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Disease	Synonyms	Description	Articles	Phenotypes
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 15	MCPH15; NEDMISBA; neurodevelopmental disorder with.. [+] MCPH15; NEDMISBA; neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities [-]	A primary autosomal recessive microcephaly charact..[+] A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34. [-]
primary autosomal recessive microcephaly 7	MCPH7	A primary autosomal recessive microcephaly that ha..[+] A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33. [-]
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 19	MCPH19	A primary autosomal recessive microcephaly that ha..[+] A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23. [-]
primary autosomal recessive microcephaly 8	MCPH8	A primary autosomal recessive microcephaly that ha..[+] A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q. [-]
primary autosomal recessive microcephaly 13	MCPH13	A primary autosomal recessive microcephaly that ha..[+] A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24. [-]
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 1	MCPH1	A primary autosomal recessive microcephaly that ha..[+] A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23. [-]
primary autosomal recessive microcephaly 3	MCPH3	A primary autosomal recessive microcephaly that ha..[+] A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33. [-]
primary autosomal recessive microcephaly 11	MCPH11	A primary autosomal recessive microcephaly that ha..[+] A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13. [-]
primary autosomal recessive microcephaly 17	MCPH17	A primary autosomal recessive microcephaly that ha..[+] A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24. [-]
primary autosomal recessive microcephaly 16	MCPH16	A primary autosomal recessive microcephaly that ha..[+] A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24. [-]
primary autosomal recessive microcephaly 6	MCPH6	A primary autosomal recessive microcephaly that ha..[+] A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12. [-]
primary autosomal recessive microcephaly 4	MCPH4	A primary autosomal recessive microcephaly that ha..[+] A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15. [-]
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 2 with or without cortical malformations	MCPH2	A primary autosomal recessive microcephaly that ha..[+] A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13. [-]
primary autosomal recessive microcephaly 10	MCPH10	A primary autosomal recessive microcephaly that ha..[+] A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13. [-]
primary autosomal dominant microcephaly 18	MCPH18	A primary microcephaly that has_material_basis_in ..[+] A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21. [-]
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. [-]
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. [-]
primary biliary cholangitis 4	PBC4; BILIARY CIRRHOSIS, PRIMARY, 4	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation near the IRF5-TNPO3 locus on chromosome 7q32. [-]
primary biliary cholangitis 5	PBC5; BILIARY CIRRHOSIS, PRIMARY, 5	A primary biliary cholangitis that has_material_ba..[+] A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21. [-]
progressive leukoencephalopathy with ovarian failure	ovarioleukodystrophy	An leukodystrophy characterized by loss of motor a..[+] An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21. [-]
paroxysmal nonkinesigenic dyskinesia 3	generalized epilepsy and paroxysmal dyskinesia	A dystonia characterized by epilepsy and attacks o..[+] A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22. [-]
Parkinson's disease 25	PARK25; autosomal recessive early-onset Parkinson .. [+] PARK25; autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development [-]	An early-onset Parkinson's disease characterized b..[+] An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11. [-]
polyhydramnios, megalencephaly, and symptomatic epilepsy	Pretzel syndrome; PMSE syndrome; PMSE	A syndrome characterized by polyhydramnios, distin..[+] A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3. [-]
peeling skin syndrome 1	peeling skin syndrome type B; PSS1; generalized in.. [+] PSS1; peeling skin syndrome type B; generalized inflammatory peeling skin syndrome; inflammatory peeling skin syndrome [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33. [-]
peeling skin syndrome 2	PSS2; acral peeling skin syndrome; APSS; localized.. [+] PSS2; acral peeling skin syndrome; APSS; localized peeling skin syndrome [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2. [-]
peeling skin syndrome 3	PSS3; peeling skin syndrome type A	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the CHST8 gene on chromosome 19q13.11. [-]
peeling skin syndrome 4	PSS4; AREI; autosomal recessive exfoliative ichthy.. [+] PSS4; AREI; autosomal recessive exfoliative ichthyosis; exfoliative ichthyosis; ichthyosis bullosa of Siemens-like; ichthyosis exfoliativa [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1. [-]
peeling skin syndrome 5	PSS5; autosomal recessive exfoliative ichthyosis; .. [+] PSS5; autosomal recessive exfoliative ichthyosis; exfoliative ichthyosis; ichthyosis exfoliativa [-]	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1. [-]
peeling skin syndrome 6	PSS6; peeling skin syndrome type A	A peeling skin syndrome that has_material_basis_in..[+] A peeling skin syndrome that has_material_basis_in homozygous mutation in the FLG2 gene on chromosome 1q21.3. [-]
PLACK syndrome	peeling skin with leukonychia, acral punctate kera.. [+] peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads [-]	An skin disease characterized by peeling skin in a..[+] An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15. [-]
physical disorder	congenital 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. [-]	160 articles	304 matches
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. [-]
PHARC syndrome	polyneyropathy, hearing loss, ataxia, retinitis pi.. [+] polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract [-]	A syndrome that is characterized by polyneuropathy..[+] A syndrome 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. [-]

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