Select Entries from OMIM -- Online Mendelian
Inheritance in Man
100 entries found, searching for "trisomy
21"
#190685
TRISOMY 21 (See
local copy of entry)
*147450
SUPEROXIDE DISMUTASE 1; SOD1
*107450
INTERFERON, ALPHA, BETA, AND OMEGA, RECEPTOR
1; IFNAR1
*120220
COLLAGEN, TYPE VI, ALPHA-1; COL6A1
*600309
ATRIOVENTRICULAR SEPTAL DEFECT; AVSD
*114830
CARBONYL REDUCTASE 1; CBR1
*171860
PHOSPHOFRUCTOKINASE, LIVER TYPE; PFKL
*236200
HOMOCYSTINURIA
#104300
ALZHEIMER DISEASE; AD
*600065
INTEGRIN, BETA-2; ITGB2
*159595
MYELOPROLIFERATIVE SYNDROME, TRANSIENT
*163920
HIGH MOBILITY GROUP PROTEIN 14; HMG14
#116920
LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD
*104760
AMYLOID BETA A4 PRECURSOR PROTEIN; APP
*151385
RUNT-RELATED TRANSCRIPTION FACTOR 1; RUNX1
*602103
TRANSMEMBRANE PROTEIN 1; TMEM1
*236100
HOLOPROSENCEPHALY 1, ALOBAR; HPE1
*600444
SOLUTE CARRIER FAMILY 5, MEMBER 3; SLC5A3
*602259
TETRATRICOPEPTIDE REPEAT DOMAIN 3; TTC3
*600855
DUAL-SPECIFICITY TYROSINE
PHOSPHORYLATION-REGULATED KINASE 1A; DYRK1A
*123580
CRYSTALLIN, ALPHA-A; CRYAA
*176261
POTASSIUM CHANNEL, VOLTAGE-GATED, ISK-RELATED
SUBFAMILY, MEMBER 1; KCNE1
*164740
V-ETS AVIAN ERYTHROBLASTOSIS VIRUS E26
ONCOGENE HOMOLOG 2; ETS2
*138440
PHOSPHORIBOSYLGLYCINAMIDE
FORMYLTRANSFERASE/PHOSPHORIBOSYLGLYCINAMIDE
SYNTHETASE/PHOSPHORIBOSYLAMINOIMIDAZOLE SYNTHETASE;
GART
*170285
PERICENTRIN; PCNT
#105830
ANGELMAN SYNDROME; AS
#130650
BECKWITH-WIEDEMANN SYNDROME; BWS
#176270
PRADER-WILLI SYNDROME; PWS
*138320
GLUTATHIONE PEROXIDASE; GPX1
#154700
MARFAN SYNDROME; MFS
#142623
HIRSCHSPRUNG DISEASE
*222600
DIASTROPHIC DYSPLASIA
*176430
PREMATURE CENTROMERE DIVISION; PCD
*180200
RETINOBLASTOMA; RB1
#115470
CAT EYE SYNDROME; CES
*601097
PERIPHERAL MYELIN PROTEIN 22; PMP22
*133450
EWING SARCOMA BREAKPOINT REGION 1; EWSR1
*159555
MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA;
MLL
*142600
HEXOKINASE 1; HK1
*102600
ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT
#210900
BLOOM SYNDROME; BLM
*207410
ANTLEY-BIXLER SYNDROME; ABS
171850 PHOSPHOFRUCTOKINASE, RED CELL
158250 MOSAICISM, CHROMOSOMAL
*102700
ADENOSINE DEAMINASE; ADA
*107741
APOLIPOPROTEIN E; APOE
*600759
ALZHEIMER DISEASE, FAMILIAL, TYPE 4
*164860
MET PROTOONCOGENE; MET
*193300
VON HIPPEL-LINDAU SYNDROME; VHL
*263200
POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1;
PKHD1
#190350
TRICHORHINOPHALANGEAL SYNDROME, TYPE I;
TRPS1
*104311
ALZHEIMER DISEASE, FAMILIAL, TYPE 3
*176000
PORPHYRIA, ACUTE INTERMITTENT
*600837
GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR;
GDNF
*227500
FACTOR VII DEFICIENCY
*176390
PREGNANCY-SPECIFIC BETA-1-GLYCOPROTEIN 1;
PSG1
143460 5-@HYDROXYTRYPTAMINE OXYGENASE
REGULATOR; HTOR
*309550
FRAGILE SITE MENTAL RETARDATION 1; FMR1
*141800
HEMOGLOBIN--ALPHA LOCUS 1; HBA1
*180860
RUSSELL-SILVER SYNDROME; RSS
*188400
DIGEORGE SYNDROME; DGS
*230400
GALACTOSEMIA
*208150
PENA-SHOKEIR SYNDROME, TYPE I
#146150
HYPOMELANOSIS OF ITO; HMI
*177400
BUTYRYLCHOLINESTERASE; BCHE
*150250
LARSEN SYNDROME, AUTOSOMAL DOMINANT; LRS1
*200990
ACROCALLOSAL SYNDROME; ACLS
*208400
ASPARTYLGLUCOSAMINURIA
155150 MEDIAN-ULNAR NERVE COMMUNICATIONS
#144700
RENAL CELL CARCINOMA 1; RCC1
*147200
IMMUNOGLOBULIN KAPPA CONSTANT REGION; IGKC
#174200
POLYDACTYLY, POSTAXIAL, TYPE A1
135900 FIFTH DIGIT SYNDROME
*227600
FACTOR X DEFICIENCY
*153430
LYMPHOCYTE CYTOSOLIC PROTEIN 1; LCP1
#118220
CHARCOT-MARIE-TOOTH DISEASE, TYPE 1A;
CMT1A
*115500
CATALASE; CAT
#247200
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
*249000
MECKEL SYNDROME, TYPE 1; MKS1
#253400
SPINAL MUSCULAR ATROPHY III; SMA3
*256700
NEUROBLASTOMA
#161200
NAIL-PATELLA SYNDROME; NPS
*274000
THROMBOCYTOPENIA--ABSENT RADIUS SYNDROME
*277170
VARADI-PAPP SYNDROME
*308310
INCONTINENTIA PIGMENTI, TYPE II; IP2
212790 CENTROMERE DIVISION, PREMATURE; PCD
*314670
X INACTIVATION-SPECIFIC TRANSCRIPT; XIST
#113650
BRANCHIOOTORENAL DYSPLASIA
*600095
SPLIT-HAND/FOOT MALFORMATION, TYPE 3;
SHFM3
*600156
HIRSCHSPRUNG DISEASE 3
*110700
BLOOD GROUP--DUFFY SYSTEM; FY
*110100
BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND
PTOSIS; BPES
*151430
B-CELL CLL/LYMPHOMA 2; BCL2
*164050
NUCLEOSIDE PHOSPHORYLASE; NP
109670 BETA-ADRENERGIC STIMULATION, RESPONSE
TO; BAS
122470 CORNELIA DE LANGE SYNDROME 1; CDL1
164210 OCULOAURICULOVERTEBRAL DYSPLASIA
#215100
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 1;
RCDP1
*602917
DOWN SYNDROME CANDIDATE REGION 1; DSCR1
#603596
POLYDACTYLY
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