressive myoclonus epilepsy type 8; progressive myoclonic epilepsy due to CERS1 deficiency; PME type 8; EMP8 [-]	A progressive myoclonus epilepsy characterized by ..[+] A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. [-]
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. [-]
palmoplantar keratoderma-deafness syndrome	palmoplantar hyperkeratosis-deafness syndrome; pal.. [+] palmoplantar hyperkeratosis-deafness syndrome; palmoplantar hyperkeratosis-hearing loss syndrome; palmoplantar keratoderma-hearing loss syndrome; PPK-deafness syndrome; palmoplantar keratoderma with deafness; keratoderma palmoplantar deafness [-]	A syndrome characterized by sensorineural hearing ..[+] A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. [-]
palmoplantar keratoderma-esophageal carcinoma syndrome	palmoplantar keratoderma with esophageal cancer; p.. [+] palmoplantar keratoderma with esophageal cancer; palmoplantar hyperkeratosis-esophageal carcinoma syndrome; Bennion-Patterson syndrome; Howell-Evans syndrome; keratosis palmaris et plantaris with esophageal cancer; keratosis palmoplantaris-esophageal carcinoma syndrome; TOC; tylosis with esophageal cancer; tylosis-oesophageal carcinoma syndrome [-]	A syndrome characterized by palmoplantar keratoder..[+] A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. [-]
progressive osseous heteroplasia	POH; ectopic ossification familial type; familial .. [+] POH; ectopic ossification familial type; familial ectopic ossification; osteoma cutis [-]	A syndrome characterized by infantile onset of der..[+] A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32. [-]

???pagination.result.page??? ???pagination.result.prev??? 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 ???pagination.result.next???