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Details
Link-It Detail - Disease - Dental Enamel Hypoplasia
Debug Stats
  • ### Total Build Time: 109 ms 40.526 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 346 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 454 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= 305 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=14 ms Completed: 14 ms rowSize= 555 bytes
  • CONCEPT_CHILDREN gt=11 ms Completed: 11 ms rowSize= 561 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.113 KB
  • CONCEPT_RELATIONSHIPS gt=42 ms Completed: 42 ms rowSize= 13.271 KB
  • CONCEPT_GENES gt=35 ms Completed: 35 ms rowSize= 19.787 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Dental Enamel Hypoplasia C0011351
Definition (1)
An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors.
Semantic Types (3)
Congenital Abnormality (T019)
Acquired Abnormality (T020)
Disease or Syndrome (T047)
Parents (1)
img Tooth Abnormalities C0040427
Children (1)
img Amelogenesis Imperfecta C0002452
Ancestral Roots
RootRoot Plus OneDepthParent
img Stomatognathic Diseases C0038368img Tooth Diseases C00404354img Tooth Abnormalities C0040427
img Stomatognathic Diseases C0038368img Stomatognathic System Abnormalities C02430574img Tooth Abnormalities C0040427
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Tooth Abnormalities C0040427
Relationships (37)

Relation Types:
diso_​to_​anat : 11
diso_​to_​chem : 1
diso_​to_​diso : 24
diso_​to_​phen : 1


Relationships:
none : 13
associated_​with : 2
is_​associated_​anatomic_​site_​of : 3
isa : 11
location_​of : 1
mapped_​to : 6
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT34img Dental Enamel C0011350
DISO_to_ANAT27img Molar C0026367
DISO_to_PHEN24img genetic aspects C0017399
DISO_to_ANAT21img Dens incisivus C0021156
DISO_to_ANAT19img Dental Enamel C0011350
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_DISO14img Demineralization, Tooth C0085511
DISO_to_DISO13img Dental Caries C0011334
DISO_to_DISO12img Complication Aspects C1171258
DISO_to_ANAT10img Dens incisivus C0021156
DISO_to_ANAT9img Deciduous tooth C3266841
DISO_to_ANAT9img Molar C0026367
DISO_to_CHEM7img DENT ENAMEL PROTEINS C0011353
DISO_to_ANATlocation_ofimg Dental Enamel C0011350
DISO_to_ANATis_associated_anatomic_site_ofimg Head and neck structure C0460004
DISO_to_ANATis_associated_anatomic_site_ofimg Lip and Oral Cavity C1711367
DISO_to_ANATis_associated_anatomic_site_ofimg Mouth C0226896
DISO_to_DISOassociated_withimg 213 CONGENITAL HYPOPLASIAS C0020636
DISO_to_DISOisaimg AI - Amelogenesis imperfecta C0002452
DISO_to_DISOpermuted_term_ofimg Ageneses, Enamel C0011351
DISO_to_DISOmapped_toimg Ameloonychohypohidrotic syndrome C1863006
DISO_to_DISOisaimg Antenatal enamel hypoplasia C0399365
DISO_to_DISOassociated_withimg Dental caries associated with enamel hypoplasia C1290620
DISO_to_DISOisaimg Enamel hypoplasia of single tooth C0266027
DISO_to_DISOmapped_toimg Enamel hypoplasia, capsular cataracts, and ductal stenosis C2931538
Genes (23)

Species:
human : 23
SpeciesGeneGeneIdGene NameEvidence
HumanPORCN64840porcupine homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanCLDN19076claudin 1
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanOFD18481oral-facial-digital syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanVDR7421vitamin D (1,25- dihydroxyvitamin D3) receptor
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanPLEC5339plectin
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanNF14763neurofibromin 1
img GENERIF, Score=1000, Pubmed Id: 18183042, UMLKSK CUI: C0011351
HumanKCNJ23759potassium inwardly-rectifying channel, subfamily J, member 2
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanHLA-DQB13119
img OMIM, Score=858, UMLKSK CUI: C0011351
HumanHLA-DQA13117
img OMIM, Score=858, UMLKSK CUI: C0011351
HumanGNAS2778GNAS complex locus
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanGJA12697gap junction protein, alpha 1, 43kDa
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanFLNB2317filamin B, beta
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanFGFR22263fibroblast growth factor receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanFGFR32261fibroblast growth factor receptor 3
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanFGF102255fibroblast growth factor 10
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanEP3002033E1A binding protein p300
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanCYP27B11594cytochrome P450, family 27, subfamily B, polypeptide 1
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanCREBBP1387CREB binding protein
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanRUNX2860runt-related transcription factor 2
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanATR545ataxia telangiectasia and Rad3 related
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanAIRE326autoimmune regulator
img OMIM, Score=1000, UMLKSK CUI: C0011351
HumanALDH3A2224aldehyde dehydrogenase 3 family, member A2
img OMIM, Score=1000, UMLKSK CUI: C0011351
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0011351Dental Enamel Hypoplasia0self