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Pyogenic Granuloma
Wikipedia
External links [ edit ] Classification D ICD - 10 : L98.0 ICD - 9-CM : 686.1 MeSH : D017789 DiseasesDB : 29385 SNOMED CT : 200722003 External resources MedlinePlus : 001464 eMedicine : ped/1244 v t e Tumours of blood vessels Blood vessel Hemangiosarcoma Blue rubber bleb nevus syndrome Hemangioendothelioma Composite Endovascular papillary Epithelioid Kaposiform Infantile Retiform ) Spindle cell Proliferating angioendotheliomatosis Hemangiopericytoma Venous lake Kaposi's sarcoma African cutaneous African lymphadenopathic AIDS-associated Classic Immunosuppression-associated Hemangioblastoma Hemangioma Capillary Cavernous Glomeruloid Microvenular Targeted hemosiderotic Angioma Cherry Seriginosum Spider Tufted Universal angiomatosis Angiokeratoma of Mibelli Angiolipoma Pyogenic granuloma Lymphatic Lymphangioma / lymphangiosarcoma Lymphangioma circumscriptum Acquired progressive lymphangioma PEComa Lymphangioleiomyomatosis Cystic hygroma Multifocal lymphangioendotheliomatosis Lymphangiomatosis Either Angioma / angiosarcoma Angiofibroma v t e Oral and maxillofacial pathology Lips Cheilitis Actinic Angular Plasma cell Cleft lip Congenital lip pit Eclabium Herpes labialis Macrocheilia Microcheilia Nasolabial cyst Sun poisoning Trumpeter's wart Tongue Ankyloglossia Black hairy tongue Caviar tongue Crenated tongue Cunnilingus tongue Fissured tongue Foliate papillitis Glossitis Geographic tongue Median rhomboid glossitis Transient lingual papillitis Glossoptosis Hypoglossia Lingual thyroid Macroglossia Microglossia Rhabdomyoma Palate Bednar's aphthae Cleft palate High-arched palate Palatal cysts of the newborn Inflammatory papillary hyperplasia Stomatitis nicotina Torus palatinus Oral mucosa – Lining of mouth Amalgam tattoo Angina bullosa haemorrhagica Behçet's disease Bohn's nodules Burning mouth syndrome Candidiasis Condyloma acuminatum Darier's disease Epulis fissuratum Erythema multiforme Erythroplakia Fibroma Giant-cell Focal epithelial hyperplasia Fordyce spots Hairy leukoplakia Hand, foot and mouth disease Hereditary benign intraepithelial dyskeratosis Herpangina Herpes zoster Intraoral dental sinus Leukoedema Leukoplakia Lichen planus Linea alba Lupus erythematosus Melanocytic nevus Melanocytic oral lesion Molluscum contagiosum Morsicatio buccarum Oral cancer Benign: Squamous cell papilloma Keratoacanthoma Malignant: Adenosquamous carcinoma Basaloid squamous carcinoma Mucosal melanoma Spindle cell carcinoma Squamous cell carcinoma Verrucous carcinoma Oral florid papillomatosis Oral melanosis Smoker's melanosis Pemphigoid Benign mucous membrane Pemphigus Plasmoacanthoma Stomatitis Aphthous Denture-related Herpetic Smokeless tobacco keratosis Submucous fibrosis Ulceration Riga–Fede disease Verruca vulgaris Verruciform xanthoma White sponge nevus Teeth ( pulp , dentin , enamel ) Amelogenesis imperfecta Ankylosis Anodontia Caries Early childhood caries Concrescence Failure of eruption of teeth Dens evaginatus Talon cusp Dentin dysplasia Dentin hypersensitivity Dentinogenesis imperfecta Dilaceration Discoloration Ectopic enamel Enamel hypocalcification Enamel hypoplasia Turner's hypoplasia Enamel pearl Fluorosis Fusion Gemination Hyperdontia Hypodontia Maxillary lateral incisor agenesis Impaction Wisdom tooth impaction Macrodontia Meth mouth Microdontia Odontogenic tumors Keratocystic odontogenic tumour Odontoma Dens in dente Open contact Premature eruption Neonatal teeth Pulp calcification Pulp stone Pulp canal obliteration Pulp necrosis Pulp polyp Pulpitis Regional odontodysplasia Resorption Shovel-shaped incisors Supernumerary root Taurodontism Trauma Avulsion Cracked tooth syndrome Vertical root fracture Occlusal Tooth loss Edentulism Tooth wear Abrasion Abfraction Acid erosion Attrition Periodontium ( gingiva , periodontal ligament , cementum , alveolus ) – Gums and tooth-supporting structures Cementicle Cementoblastoma