- Leontiasis Ossea Wikipedia
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Deafness, Autosomal Dominant 51
Omim
INHERITANCE - Autosomal dominant HEAD & NECK Ears - Hearing loss, age-related MISCELLANEOUS - Onset in the fourth decade - Progressive disorder MOLECULAR BASIS - Contiguous gene syndrome caused by duplication (269kb) on 9q21.11 including the tight junction protein 2 (TJP2, 607709 ) gene and the family with sequence similarity 189, member A2 (FAM189A2, 607710 ) gene ▲ Close
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Ascaris Lumbricoides Infection, Susceptibility To
Omim
Description More than a quarter of the human population is affected by soil-transmitted helminthes, which impair nutrition and the immune response to widespread pandemics, such as acquired immunodeficiency syndrome (see 609423) and tuberculosis (see 607948).
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Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Omim
No characteristic microorganisms had been identified in association with the syndrome. Clinical manifestations ceased in the second decade, but the abnormal jejunal histologic pattern persisted into adult life.
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Oncocytoma
Omim
On dermatologic examination by Toro et al. (1999), 13 members of 3 of these families were found to have cutaneous lesions of Birt-Hogg-Dube syndrome (135150). Mapping Using 5 restriction endonucleases, Welter et al. (1989) performed mitochondrial DNA analysis of 6 renal cell oncocytomas and adjacent renal tissue.KRT7, PVALB, ND6, CLDN8, CLDN7, KIT, S100A1, TP53, MIR200B, MIR498, VIM, MIR221, TFEB, MIR210, CDH16, H4C13, H4C11, REXO1, LMO3, KRT20, BHD, SCG3, AMACR, H4C3, H4C5, H4C8, HYAL4, H4C2, PPRC1, RASSF1, WDHD1, AP1M2, DERL1, H4C14, FNIP2, AKT1S1, CDC73, TMPRSS13, H4C15, MIR31, MIR222, MIR21, MIR205, MIR200C, MIR183, MIR155, MIR141, MIR139, MIR126, MIR10B, C17orf97, FLCN, PROM2, ZFP42, H4-16, MAL2, PRRT2, EGLN2, FNIP1, LMLN, H4C6, H4C12, SLC25A5, H4C4, GAS6, LDHA, CD82, IGFBP5, IGFBP3, IGF1, HOXA9, HMMR, HCK, NR3C1, GATA3, FOLH1, KITLG, FGFR1, ESR1, DES, CDR2, CDH1, CD44, CD9, CAV1, CASP3, BRAF, MCM2, MITF, H4C1, SAG, H4C9, CCND1, VHL, VCAM1, TSHR, TFE3, SOX10, SLC2A4, SLC2A2, SLC2A1, BRD2, MSMB, PTGS2, PRSS8, KLK7, PRL, PRKCB, PRKCA, POMC, POLR2A, PAX2, MST1, BSND
- Immunodeficiency Without Anhidrotic Ectodermal Dysplasia Omim
