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Disease	Synonyms	Description	Articles
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; that has material basis in heterozygous mutation in the DCTN1 gene on chromosome 2p13.. The mean age at onset is 48 years; the mean disease duration is five years. Parkinsonism and psychiatric changes (depression, apathy, character changes, and withdrawal) tend to occur early; severe weight loss and hypoventilation manifest later. [-]
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 gluacoma. [-]
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 variation in the chromosome region Xp11-q21. [-]
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 duplication of a region 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 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. [-]
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. [-]
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. [-]
primary coenzyme Q10 deficiency 1	coenzyme Q deficiency 1; CoQ deficiency 1; CoQ10 d.. [+] coenzyme Q deficiency 1; CoQ deficiency 1; CoQ10 deficiency, primary, 1; COQ10D1; ubiquinone deficiency 1 [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23. [-]
primary coenzyme Q10 deficiency 2	COQ10D2; deafness-encephaloneuropathy-obesity-valv.. [+] COQ10D2; deafness-encephaloneuropathy-obesity-valvulopathy syndrome; hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome; coenzyme Q10 deficiency, primary, 2 [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. [-]
primary coenzyme Q10 deficiency 3	coenzyme Q10 deficiency, primary, 3; COQ10D3	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21. [-]
primary coenzyme Q10 deficiency 4	coenzyme Q10 deficiency, primary, 4; COQ10D4; SCAR.. [+] coenzyme Q10 deficiency, primary, 4; COQ10D4; SCAR9; spinocerebellar ataxia, autosomal recessive 9 [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13. [-]
primary coenzyme Q10 deficiency 5	coenzyme Q10 deficiency, primary, 5; COQ10D5; ence.. [+] coenzyme Q10 deficiency, primary, 5; COQ10D5; encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. [-]
primary coenzyme Q10 deficiency 6	coenzyme Q10 deficiency, primary, 6; COQ10D6; fami.. [+] coenzyme Q10 deficiency, primary, 6; COQ10D6; familial steroid-resistant nephrotic syndrome with sensorineural deafness [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. [-]
primary coenzyme Q10 deficiency 7	coenzyme Q10 deficiency, primary, 7; COQ10D7; COQ4.. [+] coenzyme Q10 deficiency, primary, 7; COQ10D7; COQ4-related neonatal encephalomyopathy; neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome [-]	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. [-]
primary coenzyme Q10 deficiency 8	coenzyme Q10 deficiency, primary, 8; COQ10D8	A primary coenzyme Q10 deficiency that has_materia..[+] A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3. [-]
primary autosomal recessive microcephaly	MCPH	A primary microcephaly characterized by microcepha..[+] A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation. [-]
post-cardiac arrest syndrome	post cardiac syndrome	A syndrome that is characterized by four main comp..[+] A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies. [-]
primary biliary cholangitis 1	PBC1; BILIARY CIRRHOSIS, PRIMARY, 1	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation at the IL12A locus on chromosome 3q25.33. [-]
primary biliary cholangitis 2	PBC2; BILIARY CIRRHOSIS, PRIMARY, 2	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3. [-]

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