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Unified Medical Language System® (UMLS®)

2012AB Online Mendelian Inheritance in Man Source Information

Counts

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Term Type Description Count (MRCONSO.RRF)
SYN Designated alias 47468
PTCS Preferred Clinical Synopsis 30672
ACR Acronym 28166
PT Designated preferred name 21199
PTAV Preferred Allelic Variant 19190
ET Entry term 2509
ETAV Entry Term Allelic Variant 1309
HT Hierarchical term 78

Notes

  • A term type indicates the role an atom plays in its source
  • An atom is the smallest unit of naming in a source; that is, a specific string with specific code values and identifiers from a specific source.
  • Every atom has a separate row in MRCONSO.RRF. Every atom is assigned a term type.
  • Term types are assigned based on source documentation or NLM understanding of the source.
  • Sample data are provided for every term type in the source (see below).
  • See Metathesaurus Documentation for a list of all term type abbreviations and their full names.
  • See Metathesaurus Documentation for a list of sources and their associated term types, listed in default order of precedence.
  • See Section 2.3 of the UMLS Reference Manual for more information on terms and term types in the UMLS Metathesaurus.

Sample Data

SYN

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CUI AUI LUI SUI SDUI CODE STR
C1422069 A11951439 L6474523 S7510781 610288 610288 GOLGIN LINKED TO PML
C1826320 A11965997 L6360840 S7296561 609882 609882 M96
C1421951 A11966013 L1226109 S7533567 609852 609852 MIX
C1419388 A11937485 L6510177 S7555253 609592 609592 RAS-LIKE PROTEIN EXPRESSED IN NEURONS
C1416623 A11980794 L6363758 S7286344 609024 609024 ERD2.2
C1427270 A12023771 L6476073 S7525134 608920 608920 KIAA1457
C1538063 A11938141 L5179295 S7495024 608667 608667 DELANGIN
C1413843 A11995744 L6503518 S7491660 608508 608508 CYTOCHROME b LIGHT CHAIN
C1837971 A11923771 L6462723 S7495303 608478 608478 AFLATOXIN B1-ALDEHYDE REDUCTASE 3

PTCS

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CUI AUI LUI SUI SDUI CODE STR
C1857695 A11922467 L6480517 S7468692 MTHU000120 MTHU000120 Spontaneous, recurrent epistaxis (onset childhood)
C1837607 A11952514 L6506831 S7523307 MTHU001894 MTHU001894 Increased body temperature, episodic, in some patients
C1837717 A11995658 L6440032 S7474075 MTHU001995 MTHU001995 Thick and elongated superior cerebellar peduncles
C1837775 A12022604 L6483581 S7498222 MTHU002052 MTHU002052 Deficient ribose-S-phosphate isomerase (RPI) in fibroblasts
C1842488 A12024286 L6500198 S7557829 MTHU002440 MTHU002440 Affected mother has normal plasma zinc levels and is not zinc-deficient
C1842908 A11981573 L6499754 S7553365 MTHU002711 MTHU002711 Partial laminin alpha-2 deficiency results in milder phenotype
C0235946 A12024507 L0284045 S7493877 MTHU002761 MTHU002761 Cortical atrophy
C1843108 A12022543 L6429235 S7467783 MTHU002799 MTHU002799 Short hands
C1843174 A11924316 L6479152 S7554644 MTHU002842 MTHU002842 Pyramidal features

ACR

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CUI AUI LUI SUI SDUI CODE STR
C1417038 A11936971 L6365888 S7303664 610550 610550 SAMS1
C1826501 A11979978 L6502513 S7482134 610463 610463 C6ORF68
C1427877 A11994541 L6438499 S7558061 610462 610462 RTN4RL2
C1423070 A12008704 L6457050 S7538683 610272 610272 NDAP
C1413923 A11965878 L6462611 S7494285 610106 610106 DBNL
C1428997 A11951577 L6449976 S7471663 610005 610005 TNIK
C1423823 A11994820 L6456742 S7536057 609928 609928 MYH7B
C1427862 A12022535 L6497422 S7531001 609926 609926 MBD3
C1420148 A11922852 L6479892 S7561792 609839 609839 SLC24A3

PT

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CUI AUI LUI SUI SDUI CODE STR
C1853136 A11994401 L6467343 S7539667 610717 610717 NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY
C1426024 A12008539 L5074391 S7471564 610669 610669 TNFAIP3-INTERACTING PROTEIN 2
C1425681 A12008651 L5082303 S7557690 610436 610436 ROTATIN
C1835912 A12008686 L6432356 S7498197 610333 610333 AICARDI-GOUTIERES SYNDROME 4
C1864968 A11994806 L5498679 S7494704 609941 609941 DEAFNESS, AUTOSOMAL RECESSIVE 51
C1857853 A12023177 L6502669 S7483739 609741 609741 CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2
C1864761 A11922941 L6470402 S7471013 609698 609698 THYROID HORMONE METABOLISM, ABNORMAL
C1864995 A11966142 L6476265 S7527178 609630 609630 LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 1
C1412110 A11951855 L0253200 S7486621 609575 609575 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN

PTAV

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CUI AUI LUI SUI SDUI CODE STR
C1836977 A11923377 L6469342 S7559489 609017.0001 609017.0001 SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2, 2-BP DEL
C1843117 A11996203 L6492084 S7479828 607764.0001 607764.0001 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1, 2-BP DEL, NT1057
C1846325 A11982000 L6477591 S7539344 607379.0015 607379.0015 NEUROFIBROMATOSIS, TYPE II, GLU527TER
C1847134 A11968038 L6453091 S7501402 606933.0011 606933.0011 ALBINISM, OCULOCUTANEOUS, TYPE IA, CYS89ARG
C1847666 A12025388 L6455871 S7527302 606686.0002 606686.0002 LEUKOENCEPHALOPATHY WITH VANISHING WHITE MATTER, ASN208TYR
C1853679 A11968595 L6506105 S7516118 606118.0002 606118.0002 HERMANSKY-PUDLAK SYNDROME 3, 1303, G-A, +1
C1854624 A11983504 L6502960 S7486387 605145.0006 605145.0006 CHONDROCALCINOSIS 2, MET48THR
C1858096 A12012193 L6452956 S7500074 604831.0003 604831.0003 ELLIS-VAN CREVELD SYNDROME, ARG340TER
C1858347 A12008242 L6436177 S7535884 604457.0004 604457.0004 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO, C-T, INTRON 6

ET

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CUI AUI LUI SUI SDUI CODE STR
C1857982 A11980303 L6439601 S7469862 609758 609758 TCBA1/SUSP1 FUSION GENE
C1836230 A11980531 L6475369 S7518343 609423 609423 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO
C1837749 A11981076 L6436900 S7542553 608616 608616 OBSCURIN-RHOGEF
C1838031 A11995783 L6493146 S7489796 608441 608441 CPG2B ISOFORM
C1417780 A11998257 L6473988 S7505676 604643 604643 FMRF-AMIDE-LIKE PEPTIDE PRECURSOR
C1838527 A11926853 L6486746 S7528265 603830 603830 LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO
C1866119 A12028476 L6458092 S7548675 601859 601859 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA
C0758959 A11942626 L6504833 S7503812 601762 601762 FADD-LIKE ICE 2
C1866505 A11971368 L6460483 S7520768 601675 601675 ICHTHYOSIS, CONGENITAL, WITH TRICHOTHIODYSTROPHY

ETAV

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CUI AUI LUI SUI SDUI CODE STR
C2700516 A11952628 L6444284 S7516065 608507.0009 608507.0009 HEREDITARY MOTOR AND SENSORY NEUROPATHY VI
C1835902 A11996381 L6430500 S7480746 607585.0005 607585.0005 BREAST CANCER, SUSCEPTIBILITY TO
C2697380 A11967721 L0266574 S7545567 607393.0004 607393.0004 PARATHYROID CARCINOMA
C2720288 A11968138 L6494889 S7506132 606829.0001 606829.0001 FRIEDREICH ATAXIA WITH RETAINED REFLEXES
C2697371 A12025543 L0266833 S0348317 606463.0001 606463.0001 GAUCHER DISEASE, TYPE I
C2700491 A11968385 L0388407 S7508362 606463.0009 606463.0009 GAUCHER DISEASE, TYPE III
C2700491 A11997251 L0388407 S7508362 606463.0026 606463.0026 GAUCHER DISEASE, TYPE III
C2720322 A11939764 L6431259 S7487919 606350.0006 606350.0006 COENZYME Q10 DEFICIENCY
C2697471 A12025727 L6480135 S7563993 606158.0013 606158.0013 SPINAL MUSCULAR ATROPHY, DISTAL, TYPE V

HT

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CUI AUI LUI SUI SDUI CODE STR
C0042066 A11979833 L0846632 S6127067 MTHU000003 MTHU000003 GENITOURINARY
C0022646 A11994398 L0022646 S0055472 MTHU000004 MTHU000004 Kidneys
C1853126 A12008495 L6466756 S7533926 MTHU000008 MTHU000008 MOLECULAR BASIS
C0205395 A11965534 L0249051 S4274060 MTHU000010 MTHU000010 MISCELLANEOUS
C1853129 A12022673 L6476160 S7526066 MTHU000012 MTHU000012 LABORATORY ABNORMALITIES
C0728826 A11922405 L0308351 S7521879 MTHU000015 MTHU000015 INHERITANCE
C0460004 A11936878 L0306019 S0375870 MTHU000019 MTHU000019 HEAD AND NECK
C0015392 A11936879 L0015392 S0040054 MTHU000020 MTHU000020 Eyes
C1853163 A11936895 L6447886 S7550428 MTHU000025 MTHU000025 PRENATAL MANIFESTATIONS