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Disease	Synonyms	Description	Articles	Phenotypes
autosomal dominant nonsyndromic deafness 56	autosomal dominant deafness 56; DFNA56;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33. [-]
autosomal dominant nonsyndromic deafness 58	autosomal dominant deafness 58; DFNA58;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12. [-]
autosomal dominant nonsyndromic deafness 59	DFNA59; autosomal dominant deafness 59;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3. [-]
autosomal dominant nonsyndromic deafness 6	autosomal dominant deafness 14; autosomal dominant.. [+] autosomal dominant deafness 14; autosomal dominant deafness 38; autosomal dominant deafness 6; DFNA38; DFNA6; DFNA14; [-]	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16. [-]
autosomal dominant nonsyndromic deafness 64	DFNA64; autosomal dominant deafness 64;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24. [-]
autosomal dominant nonsyndromic deafness 65	autosomal dominant deafness 65; DFNA65;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. [-]
autosomal dominant nonsyndromic deafness 66	DFNA66; autosomal dominant deafness 66;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21. [-]
autosomal dominant nonsyndromic deafness 67	autosomal dominant deafness 67; DFNA67;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13. [-]
autosomal dominant nonsyndromic deafness 68	DFNA68; autosomal dominant deafness 68;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25. [-]
autosomal dominant nonsyndromic deafness 69	autosomal dominant deafness 69; DFNA69; unilateral.. [+] autosomal dominant deafness 69; DFNA69; unilateral or asymmetric congenital deafness; DCUA; [-]	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21. [-]
autosomal dominant nonsyndromic deafness 7	autosomal dominant deafness 7; DFNA7;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23. [-]
autosomal dominant nonsyndromic deafness 70	autosomal dominant deafness 70; DFNA70;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21. [-]
autosomal dominant nonsyndromic deafness 73		An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21. [-]
autosomal dominant nonsyndromic deafness 74	DFNA74;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3. [-]
autosomal dominant nonsyndromic deafness 75	DFNA75;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1. [-]
autosomal dominant nonsyndromic deafness 76	DFNA76;	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23. [-]
autosomal dominant nonsyndromic deafness 77	DFNA77;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11. [-]
autosomal dominant nonsyndromic deafness 78	DFNA78;	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3. [-]
autosomal dominant nonsyndromic deafness 79	DFNA79;	An autosomal dominant nonsyndromic deafness that h..[+] An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22. [-]
autosomal dominant nonsyndromic deafness 9	DFNA9; autosomal dominant deafness 9;	An autosomal dominant nonsyndromic deafness that i..[+] An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12. [-]
autosomal dominant osteopetrosis 1	autosomal dominant osteopetrosis type 1; OPTA1;	An osteopetrosis characterized by autosomal domina..[+] An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. [-]
autosomal dominant osteopetrosis 2	Albers-Schonberg osteopetrosis; autosomal dominant.. [+] Albers-Schonberg osteopetrosis; autosomal dominant osteopetrosis type II; OPTA2; autosomal dominant Albers-Schonberg disease; osteopetrosis autosomal dominant type 2; [-]	An osteopetrosis characterized by autosomal domina..[+] An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. [-]
autosomal dominant polycystic kidney disease	Congenital biliary ectasias; POLYCYSTIC KIDNEY AND.. [+] Congenital biliary ectasias; POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; ADPKD; [-]	A polycystic kidney disease characterized by the p..[+] A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion. [-]	11 articles
autosomal dominant progressive external ophthalmoplegia 1	PEOA1;	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1. [-]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2	autosomal dominant progressive external ophthalmop.. [+] autosomal dominant progressive external ophthalmoplegia 2; PEOA2; [-]	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1. [-]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3	autosomal dominant progressive external ophthalmop.. [+] autosomal dominant progressive external ophthalmoplegia 3; PEOA3; [-]	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31. [-]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4	autosomal dominant progressive external ophthalmop.. [+] autosomal dominant progressive external ophthalmoplegia 4; PEOA4; [-]	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3. [-]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5	autosomal dominant progressive external ophthalmop.. [+] autosomal dominant progressive external ophthalmoplegia 5; PEOA5; [-]	A chronic progressive external ophthalmoplegia tha..[+] A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3. [-]
autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6	autosomal dominant progressive external ophthalmop.. [+] autosomal dominant progressive external ophthalmoplegia 6; DNA2-related mitochondrial DNA deletion syndrome; mitochondrial DNA deletion syndrome with limb-girdle weakness; mitochondrial DNA deletion syndrome with progressive myopathy; mtDNA deletion syndrome with limb-girdle weakness; mtDNA deletion syndrome with progressive myopathy; PEOA6; [-]	A chronic progressive external ophthalmoplegia cha..[+] A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. [-]
