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Unified Medical Language System® (UMLS®)

2012AB Online Mendelian Inheritance in Man Source Information

Counts

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Attribute Name Description Count (MRSAT.RRF)
GENESYMBOL Gene Symbol 36564
MIMTYPE OMIM Entry Type 21199
MIMTYPEMEANING OMIM MimType Meaning 21199
MIMTYPEVALUE OMIM MimType Value 21199
GENELOCUS Gene Locus 16615
MOVED_FROM Moved from 951

Notes

  • Attributes included every discrete piece of information about a concept, an atom, or a relationship that is not part of the basic Metathesaurus concept structure or distributed in one of the relationship files.
  • Attribute Names (ATN) are based on source documentation or NLMs understanding of the source.
  • Sample attribute values (ATV) are provided for each ATN in the source.
  • Sample data highlight examples of ATNs and Attribute Values (ATV) in MRSAT.RRF.
  • See Metathesaurus Documentation for a complete list of attribute names.
  • See Section 2.5 of the UMLS Reference Manual for more information on attributes in the UMLS Metathesaurus.

Sample Data

GENESYMBOL

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CUI METAUI LUI SUI STYPE CODE ATN ATV STR
C1539230 A11936950 L0808061 S7495146 SDUI 610588 GENESYMBOL DDN DENDRIN
C1418351 A11982801 L6489226 S7551911 SDUI 606291 GENESYMBOL PCDHGA4 PROTOCADHERIN-GAMMA, SUBFAMILY A, MEMBER 4
C1414055 A11939800 L5074105 S7496201 SDUI 606271 GENESYMBOL DISC2 DISRUPTED IN SCHIZOPHRENIA 2
C1333653 A11925429 L3549919 S7511267 SDUI 606203 GENESYMBOL GAB2 GRB2-ASSOCIATED BINDING PROTEIN 2
C1332020 A12011855 L6435406 S7527899 SDUI 605421 GENESYMBOL ADAMTS9 A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 9
C1417747 A12027631 L0313295 S7539461 SDUI 603106 GENESYMBOL NNAT NEURONATIN
C1418543 A11999919 L0787810 S7547917 SDUI 602026 GENESYMBOL PHYH PHYTANOYL-CoA HYDROXYLASE
C1412587 A11928095 L6481590 S7479187 SDUI 601913 GENESYMBOL ASNA1 arsA ARSENITE TRANSPORTER, ATP-BINDING, E. COLI, HOMOLOG OF, 1
C1418643 A11942967 L6499308 S7548772 SDUI 601282 GENESYMBOL PLEC1 PLECTIN 1
C1413873 A11928680 L6472459 S7491621 SDUI 601129 GENESYMBOL CYP2C8 CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 8
C1413769 A11943320 L6482849 S7491332 SDUI 600824 GENESYMBOL CSRP3 CYSTEINE- AND GLYCINE-RICH PROTEIN 3
C1848533 A12016549 L6481292 S7476438 SDUI 277460 GENESYMBOL TTPA VITAMIN E, FAMILIAL ISOLATED DEFICIENCY OF
C1855577 A12017322 L6494432 S7501497 SDUI 245340 GENESYMBOL SLC16A1 ERYTHROCYTE LACTATE TRANSPORTER DEFECT
C1421455 A12032651 L0158006 S7476256 SDUI 192977 GENESYMBOL VLDLR VERY LOW DENSITY LIPOPROTEIN RECEPTOR
C1416742 A12019992 L1863321 S7524848 SDUI 148040 GENESYMBOL KRT5 KERATIN 5
C1415981 A12034510 L6465522 S7521607 SDUI 147130 GENESYMBOL IGHG4 IMMUNOGLOBULIN Gm4
C1415556 A11963148 L0473652 S1750891 SDUI 142570 GENESYMBOL HK3 HEXOKINASE 3
C1413855 A11993219 L6482881 S7491641 SDUI 118485 GENESYMBOL CYP11A CYTOCHROME P450, SUBFAMILY XIA, POLYPEPTIDE 1
C1420123 A12007676 L1856414 S7563012 SDUI 109190 GENESYMBOL SLC1A5 SOLUTE CARRIER FAMILY 1 (NEUTRAL AMINO ACID TRANSPORTER), MEMBER 5

