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Trichothiodystrophy 4, Nonphotosensitive
Omim
Corrective lenses were required by 65% of the participants, and decreased best-corrected visual acuity was present in 28% of TTD patients and 71% of XP/TTD patients.
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Pulmonary Insufficiency
Wikipedia
. ^ "Pulmonic Regurgitation Treatment & Management: Medical Care, Surgical Care, Consultations" . 2018-06-28. Cite journal requires |journal= ( help ) ^ "Heart valve surgery: MedlinePlus Medical Encyclopedia" . www.nlm.nih.gov .
- Proctitis Wikipedia
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Mycosis
Wikipedia
.; Michaud, Catherine; Murray, Christopher J.L.; Naghavi, Mohsen (Oct 28, 2013). "The Global Burden of Skin Disease in 2010: An Analysis of the Prevalence and Impact of Skin Conditions" .CLEC7A, TLR4, IFNG, CYP51A1, IL1B, DECR1, ACTB, NINL, EFEMP2, ACAD8, HEYL, PRDX5, QPCT, PDSS1, SMUG1, IGF2BP1, CYSLTR1, FOXP3, GPA33, CCL4L2, NCR1, PPIG, MARCO, CDC14A, WAS, TNF, DUOX2, DUOX1, TRNT1, IL33, ARAFP2, CCL4L1, IMMP1L, CLEC12A, PDIK1L, CDAN1, NLRP3, CLEC6A, TSLP, PLAC8, HM13, RNF34, ZC3H12A, IL25, TNMD, TSPYL2, MYDGF, TAT, TLR2, STAT2, STAT6, AKT1, IL2, IL1RN, IGF2R, ICAM1, HSP90AA1, CFH, GP1BA, FN1, ERF, DVL2, CYLD, CRP, CPA1, CDR1, CBS, SERPINH1, BCR, ARAF, ALS3, IL3, IL4, IL6, PRG2, SOD1, SLPI, SLC19A1, CCL4, RFC1, PRKAB1, PRKAA2, PRKAA1, PFKFB3, IL10, OSBP, NCAM1, RNR1, MBL2, KCNB1, IDO1, IMPA1, IL17A, MFT2
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Uterine Prolapse
Wikipedia
. ^ "Sacrocolpopexy with hysterectomy using mesh to repair uterine prolapse" . NICE . GOV.UK . Retrieved 28 March 2018 . External links [ edit ] Illustrated description of Manchester Operation at atlasofpelvicsurgery.com Inverted uterus treatment, from Merck Professional Classification D ICD - 10 : N81.4 ICD - 9-CM : 618.1 MeSH : D014596 DiseasesDB : 13651 External resources MedlinePlus : 001508 v t e Female diseases of the pelvis and genitals Internal Adnexa Ovary Endometriosis of ovary Female infertility Anovulation Poor ovarian reserve Mittelschmerz Oophoritis Ovarian apoplexy Ovarian cyst Corpus luteum cyst Follicular cyst of ovary Theca lutein cyst Ovarian hyperstimulation syndrome Ovarian torsion Fallopian tube Female infertility Fallopian tube obstruction Hematosalpinx Hydrosalpinx Salpingitis Uterus Endometrium Asherman's syndrome Dysfunctional uterine bleeding Endometrial hyperplasia Endometrial polyp Endometriosis Endometritis Menstruation Flow Amenorrhoea Hypomenorrhea Oligomenorrhea Pain Dysmenorrhea PMS Timing Menometrorrhagia Menorrhagia Metrorrhagia Female infertility Recurrent miscarriage Myometrium Adenomyosis Parametrium Parametritis Cervix Cervical dysplasia Cervical incompetence Cervical polyp Cervicitis Female infertility Cervical stenosis Nabothian cyst General Hematometra / Pyometra Retroverted uterus Vagina Hematocolpos / Hydrocolpos Leukorrhea / Vaginal discharge Vaginitis Atrophic vaginitis Bacterial vaginosis Candidal vulvovaginitis Hydrocolpos Sexual dysfunction Dyspareunia Hypoactive sexual desire disorder Sexual arousal disorder Vaginismus Urogenital fistulas Ureterovaginal Vesicovaginal Obstetric fistula Rectovaginal fistula Prolapse Cystocele Enterocele Rectocele Sigmoidocele Urethrocele Vaginal bleeding Postcoital bleeding Other / general Pelvic congestion syndrome Pelvic inflammatory disease External Vulva Bartholin's cyst Kraurosis vulvae Vestibular papillomatosis Vulvitis Vulvodynia Clitoral hood or clitoris Persistent genital arousal disorder