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Carcinoma Of Esophagus
Orphanet
EAC has also been associated with obesity, in particular visceral obesity and metabolic syndromes which are more common in men than in women.CDKN2A, EGFR, PTGS2, WWOX, TP53, LZTS1, DCC, RNF6, TGFBR2, ADH1B, ALDH2, CASP8, MIR21, ERBB2, BCL2, CCND1, MIR145, ABCB1, XIAP, PRDX1, RUNX3, MET, LGALS3, PRDX2, SOX2, MMP14, KDR, XRCC3, BAX, SOD2, SERPINB3, MIR200C, TPM1, CDH13, MLH3, NR1I2, WIF1, CXCL2, ABL1, ACTB, ZNF667-AS1, MARCHF8, ALOX15, SFN, MIR98, PTGS1, GAPDH, GNG7, TNFRSF10A, CCNH, UCHL1, TPM4, GRIK2, CYP19A1, CYP26A1, PHB, MAP3K3, TGM2, MT1G, SST, CSF3, NOS2, CRYAB, SNAI2, NOS3, TUFM, ENO1, AKAP13, SMYD2, SLC30A7, MACIR, BCL2A1, AQP3, RPRM, TRMT11, GHRL, BBC3, ADH7, MYC, IL5, CXCL1, MXI1, HMOX1, CTNNA1, PLCE1, STK11, MUC1, RHBDF2, SLC52A3, HLA-A, RUNX1, SLC39A6, ADH4, CHEK2, PCAT1, ERCC1, FKBP1A, MGMT, FLACC1, PEBP4, TMC1, MTHFR, LINC01504, MTAP, CCDC63, DGKH, GSTM1, SDCBP2-AS1, TSPAN11, STEAP1B, MCC, HECTD4, KIT, TEX41, IL6, LINC01405, OCA2, PLCE1-AS1, SLC25A24P1, GSTT1, GSTP1, JAZF1, PIK3CD, PDE4D, TBL2, TFDP1, HEATR3, SEMA5B, TNF, TRPC4, CD274, XBP1, ZFAND5, STAT3, CUBN, SMUG1, IL18R1, PES1, SMG6, KANK1, IKZF3, ABCC8, SREBF2, PDGFRA, PTPN2, SGF29, PIK3CA, PIK3CB, PIK3CG, MAPK1, PTEN, AGBL4, SPINK7, ACAD10, ST6GAL2, SDHA, SDHB, SDHC, ST6GAL1, FAM167A-AS1, FAM167A, VEGFA, H3P10, CYP2E1, AKT1, CDH17, AMPH, CLN3, CRP, CSNK1A1, CTNNB1, AHR, CYP1A1, CALR, CALCR, MDM2, CEACAM5, SLC6A8, HIF1A, TGFB1, NQO1, MIR203A, COX2, EGF, EPHX1, CDKN1A, APC, XRCC1, IGF1, VEGFC, AKR1A1, EPHB2, FHIT, PRM3, MIR34A, RAD51, RARB, IL10, UCA1, TERT, MIR375, IGF2, MMP2, TP73, MTCO2P12, GLI1, CXCR4, PPARG, CCK, EPCAM, MMP7, BMI1, IGFBP3, PCNA, RASSF1, HPSE, OGG1, DNMT1, TMPRSS11A, HPGDS, ECRG4, YAP1, SLC12A9, CDH1, TWIST1, BSG, NAT2, FGF2, EZH2, EGR1, DPYD, IGF1R, ARHGAP24, E2F1, CDK2, MMP9, AURKA, MALAT1, PDCD4, COMMD3-BMI1, BRCA2, FAS, IL1B, MIR93, MIR143, IL18, CDKN2B, TLR4, CKAP4, S100A4, MAPK3, KRAS, FOXA1, PDPK1, ERCC2, ALB, TP63, TNFSF10, ALDH1A1, IFNG, SOX4, PROX1, BHLHE40, CTAG1A, IL1RN, CST3, SOX17, CXCL8, AVP, TYMS, SLCO6A1, CTAG1B, IDO1, VDR, GSTK1, CASP3, BAGE4, PRKCI, CTTN, MIR141, CASC9, PDK1, GNAS, ATAD1, AR, LATS2, MIR139, ADH1C, LOXL2, CDK4, ZNRD1, MIR10B, DELEC1, PLCL1, ABCG2, HMGB1, CYP2A6, LINC01194, MIR214, TERC, CDKN1B, MIR155, ORAI1, PLK