Gigantiform Cementoma Eruption cyst Epulis Pyogenic granuloma Congenital epulis Gingival enlargement Gingival cyst of the adult Gingival cyst of the newborn Gingivitis Desquamative Granulomatous Plasma cell Hereditary gingival fibromatosis Hypercementosis Hypocementosis Linear gingival erythema Necrotizing periodontal diseases Acute necrotizing ulcerative gingivitis Pericoronitis Peri-implantitis Periodontal abscess Periodontal trauma Periodontitis Aggressive As a manifestation of systemic disease Chronic Perio-endo lesion Teething Periapical, mandibular and maxillary hard tissues – Bones of jaws Agnathia Alveolar osteitis Buccal exostosis Cherubism Idiopathic osteosclerosis Mandibular fracture Microgenia Micrognathia Intraosseous cysts Odontogenic : periapical Dentigerous Buccal bifurcation Lateral periodontal Globulomaxillary Calcifying odontogenic Glandular odontogenic Non-odontogenic: Nasopalatine duct Median mandibular Median palatal Traumatic bone Osteoma Osteomyelitis Osteonecrosis Bisphosphonate-associated Neuralgia-inducing cavitational osteonecrosis Osteoradionecrosis Osteoporotic bone marrow defect Paget's disease of bone Periapical abscess Phoenix abscess Periapical periodontitis Stafne defect Torus mandibularis Temporomandibular joints , muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities Bruxism Condylar resorption Mandibular dislocation Malocclusion Crossbite Open bite Overbite Overeruption Overjet Prognathia Retrognathia Scissor bite Maxillary hypoplasia Temporomandibular joint dysfunction Salivary glands Benign lymphoepithelial lesion Ectopic salivary gland tissue Frey's syndrome HIV salivary gland disease Necrotizing sialometaplasia Mucocele Ranula Pneumoparotitis Salivary duct stricture Salivary gland aplasia Salivary gland atresia Salivary gland diverticulum Salivary gland fistula Salivary gland hyperplasia Salivary gland hypoplasia Salivary gland neoplasms Benign: Basal cell adenoma Canalicular adenoma Ductal papilloma Monomorphic adenoma Myoepithelioma Oncocytoma Papillary cystadenoma lymphomatosum Pleomorphic adenoma Sebaceous adenoma Malignant: Acinic cell carcinoma Adenocarcinoma Adenoid cystic carcinoma Carcinoma ex pleomorphic adenoma Lymphoma Mucoepidermoid carcinoma Sclerosing polycystic adenosis Sialadenitis Parotitis Chronic sclerosing sialadenitis Sialectasis Sialocele Sialodochitis Sialosis Sialolithiasis Sjögren's syndrome Orofacial soft tissues – Soft tissues around the mouth Actinomycosis Angioedema Basal cell carcinoma Cutaneous sinus of dental origin Cystic hygroma Gnathophyma Ludwig's angina Macrostomia Melkersson–Rosenthal syndrome Microstomia Noma Oral Crohn's disease Orofacial granulomatosis Perioral dermatitis Pyostomatitis vegetans Other Eagle syndrome Hemifacial hypertrophy Facial hemiatrophy Oral manifestations of systemic disease
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Arthrogryposis, Distal, Type 1a
Omim
Bamshad et al. (1996) revised the classification by Hall et al. (1982) of the common mendelian arthrogryposis syndromes. The various phenotypic forms of distal arthrogryposis are classified hierarchically according to the proportion of features they share with one another and are designated DA1 through DA10 (summary by Bamshad et al., 2009). ... The congenital contractures in distal arthrogryposis type 2B (Sheldon-Hall syndrome; see 601680) are similar to those observed in DA1, but affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth. ... Distal arthrogryposis-8 (DA8) has been reclassified as contractures, pterygia, and variable skeletal fusions syndrome-1A (CPSKF1A; 178110). See 277720 for discussion of a possible autosomal recessive form of DA2A. See 208155 for a description of Illum syndrome, which includes 'whistling face,' central nervous system dysfunction, and calcium deposition in central nervous system and muscle. ... Hall et al. (1983) recognized a specific congenital contracture (arthrogryposis) syndrome in 135 of 350 patients with various kinds of congenital contractures.