MIMTYPE

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CUI METAUI LUI SUI STYPE CODE ATN ATV STR
C1538279 A11951336 L6465290 S7519402 SDUI 610500 MIMTYPE 1 ANKYRIN REPEAT AND KH DOMAIN-CONTAINING PROTEIN 1
C1539967 A12008800 L6470227 S7469193 SDUI 610096 MIMTYPE 1 T-CELL IMMUNOGLOBULIN AND MUCIN DOMAINS-CONTAINING PROTEIN 4
C1824774 A11994790 L6383078 S7488567 SDUI 609996 MIMTYPE 1 COLLAGEN, TYPE XXVIII, ALPHA-1
C1423729 A11994924 L6492832 S7486611 SDUI 609756 MIMTYPE 1 CHRNA7/FAM7A FUSION GENE
C1415066 A11951080 L6453772 S7508214 SDUI 609342 MIMTYPE 1 GASTRIC INTRINSIC FACTOR
C1836505 A12023508 L6498025 S7536468 SDUI 609257 MIMTYPE 5 MYOPIA 8
C0342786 A11995394 L1346813 S7528303 SDUI 609016 MIMTYPE 3 LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
C1425201 A11995734 L6485481 S7515942 SDUI 608521 MIMTYPE 1 HEPATITIS B VIRUS X PROTEIN-INTERACTING PROTEIN
C1421348 A11996066 L6501778 S7474742 SDUI 607990 MIMTYPE 1 UBIQUITIN-LIKE PROTEIN CONTAINING PHD AND RING FINGER DOMAINS 1
C1424230 A11939239 L2306283 S7543950 SDUI 607038 MIMTYPE 1 OTOANCORIN
C1847163 A11982350 L6437433 S7547584 SDUI 606905 MIMTYPE 1 PHOSPHATIDYLINOSITOL 3,4,5-TRISPHOSPHATE-DEPENDENT RAC EXCHANGER 1
C1538758 A11939340 L5496742 S7553045 SDUI 606902 MIMTYPE 1 PYGOPUS, DROSOPHILA, HOMOLOG OF, 1
C1332093 A12025236 L5076574 S7482684 SDUI 606878 MIMTYPE 1 ACIDIC LEUCINE-RICH NUCLEAR PHOSPHOPROTEIN 32 FAMILY, MEMBER D
C1540295 A11997024 L5499159 S7484300 SDUI 606786 MIMTYPE 1 CD300C ANTIGEN
C1416456 A11997285 L5078887 S7522121 SDUI 606414 MIMTYPE 1 INSULIN-LIKE 6
C1853733 A11968616 L6434042 S7514329 SDUI 606069 MIMTYPE 3 HEMOCHROMATOSIS, TYPE 4
C1422283 A11997508 L5078679 S7528817 SDUI 606038 MIMTYPE 1 LYMPHOCYTE ANTIGEN 6 COMPLEX, LOCUS G6D
C1853833 A11983028 L6457759 S7545700 SDUI 605909 MIMTYPE 3 PARKINSON DISEASE 6, AUTOSOMAL RECESSIVE EARLY-ONSET
C1539292 A12011866 L6503997 S7495961 SDUI 605418 MIMTYPE 1 DICKKOPF-LIKE 1