1, CXCL12, SERPINB4, CEACAM3, F2RL1, BIRC5, FOXQ1, NKD2, SKIL, CDKN3, SKP2, FASLG, CCNB1, IL27, IL23R, PRKAA2, LGMN, MIRLET7C, MIR100, MIR107, PRKCA, PRKAB1, PRKAA1, PSMB8, POU5F1, POLR2E, POLB, PLAU, MIR144, PKM, PSG2, PTK2, PAQR3, CEACAM7, ANXA2, RPS6KB1, ANXA1, ANGPT1, RPE65, DACT2, RNF2, PTK7, REG1A, RBBP6, RB1, FAP, RARA, SLC39A5, HAVCR2, CDC34, SOX9, ZEB2, CTAG2, CRNN, GEMIN4, CLOCK, KLF4, PTTG1, MTA1, BCL2L1, IL17D, HSPB3, BAG1, SPHK1, RUNX2, KAT2B, PROM1, CCN4, UGT1A1, IST1, BRCA1, SPP1, NXT1, NLRP1, RIPK3, DKK1, RAB40B, SUB1, TBC1D9, ENG, SIRT1, MRPL28, SNHG1, NDRG1, TUBB3, PSMD14, BUB1B, UBE2S, CHAF1A, FRAT1, ERBB4, TNFRSF10B, FEV, LY6K, ANKRD36B, EIF4EBP1, GAS5, TTK, TRAF6, BHLHE41, TP53BP1, CDC25B, TNFAIP3, ZC3H12A, TGM3, PDCD1LG2, CLPTM1L, EIF4E, CDK6, AFAP1-AS1, SRC, UNG, UVRAG, CD38, FERMT1, AXL, ZNF654, FBXW7, AXIN2, MEG3, ADAM12, TUSC3, TENM3, WNT1, MYDGF, DIABLO, XRCC4, EYA4, XK, CD34, TP73-AS1, PIN1, SATB1, MIR146A, MIR29C, IL17A, CXCL10, IRF2, MIR148A, JUN, JUNB, JUND, POU5F1P4, POU5F1P3, KRT16, MIR483, MIR193B, SMAD4, MIR451A, MAGEA3, MAL, CTSB, MDK, MKI67, MLH1, MIR377, ABCC1, MSH2, FGF13, MIR301A, MIR576, IL12B, CXCR2, HGF, H3P9, GJB2, GML, GRB7, CCAT2, FALEC, GSN, GSTM2, GSTM3, H2AX, HDAC1, MTOR, IL2, UBE2K, ADAMTS9-AS2, CD24, HRAS, HSPB1, HSPB2, HSP90AA1, HOTAIR, FOSB, FOS, IL1A, MAPK14, SNORD116@, CASP10, MIR199A1, MIR199A2, MIR183, PEBP1, ODC1, NQO2, CRYZ, FGF7, NRDC, MIR27A, FBXL19, UGT1A8, MIR200A, GAEC1, DLL4, AKT2, MIR20A, MIR873, MARCHF5, OTUD4, MIR122, MIR543, CRCT1, KRT20, TLR9, PARP1, SIRT6, NT5C3A, SLC25A37, DACT1, LINC00184, CHST15, ZMYND10, UBR5, IL23A, SYCE1L, MIR1294, ELK1, MIR126, SPA17, ADAR, XAF1, NANS, TDRG1, FBLIM1, NBAT1, CT47A4, SAGE1, SOX6, MIR206, OTUB1, DSG3, CT47A5, MFN1, CT47A6, CHFR, ACSS2, CT47A8, ERBIN, CT47A9, STK31, CT47A10, MIR210, BDH2, ZNF331, TMEM176A, HULC, LAPTM4B, ACP6, TRIM44, RNF111, SYTL2, MAGED4, TUG1, CT47A1, MIR204, SLC52A1, ANO1, SBNO1, NAT10, QRSL1, MIR205, CT47A2, CHDH, CT47A3, IGF2-AS, LINC01234, PANTR1, BNIP3, CSAG2, SEMA3B-AS1, LINC01617, KCNH4, SLC44A1, ANGPTL2, SLC25A20, SEC14L2, PADI4, CA2, MIR186, PLA2G15, TMEFF2, C4BPA, LINC-ROR, MIR187, PRDX5, MPRIP, CERNA3, PEG10, SBNO2, OIP5, RRAS2, CASP1, PUF60, H3P17, ZHX2, MIR150, MMRN1, MIR16-2, RAB3GAP1, MIR152, TPX2, TPM1-AS, DNMT3B, KDM1A, SMG1, RNF19A, MTHFD1L, POLDIP2, IL22, MIR197, PSAT1, CT47A12, MIR129-2, MIR198