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Disease	Synonyms	Description	Articles
Parkinson's disease 7	autosomal recessive early-onset Parkinson disease .. [+] autosomal recessive early-onset Parkinson disease 7; autosomal recessive early-onset Parkinson's disease 7 [-]	An early-onset Parkinson's disease that has_materi..[+] An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. [-]	1 articles
Parkinson's disease 8	autosomal dominant Parkinson disease 8; autosomal .. [+] autosomal dominant Parkinson disease 8; autosomal dominant Parkinson's disease 8 [-]	A late onset Parkinson's disease that has_material..[+] A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12. [-]	1 articles
Parkinson's disease 15	pallidopyramidal syndrome; Parkinsonian-pyramidal .. [+] pallidopyramidal syndrome; Parkinsonian-pyramidal syndrome; autosomal recessive early-onset Parkinson disease 15; autosomal recessive early-onset Parkinson's disease 15 [-]	An early-onset Parkinson's disease that has_materi..[+] An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. [-]
posterior amorphous corneal dystrophy	PACD; chromosome 12q21.33 deletion syndrome	A stromal dystrophy that is characterized by irreg..[+] A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome. [-]
posterior polymorphous corneal dystrophy	PPCD; Schlichting dystrophy; hereditary polymorphu.. [+] PPCD; Schlichting dystrophy; hereditary polymorphus posterior corneal dystrophy [-]	A corneal dystrophy that is characterized by chang..[+] A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer. [-]
Perlman syndrome	nephroblastomatosis - fetal ascites - macrosomia -.. [+] nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor; nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor; renal hamartomas, nephroblastomatosis and fetal gigantism [-]	A syndrome characterized by polyhydramnios with ne..[+] A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. [-]
Perry syndrome	parkinsonism with alveolar hypoventilation and men.. [+] parkinsonism with alveolar hypoventilation and mental depression [-]	A syndrome characterized by parkinsonism, hypovent..[+] A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13. [-]
Pitt-Hopkins syndrome		A syndrome characterized by intellectual disabilit..[+] A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. [-]
pollen allergy		A respiratory allergy triggered by pollen.
peach allergy	Prunus persica fruit allergy	A fruit allergy triggered by Prunus persica plant ..[+] A fruit allergy triggered by Prunus persica plant fruit food product. [-]
plum allergy	Prunus domestica fruit allergy	A fruit allergy triggered by Prunus domestica plan..[+] A fruit allergy triggered by Prunus domestica plant fruit food product. [-]
penicillin allergy		A beta-lactam allergy triggered by penicillin.
purpura fulminans	purpura gangrenosa	A purpura characterized by blood spots, bruising a..[+] A purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagulation. It is often fatal. [-]
poikiloderma with neutropenia	poikiloderma with neutropenia, Clericuzio type	A skin disease characterized by poikiloderma, hype..[+] A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13. [-]
permanent neonatal diabetes mellitus	PNDM; permanent diabetes mellitus of infancy; PDMI.. [+] permanent diabetes mellitus of infancy; PNDM; PDMI [-]	A neonatal diabetes that has_material_basis_in hom..[+] A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene. [-]	1 articles
primary sclerosing cholangitis		A sclerosing cholangitis characterized by fibroobl..[+] A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. [-]
Peters anomaly		A corneal disease characterized by a central corne..[+] A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3. [-]
pigment dispersion syndrome	pigment-dispersion type glaucoma; glaucoma-related.. [+] pigment-dispersion type glaucoma; glaucoma-related pigment dispersion syndrome [-]	An eye disease characterized by slit-like depigmen..[+] An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma. [-]
platelet-type bleeding disorder 16	autosomal dominant Glanzmann thrombasthenia; autos.. [+] autosomal dominant Glanzmann thrombasthenia; autosomal dominant thrombasthenia of Glanzmann and Naegeli [-]	A blood platelet disease characterized by autosoma..[+] A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. [-]
platelet-type bleeding disorder 8	P2Y12 defect; ADP platelet receptor P2Y12 defect	A blood platelet disease characterized by mild to ..[+] A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q. [-]
Pendred Syndrome	congenital hypothyroidism due to dyshormonogenesis.. [+] congenital hypothyroidism due to dyshormonogenesis 2B; deafness with goiter; goiter-deafness syndrome; TDH2B; thyroid dyshormonogenesis 2B; genetic defect in thyroid hormonogenesis 2B [-]	A syndrome characterized by bilateral prelingual s..[+] A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. [-]	4 articles
Prieto syndrome	Prieto-Badia-Mulas syndrome; X-linked intellectual.. [+] Prieto-Badia-Mulas syndrome; X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11. [-]
pemphigus vulgaris	familial pemphigus vulgaris	A pemphigus characterized by autosomal dominant bl..[+] A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. [-]
Pierson syndrome	microcoria-congenital nephrosis syndrome	A syndrome characterized by nephrotic syndrome wit..[+] A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21. [-]
Potocki-Lupski syndrome	17p11.2 microduplication syndrome; chromosome 17p1.. [+] 17p11.2 microduplication syndrome; chromosome 17p11.2 duplication syndrome; trisomy 17p11.2 [-]	A chromosomal duplication syndrome characterized b..[+] A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2. [-]