MIMTYPEMEANING

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CUI METAUI LUI SUI STYPE CODE ATN ATV STR
C1835845 A12008484 L6497698 S7533434 SDUI 610773 MIMTYPEMEANING Phenotype description, molecular basis known. MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY
C1417230 A11936860 L6456526 S7533934 SDUI 610742 MIMTYPEMEANING Gene with known sequence MOLONEY LEUKEMIA VIRUS 10, MOUSE, HOMOLOG OF
C1826831 A11965893 L6438173 S7554913 SDUI 610089 MIMTYPEMEANING Gene with known sequence RAD50-INTERACTING PROTEIN 1
C1415258 A11937256 L5079343 S7507384 SDUI 609949 MIMTYPEMEANING Gene with known sequence G PROTEIN-COUPLED RECEPTOR 77
C1426230 A11980543 L6434223 S7515874 SDUI 609407 MIMTYPEMEANING Gene with known sequence HEPARAN SULFATE 3-O-SULFOTRANSFERASE 5
C1428077 A11937636 L5112074 S7525114 SDUI 609367 MIMTYPEMEANING Gene with known sequence KIAA1279 GENE
C1428213 A12009215 L6448450 S7555515 SDUI 609348 MIMTYPEMEANING Gene with known sequence RECEPTOR EXPRESSION-ENHANCING PROTEIN 3
C1426460 A12022571 L5076612 S7502902 SDUI 609103 MIMTYPEMEANING Gene with known sequence F-BOX ONLY PROTEIN 33
C1539485 A12009392 L5497355 S7502852 SDUI 609084 MIMTYPEMEANING Gene with known sequence F-BOX AND LEUCINE-RICH REPEAT PROTEIN 18
C1837646 A11995644 L6436379 S7537584 SDUI 608638 MIMTYPEMEANING Mendelian phenotype or locus, molecular basis unknown. ASPERGER SYNDROME, SUSCEPTIBILITY TO, 1
C1427896 A11995851 L6509034 S7544017 SDUI 608337 MIMTYPEMEANING Gene with known sequence OTU DOMAIN-CONTAINING UBIQUITIN ALDEHYDE-BINDING PROTEIN 1
C1843366 A11981772 L5081021 S7540053 SDUI 607625 MIMTYPEMEANING Phenotype description, molecular basis known. NIEMANN-PICK DISEASE, TYPE C2
C1413248 A11996484 L6503121 S7487905 SDUI 607465 MIMTYPEMEANING Gene with known sequence CODANIN 1
C1413393 A12010603 L6482319 S7486199 SDUI 607416 MIMTYPEMEANING Gene with known sequence CHL1, MOUSE, HOMOLOG OF
C1425474 A11924559 L6455341 S7522451 SDUI 607401 MIMTYPEMEANING Gene with known sequence INTERLEUKIN 28A
C1424593 A12010801 L1751767 S7565623 SDUI 607094 MIMTYPEMEANING Gene with known sequence SUPPRESSOR OF CYTOKINE SIGNALING 5
C1422577 A11968046 L6481246 S7475916 SDUI 606932 MIMTYPEMEANING Gene with known sequence VACUOLAR PROTEIN SORTING 29, YEAST, HOMOLOG OF
C1422626 A12025470 L6509816 S7551753 SDUI 606584 MIMTYPEMEANING Gene with known sequence PROTEIN-TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 23
C1421586 A11968370 L6491975 S7478830 SDUI 606480 MIMTYPEMEANING Gene with known sequence ZINC METALLOPROTEINASE STE24