, STOML2, MIR127, CYHR1, MIR140, CCAT1, DDX11-AS1, F11R, FOXP3, NDUFA13, LEF1, ATP6V0C, HOOK2, ACTA2, ZBTB20, EMP3, RGS22, PHGDH, NKX2-8, ABO, DNM3OS, MIR550A3, PABPC1, LAMP3, DROSHA, MIR192, IL37, RPL17-C18orf32, EMP1, MIR196A1, MIR196A2, ACACA, C1GALT1, MIR296, ELANE, RHOXF2, MIR423, TSPAN18, EMILIN3, ABCB5, DHCR24, WDR20, MIR382, FFAR4, MTDH, SCGB3A1, NAF1, MIR361, PRRT2, MIR374A, MIR373, FBXO32, APEX1, TSLP, DUXAP8, BAGE3, PWAR4, MIR494, ARG1, MIR202, MIR146B, ACCS, CCDC54, MIR491, RIOX2, DUXAP10, SOX2-OT, MIR433, VSIG1, AQP4, MIR20B, MIR363, SNHG7, MIR372, KLF17, OSR1, JMJD1C, ZFP82, ATN1, MIR96, ADAMTS16, MIR34B, DSC2, MIR31, ALOX15B, CBLL2, FOXK1, MIR30E, MIR30B, MIR302A, CT47A11, ALOX5, MIR24-1, MIR17HG, LRATD2, EPHA2, LINC00261, KCNH8, MIR340, CKS1BP7, CTCFL, TMED10P1, RPL34-AS1, MIR339, OR2AG1, AGER, DACT3, ANXA7, MIR338, PDIK1L, MIR335, MIR326, MIR302B, LINC-PINT, MIR498, CRISP1, MIR499A, USP28, KIAA1522, MIR574, SUGP1, MIR556, IL21, RERE, ZNF667, MIR219A1, GOLPH3, MIR542, MIR539, GORASP1, CDCP1, MARCKSL1, RSRC2, VLDLR-AS1, MIR212, KLHL1, MIB1, SLC44A2, ADAMTS9, IS1, ACKR3, MIR655, AKR1B10, MIRLET7G, CYSLTR2, MIR625, POTEG, MIR601, DANCR, S100A14, NDRG2, TENM2, INTS2, MIR593, WNK1, TRPM8, FSD1, MIR506, MIR487A, ZFHX3, MIR486-1, MAGED4B, NECTIN4, TSC22D4, MIR224, MIR502, ALPK1, ARSA, ARNTL, CRISPLD2, USP26, FSD1L, PHF6, SARNP, WNT10A, RNF34, ALCAM, VTCN1, MUL1, CT47A7, FAT4, DPP4, MIR221, ATM, NEIL1, LIN28A, CSAG3, FBXO31, RASSF10, NANOG, WLS, GRHL2, NAA25, C17orf97, SSX2B, XRCC6, CAV1, PDHA1, CDK14, PGD, PGF, COL11A2, COL6A3, CNTN1, CNR1, PIM1, ABCC2, LTB4R, PLA2G2A, PLG, PRRX1, PON3, POR, POU2F1, POU5F1B, PPL, PRKCB, CCR5, MAPK8, MAP2K1, MAP2K3, PECAM1, PDGFRB, MAP2K7, CLDN4, TRIM37, CSF2, MYD88, GADD45B, NF2, NGF, NOTCH1, NPAS2, CRMP1, FGF4, SLC22A18, CRK, PAH, SERPINE1, PRKN, PAWR, PAX2, PBX1, FGF3, PCYT1A, PDCD1, PDE4A, CREB1, MAP2K6, EIF2AK2, FGF12, RMRP, RPA1, RPL15, RPL17, RPL34, RPN2, RRAD, RRAS, S100A9, SAFB, SALL2, SAI1, TSPAN31, SAT1, CCL1, CCL2, CCL11, CCL15, CCL18, CCL20, CXCL11, CFTR, CEBPB, F3, ABCE1, RIT1, HTRA1, RELB, KLK10, PSMB9, PSMD4, PTCH1, FEN1, CKS1B, CHRNA3, CHGA, PTPN6, PVT1, RAC1, RAC3, RAD9A, RAD23B, FASN, RAF1, RAP1A, RARRES2, RBL2, RBM3, RBM4, RBP2, RELA, MUC4, MTR, DDX5, FOXA2, HOXA1, HOXA9, HOXA13, HOXD13, HP, HPGD, ERAS, HSPG2, ICAM1, ICAM2, ICAM3, ID1, IFNB1, IFNGR1, IGFBP1, FLT1, CCN1, IL3, CYP1B1, FLNB, IL7R, IL9, FOXO1, FOXA3, HLA-G, IL12A, HLA-DRB1, GAS6, GJA1, G6PD, GLI2, GNA12, DCK, DAPK1, GPR39, GRN, DAP, NR3C1, DACH1, DAB2, GRP, GSK3B, GSR, CYP24A1, FZD2, CYP2C9, HDGF, CYP2C19, HLA-DOA, HLA-DQA1, IL11, IL12RB1, MTTP, MCM7, FOXC1, CTNNA2, MFGE8, CCN2, MAP3K11, MMP1, ACE, FGFR4, MMP10, MMP13, CTBP2, MPO, MSH3, MSI1, MST1, MT1E, MT2A, MT3, CSTA, CYTB, MTHFD1, ND4, ND5, FOXC2, SMAD7, IL13, SMAD5, IL15, IL15RA, PDX1, ITGA6, IVL, JAK1, JAK2, CYLD, CXADR, KRT1, KRT7, KRT10, KRT19, STMN1, CTSL, LGALS9, LLGL2, LLGL1, LMX1B, LOX, TM4SF1, FOXM1, MAD2L1, SEL1L, SHH, SHMT2, F2RL3, GPRC5A, PIAS2, CLDN1, CCNE2, DCLK1, AURKB, NOLC1, RAB11B, IL32, NOG, MSC, UBE2L6, DCN, GRAP2, MAP4K4, MAGED1, PTGES, CHD1L, AKAP12, ISG15, MDC1, PCLAF, RASSF2, MAP3K14, LIMD1, BMS1, BCL10, LTBP4, RECK, CUL4A, CUL2, PPM1D, IFITM1, STC2, USO1, AKR1C3, BECN1, URI1, RIPK1, TNFRSF14, TNFRSF6B, TNFRSF11A, SCEL, GADD45A, BANF1, NRP1, CCN5, HDAC3, CDK5R1, PER2, EIF4A3, MAML1, CDX2, NXF1, ARL6IP5, AHSA1, TXNIP, PDPN, POSTN, CELF1, PTGES3, HSPH1, EPHA3, JTB, GADD45G, FASTK, BTG3, MLLT11, TMED10, FERMT2, KCNQ1OT1, SPINK5, IL24, CNMD, CD160, FSTL1, CAV2, CIB1, DDIT3, SPATA2, RAPGEF3, FARP2, RBX1, HDAC6, PDCD6, PARP2, DNAJB6, ABCB6, DNM1L, TSPAN1, ARL4C, TRAP1, ARFRP1, G3BP1, GDF11, TRIB1, MSLN, AKAP8, BCAS2, APC2, PAK4, TNIP1, ERBB3, RACK1, FZD7, BAP1, AXIN1, TCF4, ZEB1, TCF21, TRBV20OR9-2, TDO2, TERF1, EVPL, CDH3, TGFA, ETV1, TGFBI, TGFBR1, ETS1, CDC42, THRB, THY1, TIMP1, TIMP2, TLE2, TSPAN7, TSPAN8, TM7SF2, TMPO, TMSB4X, TCF7L2, TAP1, TAM, TAGLN, SIX1, SIX3, SLC1A5, SLC3A2, SLC11A1, SLC22A1, SMARCA2, SMARCA4, SIGLEC1, SNAI1, SNCA, SNCG, FSCN1, SOAT1, CDKN1C, SPRR3, SSR1, F2R, SSX2, STAT1, STC1, SULT1A1, SYT1, TOP1, ERCC5, CDC25A, TPM2, WRN, XIST, XPC, CD80, XRCC5, YES1, YES1P1, PCGF2, ZBTB17, ZNF208, CD3E, PRDM2, IL1R2, MANF, USP7, ST8SIA4, AIMP2, TFPI2, CCNG2, HMGA2, SLC7A5, MIA, NRIP1, WNT2B, WNT10B, VRK1, CD59, CDC20, TPT1, TRH, CD63, TRPC6, TSC1, ABCA4, ERCC4, UBE2D3, UBE2E2, UCP1, VIM, SLC35A2, UGT1A, UGT2B4, UMOD, UMPS, USP4, NR1H2, ERCC3, VHL, EZR, MAPKAPK2
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Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Orphanet
Differential diagnosis Differential diagnoses includes Turner syndrome. Genetic counseling The pattern of inheritance is X-linked and genetic counseling should be offered to affected families.