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Ichthyosis Vulgaris
Wikipedia
.) ^ a b Ichthyosis Research (2006) , Foundation for Ichthyosis & Related Skin Types (F.I.R.S.T) External links [ edit ] DermAtlas 28 Photographs from Ichthyosis Information Classification D ICD - 10 : Q80.0 ICD - 9-CM : 757.1 OMIM : 146700 MeSH : D016112 DiseasesDB : 6647 SNOMED CT : 254157005 External resources MedlinePlus : 001451 eMedicine : derm/678 v t e Congenital malformations and deformations of integument / skin disease Genodermatosis Congenital ichthyosis / erythrokeratodermia AD Ichthyosis vulgaris AR Congenital ichthyosiform erythroderma : Epidermolytic hyperkeratosis Lamellar ichthyosis Harlequin-type ichthyosis Netherton syndrome Zunich–Kaye syndrome Sjögren–Larsson syndrome XR X-linked ichthyosis Ungrouped Ichthyosis bullosa of Siemens Ichthyosis follicularis Ichthyosis prematurity syndrome Ichthyosis–sclerosing cholangitis syndrome Nonbullous congenital ichthyosiform erythroderma Ichthyosis linearis circumflexa Ichthyosis hystrix EB and related EBS EBS-K EBS-WC EBS-DM EBS-OG EBS-MD EBS-MP JEB JEB-H Mitis Generalized atrophic JEB-PA DEB DDEB RDEB related: Costello syndrome Kindler syndrome Laryngoonychocutaneous syndrome Skin fragility syndrome Ectodermal dysplasia Naegeli syndrome / Dermatopathia pigmentosa reticularis Hay–Wells syndrome Hypohidrotic ectodermal dysplasia Focal dermal hypoplasia Ellis–van Creveld syndrome Rapp–Hodgkin syndrome / Hay–Wells syndrome Elastic / Connective Ehlers–Danlos syndromes Cutis laxa ( Gerodermia osteodysplastica ) Popliteal pterygium syndrome Pseudoxanthoma elasticum Van der Woude syndrome Hyperkeratosis / keratinopathy PPK diffuse : Diffuse epidermolytic palmoplantar keratoderma Diffuse nonepidermolytic palmoplantar keratoderma Palmoplantar keratoderma of Sybert Meleda disease syndromic connexin Bart–Pumphrey syndrome Clouston's hidrotic ectodermal dysplasia Vohwinkel syndrome Corneodermatoosseous syndrome plakoglobin Naxos syndrome Scleroatrophic syndrome of Huriez Olmsted syndrome Cathepsin C Papillon–Lefèvre syndrome Haim–Munk syndrome Camisa disease focal : Focal palmoplantar keratoderma with oral mucosal hyperkeratosis Focal palmoplantar and gingival keratosis Howel–Evans syndrome Pachyonychia congenita Pachyonychia congenita type I Pachyonychia congenita type II Striate palmoplantar keratoderma Tyrosinemia type II punctate : Acrokeratoelastoidosis of Costa Focal acral hyperkeratosis Keratosis punctata palmaris et plantaris Keratosis punctata of the palmar creases Schöpf–Schulz–Passarge syndrome Porokeratosis plantaris discreta Spiny keratoderma ungrouped: Palmoplantar keratoderma and spastic paraplegia desmoplakin Carvajal syndrome connexin Erythrokeratodermia variabilis HID / KID Other Meleda disease Keratosis pilaris ATP2A2 Darier's disease Dyskeratosis congenita Lelis syndrome Dyskeratosis congenita Keratolytic winter erythema Keratosis follicularis spinulosa decalvans Keratosis linearis with ichthyosis congenita and sclerosing keratoderma syndrome Keratosis pilaris atrophicans faciei Keratosis pilaris Other cadherin EEM syndrome immune system