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Details
Link-It Detail - Disease - Macrocephaly
Debug Stats
  • ### Total Build Time: 31 ms 43.197 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 322 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 443 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=16 ms Completed: 16 ms rowSize= 9.374 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 31.859 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Macrocephaly C0221355
Definition (1)
A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME).
Relationships (20)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 18
diso_​to_​phen : 1


Relationships:
none : 4
alias_​of : 1
associated_​with : 1
isa : 4
location_​of : 1
mapped_​to : 8
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO7img Abnormalities, Multiple C0000772
DISO_to_PHEN6img genetic aspects C0017399
DISO_to_DISO5img Complication Aspects C1171258
DISO_to_DISO5img Telangiectasis C0039446
DISO_to_ANATlocation_ofimg Head C0018670
DISO_to_DISOisaimg Acquired Macrocephaly C0877523
DISO_to_DISOmapped_toimg Arthrosis, flat face, hypotonia, short neck and macrocephaly C1855605
DISO_to_DISOmapped_toimg Bagatelle Cassidy syndrome C2931616
DISO_to_DISOisaimg Bannayan-Riley-Ruvalcaba Syndrome C0265326
DISO_to_DISOmapped_toimg Benign familial macrocephaly C0220690
DISO_to_DISOisaimg Congenital Macrocephaly C0877524
DISO_to_DISOassociated_withimg Congenital hypertrophy C0332887
DISO_to_DISOmapped_toimg Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails C2931302
DISO_to_DISOisaimg Fetal macrocephaly C2315627
DISO_to_DISOmapped_toimg Fryns Dereymaeker Haegeman syndrome C2931497
DISO_to_DISOmapped_toimg MACROSOMIA, OBESITY, MACROCEPHALY, AND OCULAR ABNORMALITIES C1834759
DISO_to_DISOpermuted_term_ofimg Macrocephaly C0221355
DISO_to_DISOalias_ofimg Macroencephaly C2720434
DISO_to_DISOmapped_toimg Megalencephaly cutis marmorata telangiectatica congenita C1865285
DISO_to_DISOmapped_toimg Neuhauser syndrome C0796086
Genes (70)

Species:
human : 70
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanD2HGDH728294D-2-hydroxyglutarate dehydrogenase
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanSYT14255928synaptotagmin XIV
img GENERIF, Score=861, Pubmed Id: 17304550, UMLKSK CUI: C0221355
HumanBRWD3254065bromodomain and WD repeat domain containing 3
img OMIM, Score=1000, UMLKSK CUI: C0221355
img GENERIF, Score=1000, Pubmed Id: 17668385, UMLKSK CUI: C0221355
HumanNDUFAF291942NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanZNF46984627zinc finger protein 469
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanC20orf779133
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanUPF3B65109UPF3 regulator of nonsense transcripts homolog B (yeast)
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanNSD164324nuclear receptor binding SET domain protein 1
img GENERIF, Score=1000, Pubmed Id: 18001468, UMLKSK CUI: C0221355
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanPEX2655670peroxisomal biogenesis factor 26
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanNDUFAF429078NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanOSTM128962osteopetrosis associated transmembrane protein 1
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanMLC123209megalencephalic leukoencephalopathy with subcortical cysts 1
img GENERIF, Score=755, Pubmed Id: 16470554, UMLKSK CUI: C0221355
img GENERIF, Score=789, Pubmed Id: 12497630, UMLKSK CUI: C0221355
img GENERIF, Score=789, Pubmed Id: 16652334, UMLKSK CUI: C0221355
img GENERIF, Score=789, Pubmed Id: 11935341, UMLKSK CUI: C0221355
HumanB4GALT711285xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanTCIRG110312T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanEIF2B58893eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
img OMIM, Score=1000, UMLKSK CUI: C0221355
img GENERIF, Score=861, Pubmed Id: 17646634, UMLKSK CUI: C0221355
HumanEIF2B28892eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanEIF2B38891eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanEIF2B48890eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanPEX38504peroxisomal biogenesis factor 3
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanOFD18481oral-facial-digital syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0221355
img GENERIF, Score=791, Pubmed Id: 16783569, UMLKSK CUI: C0221355
HumanSYN16853synapsin I
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanSOX96662SRY (sex determining region Y)-box 9
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanPEX55830peroxisomal biogenesis factor 5
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanPEX195824peroxisomal biogenesis factor 19
img OMIM, Score=1000, UMLKSK CUI: C0221355
HumanPTEN5728phosphatase and tensin homolog
img GENERIF, Score=1000, Pubmed Id: 11748304, UMLKSK CUI: C0221355
img GENERIF, Score=861, Pubmed Id: 15805158, UMLKSK CUI: C0221355
img GENERIF, Score=1000, Pubmed Id: 17427195, UMLKSK CUI: C0221355
img OMIM, Score=1000, UMLKSK CUI: C0221355
img OMIM, Score=1000, UMLKSK CUI: C0221355
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0221355Macrocephaly0self