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Details
Link-It Detail - Disease - Cleft Lip
Debug Stats
  • ### Total Build Time: 106 ms 50.687 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 316 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 359 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= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 985 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=7 ms Completed: 7 ms rowSize= 5.376 KB
  • CONCEPT_RELATIONSHIPS gt=68 ms Completed: 68 ms rowSize= 13.614 KB
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 28.710 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.144 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cleft Lip C0008924
Definition (1)
Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. It is thought to be caused by faulty migration of the mesoderm in the head region.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (2)
img Lip Diseases C0023760
img Mouth Abnormalities C0026633
Ancestral Roots
RootRoot Plus OneDepthParent
img Stomatognathic Diseases C0038368img Mouth Diseases C00266364img Lip Diseases C0023760
img Stomatognathic Diseases C0038368img Stomatognathic System Abnormalities C02430574img Mouth Abnormalities C0026633
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Mouth Abnormalities C0026633
img Stomatognathic Diseases C0038368img Mouth Diseases C00266364img Mouth Abnormalities C0026633
Relationships (99)

Relation Types:
diso_​to_​anat : 22
diso_​to_​chem : 9
diso_​to_​diso : 56
diso_​to_​gene : 1
diso_​to_​phen : 2
diso_​to_​phys : 9


Relationships:
none : 61
associated_​with : 1
classifies : 2
is_​associated_​anatomic_​site_​of : 3
isa : 4
mapped_​to : 28
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO1206img Cleft Palate C0008925
DISO_to_DISO858img Cleft Palate C0008925
DISO_to_PHEN345img genetic aspects C0017399
DISO_to_DISO234img Complication Aspects C1171258
DISO_to_PHEN211img genetic aspects C0017399
DISO_to_DISO178img Complication Aspects C1171258
DISO_to_ANAT104img Nose C0028429
DISO_to_DISO80img Abnormalities, Multiple C0000772
DISO_to_ANAT72img Nose C0028429
DISO_to_ANAT71img Maxilla C0024947
DISO_to_ANAT59img Maxilla C0024947
DISO_to_ANAT51img Lip C0023759
DISO_to_DISO48img Abnormalities, Multiple C0000772
DISO_to_GENE45img Polymorphism, Single Nucleotide C0752046
DISO_to_ANAT43img Surgical Flaps C0038925
DISO_to_DISO43img Ectodermal Dysplasia C0013575
DISO_to_ANAT42img Lip C0023759
DISO_to_CHEM41img IRF Transcription Factors C1564741
DISO_to_CHEM41img Interferon Regulatory Factors C1564741
DISO_to_ANAT38img Alveolar Process C0002386
DISO_to_PHYS37img GENET PREDISPOSITION C0314657
DISO_to_PHYS31img Development, Maxillofacial C0024960
DISO_to_ANAT28img Alveolar Process C0002386
DISO_to_ANAT27img Surgical Flaps C0038925
DISO_to_CHEM27img TRANSCRIPTION FACTOR C0040648
Genes (64)

Species:
human : 64
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanEVC2132884Ellis van Creveld syndrome 2
img OMIM, Score=882, UMLKSK CUI: C0008924
HumanPROKR2128674prokineticin receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanFRAS180144Fraser syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanMYH1479784myosin, heavy chain 14, non-muscle
img GENERIF, Score=1000, Pubmed Id: 18471249, UMLKSK CUI: C0008924
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0008924
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanPORCN64840porcupine homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanALX460529ALX homeobox 4
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanCHD755636chromodomain helicase DNA binding protein 7
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanNSDHL50814NAD(P) dependent steroid dehydrogenase-like
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanPOMT229954protein-O-mannosyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0008924
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanNIPBL25836Nipped-B homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanPHF823133PHD finger protein 8
img GENERIF, Score=1000, Pubmed Id: 16199551, UMLKSK CUI: C0008924
HumanPOMT110585protein-O-mannosyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0008924
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanCD9610225CD96 molecule
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanARNT29915aryl-hydrocarbon receptor nuclear translocator 2
img GENERIF, Score=1000, Pubmed Id: 12210012, UMLKSK CUI: C0008924
HumanSEMA3E9723sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanLARGE9215like-glycosyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0008924
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanFGF188817fibroblast growth factor 18
img GENERIF, Score=901, Pubmed Id: 17360555, UMLKSK CUI: C0008924
HumanSNX38724sorting nexin 3
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanTP638626tumor protein p63
img GENERIF, Score=1000, Pubmed Id: 16258268, UMLKSK CUI: C0008924
img OMIM, Score=1000, UMLKSK CUI: C0008924
img OMIM, Score=1000, UMLKSK CUI: C0008924
img GENERIF, Score=861, Pubmed Id: 16740912, UMLKSK CUI: C0008924
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanWNT37473wingless-type MMTV integration site family, member 3
img OMIM, Score=1000, UMLKSK CUI: C0008924
HumanWHSC17468Wolf-Hirschhorn syndrome candidate 1
img OMIM, Score=1000, UMLKSK CUI: C0008924
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0008924Cleft Lip0self