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Disease	Synonyms	Description
posterior amorphous corneal dystrophy	PACD	n_a
posterior polymorphous corneal dystrophy	PPCD; hereditary polymorphus posterior corneal dys.. [+] PPCD; hereditary polymorphus posterior corneal dystrophy; Schlichting dystrophy [-]	A corneal dystrophy that is characterised by chang..[+] A corneal dystrophy that is characterised 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 (epilepsy), and distinctive facial features. It 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		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. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13. [-]
permanent neonatal diabetes mellitus	permanent diabetes mellitus of infancy; PNDM; PDMI.. [+] PNDM; permanent diabetes mellitus of infancy; PDMI [-]	A neonatal diabetes mellitus that has_material_bas..[+] A neonatal diabetes mellitus 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. [-]
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	An inherited blood coagulation disease characteriz..[+] An inherited blood coagulation 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; genetic defect in thyroid hormonogenesis 2B; goiter-deafness syndrome; TDH2B; thyroid dyshormonogenesis 2B [-]	An autosomal recessive disease characterized by bi..[+] An autosomal recessive disease 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. [-]
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	An autosomal recessive disease characterized by ne..[+] An autosomal recessive disease 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 on chromosome 3p21. [-]
Potocki-Luspski 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	Martinique crinkled retinal pigment epitheliopathy.. [+] Martinique crinkled retinal pigment epitheliopathy; MDPT3 [-]	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. [-]
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 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. [-]
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 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. [-]
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 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 autosomal recessive microcephaly 14	MCPH14	A primary autosomal recessive microcephaly that ha..[+] A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21. [-]
primary autosomal recessive microcephaly 5	MCPH5	A primary autosomal recessive microcephaly that ha..[+] A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31. [-]
primary autosomal recessive microcephaly 12	MCPH12	A primary autosomal recessive microcephaly that ha..[+] A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21. [-]
primary autosomal recessive microcephaly 9	MCPH9	A primary autosomal recessive microcephaly that ha..[+] A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. [-]
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 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. [-]
primary biliary cholangitis 3	PBC3; BILIARY CIRRHOSIS, PRIMARY, 3	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2. [-]
physical disorder		A disease that has_material_basis_in a genetic abn..[+] A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. [-]
pycnodysostosis		An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. [-]
pseudoachondroplasia	pseudoachondroplastic dysplasia; PSEUDOACHONDROPLA.. [+] pseudoachondroplastic dysplasia; PSEUDOACHONDROPLASIA; SPONDYLOEPIPHYSEAL DYSPLASIA, PSEUDOACHONDROPLASTIC [-]	An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. [-]
pseudo-Hurler polydystrophy	mucolipidosis III	n_a
PHARC syndrome	polyneyropathy, hearing loss, ataxia, retinitis pi.. [+] polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [-]	An autosomal recessive disease that is characteriz..[+] An autosomal recessive disease that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. [-]
PTEN hamartoma tumor syndrome		A syndrome characterized as a spectrum of disorder..[+] A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene. [-]
Peters plus syndrome	Peters-plus syndrome; Peters anomaly-short limb dw.. [+] Peters-plus syndrome; Peters anomaly-short limb dwarfism syndrome; Krause-Kivlin syndrome [-]	A syndrome that is characterized by anterior chamb..[+] A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability. [-]
polycystic kidney disease 4		A autosomal recessive polycystic kidney disease th..[+] A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene. [-]
peripheral nervous system benign neoplasm		A central nervous system benign neoplasm the is lo..[+] A central nervous system benign neoplasm the is located_in the peripheral nervous system. [-]

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