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Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Omim
Clinical Features Divry and Van Bogaert (1946) described brothers who presented with epilepsy, pseudobulbar syndrome, extrapyramidal signs, dementia, hemianopsia, and 'marbled skin' resulting from a telangiectatic network.
- Heinz Body Anemias Omim
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Sodoku
Wikipedia
. ^ http://outbreaknewstoday.com/rat-bite-fever-s-california-girl-recovering-contracted-rat-saliva-19054/ External links [ edit ] Classification D ICD - 10 : A25.0 ICD - 9-CM : 026.0 MeSH : D011906 DiseasesDB : 32803 External resources MedlinePlus : 001348 v t e Bacterial diseases due to gram negative non- proteobacteria ( BV4 ) Spirochaete Spirochaetaceae Treponema Treponema pallidum Syphilis / bejel Yaws Treponema carateum ( Pinta ) Treponema denticola Borrelia Borrelia burgdorferi / Borrelia afzelii Lyme disease Erythema migrans Neuroborreliosis Borrelia recurrentis ( Louse borne relapsing fever ) Borrelia hermsii / Borrelia duttoni / Borrelia parkeri ( Tick borne relapsing fever ) Leptospiraceae Leptospira Leptospira interrogans ( Leptospirosis ) Chlamydiaceae Chlamydia Chlamydia psittaci ( Psittacosis ) Chlamydia pneumoniae Chlamydia trachomatis Chlamydia Lymphogranuloma venereum Trachoma Bacteroidetes Bacteroides fragilis Tannerella forsythia Capnocytophaga canimorsus Porphyromonas gingivalis Prevotella intermedia Fusobacteria Fusobacterium necrophorum ( Lemierre's syndrome ) Fusobacterium nucleatum Fusobacterium polymorphum Streptobacillus moniliformis ( Rat-bite fever / Haverhill fever )
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Subacute Inflammatory Demyelinating Polyneuropathy
Orphanet
SIDP is an intermediate form between Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP; see these terms).
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Ventricular Dyssynchrony
Wikipedia
Diagnosis [ edit ] Echocardiography and tissue Doppler echocardiography are both needed to fully diagnose the different types of ventricular dyssynchrony. [2] Treatment [ edit ] Recent studies suggest that cardiac resynchronization therapy can reduce the incidence of ventricular dyssynchrony and thus increase cardiac efficiency. [1] [3] See also [ edit ] Bundle branch block Ejection fraction Pacemaker syndrome Speckle tracking echocardiography Transthoracic echocardiogram References [ edit ] ^ a b c Nagueh, MD, Sherif F. (2008).
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Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Orphanet
Differential diagnosis Differential diagnoses include ATP synthase deficiency due to ATPAF2 mutation and other ATP synthase disorders including NARP/MILS syndrome (see this term). Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency should be considered in critically ill neonates, especially in those with early onset of hypotonia and hypertrophic cardiomyopathy accompanied with lactic acidosis and/or hyperammonemia.
