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OMIM (Online Mendelian Inheritance in Man) - Statistics


Semantic Type Distribution

Semantic Type IDSemantic Type NameCount Percentage Distribution
T028Gene or Genome5121149.0
T033Finding3612534.6
T047Disease or Syndrome1230711.8
T019Congenital Abnormality14501.4

Term Type Counts

Term TypeExpanded FormCount
PTCSPreferred Clinical Synopsis45314
ACRAcronym39181
ETALEntry Term Alias36563
PTAVPreferred Allelic Variant33898
PTDesignated preferred name27024
PHENOPhenotype9505
ETEntry term2381
PHENO_ETPhenotype entry term1412
HTHierarchical term75

Attribute Counts

Attribute TypeExpanded FormCount
GENESYMBOLGene Symbol63283
MIMTYPEVALUEOMIM MimType Value27024
MIMTYPEMEANINGOMIM MimType Meaning27024
MIMTYPEOMIM Entry Type27024
GENELOCUSGene Locus24719
SOSScope Statement20877
QUALIFIERhas qualifer15971
MOVED_FROMMoved from1381

Relationship Counts

Relation Name/Additional LabelExpanded FormCount
RO/has_manifestationhas relationship other than synonymous, narrower, or broader/Has manifestation132759
RO/manifestation_ofhas relationship other than synonymous, narrower, or broader/Manifestation of132759
CHD/has child relationship in a Metathesaurus source vocabulary /Empty relationship attribute47978
PAR/has parent relationship in a Metathesaurus source vocabulary /Empty relationship attribute47978
SY/expanded_form_ofsource asserted synonymy./Expanded form of39181
SY/has_expanded_formsource asserted synonymy./Has expanded form39181
RQ/has_aliasrelated and possibly synonymous./Has alias36563
RQ/alias_ofrelated and possibly synonymous./Alias_of36563
RO/has_phenotypehas relationship other than synonymous, narrower, or broader/Has phenotype35102
RO/phenotype_ofhas relationship other than synonymous, narrower, or broader/Phenotype of35102
RQ/has_allelic_variantrelated and possibly synonymous./Has allelic variant33898
RQ/allelic_variant_ofrelated and possibly synonymous./Allelic Variant of33898
RO/inheritance_type_ofhas relationship other than synonymous, narrower, or broader/Inheritance type of7233
RO/has_inheritance_typehas relationship other than synonymous, narrower, or broader/Has inheritance type7233
RQ/has_entry_termrelated and possibly synonymous./Has entry term2381
RQ/entry_term_ofrelated and possibly synonymous./Entry term of2381

Definition Count

Count
0

Source Overlap

Source# Concepts Sharing Atom/# Total ConceptsPercentage Distribution
HGNC16934/10435016.2
NCI9651/1043509.2
SNOMEDCT_US8212/1043507.9
MSH8279/1043507.9
SCTSPA8094/1043507.8
HPO6427/1043506.2
MDRJPN4987/1043504.8
MDR4997/1043504.8
MDRARA4997/1043504.8
MDRBPO4997/1043504.8
MDRCZE4997/1043504.8
MDRDUT4997/1043504.8
MDRFRE4997/1043504.8
MDRGER4997/1043504.8
MDRGRE4997/1043504.8
MDRHUN4997/1043504.8
MDRITA4997/1043504.8
MDRKOR4997/1043504.8
MDRLAV4997/1043504.8
MDRPOL4997/1043504.8
MDRPOR4997/1043504.8
MDRRUS4997/1043504.8
MDRSPA4997/1043504.8
MDRSWE4997/1043504.8
MEDCIN4906/1043504.7
RCD4954/1043504.7
CHV4402/1043504.2
SNMI4009/1043503.8
ORPHANET3485/1043503.3
ICPC2ICD10ENG3066/1043502.9
MSHCZE3071/1043502.9
MSHFRE2888/1043502.8
MSHGER2696/1043502.6
SNM2713/1043502.6
MSHSPA2725/1043502.6
MSHPOR2753/1043502.6
MSHNOR2758/1043502.6
MSHITA2611/1043502.5
MSHSWE2464/1043502.4
ICPC2ICD10DUT2329/1043502.2
ICD10CM2235/1043502.1
MSHPOL2072/1043502.0
MSHRUS2074/1043502.0
MSHDUT2091/1043502.0
DXP1960/1043501.9
MSHFIN1852/1043501.8
MSHJPN1890/1043501.8
CCPSS1907/1043501.8
MTHICD91449/1043501.4
LNC1505/1043501.4
COSTAR1307/1043501.3
CSP1321/1043501.3
CST1349/1043501.3
ICPC2P1233/1043501.2
WHOFRE1260/1043501.2
WHOPOR1264/1043501.2
WHO1273/1043501.2
WHOSPA1105/1043501.1
ICD10AM1165/1043501.1
WHOGER1173/1043501.1