MIMTYPEVALUE

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CUI METAUI LUI SUI STYPE CODE ATN ATV STR
C1822750 A11979795 L6363178 S7563141 SDUI 610822 MIMTYPEVALUE star SOLUTE CARRIER FAMILY 25, MEMBER 41
C1853120 A12008493 L6446832 S7540579 SDUI 610733 MIMTYPEVALUE pound NOONAN SYNDROME 4
C1428813 A11951547 L6432708 S7501445 SDUI 610072 MIMTYPEVALUE star ERMIN
C1864965 A11994804 L6430457 S7480436 SDUI 609945 MIMTYPEVALUE none BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA
C1853354 A11966047 L6499070 S7546518 SDUI 609796 MIMTYPEVALUE pound PEELING SKIN SYNDROME, ACRAL TYPE
C1539844 A11966433 L5496745 S7564168 SDUI 609216 MIMTYPEVALUE star SPIRE, DROSOPHILA, HOMOLOG OF, 1
C1539494 A12009381 L6432849 S7502909 SDUI 609107 MIMTYPEVALUE star F-BOX ONLY PROTEIN 40
C1422089 A11966501 L5075013 S7502893 SDUI 609097 MIMTYPEVALUE star F-BOX ONLY PROTEIN 24
C1422637 A11938220 L6510294 S7556476 SDUI 608575 MIMTYPEVALUE star RETINOL DEHYDROGENASE 8
C1824410 A11981199 L6457238 S7540603 SDUI 608409 MIMTYPEVALUE star NORMAL MUCOSA OF ESOPHAGUS-SPECIFIC GENE 1
C1425696 A11995928 L5073464 S7484680 SDUI 608201 MIMTYPEVALUE star CDK5 REGULATORY SUBUNIT-ASSOCIATED PROTEIN 2
C1425670 A11938594 L5071413 S7564208 SDUI 607993 MIMTYPEVALUE star SPLICING FACTOR, ARGININE/SERINE-RICH, 14
C1413101 A11996250 L6502556 S7482595 SDUI 607708 MIMTYPEVALUE star CALCIUM/CALMODULIN-DEPENDENT PROTEIN KINASE II-DELTA
C1417245 A11996824 L0027021 S1252466 SDUI 606989 MIMTYPEVALUE star MYELOPEROXIDASE
C1414179 A11968194 L5069396 S7497060 SDUI 606758 MIMTYPEVALUE star DUAL OXIDASE 1
C1419357 A11954409 L5076314 S7555991 SDUI 605970 MIMTYPEVALUE star RET FINGER PROTEIN-LIKE 3
C1427121 A11997576 L6457860 S7546453 SDUI 605889 MIMTYPEVALUE star PDZ AND LIM DOMAIN PROTEIN 3
C1421879 A12011638 L6506487 S7519629 SDUI 605787 MIMTYPEVALUE star ANKYRIN REPEAT-CONTAINING PROTEIN, FAMILY A, MEMBER 2
C1826455 A12026124 L6387713 S7540183 SDUI 605551 MIMTYPEVALUE star NITRIC OXIDE SYNTHASE 1 (NEURONAL) ADAPTOR PROTEIN

GENELOCUS

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CUI METAUI LUI SUI STYPE CODE ATN ATV STR
C1540102 A11965539 L6460227 S7470287 SDUI 610709 GENELOCUS 5q22.2 TESTIS-SPECIFIC SERINE/THREONINE KINASE 1
C1864879 A12022824 L6461581 S7483782 SDUI 610425 GENELOCUS 22q11.2-q13.1 CATARACT, LAMELLAR 2
C1825828 A11980210 L6387037 S7486864 SDUI 609972 GENELOCUS 14q24.3 ACYL-CoA THIOESTERASE 2
C1823581 A11937290 L6359180 S7474741 SDUI 609867 GENELOCUS 5q33.3 UBIQUITIN-LIKE DOMAIN-CONTAINING CTD PHOSPHATASE 1
C1420044 A11994858 L0588756 S7565467 SDUI 609845 GENELOCUS 3q25-q26 SUCRASE-ISOMALTASE
C1538686 A11937863 L6498993 S7545849 SDUI 609059 GENELOCUS 11p15.5 PATATIN-LIKE PHOSPHOLIPASE DOMAIN-CONTAINING PROTEIN 2
C1427465 A11980825 L6441507 S7488931 SDUI 608974 GENELOCUS 12p13.31 COMPLEMENT COMPONENT C1r-LIKE PROTEIN
C1843476 A11981811 L6449924 S7471302 SDUI 607601 GENELOCUS 19p13.3 TIR DOMAIN-CONTAINING ADAPTOR MOLECULE 1
C1424925 A11953611 L5076835 S7526181 SDUI 607110 GENELOCUS 22q13 APOLIPOPROTEIN B mRNA-EDITING ENZYME, CATALYTIC POLYPEPTIDE-LIKE 3B
C1425206 A11925108 L5079477 S7472450 SDUI 606678 GENELOCUS 2q37 TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, SUBFAMILY M, MEMBER 8
C1423006 A12025526 L5072269 S7509901 SDUI 606485 GENELOCUS 15q22.1 GLUTAMATE RECEPTOR, IONOTROPIC, N-METHYL D-ASPARTATE-LIKE 1A
C1418358 A12011338 L6489227 S7551919 SDUI 606300 GENELOCUS 5q31 PROTOCADHERIN-GAMMA, SUBFAMILY B, MEMBER 2
C1422656 A11925412 L5066402 S7469508 SDUI 606225 GENELOCUS 1p36 TASTE RECEPTOR TYPE 1, MEMBER 1
C1414604 A11997599 L5074916 S7505182 SDUI 605831 GENELOCUS 19p13.3 FIBROBLAST GROWTH FACTOR 22
C1853965 A11997614 L6462721 S7495265 SDUI 605803 GENELOCUS 1q21 DERMATITIS, ATOPIC, 2
C1425639 A11983244 L5077599 S7556075 SDUI 605566 GENELOCUS 22q11 RETICULON 4 RECEPTOR
C1421944 A12026137 L5069860 S7527738 SDUI 605518 GENELOCUS 2p21 LIPIN 1
C1419759 A11940421 L5081385 S7556904 SDUI 605224 GENELOCUS 4q RHODOPSIN HOMOLOG, RETINAL PIGMENT EPITHELIUM-DERIVED
C1421976 A12012156 L6499221 S7548058 SDUI 604918 GENELOCUS 7q11.23-q21.1 PICCOLO, MOUSE, HOMOLOG OF