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Autosomal Recessive Sideroblastic Anemia
Orphanet
Congenital autosomal recessive sideroblastic anemia (ARSA) is a non-syndromic, microcytic/hypochromic sideroblastic anemia, present from early infancy and characterized by severe microcytic anemia, which is not pyridoxine responsive, and increased serum ferritin.
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Angel-Shaped Phalango-Epiphyseal Dysplasia
Orphanet
Differential diagnosis The main clinical differential diagnosis is Brachydactyly type C (see this term), which is also associated with a GDF5 mutation, suggesting that both syndromes may be part of the same clinical spectrum.
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Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Omim
Clinical Features Barel et al. (2008) reported a large consanguineous Israeli Bedouin kindred in which 25 individuals had an autosomal recessive syndrome comprising severe psychomotor retardation and extrapyramidal signs.
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Autosomal Dominant Cerebellar Ataxia Type Iii
Orphanet
A group of neurodegenerative disorders characterized by mostly pure cerebellar syndromes with occasional non-cerebellar signs (e.g. pyramidal signs, peripheral neuropathy, writer's cramp) and includes spinocerebellar ataxia (SCA) type 5 (SCA5), SCA6, SCA11, SCA26, SCA30, and SCA31.
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Chondroid Lipoma
Wikipedia
External links [ edit ] Classification D ICD-O : 8862/0 v t e Connective / soft tissue tumors and sarcomas Not otherwise specified Soft-tissue sarcoma Desmoplastic small-round-cell tumor Connective tissue neoplasm Fibromatous Fibroma / fibrosarcoma : Dermatofibrosarcoma protuberans Desmoplastic fibroma Fibroma / fibromatosis : Aggressive infantile fibromatosis Aponeurotic fibroma Collagenous fibroma Diffuse infantile fibromatosis Familial myxovascular fibromas Fibroma of tendon sheath Fibromatosis colli Infantile digital fibromatosis Juvenile hyaline fibromatosis Plantar fibromatosis Pleomorphic fibroma Oral submucous fibrosis Histiocytoma / histiocytic sarcoma : Benign fibrous histiocytoma Malignant fibrous histiocytoma Atypical fibroxanthoma Solitary fibrous tumor Myxomatous Myxoma / myxosarcoma Cutaneous myxoma Superficial acral fibromyxoma Angiomyxoma Ossifying fibromyxoid tumour Fibroepithelial Brenner tumour Fibroadenoma Phyllodes tumor Synovial -like Synovial sarcoma Clear-cell sarcoma Lipomatous Lipoma / liposarcoma Myelolipoma Myxoid liposarcoma PEComa Angiomyolipoma Chondroid lipoma Intradermal spindle cell lipoma Pleomorphic lipoma Lipoblastomatosis Spindle cell lipoma Hibernoma Myomatous general: Myoma / myosarcoma smooth muscle : Leiomyoma / leiomyosarcoma skeletal muscle : Rhabdomyoma / rhabdomyosarcoma : Embryonal rhabdomyosarcoma Sarcoma botryoides Alveolar rhabdomyosarcoma Leiomyoma Angioleiomyoma Angiolipoleiomyoma Genital leiomyoma Leiomyosarcoma Multiple cutaneous and uterine leiomyomatosis syndrome Multiple cutaneous leiomyoma Neural fibrolipoma Solitary cutaneous leiomyoma STUMP Complex mixed and stromal Adenomyoma Pleomorphic adenoma Mixed Müllerian tumor Mesoblastic nephroma Wilms' tumor Malignant rhabdoid tumour Clear-cell sarcoma of the kidney Hepatoblastoma Pancreatoblastoma Carcinosarcoma Mesothelial Mesothelioma Adenomatoid tumor This Dermal and subcutaneous growths article is a stub .
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Deafness, Autosomal Dominant 23
Omim
The patient was also found to have a solitary left hypodysplastic kidney with vesicoureteral reflux and progressive renal failure, suggesting that this family may have BOR/BO syndrome (see 608389). In affected members of a Tunisian family with autosomal dominant nonsyndromic hearing impairment showing linkage to 14q23, Ali Mosrati et al. (2011) identified a heterozygous missense mutation in the SIX1 gene (601205.0005).