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Details
Link-It Detail - Disease - Microcephaly
Debug Stats
  • ### Total Build Time: 78 ms 51.267 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 322 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 340 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 1,017 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 5.489 KB
  • CONCEPT_RELATIONSHIPS gt=40 ms Completed: 40 ms rowSize= 14.417 KB
  • CONCEPT_GENES gt=20 ms Completed: 20 ms rowSize= 28.298 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Microcephaly C0025958
Definition (1)
A congenital or acquired developmental disorder in which the circumference of the head is smaller than normal for the person's age and sex. It is the result of brain developmental delay.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (2)
img Craniofacial Abnormalities C0376634
img Malformations of Cortical Development C1955869
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514914img Craniofacial Abnormalities C0376634
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Craniofacial Abnormalities C0376634
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Malformations of Cortical Development C1955869
img Nervous System Diseases C0027765img Nervous System Malformations C04975524img Malformations of Cortical Development C1955869
Relationships (127)

Relation Types:
diso_​to_​anat : 9
diso_​to_​chem : 4
diso_​to_​diso : 106
diso_​to_​gene : 1
diso_​to_​phen : 2
diso_​to_​phys : 5


Relationships:
none : 36
associated_​with : 1
classifies : 2
is_​associated_​anatomic_​site_​of : 2
isa : 5
location_​of : 1
mapped_​to : 79
used_​for : 1
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN182img genetic aspects C0017399
DISO_to_PHEN96img genetic aspects C0017399
DISO_to_DISO68img Abnormalities, Multiple C0000772
DISO_to_DISO66img Intellectual Disability C0025362
DISO_to_DISO56img Abnormalities, Multiple C0000772
DISO_to_DISO52img Complication Aspects C1171258
DISO_to_DISO33img Intellectual Disability C0025362
DISO_to_DISO30img Complication Aspects C1171258
DISO_to_DISO30img Dwarfism C0013336
DISO_to_PHYS30img Mutation C0026882
DISO_to_ANAT27img Brain C0006104
DISO_to_CHEM23img Nerve Tissue Proteins C0027759
DISO_to_CHEM22img Nerve Tissue Proteins C0027759
DISO_to_DISO22img Developmental Disabilities C0008073
DISO_to_DISO18img Chromosome Deletion C0008628
DISO_to_DISO16img Fetal Growth Retardation C0015934
DISO_to_ANAT15img Brain C0006104
DISO_to_DISO12img Disorder, Growth C0018273
DISO_to_PHYS11img Phenotype C0031437
DISO_to_ANAT10img Cerebral Cortex C0007776
DISO_to_CHEM10img Nuclear Proteins C0028589
DISO_to_DISO10img Fetal Growth Retardation C0015934
DISO_to_ANAT9img 1 chromosome C0008651
DISO_to_DISO9img Congenital Heart Defects C0018798
DISO_to_DISO9img Seizures C0036572
Genes (143)

Species:
human : 143
Page Size
Current 25
  Page 1 of 6
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanTSEN54283989TSEN54 tRNA splicing endonuclease subunit
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanASPM259266asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
img GENERIF, Score=1000, Pubmed Id: 15355437, UMLKSK CUI: C0025958
img GENERIF, Score=660, Pubmed Id: 18331833, UMLKSK CUI: C0025958
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanGFM185476G elongation factor, mitochondrial 1
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanPHF684295PHD finger protein 6
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanPUS180324pseudouridylate synthase 1
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanFRAS180144Fraser syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanSLC25A2279751solute carrier family 25 (mitochondrial carrier: glutamate), member 22
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanMCPH179648microcephalin 1
img OMIM, Score=1000, UMLKSK CUI: C0025958
img OMIM, Score=1000, UMLKSK CUI: C0025958
img OMIM, Score=1000, UMLKSK CUI: C0025958
img GENERIF, Score=1000, Pubmed Id: 16217032, UMLKSK CUI: C0025958
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0025958
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanPORCN64840porcupine homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanSIL164374SIL1 nucleotide exchange factor
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanSLC25A1960386solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
img GENERIF, Score=861, Pubmed Id: 12185364, UMLKSK CUI: C0025958
HumanMCOLN157192mucolipin 1
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanFAM20C56975family with sequence similarity 20, member C
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanC10orf256652chromosome 10 open reading frame 2
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanALG156052ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanCENPJ55835centromere protein J
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanCHD755636chromodomain helicase DNA binding protein 7
img OMIM, Score=1000, UMLKSK CUI: C0025958
HumanNOP1055505NOP10 ribonucleoprotein
img OMIM, Score=1000, UMLKSK CUI: C0025958
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0025958Microcephaly0self