MOVED_FROM

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CUI METAUI LUI SUI STYPE CODE ATN ATV STR
C1416990 A11999928 L6456146 S7530236 SDUI 602022 MOVED_FROM 602222 MAL-LIKE
C1426173 A11967203 L6480017 S7562765 SDUI 608048 MOVED_FROM 607266 SNF2, LINKER HISTONE, PHD FINGER, RING FINGER, AND HELICASE DOMAINS-CONTAINING PROTEIN
C1413347 A12035981 L6461502 S7483020 SDUI 114835 MOVED_FROM 114836 CARBOXYLESTERASE 1
C1822777 A11988084 L6387906 S7565319 SDUI 300040 MOVED_FROM 600476 STRUCTURAL MAINTENANCE OF CHROMOSOMES 1A
C1845668 A12030650 L6437642 S7549474 SDUI 300388 MOVED_FROM 260980 POLYMICROGYRIA, BILATERAL PERISYLVIAN
C1419946 A12029005 L1862194 S7560200 SDUI 601124 MOVED_FROM 601923 SEMAPHORIN 3F
C1418927 A12018889 L6447977 S7551469 SDUI 177060 MOVED_FROM 601864 PROTEIN KINASE C SUBSTRATE, 80-KD, HEAVY CHAIN
C1415545 A11928550 L5068631 S7516748 SDUI 601314 MOVED_FROM 601640 HISTIDINE TRIAD NUCLEOTIDE-BINDING PROTEIN 1
C1856738 A11989221 L6484320 S7505279 SDUI 228900 MOVED_FROM 223610 FIBULAR HYPOPLASIA AND COMPLEX BRACHYDACTYLY
C1418491 A11933318 L6437444 S7547707 SDUI 171860 MOVED_FROM 172300 PHOSPHOFRUCTOKINASE, LIVER TYPE
C1419807 A11933928 L6469960 S7565616 SDUI 154280 MOVED_FROM 190190 SUPPRESSOR OF ANCHORAGE INDEPENDENCE 1
C0393576 A11975308 L0782505 S7486517 SDUI 200150 MOVED_FROM 100500 CHOREOACANTHOCYTOSIS
C1412467 A12036357 L5073183 S7513098 SDUI 104776 MOVED_FROM 182879 AMYLOID BETA A4 PRECURSOR-LIKE PROTEIN 2
C1333255 A12035480 L0121639 S7496770 SDUI 126453 MOVED_FROM 126448 DOPAMINE RECEPTOR D5
C0346104 A11973120 L0521793 S7474275 SDUI 301845 MOVED_FROM 109390 BAZEX SYNDROME
C1417112 A11986543 L6383419 S7532146 SDUI 600535 MOVED_FROM 600313 MESENCHYME HOMEOBOX 2
C1417839 A11998361 L5072863 S7541257 SDUI 604453 MOVED_FROM 604560 NUCLEAR RECEPTOR SUBFAMILY 5, GROUP A, MEMBER 2
C1834523 A12000147 L6497841 S7534899 SDUI 601680 MOVED_FROM 108130 ARTHROGRYPOSIS, DISTAL, TYPE 2B
C1419120 A11942676 L5074502 S7551786 SDUI 601698 MOVED_FROM 601986 PROTEIN-TYROSINE PHOSPHATASE, RECEPTOR-TYPE, N, POLYPEPTIDE 2