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Details
Link-It Detail - Disease - Craniofacial Abnormalities
Debug Stats
  • ### Total Build Time: 98 ms 44.206 KB
  • CONCEPT_NAME gt=15 ms Completed: 15 ms rowSize= 407 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 778 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=1 ms Completed: 1 ms rowSize= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 565 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 6.526 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.857 KB
  • CONCEPT_RELATIONSHIPS gt=53 ms Completed: 53 ms rowSize= 13.340 KB
  • CONCEPT_GENES gt=24 ms Completed: 24 ms rowSize= 18.399 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Craniofacial Abnormalities C0376634
Abnormalities, Craniofacial
Definition (1)

Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft lip and palate, are among the most common of all birth defects. Others are very rare. Most of them affect how a person's face or head looks. These conditions may also affect other parts of the body.

Treatment depends on the type of problem. Plastic and reconstructive surgery may help the person's appearance.

Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Musculoskeletal Abnormalities C0151491
Children (15)
img Microcephaly C0025958
img LEOPARD Syndrome C0175704
img Platybasia C0032209
img Orofaciodigital Syndromes C0029294
img Holoprosencephaly C0079541
img Silver-Russell Syndrome C0175693
img Donohue Syndrome C0265344
img Rubinstein-Taybi Syndrome C0035934
img Noonan Syndrome C0028326
img Craniofacial Dysostosis C0010273
img Costello Syndrome C0587248
img Loeys-Dietz Syndrome C2697932
img Maxillofacial Abnormalities C0524948
img Cleidocranial Dysplasia C0008928
img Craniosynostoses C0010278
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514913img Musculoskeletal Abnormalities C0151491
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Musculoskeletal Abnormalities C0151491
Relationships (175)

Relation Types:
diso_​to_​anat : 16
diso_​to_​chem : 6
diso_​to_​diso : 142
diso_​to_​phen : 2
diso_​to_​phys : 9


Relationships:
none : 77
mapped_​to : 95
related_​to : 3
Page Size
Current 25
  Page 1 of 7
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN273img genetic aspects C0017399
DISO_to_PHEN245img genetic aspects C0017399
DISO_to_DISO188img Abnormalities, Multiple C0000772
DISO_to_DISO178img Abnormalities, Multiple C0000772
DISO_to_DISO102img Complication Aspects C1171258
DISO_to_DISO83img Complication Aspects C1171258
DISO_to_DISO47img Intellectual Disability C0025362
DISO_to_ANAT43img Bone structure of cranium C0037303
DISO_to_DISO42img Congenital Heart Defects C0018798
DISO_to_DISO41img Intellectual Disability C0025362
DISO_to_DISO39img Chromosome Deletion C0008628
DISO_to_ANAT38img Bone structure of cranium C0037303
DISO_to_DISO31img Developmental Disabilities C0008073
DISO_to_PHYS31img Mutation C0026882
DISO_to_DISO30img Cleft Palate C0008925
DISO_to_ANAT29img Face C0015450
DISO_to_DISO28img Congenital Heart Defects C0018798
DISO_to_DISO27img Disorder, Growth C0018273
DISO_to_DISO26img ABNORM TEETH C0040427
DISO_to_DISO25img Cleft Lip C0008924
DISO_to_DISO24img 4-12 CONGENITAL ANOMALIES OF THE LIMBS C0206762
DISO_to_ANAT23img 22 chromosome C0008665
DISO_to_ANAT23img Bone structure of face C0015455
DISO_to_DISO22img Abnormalities, Eye C0015393
DISO_to_PHYS22img Mutation C0026882
Genes (293)

Species:
human : 293
Page Size
Current 25
  Page 1 of 12
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanD2HGDH728294D-2-hydroxyglutarate dehydrogenase
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanGTF2H5404672general transcription factor IIH, polypeptide 5
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanFREM2341640FRAS1 related extracellular matrix protein 2
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanTSEN54283989TSEN54 tRNA splicing endonuclease subunit
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanASPM259266asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanHYLS1219844hydrolethalus syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanVPS13B157680vacuolar protein sorting 13 homolog B (yeast)
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanPROKR2128674prokineticin receptor 2
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanGFM185476G elongation factor, mitochondrial 1
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanPHF684295PHD finger protein 6
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanPUS180324pseudouridylate synthase 1
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanFRAS180144Fraser syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanSLC25A2279751solute carrier family 25 (mitochondrial carrier: glutamate), member 22
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanMCPH179648microcephalin 1
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanFKRP79147fukutin related protein
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanPORCN64840porcupine homolog (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanSIL164374SIL1 nucleotide exchange factor
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanNSD164324nuclear receptor binding SET domain protein 1
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanSTRA664220stimulated by retinoic acid 6
INFERRED, Score=800, UMLKSK CUI: C0376634
HumanALX460529ALX homeobox 4
INFERRED, Score=800, UMLKSK CUI: C0376634
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0376634Craniofacial Abnormalities0self