Hereditary lymphedema Mastocytosis / Urticaria pigmentosa Hailey–Hailey see also Template:Congenital malformations and deformations of skin appendages , Template:Phakomatoses , Template:Pigmentation disorders , Template:DNA replication and repair-deficiency disorder Developmental anomalies Midline Dermoid cyst Encephalocele Nasal glioma PHACE association Sinus pericranii Nevus Capillary hemangioma Port-wine stain Nevus flammeus nuchae Other/ungrouped Aplasia cutis congenita Amniotic band syndrome Branchial cyst Cavernous venous malformation Accessory nail of the fifth toe Bronchogenic cyst Congenital cartilaginous rest of the neck Congenital hypertrophy of the lateral fold of the hallux Congenital lip pit Congenital malformations of the dermatoglyphs Congenital preauricular fistula Congenital smooth muscle hamartoma Cystic lymphatic malformation Median raphe cyst Melanotic neuroectodermal tumor of infancy Mongolian spot Nasolacrimal duct cyst Omphalomesenteric duct cyst Poland anomaly Rapidly involuting congenital hemangioma Rosenthal–Kloepfer syndrome Skin dimple Superficial lymphatic malformation Thyroglossal duct cyst Verrucous vascular malformation Birthmark
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Tooth Loss
Wikipedia
"Risk factors for tooth loss over a 28-year period". J Dent Res . 69 (5): 1126–30.IL1B, IL1A, CRP, PAX9, EDA, WNT10A, SERPINF2, CCN6, MSX1, IL6, HPD, EDAR, AGO2, VSX1, VDR, COTL1, VCAM1, IL37, MBL3P, TLR9, CEBPZ, GDF15, OTOR, IFIH1, AXIN2, CSRP3, UBXN11, VEGFA, AGXT, TNF, SYP, APOE, APP, B2M, BMP4, CALML3, CASP3, CTSC, MAPK14, VCAN, ESR1, FGFR1, MBL2, MGP, OGG1, ORM1, ALB, SFRP5, BOP
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Hereditary Coproporphyria
Wikipedia
Archived from the original on 2014-03-20 . Retrieved 2012-05-28 . External links [ edit ] Classification D ICD - 10 : E80.2 ( ILDS E80.222) ICD - 9-CM : 277.1 OMIM : 121300 MeSH : D046349 DiseasesDB : 30591 External resources eMedicine : med/1888 Porphyria at NLM Genetics Home Reference Coproporphyria at NIH 's Office of Rare Diseases MedlinePlus Encyclopedia : Porphyria v t e Heme metabolism disorders Porphyria , hepatic and erythropoietic ( porphyrin ) early mitochondrial: ALAD porphyria Acute intermittent porphyria cytoplasmic: Gunther disease/congenital erythropoietic porphyria Porphyria cutanea tarda / Hepatoerythropoietic porphyria late mitochondrial: Hereditary coproporphyria Harderoporphyria Variegate porphyria Erythropoietic protoporphyria Hereditary hyperbilirubinemia ( bilirubin ) unconjugated: Gilbert's syndrome Crigler–Najjar syndrome Lucey–Driscoll syndrome conjugated: Dubin–Johnson syndrome nd sheet Rotor syndrome
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Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Omim
Hebert et al. (1987) reported a case, bringing the total number of cases to 29 (28 female; 1 male). Their patient had associated Shone syndrome ('parachute mitral valve,' supravalvular ring of the left atrium, subaortic stenosis, coarctation of the aorta) and meningomyelocele.
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Megaduodenum
Wikipedia
. ^ da Silva, Amanda Pinter Carvalheiro; Boteon, Yuri Longatto; Tercioti, Valdir; Lopes, Luiz Roberto; de Souza Coelho Neto, João; Andreollo, Nelson Adami (2014-11-28). "Megaduodenum associated with gastric strongyloidiasis" .