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Ovarian Cancer
Wikipedia
In most cases, symptoms exist for several months before being recognized and diagnosed . [17] [18] Symptoms can be misdiagnosed as irritable bowel syndrome . [19] The early stages of ovarian cancer tend to be painless. ... People with hereditary nonpolyposis colon cancer (Lynch syndrome), and those with BRCA-1 and BRCA-2 genetic abnormalities are at increased risk. ... Peutz–Jeghers syndrome , a rare genetic disorder, also predisposes people to sex cord tumour with annular tubules . [19] [17] Ollier disease and Maffucci syndrome are associated with granulosa cell tumors in children and may also be associated with Sertoli-Leydig tumors. ... Gonadoblastomas in people with Swyer or Turner syndrome become malignant in approximately 40% of cases. ... They can also cause mature teratoma implants to grow throughout the abdomen in a disease called growing teratoma syndrome ; these are usually benign but will continue to grow during chemotherapy, and often necessitate further surgery.CTNNB1, BRCA2, BRCA1, KRAS, PIK3CA, PTEN, MLH1, TP53, RAD51C, BRIP1, MSH2, ERBB2, AKT1, CDH1, PMS2, OPCML, BRAF, ESR1, CCNE1, RAD51D, RRAS2, MSH6, PRKN, STK11, TP63, SMARCA4, BNC2, CHMP4C, MYC, TIPARP, EPCAM, MAPK1, STAT3, MUC16, IL6, EGFR, TERT, CXCL8, BABAM1, MSLN, FOLR1, SKAP1, MET, ZEB1, FASN, SPARC, TNFSF10, MTOR, AKT2, CDKN1B, SULF1, TUBB3, XIAP, APC, MAPK3, CAV1, CYP1B1, YAP1, WNT7A, SKP2, MECOM, EDNRA, MKI67, DPH1, AREG, KLK10, FGF1, SLC5A5, CDK12, ATP7B, TP53BP1, GADD45A, BIRC5, TYMS, HDAC6, RBL2, SELENBP1, BCL9, BAP1, MRE11, ATG7, SOD2, NME2, ATR, CCND2, NECTIN2, DESI2, NR5A1, ATG5, ARL11, MAP2K1, SLC2A1, PRTFDC1, CAMKK2, ANXA3, ITGA8, GPR150, SOD1, IL6ST, HOXD11, TLR4, ALOX5, HOXD1, PIK3R1, URI1, EREG, JMJD6, DYRK1B, RNF43, DLC1, ERCC4, FAM107A, HAUS6, PMS1, DOK1, LRRC59, IL11RA, TRMT11, POP4, CCNH, ALOX12B, WDR77, KANSL1, LRRC46, PRC1, SLC22A10, ERCC6, SRSF10, HOXB9, C19orf12, AQP3, PLEKHF1, HOXD9, GRIK2, MACIR, SPDEF, ATF3, PPP1CC, CD82, CDKN2A, CHEK2, PALB2, FERMT3, SMAD4, SERPINC1, ATM, HNF1B, NBN, PTCH1, HAGLR, HOXB13, HAGLROS, INTS2, CXCL12, MAP2K7, EMSY, TWIST1, NME1, CCL2, MTCO2P12, BARD1, XRCC3, GSTM1, PALLD, MED13, KLK6, SUFU, ESR2, CCND1, IL10, PGR, ABCB1, MIR21, ERCC1, ALDH1A1, HOTAIR, SPP1, FSHR, USHBP1, MIR214, VDR, VEGFA, LINC00824, CLDN4, AR, PTCH2, MIR145, ANKLE1, COL11A2, EPHB2, EGF, TGFB1, FOXO3, ERBB3, CDKN1A, BCL2, NFE2L2, MLLT10, IGF1, EZH2, MMP2, MUTYH, HMGA2, SLC12A9, TBC1D9, H3P10, BOD1L1, MUC1, MTHFR, MMP9, RAD51, TNF, COX2, MRC1, HIF1A, ARID1A, CASP3, SIRT1, PPM1D, DIRAS3, RASSF1, CD274, IGF2, MTDH, MDM2, PIK3CB, PAX8, CXCR4, PARP1, PROM1, PIK3CD, PIK3CG, HGF, CD44, PTGS2, MIR200C, XRCC2, NCOA3, NOTCH3, CSF1, WFDC2, CLDN3, MALAT1, SERPINE1, NACC1, AMH, DNMT1, EPHA2, TP73, MIR182, VTCN1, ARHGAP24, SOX2, CD24, KDR, CDK4, SLPI, FOXM1, NFKB1, GSTT1, KLK4, L1CAM, MCL1, ZEB2, MIR34A, CXCR2, IFNG, CYP19A1, CDK2, IGF1R, BMI1, HMGB1, COL18A1, TIMM8A, HPGDS, BSG, MIR200A, PTGS1, ABCG2, PTK2, PKM, RSF1, TEK, CHEK1, IL17A, FBXW7, EDN1, LEP, XRCC1, SLCO6A1, MIR148A, MIR137, PDCD1, NOTCH1, MIR205, CYP1A1, SCN1A, GABPA, ANXA2, GSTK1, ROR1, FANCF, HSPB1, FN1, FLT1, IFI27, HSPB2, UCA1, HLA-G, HK2, TGM2, ERCC2, GRP, AURKA, GSTP1, CXCR3, PLG, MMP3, BRD4, KLK7, MIR139, AMHR2, GAB2, CASR, LGALS3, CXADR, NEAT1, JAK2, BAX, NT5E, COMT, HSPB3, DNER, MYD88, TWNK, XPO1, WNT5A, CLU, ANIB1, COMMD3-BMI1, NR1I3, IL1B, ETS1, BAG3, ROR2, AXL, ARR3, CEACAM5, MIR27A, KLK3, ZNF217, MIR29B1, SCGB2A1, CALCR, NEU1, FGF2, SNCG, SNAI1, CTAG1A, FOXP1, IL24, MEG3, CASP8, MMP7, MIR29B2, MIR429, TGFA, MMP1, LPA, TRIM13, LOX, MIR203A, SFRP1, HTC2, FILIP1L, POU5F1P3, MIR152, HPSE, POU5F1, GALT, E2F1, GNRH1, GLI1, POU5F1P4, PHB, HBEGF, IL1RN, CXADRP1, IL1A, CCN1, PRKAR1A, MIR146A, ITGB3, SPG7, MIR506, FGFR2, PAEP, POSTN, GNRHR, KLK5, MIR125A, TGFBI, PPARG, VIM, APEX1, GRN, GSTM2, ADIPOQ, SPINK1, NRAS, PPP2R1A, PAX2, SRA1, CBLL2, PRKAA1, IGFBP2, HTRA1, LGALS1, CCDC54, SALL2, HRAS, UBR5, MIR141, MIR143, ITGB1, MAP2K4, MIR17, IL18, IL15, DCTN6, IL4, IL2, IL1R1, KLK1, LINC01194, PSMD9, LHCGR, SPA17, PVT1, SNAI2, MDM4, SEMA4D, MCAM, RBP1, ZNRD2, MIR25, TICAM2, MIR133B, BRD2, HOXA9, HOXA10, MARCHF1, ST8, PCNA, SLC31A1, KLK8, CDKN2D, CDX2, CCR7, ABCC2, COL11A1, KLF6, VEGFC, KLRK1, CRP, GGCT, CTAG1B, CTSL, MUL1, CYP2C8, CYP17A1, ESRRA, DAB2, DCC, DDB2, DNMT3A, DPP4, DUSP1, MNX1-AS1, MTA1, EEF1A2, ELAVL2, THY1, NEURL1, EPHX1, LPAR2, CDKN2B, CDK7, SYCE1L, HEY, H3P23, ACKR3, BECN1, RAB25, CBSL, ANGPT2, PCAT1, SPRY4-IT1, BCL2L1, SMUG1, KLRC4-KLRK1, KLHL1, SIRT3, DKK3, TMED7-TICAM2, IL21, PDCD4, CASP9, RUNX3, SPHK1, CBS, GAS5, SQSTM1, MIR1307, CD80, CD34, CD47, AIMP2, CDC42, NANOG, KL, F3, TMED7, SYK, FHIT, KLK14, FAP, FOLR2, MIR340, HSPA14, TUG1, LIN28B, LTBP1, AQP5, RNASE3, GDE1, CGB8, MARCHF7, SMYD3, XBP1, NTRK1, PRKCI, REST, TMPRSS3, SMAD7, CGB3, CGA, MIR375, ARRB1, ASNS, GSK3B, H4C14, PRL, WEE1, PRKCA, OGG1, FOXO1, IGF2BP1, MIR134, CSF3, APOBEC3B, PPP2R1B, FGF3, BIRC3, KIT, FGF7, VCAM1, MIR31, S100B, S100A10, MIR106A, UGT1A1, CREB1, S100A1, SPAG9, STMN1, MIRLET7B, APOE, PRKAA2, PRKAB1, FGFR1, EZR, MIR335, ASRGL1, H4C13, HDAC9, CDH13, RB1, H4C12, IMMP1L, PTPRC, H4C6, PPP1R2C, MST1R, H4C4, COX1, HM13, NEK2, GAL, H4C1, MIB1, NR1I2, MIAT, PTAFR, SLIT2, DICER1, PTBP1, NCAM1, LPAR3, NRP1, BBC3, BRS3, BTG1, SIK2, H4C11, H4C9, WWOX, NOB1, MAP3K3, CGB5, GLB1, MBD2, NR3C1, RAF1, BCL10, H4C5, H4C2, FLT4, TUSC3, PPARGC1A, ZFAS1, H4C8, NGF, H4C3, GRB7, BCL3, MMP14, MIR1271, RAC1, IL33, ADAM17, PAK1, PIK3R3, VCAN, PGF, ICAM1, LPAR1, MIR206, TYMP, GDF15, ADM, FABP4, MIR200B, SERTAD1, LOC111589215, IL22, H4-16, CDK14, IL7, CHFR, MIR19A, LIN28A, IKBKB, MIR532, NQO1, JAG1, ANXA6, IL2RA, MCPH1, MIR199A2, MIR199A1, POLE, HSP90AA1, PSAT1, HSPA9, PMAIP1, PLAU, AURKB, ABCA4, ABO, MIR363, KIF14, TGFBR2, EPHA1, WWTR1, ST14, ENG, H4C15, MIR497, ACTB, ADRM1, SIX1, MIR503, NAPSA, STAT1, SHMT1, SHBG, GATA6, EIF4E, HSPA5, FOXP3, SERPINF1, EIF5A2, HDAC1, MIR193A, SERPINA5, CXCR6, TCF21, ITGA5, PBX1, CCL20, ILK, ISG20, KHDRBS1, ALK, MIR150, AMBP, MSC, MIR155, CYP1A2, MIR630, ITGAV, CCN2, UBE2I, TCEAL7, PAPPA, DAXX, MIR142, AGTR1, GPC3, MIR30C2, MIR613, MIR15A, CXCL11, SCO2, CTCF, TRPM7, CYTOR, PML, PTPA, POLB, SYTL2, PTGER3, CHPT1, CYGB, SST, PNO1, RGS5, TNFRSF10A, HTRA3, EIF3A, CUL4A, MAPK8, HELQ, SNHG3, MAP2K6, SPARCL1, CGB1, PPA1, INPP4B, JRK, DOC2A, PROS1, MELK, STC2, PNPLA2, SMURF1, FOXQ1, SSTR4, PRSS8, SALL4, DENR, PON1, MUC13, BIRC6, RAB22A, SOCS1, TP73-AS1, CGB2, LAPTM4B, CD276, TNFRSF4, RHBDF2, SPRY4, TRPC3, GALNT14, TSG101, CCL25, CCL21, PTTG1, CCL18, ING5, BRMS1L, TTR, FSCN1, UVRAG, DOT1L, SLC52A2, CLDN10, SLX4, UBE2N, TRIM56, FSD1, SCGB1A1, KDM3A, MAK16, NR1H2, UTRN, ARHGAP10, TNFRSF1A, NPEPPS, TRBV20OR9-2, SLC22A3, SLC16A1, SESN2, FHL5, GGNBP2, TFAM, NLRP2, FSD1L, THEMIS2, TMSB10, PDCD5, DHDDS, ROCK2, ST6GAL1, SFTPD, TIE1, SRSF3, TIMP1, SFRP4, TIMP2, TIMP3, NKX2-1, TKT, TEAD1, TLR2, KDM2B, AFAP1-AS1, FANCM, SPINT1, SOX9, MYDGF, TFPI2, RAD51B, NCOA4, KLK15, ADAM12, SOX11, SUSD2, NECTIN4, MIA, TET1, DPP9, S100A4, TGIF2, LGR6, PTPN11, PTPN6, SCAF1, FZD7, DIABLO, UBXN11, KEAP1, SERPINA3, STC1, PTHLH, PCLAF, HDAC4, RBM3, GRAP2, RRM2, IKBKE, RPS6KB1, FKBP14, CDCP1, ATAD1, RPE65, ROS1, ROCK1, VTN, UBASH3B, OTUB1, KLF4, RGS10, TRIM27, WT1, PUM1, RELA, REG1A, GORASP1, RECQL, RBP4, TFAP2A, RCC2, CD163, YWHAZ, LDHA, PLK1, POTEM, MIR508, ERVW-1, MIR498, EN2, MIR193B, EPAS1, EPHA3, ADGRE2, UBE2C, EPHB4, ERBB4, MIR490, MIR489, MIR433, ETV4, F2R, KLK11, CT45A1, MIR424, BTN3A2, E2F3, HMGA1, E2F2, ACOT7, ATAD2, SETD2, MIR661, CTNND1, CTSB, DNAJC15, CX3CR1, PYCARD, CYP27B1, DAPK1, MIR572, DLG2, MIR551B, MIR411, FSTL1, PRB2, DOCK1, ATN1, CKAP4, STIP1, FCN2, MIR381, GNA12, SFN, MIR99A, GPR42, MIR96, MIR93, MIR34C, CXCL1, PDIA3, GSN, GTF2H1, GUSB, GZMB, H2AX, CCR9, SERPIND1, MIR30C1, MIR30A, HIC1, POTEKP, GJB1, XRCC6P5, FOSL2, MIR378A, FGFR4, VEGFD, FOXC2, FMR1, BTG3, FOS, MIR373, MIR370, GHRH, WDFY2, ING4, GAB1, DCTN4, GAS6, GATA4, LILRB1, MIR328, NID2, CSF2, CCR2, SIRT5, APAF1, APOA1, FAS, AQP1, EHF, LSINCT5, STS, LATS2, ATP7A, NUP62, DAPK2, BCHE, BDNF, MIR3064, PADI4, BMP4, BMP7, RBFOX2, PELP1, SERBP1, PRPF31, ANPEP, ADRA2B, ACHE, ACTG1, ACTG2, ACTN4, CHD5, ADAM10, ADH1B, ADRA1A, LOC110806263, ANGPT1, RNF19A, POLDIP2, AHR, CATSPERZ, BRMS1, SNHG14, KLK13, CDR1-AS, SRRM2, HOTTIP, MAPK14, SIK3, CDKN3, FAM83H-AS1, CDR2, CHGB, CHI3L1, CHKA, CKB, CLCA1, CLIC1, MIR708, CMA1, DAAM1, MCAT, CPOX, CDKN2B-AS1, CRK, CRMP1, MCTS1, VASH1, CDC25A, CDK1, ADGRE5, MIR1236, AGO2, CAMP, CAPN2, CAPNS1, MIR1290, RUNX2, RUNX1, RUNX1T1, CBR1, CD68, CCNG1, MIR1182, RBMS3, LOC100288966, ENTPD1, CD40, KDM6B, CD59, HLA-E, HSD17B12, MIR299, NDN, POTED, HMOX1, MGMT, RSPO1, KLK9, NDC80, MPO, NDRG1, MSH3, MSI1, MSMB, H19, MUC4, MVD, IL17D, IL27, TLR9, MEN1, MAP3K5, CARM1, AGR2, SIRT6, LIMK1, IL23A, LMX1A, LNPEP, HDAC7, LRP1, C12orf75, LINC01139, USP17L2, MARCKS, SMAD3, CIB1, ACTBL2, CD46, MDK, NCK1, SOX18, LCP1, NFATC1, CHAF1A, PCSK6, PRDX1, VPS37A, BCL2L11, PCDH9, PCM1, ABI1, PDK1, PF4, GSTO2, TNFSF15, PI3, PIN1, PITX2, PLAG1, CTHRC1, CTCFL, ABCB6, DNM1L, NOTCH4, DGCR8, NFKBIA, AGR3, TRIM28, ZNF385B, TRAP1, DDIT4, NPR1, TNFRSF11B, RAD50, DLL4, LYPD4, PWAR1, EGLN1, NTS, NTSR1, LIF, FST, ADAM19, ING1, KCNMA1, HPN, HPR, MIR132, MIR22, JUN, MIR149, HSD17B1, HSD17B2, MIR18A, HSF1, CHST15, IDO1, MIR221, HSPA1A, TNFRSF12A, IMPA1, HSPA4, HSPD1, MIR211, MIR187, MIR191, MIR195, IGFBP1, IL13, USP39, ARID3B, IGFBP3, KRT19, HOXA@, MIRLET7E, MIR23B, HOXA7, MIR23A, MIRLET7D, MIR27B, MIR100, PLK2, FOXA2, MIR223, AHSA1, MIR222, HOXD@, SOX6, APBB1IP, ARMCX1, UNC93A, BEX4, TMPRSS4, CC2D1A, TERF2IP, ESRP1, TENM4, LAMP3, MTBP, BCCIP, PARD3, DDX4, EPB41L4A-DT, GIPC2, LTB4R2, WT1-AS, METTL3, DACT1, TNFRSF21, TRIT1, ADAMTSL4, RAI14, BDH2, STEAP1, C1GALT1, TLR7, PCDHB17P, TRPV6, IL17RB, TES, THEG, PHF19, GPR137, MARCHF5, PMEPA1, VPS13C, TLR8, GBGT1, SLC25A37, RETN, GNL3, PCDH17, PAF1, PHF20, XAF1, RBM38, IGF2-AS, CKAP2, TRIM44, HAVCR1, ZNF654, QRSL1, AGO1, EFEMP2, ADAMDEC1, BMP10, PIK3R4, KIF26B, NXT1, LSR, LINC00339, IP6K2, GINS2, STOML2, UCHL5, HCFC1R1, ST6GALNAC1, HIPK2, SSH3, CHST11, ZMYND10, UBAP2, NLK, ZNF415, TESC, BRD7, HOOK2, USP47, PRICKLE4, HIF1AN, TRIAP1, LINC00312, HSD17B7, CNDP2, PSMC3IP, ANKRD11, ICOS, SENP1, TMEM45A, GULP1, KCNIP3, PRR11, UHRF1, TMEM14A, SLC39A4, ANO1, LRP1B, ANGPTL3, TOX3, NXF3, BHLHE22, PCDHB3, GOLPH3L, CHIC1, PCDHA1, BAIAP2L1, FXYD5, VTA1, FGFRL1, TEX11, RCBTB1, RNF20, CTNNBL1, NSUN2, ARID4B, IGHV1-12, TMEM97, RAB23, USE1, SLCO1B3, EML4, TOR2A, HTRA2, UIMC1, SOHLH2, ENOSF1, ECHDC1, PBK, WRAP53, ASCC1, RIF1, RABGEF1, RPS6KA6, DPP8, NAT2, CTNNBIP1, MIR372, DUXAP10, DUXAP9, MIR423, MIR383, MIR382, MIR377, MIR361, LNCR1, PALM2AKAP2, MIR369, KMT5AP1, MIR376C, MIR346, MIR342, MIR339, MIR338, PIM3, MIR17HG, MIR98, MIR34B, MIR4435-2HG, JPX, MIR448, MIR18B, MIR574, MIR552, SNORD89, MIR542, SNHG20, NME1-NME2, ANXA8, SCFV, CRNDE, FLVCR1-DT, MIR486-1, MIR483, HCC, MIR502, MIR495, MIR494, MIR146B, MIR491, MIR485, MIR320A, MIR30D, MIR302A, MIR107, MIRLET7A3, MIRLET7A2, GTF2H5, WDFY3-AS2, LINC02145, TEX19, CSAG3, NSUN4, SBSN, GEN1, PWAR4, SOX2-OT, MACC1, GOLGA6A, STING1, CCDC144NL, B4GALNT4, TAS2R64P, KRT6C, MIRLET7C, MIR10A, MIR301A, MIR126, MIR28, MIR224, MIR217, MIR216A, MIR212, MIR208A, MIR204, MIR19B1, MIR196A2, MIR196A1, MIR192, MIR186, MIR183, MIR15B, MIR144, MIR140, MIR136, MIR130B, MIR130A, MIR590, MIR591, MIR595, NNT-AS1, ERVK-20, MIR4443, TMPOP2, TMX2-CTNND1, MICA, LINC01210, SNHG16, ADAMTS9-AS2, GIHCG, PCAT6, OCLN, DSCAM-AS1, APELA, LUCAT1, MAGI2-AS3, LINC01133, H3P41, BACE1-AS, MIR761, DNM3OS, LINC00702, MIR718, ERVK-18, H3P47, H3P13, H3P9, LINC02605, ERVK-32, UPK3B, SOCAR, IRAIN, DLEU1-AS1, CSAG2, MIR6780B, MIR8073, MIR6126, AK6, DARS-AS1, NCK1-DT, CASC9, PANDAR, FALEC, MIR762, MIR1244-1, MIR603, MIR298, MIR770, MIR758, SNORD114-11, SNORD114-10, NBAT1, ZBED5-AS1, POTEF, MAGED4, ANXA8L1, CASC8, MIR663A, MIR655, MIR654, MIR640, MIR637, MIR629, MIR622, MIR616, MIR614, AD10, VTRNA2-1, MIR1908, MIR873, MIR1180, MIR1181, MIR1294, MIR1270, MIR1207, MIR1246, MIR1284, LNCOC1, LINC00092, MFT2, AD12, AGAP2-AS1, MIR760, MIR543, MIR942, MIR940, MIR934, MIR216B, MIR374B, TRIM59, SCAI, DLX6-AS1, MUS81, NRSN2, RMI1, ESRP2, ATAD5, ZNF671, TCTN2, NEK11, CSPP1, AGBL2, CAMKMT, EHMT1, VASH2, HAND2-AS1, MICALL2, VEPH1, HECTD3, HMBOX1, CDC73, C9orf16, SPSB1, TARS2, ATG9A, FER1L4, IMMP2L, HDAC10, FGFBP2, HMCN1, ITCH, JAM3, SOX7, SHARPIN, RNF146, NUAK2, VMP1, MAP1LC3B, FAM83D, MAGED4B, SETD7, LIMD2, TSGA10, WNT10A, PDGFD, CHAC1, DDA1, NCALD, CREBZF, PTBP2, MUC3B, HAMP, CIP2A, TRMT9B, IFT80, SEMA6A, ZNF398, MTUS1, MTA3, SLC12A5, TENM2, S100A14, AICDA, PBXIP1, DANCR, CEMIP, PAK5, NUP107, CXCL16, PBOV1, UBE2Z, APOBEC3G, WNK1, DEPTOR, NUCKS1, DCLRE1C, HIF3A, SOX17, ARHGEF28, PDLIM2, ROBO3, DPEP2, VSIR, MOAP1, TNMD, GOLPH3, PRSS22, CHP2, HEATR6, SRR, BRCA3, SLC4A11, REG4, LINC00319, STOML3, SPINK13, CNTN4, CCDC80, COMMD1, IL23R, PHF13, CREB3L4, CACUL1, C10orf82, EIF5AL1, UBE2F, GATA5, MUC17, FOXR2, TRIM50, ACVR1C, RBM45, SWSAP1, OSCAR, FEZF1-AS1, UBL4B, ZC3H18, ABHD11-AS1, C20orf204, SLC13A5, B4GALNT3, MIR4697HG, LINC00515, FDCSP, ASPM, TAB3, NAALADL2, LINC01342, IPMK, SPDYA, FOXK1, OPN5, RTKN2, MED19, LINC00504, RPL22L1, TET3, MSI2, ZG16B, ATRIP, TSPYL5, NKD1, KRT88P, H2BC12, SNHG12, MIR22HG, NUDCD1, TNS4, HAVCR2, TRIM52, TXNDC17, CBX2, MYO18B, MYPN, L3MBTL3, HSDL2, TCHP, MINDY4, KAT8, ABRAXAS1, SLC22A16, ABCC10, TARS3, MLIP, SPPL3, LINC00161, TWIST2, RPL39L, NIBAN1, FAM210B, LRRC3B, TNFRSF13C, LARP4, CDCA5, PRRT2, EPSTI1, NAPRT, SPECC1, TMEM88, MYLK3, CABLES1, RSAD2, RCCD1, CHMP2B, H3C1, PNKD, KRT10, KRT5, KIFC1, KISS1, KIF2A, KCNN3, KCNH2, JUND, JUNB, JARID2, JAK1, ITK, ITGB8, EIF6, ITGB4, ITGB2, ITGAM, ITGAE, ITGA2, IRS1, IRF4, IRF2, IRF1, ITGA6, KRT9, KRT17, CXCL2, LAG3, MAGEA3, MAGEA1, MAFD2, SMAD6, SMAD2, NBR1, TM4SF1, TACSTD2, LY75, LUM, LTF, LRPAP1, LPP, LMX1B, LMNA, LIG4, LGALS8, LEPR, LCN2, LCK, LCAT, LAMC2, LAMA3, IRAK1, INSR, CXCL10, INHBA, ERAS, HPRT1, HP, HOXD3, HOXC6, HOXB3, HOXA11, HOXA5, HOXA4, HOXA1, HNF4A, FOXA1, HMMR, HMGB3, HLA-DRB3, HLA-DRB1, HLA-DOA, NRG1, HGFAC, HDAC2, HARS1, GSTZ1, GSTA2, HRC, HSPA1B, HSPA2, IL4R, INHA, INCENP, ILF3, TNFRSF9, IL16, IL15RA, IL13RA2, IL12A, IL11, IL6R, IGFBP7, HSPE1, IGFBP5, IGF2R, IFNB1, IFNA13, IFNA1, IDH1, ID4, ID2, ID1, HUS1, MAL, MAN1A1, MAP4, NOTCH2, PEG3, PECAM1, PDK4, PDGFA, PDE4A, PCYT1A, PCNT, PCDH8, PAX1, PAWR, PAK3, PAK2, SERPINB2, PEBP1, P4HB, OVGP1, CLDN11, OSM, OPA1, DDR2, NTRK3, NTRK2, YBX1, PFN2, PGK1, SLC25A3, POLR2A, PRKDC, PRKCB, PPP2R2C, PPP2R2A, PPP1R1A, PPIA, PPAT, PPARD, POU4F3, PON2, POLD2, SERPINA1, POLD1, PLXNB1, PLEC, PLCG1, PLAT, PLAGL2, PLAGL1, PLA2G1B, PIP, PIM1, SLC11A2, NOS3, MAPT, NOS2, MTHFD1, NUDT1, MSX1, MSN, MSH5, ABCC1, MPP2, MNAT1, MMP19, MMP15, MMP13, MMP8, AFDN, CXCL9, MIF, CD99, KITLG, MGAT3, MEST, MEOX1, MEF2D, MEF2A, MCM3, MUC2, MUC3A, MUC5AC, NF1, NOS1, NQO2, NME3, NMBR, NM, NID1, NGFR, NFKBIB, NFE2, NF2, NEFH, MXI1, NEDD9, NEDD8, PPP1R12A, MYOD1, MYO6, MYH6, MYCN, MYCL, MYBL2, MYB, GRPR, RAPGEF1, NECTIN3, CD58, CD86, CD14, CD247, CD3E, CD1A, CCNB1, KRIT1, CCK, SERPINA6, CBFB, CAT, CASP2, CAST, CAPG, CALR, CALM3, CALM2, CALM1, CALCA, CALB2, CALB1, CACNB1, DDR1, CD36, CD151, GRB2, CDC6, CRYZ, HAPLN1, CRKL, CREBBP, CPT2, CP, COX8A, COX5B, SLC31A2, COL5A1, CNR1, CNN1, CCR4, CCR1, CLN3, CHD2, CEBPA, CDR1, CDKN1C, CDK5, CDH11, CDH6, CDC25B, CA9, VPS51, C3, SERPING1, BIRC2, ANXA11, ANXA5, ANXA4, ANXA1, AMPD3, ALPP, ALOX15, ALOX12, ALDH2, ALB, AHSG, APLNR, AGER, AFP, AFM, ADRB2, ACTN3, ACTL6A, ACP3, ACR, ACACA, ABL1, APP, FASLG, RHOA, CEACAM1, BUB1, BTF3P11, KLF5, KLF9, BPHL, FOXL2, BNIP3L, BNIP3, BMPR1B, BLM, BCL7A, RHOB, BCL6, BCAT1, BAGE, BAD, BACH1, B2M, ASS1, ARNTL, ARNT, RHOC, CS, CSE1L, CSF3R, EPHA7, FHL2, FGF9, FEN1, FBP1, EFEMP1, FBLN1, FANCG, ACSL3, FANCD2, FANCA, F9, F2RL2, F2RL1, EYA2, ETV5, ETS2, ETFA, ERV3-1, ERN1, ERCC5, ERCC3, NR2F6, EPS8, FOXG1, FLNA, FLNB, GDF2, GPX3, GPER1, GPR4, GPI, GNAI2, GLI2, GCLM, GCLC, GJA1, GDNF, KAT2A, FOLR3, GCHFR, GBP1, GATA3, GATA2, GAPDH, G6PC, FUT1, FRA9E, FRA6E, FOSB, EPHB3, EP300, CSK, ELK1, DHFR, DDX10, DDIT3, AKR1C1, DDB1, ACE, DCK, CD55, CYP3A5, CYP3A4, CYP2B6, CYP2A7, CYLD, CUX1, CTSK, CTSD, CTNND2, CTBP2, CTBP1, CSTB, CST6, CST5, CST2, DLX1, DLX4, DLX5, E2F6, ELF5, ELF3, EIF5A, EIF5, EIF4EBP1, MEGF8, CELSR3, EFNA1, EEF1B2P2, EEF1A1, DVL1, DMP1, DUSP5, DUSP3, DSC3, SLC26A3, DPYD, DNMT3B, DNM2, DNAH8, DNA2, DMRT1, MAPK10, PRLR, LGMN, PDZK1IP1, CERT1, PTPRU, HUWE1, FRAT1, SH2B3, AKT3, THOC1, RBX1, FGF19, GFPT2, MFN2, NUAK1, SETDB1, MAGI2, ELMO1, SPATA2, ARMCX2, RB1CC1, SPOCK2, BMS1, MTSS1, DOCK4, UTP14C, LRPPRC, TNK2, PRSS3, DHRS2, PROCR, LAMTOR5, CIB2, FBLN5, CREB3, CLEC10A, TAB1, PRMT5, ANAPC10, SYCP2, SEMA3A, MICU1, KLF2, ABCA7, DLEU1, PAK4, APC2, STAG1, STUB1, SPRY1, NBR2, FLOT1, EIF1, GREB1, N4BP1, FAM53B, MDC1, CLDN1, CLDN6, PIAS2, SLC13A2, DOK2, UBE2M, RNF8, SOCS3, MPZL1, F2RL3, USP13, H2AC11, H3C7, TIMELESS, CCNA1, PRPF4B, BUD31, SLC5A6, ARHGEF7, CDC123, PER2, APLN, ALDH1A2, USP14, NMI, SLC16A3, RASAL2, CTR9, PDIA4, AKAP12, CLOCK, NR1D1, BCAR1, SPAG7, CXCL14, RPH3AL, KIF23, ITM2A, SCAF11, GSTO1, NTN1, COX5A, PLAA, ZFYVE9, ITGBL1, SLC9A3R2, SNAP29, GCNT3, NOLC1, OLFM4, AKAP3, MRPL28, PTGDR2, FAM168A, ATP11B, CIC, EPB41L3, CDK19, TTLL5, PPRC1, SWAP70, KDM4B, PDZRN3, FAIM2, KDM2A, TPX2, DKK1, SIRT2, RAB3GAP1, MMRN1, ZNF365, FNDC3A, PHLDA1, TUSC2, PHB2, VSIG4, SYNE1, PSD3, LARP1, PLXNB2, CLIC4, TMEM158, IFFO1, PART1, PRDX5, TNFAIP8, BAMBI, RAB3GAP2, ZNF318, BRD1, PPP1R15A, ADNP, SNHG1, LDOC1, DDX58, CASP14, TSPAN12, ZNF281, PES1, ICMT, ABCB9, ANGPTL2, KLF8, NXPH2, CCT4, GALNT6, PRSS21, RALBP1, SUB1, LYVE1, PGRMC1, PPP1R13L, NEU3, FRS2, WASF3, IQGAP2, PLAC1, GIPC1, MASP2, STAG3, OGA, SPINT2, IGF2BP2, IGF2BP3, PDPN, TRIM16, PDLIM5, SLCO1B1, SMC2, TOMM34, TMED2, MLLT11, TBC1D8, AKAP13, NISCH, PKP3, ZNF277, LZTS1, PSIP1, PTP4A3, CORO1A, PLAAT3, KAT7, BTN3A1, KCNQ1OT1, EMILIN1, CIT, KATNA1, TOPBP1, CNMD, WWP2, ABHD2, OGFR, RIPK3, SLC27A2, CDK5R1, KAT2B, HDAC3, SGTA, SRD5A2, SPOCK1, SP1, SOX4, SOX3, SOX1, SOS1, SOAT1, SNCA, SMPD1, SMARCB1, SMARCA1, SLIT3, SLC22A2, SLC12A3, SLC6A12, SLC6A8, SLC6A1, SLC2A5, SLC2A4, SLC2A3, SIM2, STIL, SREBF1, SRY, STAT4, TCF12, THBS2, THBS1, THBD, TGFBR1, TGFB3, TFPI, TFF1, NR2F2, TEP1, DYNLT3, TCF7L2, STAT5A, ELOB, TBX15, TBCE, CNTN2, TARS1, TAP1, SYT1, STX1A, SULT1E1, STAT5B, ST3GAL1, SGK1, TK1, SFRP5, RFC3, RET, RENBP, RBBP6, KDM5A, PLAAT4, RARA, RAP1B, RAP1A, RAD52, RAD21, RAB5A, PTPRZ1, PTPN13, PTPN1, PTN, PTK7, PTGDS, PSMB9, PSMB8, PSMB4, PSG5, PSEN2, RNF2, ROBO1, RPL23A, SCD, SEMG1, SELP, SDC1, CX3CL1, CCL22, CCL19, CCL15, CCL8, CCL5, CLEC11A, SERPINB3, MRPL23, SATB1, SAI1, SAA4, SAA1, S100A11, S100A7, S100A6, RYK, RPS7, RPS6KA1, THRA, TLE3, CFLAR, AXIN2, PARG, GEMIN2, SORBS2, CUL3, NCK2, ULK1, SRPX, SPOP, H3C2, H3C10, H3C12, H3C8, H3C11, H3C6, H3C3, H3C4, H2BC21, H2AC17, H2AC16, H2AC15, H2AC13, FZD4, CDC7, ELP1, IFITM1, BARX2, TNFSF9, IQGAP1, LIN7A, FGF18, TNFRSF10C, TNFRSF11A, DLK1, SNAP23, TNFRSF6B, TNFRSF14, CD164, CTNNAL1, FCN3, MBTPS1, PEA15, TNKS, CHRD, RNASET2, RUVBL1, PRKRA, PDLIM4, MKNK1, LGR5, BRAP, TRRAP, TM7SF2, USP9X, VEGFB, USP1, USF1, UQCRFS1, UMOD, UGT1A, SLC35A2, UCHL3, UCHL1, UBC, UBB, TSHR, TSC2, TSC1, TRPC1, TRAF2, HSP90B1, TPM4, TPD52, TOP2A, TOP1, TNXB, TMSB4X, VGF, VHL, NSD2, TFEB, USP11, MLRL, SLC7A5, CDK2AP1, YEATS4, MFAP5, FOSL1, RASSF7, ARHGEF5, SEM1, ALDH5A1, WNT11, USP7, PXDN, PRDM2, SLC30A1, ZBTB17, ZNF143, XPC, XPA, XDH, WNT2B, H3P40
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Congenital Esophageal Diverticulum
Orphanet
Congenital esophageal diverticulum is a rare, non-syndromic malformation of the esophagus, present at birth, and characterized by a false diverticulum, most often located in the upper, posterior esophagus.