autosomal dominant pseudohypoaldosteronism type 1	autosomal dominant PHA 1; PHA1A;	A pseudohypoaldosteronism characterized by Salt wa..[+] A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. [-]	1 articles
autosomal dominant sensory ataxia 1	ADSA; SNAX1;	A hereditary ataxia characterized by gait difficul..[+] A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8. [-]
autosomal dominant severe congenital neutropenia		A severe congenital neutropenia that has_material_..[+] A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene. [-]
autosomal dominant sideroblastic anemia		A sideroblastic anemia characterized by an autosom..[+] A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. [-]
autosomal dominant spondyloepiphyseal dysplasia tarda		A spondyloepiphyseal dysplasia tarda that has_mate..[+] A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. [-]
autosomal dominant thrombophilia due to protein C deficiency	autosomal dominant PROC deficiency; autosomal domi.. [+] autosomal dominant PROC deficiency; autosomal dominant protein C deficiency; THPH3; [-]	A thrombophilia characterized by reduced serum lev..[+] A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. [-]
autosomal dominant thrombophilia due to protein S deficiency	THPH5;	A protein S deficiency characterized by reduced se..[+] A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1. [-]
autosomal dominant vitreoretinochoroidopathy	vitreoretinochoroidopathy dominant; vitreoretinoch.. [+] vitreoretinochoroidopathy dominant; vitreoretinochoroidopathy, autosomal dominant, with nanophthalmos; VRCP autosomal dominant; ADVIRC; vitreoretinochoroidopathy with microcornea, glaucoma, and cataract; [-]	A hereditary retinal dystrophy characterized by ab..[+] A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3. [-]
autosomal dominant woolly hair	ADWH;	A familial woolly hair syndrome that has_material_..[+] A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in the KRT74 gene on chromosome 12q13.13. [-]
autosomal genetic disease		A monogenic disease that is has material basis in ..[+] A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. [-]	236 articles	134 matches
autosomal hemophilia A	autosomal Factor VIII deficiency;	A blood coagulation disease characterized by autos..[+] A blood coagulation disease characterized by autosomal inheritence of a Factor VIII deficiency. [-]
autosomal recessive Alport syndrome		An Alport syndrome that has_material_basis_in homo..[+] An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q. [-]
autosomal recessive Emery-Dreifuss muscular dystrophy 3	EDMD3; Emery-Dreifuss muscular dystrophy 3, autoso.. [+] EDMD3; Emery-Dreifuss muscular dystrophy 3, autosomal recessive; [-]	An Emery-Dreifuss muscular dystrophy that has_mate..[+] An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. [-]
autosomal recessive Parkinson disease 14		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. [-]
autosomal recessive Robinow syndrome	costovertebral segmentation defect-mesomelia syndr.. [+] costovertebral segmentation defect-mesomelia syndrome; COVESDEM syndrome; RRS; [-]	A Robinow syndrome characterized by autosomal rece..[+] A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. [-]
autosomal recessive Whistling face syndrome		A Freeman-Sheldon syndrome that has autosomal rece..[+] A Freeman-Sheldon syndrome that has autosomal recessive inheritance. [-]
autosomal recessive centronuclear myopathy	AR-CNM;	A centronuclear myopathy that has_material_basis_i..[+] A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance. [-]
autosomal recessive cerebellar ataxia		A cerebellar ataxia that has_material_basis_in aut..[+] A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance. [-]	1 articles
autosomal recessive chronic granulomatous disease 1	autosomal recessive chronic granulomatous disease .. [+] autosomal recessive chronic granulomatous disease cytochrome b-positive type I; CDG1; chronic granulomatous disease due to deficiency of NCF-1; deficiency of NCF1; deficiency of neutrophil cytosol factor 1; deficiency of p47-PHOX; deficiency of SOC2; deficiency of soluble oxidase component II; [-]	A chronic granulomatous disease characterized by a..[+] A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. [-]
autosomal recessive chronic granulomatous disease 2	autosomal recessive chronic granulomatous disease .. [+] autosomal recessive chronic granulomatous disease 2; CDG2; deficiency of NCF2; deficiency of p67-PHOX; chronic granulomatous disease due to deficiency of NCF-2; autosomal recessive chronic granulomatous disease cytochrome b-positive type II; [-]	A chronic granulomatous disease characterized by a..[+] A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. [-]
autosomal recessive chronic granulomatous disease 3	autosomal recessive chronic granulomatous disease .. [+] autosomal recessive chronic granulomatous disease cytochrome b-positive type III; autosomal recessive cytochrome b-positive CGD type III; CDG3; chronic granulomatous disease due to NCF4 deficiency; [-]	A chronic granulomatous disease characterized by t..[+] A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. [-]

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