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Cogan Syndrome
Wikipedia
"Neurologic manifestations of Cogan syndrome". Neurology . 28 (3): 278–81. doi : 10.1212/wnl.28.3.278 .SETX, APTX, AHI1, MRE11, PNKP, PIK3R5, PGAP2, MKS1, CC2D2A, INPP5E, ZC4H2, NGLY1, PIGV, CWF19L1, RPGRIP1L, EXOSC3, B9D1, TMEM237, SUFU, TMEM138, UFC1, TMEM216, TREM2, CPLANE1, FA2H, TMEM231, PIGW, HYLS1, ARL13B, CEP120, TOE1, CEP41, PGAP3, TMEM67, PIGY, PIGO, TMEM107, KIAA1109, ARMC9, CEP290, TCTN2, CSPP1, TCTN1, KIAA0556, LAMA1, ATXN2, SPR, AFG3L2, RORA, PEX2, BCR, PSEN2, PSEN1, MAPK1, NPHP1, MYO9A, MAPT, ITPR1, GRID2, GBA, DLAT, CRKL, SORL1, ARL3, BRAF, APP, PIBF1, SLC30A9, TOMM40, TUBB3, ABCA7, STUB1, DNM1L, KIAA0586, CEP104, PIGL, CACNA1G, SQSTM1, GPAA1, XRCC1, TYROBP, TPP1, AFP, PTPRJ, RO60, TNF, ADCY5
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Appendix Cancer
Wikipedia
Advanced cases for 5 year survival range from 12-28%. Mucinous neoplasm [ edit ] Low-grade appendiceal mucinous neoplasm: Minimal cytological atypia of the epithelial cells. [14] Mucinous cystadenoma is an obsolete term for appendiceal mucinous neoplasm. [15] Treatment [ edit ] Small carcinoids (<2 cm) without features of malignancy may be treated by appendectomy if complete removal is possible.
- Costeff Syndrome Wikipedia
- Kleefstra Syndrome 1 Omim
- Diffuse Idiopathic Pulmonary Neuroendocrine Cell Hyperplasia Wikipedia
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Ischiopatellar Dysplasia
Wikipedia
You can help by adding to it . ( December 2017 ) History [ edit ] Ischiopatellar dysplasia is sometimes referred to as Scott-Taor syndrome after the researchers who first described ischiopatellar dysplasia as they recognized it in a family as an autosomal dominant disorder in 1979. [26] This finding was important as they were the first to note that it was a benign disorder that is separate from the more severe nail-patella syndrome. [27] Other common names for ischiopatellar syndrome are small patella syndrome (SPS), since the patellae are often small or absent in patients who have this syndrome, and coxo-podo-patellaire syndrome. [28] [29] [30] References [ edit ] ^ INSERM US14.
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Obsessive-Compulsive Disorder
Omim
Twenty-six pairs were concordant for hoarding, 28 were discordant for hoarding, and 23 with concordant for being unaffected with