- Phosphoserine Aminotransferase Deficiency, Infantile/juvenile Form Orphanet
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Sclerosteosis
Orphanet
Sclerosteosis is a very rare serious sclerosing hyperostosis syndrome characterized clinically by variable syndactyly and progressive skeletal overgrowth (particularly of the skull), resulting in distinctive facial features (mandibular overgrowth, frontal bossing, midfacial hypoplasia), cranial nerve entrapment causing facial palsy and deafness, and potentially lethal elevation of intracranial pressure.
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Tricuspid Valve Agenesis
Orphanet
A rare, congenital, non-syndromic heart malformation characterized by partial or complete absence of tricuspid valve tissue and its apparatus, with an existing orifice.
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Congenital Absence Of Both Lower Leg And Foot
Orphanet
Congenital absence of both lower leg and foot is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral or bilateral absence of both the tibia and the fibula, as well as the distal elements composing the foot.
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Uterine Cervical Aplasia And Agenesis
Orphanet
A rare, non-syndromic, uterovaginal malformation characterized by variable degrees of cervical aplasia, ranging from complete agenesis to the presence of a cervix with a cervical canal that contains a blind end.
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Congenital Hypoplasia Of Thumb
Orphanet
The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.
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Neurolymphomatosis
Orphanet
Neurolymphomatosis is a rare syndrome of peripheral and cranial nerve dysfunction in patients with hematologic malignancies, mostly non-Hodgkin's lymphoma or acute leukemia, characterized by painful or painless involvement of peripheral or cranial nerves or nerve roots.SMUG1, TLR3, MIR155, TNFRSF8, TP53, IRF7, AKT1, ACAD8, TLR4, USO1, NXF1, SEC14L2, IFIT5, ERVW-1, STAT3, RTEL1, BCL11B, CGAS, MIR10A, MIR130B, ERVK-20, ERVK-18, MTCO2P12, TERT, PTGS2, SATB1, ARSL, ATR, CHEK1, EPYC, FLNB, HLA-C, IFNA1, IFNA13, IFNB1, IFNG, IL2RA, IL4, ISG20, COX2, MTX1, NCAM1, PIK3CA, PIK3CB, PIK3CD, PIK3CG, ERVK-32
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Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Orphanet
Familial papillary thyroid carcinoma with renal papillary neoplasia (fPTC/PRN) is an extremely rare inherited tumor syndrome within the familial nonmedullary thyroid cancer group (fNMTC; see this term).
- Distal Arthrogryposis Type 10 Orphanet
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Afib Amyloidosis
Orphanet
A rare, hereditary amyloidosis with primary renal involvement characterized by fibrinogen A-alpha-chain amyloid deposition predominantly in the kidney glomeruli and clinically presenting with hypertension, uremia, nephrotic syndrome slowly progressing to end-stage renal disease.
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Alys Amyloidosis
Orphanet
Symptoms and signs include nausea, vomiting, dyspepsia, gastritis, gastrointestinal hemorrhage, abdominal pain, hepatic rupture, sicca syndrome, purpura and petechiae, lymphadenopathy and renal dysfunction.
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Odonto-Onycho-Dermal Dysplasia
Orphanet
A rare, genetic, ectodermal dysplasia syndrome characterized by dental abnormalities (primarily agenesis of the permanent and deciduous teeth with cone-shaped incisors and canines), onychodysplasia, palmoplantar hyperkeratosis, dry skin and, more variably, hypotrichosis, and sweat gland dysfunction (hyper- or hypohidrosis).
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Polydactyly Of A Biphalangeal Thumb
Orphanet
Polydactyly of a biphalangeal thumb or PPD1 is the most common form of preaxial polydactyly of fingers (see this term), a limb malformation syndrome, that is characterized by the duplication of one or more skeletal components of a biphalangeal thumb.GLI1, GLI3, SALL4, DACT1, DYNC2H1, CEP55, RPGRIP1, WDR35, CC2D2A, IFT80, LMBR1, CPLANE1, TMEM231, TCTN2, CSPP1, MKS1, CEP290, B9D2, TMEM107, COL25A1, WDR34, TMEM67, HYLS1, KIF7, WDR60, BHLHA9, CHN1, TMEM216, GJA1, HOXD13, LETM1, NEK1, SALL1, SHH, SMO, TFAP2A, NSD2, NELFA, OFD1, EFTUD2, MAFB, PHF8, RPGRIP1L, TCTN3, B9D1, WDPCP, OXA1L, RRDX, ALB
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Familial Hemophagocytic Lymphohistiocytosis
Orphanet
Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth.
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Sensorineural Deafness With Dilated Cardiomyopathy
Orphanet
Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.
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Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Omim
Moog et al. (1999) pointed out the similarities between their cases and that of Suarez and Stickler (1974) and differentiated them from osteogenesis imperfecta (see 166200), Hajdu-Cheney syndrome (102500), and serpentine fibula syndrome on the basis of collagen studies, lack of osteopenia, the presence of cortical defects, which they believe to be pathognomic, lack of osteolysis, and facial phenotype.