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Unified Medical Language System (UMLS)

OMIM (Online Mendelian Inheritance in Man) - Statistics


Semantic Type Distribution

Semantic Type IDSemantic Type NameCount Percentage Distribution
T033Finding4623845.2
T028Gene or Genome4307442.1
T047Disease or Syndrome98429.6

Term Type Counts

Term TypeExpanded FormCount
PTCSPreferred Clinical Synopsis51167
ACRAcronym34382
ETALEntry Term Alias31938
PTAVPreferred Allelic Variant26941
PTDesignated preferred name24403
PHENOPhenotype8360
ETEntry term2396
PHENO_ETPhenotype entry term1385
HTHierarchical term77

Attribute Counts

Attribute TypeExpanded FormCount
GENESYMBOLGene Symbol52130
MIMTYPEMEANINGOMIM MimType Meaning24403
MIMTYPEVALUEOMIM MimType Value24403
MIMTYPEOMIM Entry Type24403
GENELOCUSGene Locus21513
MOVED_FROMMoved from1243

Relationship Counts

Relation Name/Additional LabelExpanded FormCount
RO/has_manifestationhas relationship other than synonymous, narrower, or broader/Has manifestation105341
RO/manifestation_ofhas relationship other than synonymous, narrower, or broader/Manifestation of105341
CHD/has child relationship in a Metathesaurus source vocabulary /Empty relationship attribute53324
PAR/has parent relationship in a Metathesaurus source vocabulary /Empty relationship attribute53324
SY/expanded_form_ofsource asserted synonymy./Expanded form of34382
SY/has_expanded_formsource asserted synonymy./Has expanded form34382
RQ/has_aliasrelated and possibly synonymous./Has alias31938
RQ/alias_ofrelated and possibly synonymous./Alias_of31938
RO/phenotype_ofhas relationship other than synonymous, narrower, or broader/Phenotype of28761
RO/has_phenotypehas relationship other than synonymous, narrower, or broader/Has phenotype28761
RQ/has_allelic_variantrelated and possibly synonymous./Has allelic variant26941
RQ/allelic_variant_ofrelated and possibly synonymous./Allelic Variant of26941
RO/inheritance_type_ofhas relationship other than synonymous, narrower, or broader/Inheritance type of5325
RO/has_inheritance_typehas relationship other than synonymous, narrower, or broader/Has inheritance type5325

Definition Count

Count
0

Source Overlap

Source# Concepts Sharing Atom/# Total ConceptsPercentage Distribution
HGNC15738/10225015.4
MSH7928/1022507.8
NCI7646/1022507.5
SNOMEDCT_US6334/1022506.2
SCTSPA6253/1022506.1
HPO5539/1022505.4
NCI_NCI-HGNC4469/1022504.4
RCD4379/1022504.3
CHV3850/1022503.8
MDRJPN3888/1022503.8
MDR3896/1022503.8
MDRCZE3896/1022503.8
MDRDUT3896/1022503.8
MDRFRE3896/1022503.8
MDRGER3896/1022503.8
MDRHUN3896/1022503.8
MDRITA3896/1022503.8
MDRPOR3896/1022503.8
MDRSPA3896/1022503.8
MEDCIN3683/1022503.6
SNMI3611/1022503.5
ICPC2ICD10ENG2691/1022502.6
MSHNOR2520/1022502.5
MSHCZE2556/1022502.5
MSHFRE2584/1022502.5
MSHGER2422/1022502.4
SNM2473/1022502.4
MSHSPA2323/1022502.3
MSHPOR2333/1022502.3
MSHITA2393/1022502.3
ICPC2ICD10DUT2006/1022502.0
MSHDUT1911/1022501.9
ICD10CM1917/1022501.9
MSHSWE1832/1022501.8
MSHPOL1842/1022501.8
MSHRUS1842/1022501.8
MSHFIN1693/1022501.7
MSHJPN1725/1022501.7
NDFRT1737/1022501.7
DXP1783/1022501.7
CCPSS1650/1022501.6
NCI_NICHD1429/1022501.4
MTHICD91303/1022501.3
CST1202/1022501.2
CSP1229/1022501.2
ICPC2P1084/1022501.1
WHOFRE1116/1022501.1
WHOPOR1121/1022501.1
WHO1130/1022501.1
LNC1165/1022501.1
COSTAR1174/1022501.1