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Unified Medical Language System (UMLS)

OMIM (OMIM) - Statistics


Semantic Type Distribution

Semantic Type IDSemantic Type NameCount Percentage Distribution
T033Finding4487744.8
T028Gene or Genome4240242.3
T047Disease or Syndrome96869.7

Term Type Counts

Term TypeExpanded FormCount
PTCSPreferred Clinical Synopsis49645
ACRAcronym33819
ETALEntry Term Alias31540
PTAVPreferred Allelic Variant26418
PTDesignated preferred name24144
PHENOPhenotype8203
ETEntry term2401
PHENO_ETPhenotype entry term1386
HTHierarchical term78

Attribute Counts

Attribute TypeExpanded FormCount
GENESYMBOLGene Symbol50926
MIMTYPEMEANINGOMIM MimType Meaning24144
MIMTYPEVALUEOMIM MimType Value24144
MIMTYPEOMIM Entry Type24144
GENELOCUSGene Locus21151
MOVED_FROMMoved from1231

Relationship Counts

Relation Name/Additional LabelExpanded FormCount
RO/manifestation_ofhas relationship other than synonymous, narrower, or broader/Manifestation of101057
RO/has_manifestationhas relationship other than synonymous, narrower, or broader/Has manifestation101057
PAR/has parent relationship in a Metathesaurus source vocabulary /Empty relationship attribute51768
CHD/has child relationship in a Metathesaurus source vocabulary /Empty relationship attribute51768
SY/expanded_form_ofsource asserted synonymy./Expanded form of33819
SY/has_expanded_formsource asserted synonymy./Has expanded form33819
RQ/alias_ofrelated and possibly synonymous./Alias_of31540
RQ/has_aliasrelated and possibly synonymous./Has alias31540
RO/has_phenotypehas relationship other than synonymous, narrower, or broader/Has phenotype28238
RO/phenotype_ofhas relationship other than synonymous, narrower, or broader/Phenotype of28238
RQ/has_allelic_variantrelated and possibly synonymous./Has allelic variant26418
RQ/allelic_variant_ofrelated and possibly synonymous./Allelic Variant of26418
RO/inheritance_type_ofhas relationship other than synonymous, narrower, or broader/Inheritance type of5142
RO/has_inheritance_typehas relationship other than synonymous, narrower, or broader/Has inheritance type5142

Definition Count

Count
0

Source Overlap

Source# Concepts Sharing Atom/# Total ConceptsPercentage Distribution
HGNC15593/9999715.6
MSH7924/999977.9
NCI7541/999977.5
SNOMEDCT_US6276/999976.3
SCTSPA6044/999976.0
HPO5469/999975.5
RCD4353/999974.4
NCI_NCI-HGNC4415/999974.4
MDRJPN3826/999973.8
CHV3830/999973.8
MDR3834/999973.8
MDRCZE3834/999973.8
MDRDUT3834/999973.8
MDRFRE3834/999973.8
MDRGER3834/999973.8
MDRHUN3834/999973.8
MDRITA3834/999973.8
MDRPOR3834/999973.8
MDRSPA3834/999973.8
SNMI3594/999973.6
MEDCIN3619/999973.6
ICPC2ICD10ENG2669/999972.7
MSHFRE2558/999972.6
MSHCZE2460/999972.5
SNM2461/999972.5
MSHNOR2471/999972.5
MSHITA2375/999972.4
MSHGER2394/999972.4
MSHSPA2293/999972.3
MSHPOR2304/999972.3
ICPC2ICD10DUT1991/999972.0
MSHDUT1903/999971.9
ICD10CM1912/999971.9
DXP1775/999971.8
MSHPOL1828/999971.8
MSHRUS1828/999971.8
MSHSWE1828/999971.8
MSHFIN1691/999971.7
MSHJPN1723/999971.7
NDFRT1732/999971.7
CCPSS1639/999971.6
NCI_NICHD1420/999971.4
MTHICD91297/999971.3
LNC1151/999971.2
COSTAR1167/999971.2
CST1195/999971.2
CSP1222/999971.2
ICD10AM1059/999971.1
ICPC2P1079/999971.1
WHOFRE1110/999971.1
WHOPOR1115/999971.1
WHO1124/999971.1