hoarding.SLC6A4, HTR2A, HOXB8, SLITRK5, CCKBR, HTR1D, BDNF, ADCK1, LINC02395, SLC1A1, TAFA2, NECTIN1, COMT, CARMIL1, GPR135, POU1F1, MAOA, DLGAP3, TNF, DRD4, HTR1B, TPH2, SGCE, GRIN2B, SLITRK1, OXTR, SLC6A3, OLIG2, HTR2C, DRD2, MCF2L, LRP2, HTR3A, DRD3, LOC110806262, GRIK2, CDH2, OPN1SW, NTRK3, IL6, KRT7, ABO, MOG, ACACA, PBX1, TAL1, TYMS, HTT, ARFGEF1, TPSG1, PYCARD, SCLY, EBPL, BMS1, STIN2-VNTR, ELK3, GRM5, CYP2C19, GRN, CYP2D6, TSPO, GAD2, DLG4, AKAP13, GOLGA8A, KDM4C, PRDX5, CYP19A1, ARFGEF2, CNTNAP2, DNM3, DNASE1L3, DRD1, COX8A, HCN4, TOR1A, SETD1A, NOS1AP, PPIG, PDLIM7, DLGAP1, HTR3B, EFNA5, DGKD, TRRAP, UCP2, CUX1, GTS, CHPT1, CNR1, ACTB, ACAN, NPS, MIR485, BDNF-AS, PHOBS, NPSR1, AQP6, HTR3E, C9orf72, HTR3D, SPRED2, ARID2, HTR3C, OR2AG1, RBM45, OLIG1, CACNA1C, BTBD9, DISP1, PPP1R9B, CCT6A, DHDDS, CDH9, TXN, CLA3, THAS, EPHB2, IL17A, NFKBIL1, MTHFR, GABRG2, MEIS2, MECP2, MAP6, LTBP3, GAPDH, LMX1A, LCT, GATA3, KIF22, CXCL8, HLA-DRB1, GCH1, IL1B, IL1A, IGKC, IGF1, IFNG, GDNF, GJB2, HTR2B, GRIA3, GRIK3, HTR1A, NOS1, GABBR1, NTF3, NTRK2, ERCC2, SRM, SRI, SPARC, SLC22A3, SLC18A1, ESR1, ESR2, SLC1A3, SLC1A2, FCGR3A, CCL2, SCN3A, RYR3, FCGR3B, MAPK1, FGFR3, PGC, PDE4D, FKBP5, P2RX7, FOS, OPRM1, OMD, FRAXE, NPY
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Juvenile Polyposis/hereditary Hemorrhagic Telangiectasia Syndrome
Omim
Clinical Features Cox et al. (1980) described a 28-year-old woman and her 10-year-old daughter with this combination.BMPR1A, SMAD4, ENG, PTEN, CRP, ACVRL1, STK11, PTGS2, IL1B, TLR2, SLPI, MBL2, IL6, MUTYH, ELAVL1, TLR4, BMPR2, SAG, BMP2, BCS1L, TGFA, APC, TNF, HPT, TP53, SMUG1, GREM1, MBL3P, CRELD2, CDC73, CASP1, PTCH1, PMS2, PIK3CG, PIK3CD, PIK3CB, PIK3CA, MYH11, ADA, MUC5AC, CDKN1B, SMAD5, CDX2, PDX1, CTNNB1, DCC, HTC2, HHT3
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Prostate Cancer, Hereditary, 1
Omim
Gronberg et al. (1999) analyzed 40 (12 original and 28 newly identified) Swedish families with hereditary prostate cancer that, on the basis of 40 markers spanning a 25-cM interval within 1q24-q25, showed evidence of linkage.RNASEL, HOXB13, ELAC2, MSR1, CHEK2, BRCA2, BRCA1, CDKN1B, MSMB, SRD5A2, CDH1, EPHB2, NBN, TTC28, LARP4B, KDM2A, BCL2L11, TSHZ1, HAUS6, DENND4B, ADGRG1, MBD2, BCAS1, PPFIBP2, TCF7L2, HNF1B, TCF4, B3GAT1, MAD1L1, UHRF1BP1, COL23A1, RN7SKP114, RNU6-491P, RNU6-148P, THEG5, MEIS1-AS3, OACYLP, DUBR, RASSF3, CDCA7, RNF43, MOB2, ATAT1, SUGCT, RFX7, PKNOX2, FBRSL1, KNL1, RNLS, EMSY, RNU6-456P, DOCK2, PAX9, MYO9B, MMP14, POU2F2, MBNL1, MAP2K1, ITGB8, INCENP, CHD3, HLA-DOA, DNMT3B, MECOM, CASP8, BCL2, ATM, ARHGAP6, TOR1A, KLK3, PCAP, CBX4, HPCX, AMACR, KLF6, AR, HPC3, CYP17A1, MYC, NPEPPS, PROS1, PSAT1, PLAG1, GSTK1, CYP19A1, RGS8, BRIP1, SLCO6A1, MIR888, ARL11, CYP1B1, CYP1A1, RGSL1, SULT1A1, PALB2, ERG, RASA1, PTEN, TP53, VDR, SPOP, PPM1D, PPP2R2A, PON1, PKHD1, LZTS1, MLH1, LGALS8, KLK2, RASA2, PINX1, GSTT1, PDSS2, GSTP1, GSTM1, CT55
- Mitochondrial Myopathy, Infantile, Transient Omim