patterned macular dystrophy	patterned dystrophy of retinal pigment epithelium; .. [+] patterned dystrophy of retinal pigment epithelium [-]	A macular degeneration characterized by abnormal a..[+] A 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 2	butterfly-shaped pigmentary maculary dystrophy 2; .. [+] butterfly-shaped pigmentary maculary dystrophy 2; MDPT2 [-]	A patterned macular dystrophy characterized by bil..[+] A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31. [-]
patterned macular dystrophy 3	MDPT3; Martinique crinkled retinal pigment epithel.. [+] MDPT3; Martinique crinkled retinal pigment epitheliopathy [-]	A patterned macular dystrophy characterized by a '..[+] A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21. [-]
patterned macular dystrophy 1	butterfly-shaped pigmentary maculary dystrophy 1; .. [+] butterfly-shaped pigmentary maculary dystrophy 1; MDPT1 [-]	A patterned macular dystrophy characterized by bil..[+] A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21. [-]
primary hypomagnesemia	primary familial hypomagnesemia; HOMG	A metal metabolism disorder characterized by very ..[+] A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life. [-]	1 articles
prune belly syndrome	abdominal muscle deficiency syndrome; Eagle-Barret.. [+] abdominal muscle deficiency syndrome; Eagle-Barret syndrome; Obrisnksy syndrome [-]	A syndrome that is characterized by megacystis wit..[+] A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. [-]
Parkinson's disease 19A	juvenile onset Parkinson disease 19A; juvenile ons.. [+] juvenile onset Parkinson disease 19A; juvenile onset Parkinson's disease 19A [-]	An early-onset Parkinson's diseas that has_materia..[+] An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. [-]
Parkinson's disease 4	autosomal dominant Lewy body Parkinson disease 4; .. [+] autosomal dominant Lewy body Parkinson disease 4; autosomal dominant Parkinson disease 4; autosomal dominant Parkinson's disease 4 [-]	A late onset Parkinson disease that has_material_b..[+] A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22. [-]
Parkinson's disease 23	autosomal recessive early-onset Parkinson disease .. [+] autosomal recessive early-onset Parkinson disease 23; autosomal recessive early-onset Parkinson's disease 23 [-]	An early-onset Parkinson disease that has_material..[+] An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. [-]
Parkinson's disease 17	Parkinson disease 17; autosomal dominant Parkinson.. [+] Parkinson disease 17; autosomal dominant Parkinson disease 17 [-]	A late-onset Parkinson disease that has_material_b..[+] A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. [-]
Parkinson's disease 20	early-onset Parkinson disease 20; early-onset Park.. [+] early-onset Parkinson disease 20; early-onset Parkinson's disease 20 [-]	An early-onset Parkinson disease that has_material..[+] An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. [-]
Parkinson's disease 14	autosomal recessive Parkinson disease 14; autosoma.. [+] autosomal recessive Parkinson disease 14; autosomal recessive Parkinson's disease 14; Dystonia-Parkinsonism Adult-Onset [-]	A late-onset Parkinson disease that has_material_b..[+] A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. [-]
proteosome-associated autoinflammatory syndrome		A syndrome that is characterized by early onset, d..[+] A syndrome that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications. [-]
proteosome-associated autoinflammatory syndrome 2	PRAAS2	A proteasome-associated autoinflammatory syndrome ..[+] A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12. [-]
proteosome-associated autoinflammatory syndrome 4	PRAAS4	A proteasome-associated autoinflammatory syndrome ..[+] A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11. [-]
proteasome-associated autoinflammatory syndrome 3	PRAAS3	A proteasome-associated autoinflammatory syndrome ..[+] A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy and that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21. [-]
proteosome-associated autoinflammatory syndrome 5	PRAAS5	A proteasome-associated autoinflammatory syndrome ..[+] A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22. [-]
polycystic kidney disease 6		An autosomal dominant polycystic kidney disease ch..[+] An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. [-]
polycystic kidney disease 7		A autosomal dominant polycystic kidney disease cha..[+] A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. [-]
progressive familial intrahepatic cholestasis	PFIC; Byler disease	An intrahepatic cholestasis characterized by early..[+] An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. [-]
progressive familial intrahepatic cholestasis 2	PFIC2; BSEP deficiency	A progressive familial intrahepatic cholestasis ch..[+] A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. [-]
progressive familial intrahepatic cholestasis 3	progressive familial intrahepatic cholestasis with.. [+] progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase; PFIC3; MDR3 deficiency [-]	A progressive familial intrahepatic cholestasis ch..[+] A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. [-]
progressive familial intrahepatic cholestasis 4	PFIC4; TJP2 deficit	A progressive familial intrahepatic cholestasis ch..[+] A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. [-]
progressive familial intrahepatic cholestasis 5	PFIC5; NR1H4 deficiency	A progressive familial intrahepatic cholestasis ch..[+] A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. [-]
progressive familial intrahepatic cholestasis 1	PFIC1; FIC1 deficiency	A progressive familial intrahepatic cholestasis ch..[+] A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. [-]

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