UNSW Embryology
Chromosomal Abnormalities
Trisomy 18 (Edwards Syndrome)
Select Entry from OMIM |
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Clicking on the OMIM links below will require internet access unless a local copy is shown. |
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Select Entries from OMIM -- Online Mendelian Inheritance in Man94 entries found, searching for "trisomy 18" 601161 TRISOMY 18-LIKE SYNDROME *150800 LEIOMYOMA, HEREDITARY MULTIPLE, OF SKIN #190685 TRISOMY 21 *169800 PEPTIDASE A; PEPA *151430 B-CELL CLL/LYMPHOMA 2; BCL2 #176270 PRADER-WILLI SYNDROME; PWS #105830 ANGELMAN SYNDROME; AS 257300 NONDISJUNCTION *222600 DIASTROPHIC DYSPLASIA #130650 BECKWITH-WIEDEMANN SYNDROME; BWS *147450 SUPEROXIDE DISMUTASE 1; SOD1 #154700 MARFAN SYNDROME; MFS *600309 ATRIOVENTRICULAR SEPTAL DEFECT; AVSD *208150 PENA-SHOKEIR SYNDROME, TYPE I *236200 HOMOCYSTINURIA *309550 FRAGILE SITE MENTAL RETARDATION 1; FMR1 *120220 COLLAGEN, TYPE VI, ALPHA-1; COL6A1 *601097 PERIPHERAL MYELIN PROTEIN 22; PMP22 *133450 EWING SARCOMA BREAKPOINT REGION 1; EWSR1 *141800 HEMOGLOBIN--ALPHA LOCUS 1; HBA1 106250 ANKYLOBLEPHARON FILIFORME ADNATUM AND CLEFT PALATE #104300 ALZHEIMER DISEASE; AD *176430 PREMATURE CENTROMERE DIVISION; PCD *274000 THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME #142623 HIRSCHSPRUNG DISEASE #215100 RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1; RCDP1 #146150 HYPOMELANOSIS OF ITO; HMI 212790 CENTROMERE DIVISION, PREMATURE; PCD #210900 BLOOM SYNDROME; BLM *180200 RETINOBLASTOMA; RB1 *164860 MET PROTOONCOGENE; MET *138320 GLUTATHIONE PEROXIDASE; GPX1 *138180 GLUTAMATE OXALOACETATE TRANSAMINASE, SOLUBLE; GOT1 *142600 HEXOKINASE 1; HK1 *151385 RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1 *138300 GLUTATHIONE REDUCTASE; GSR *227500 FACTOR VII DEFICIENCY *227600 FACTOR X DEFICIENCY 122470 CORNELIA DE LANGE SYNDROME 1; CDL1 *230400 GALACTOSEMIA *159555 MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA; MLL #161200 NAIL-PATELLA SYNDROME; NPS *176000 PORPHYRIA, ACUTE INTERMITTENT *193300 VON HIPPEL-LINDAU SYNDROME; VHL #118220 CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A; CMT1A #116920 LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD #115470 CAT EYE SYNDROME; CES #268400 ROTHMUND-THOMSON SYNDROME; RTS *180860 RUSSELL-SILVER SYNDROME; RSS *188400 DIGEORGE SYNDROME; DGS #190350 TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 304120 CRANIOORODIGITAL SYNDROME *104311 ALZHEIMER DISEASE, FAMILIAL, TYPE 3 *102700 ADENOSINE DEAMINASE; ADA *107741 APOLIPOPROTEIN E; APOE #253400 SPINAL MUSCULAR ATROPHY III; SMA3 *104760 AMYLOID BETA A4 PRECURSOR PROTEIN; APP *177400 BUTYRYLCHOLINESTERASE; BCHE 135900 FIFTH DIGIT SYNDROME *110700 BLOOD GROUP--DUFFY SYSTEM; FY *150250 LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1 *151400 LEUKEMIA, CHRONIC LYMPHATIC; CLL *207410 ANTLEY-BIXLER SYNDROME; ABS *123100 CRANIOSYNOSTOSIS, TYPE 1; CRS1 *110100 BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS; BPES 155150 MEDIAN-ULNAR NERVE COMMUNICATIONS #113650 BRANCHIOOTORENAL DYSPLASIA *136850 FUMARATE HYDRATASE; FH *236680 HYDROLETHALUS SYNDROME *243000 INDIFFERENCE TO PAIN #247200 MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS 248400 MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL DEFICIENCY *248700 MARDEN-WALKER SYNDROME *249000 MECKEL SYNDROME, TYPE 1; MKS1 211200 BOWEN SYNDROME OF MULTIPLE MALFORMATIONS *256700 NEUROBLASTOMA *147200 IMMUNOGLOBULIN KAPPA CONSTANT REGION; IGKC 261800 PIERRE ROBIN SYNDROME *263200 POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1; PKHD1 #144700 RENAL CELL CARCINOMA 1; RCC1 *208400 ASPARTYLGLUCOSAMINURIA 109670 BETA-ADRENERGIC STIMULATION, RESPONSE TO; BAS *308310 INCONTINENTIA PIGMENTI, TYPE II; IP2 *153430 LYMPHOCYTE CYTOSOLIC PROTEIN 1; LCP1 *314670 X INACTIVATION-SPECIFIC TRANSCRIPT; XIST *600065 INTEGRIN, BETA-2; ITGB2 *236100 HOLOPROSENCEPHALY 1, ALOBAR; HPE1 *600674 MICROTIA-ANOTIA *600759 ALZHEIMER DISEASE, FAMILIAL, TYPE 4 *600837 GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; GDNF 164210 OCULOAURICULOVERTEBRAL DYSPLASIA *102600 ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT #603596 POLYDACTYLY *604590 Fc FRAGMENT OF IgG, LOW AFFINITY IIb, RECEPTOR FOR; FCGR2B |
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