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Details
Link-It Detail - Disease - Amelogenesis Imperfecta
Debug Stats
  • ### Total Build Time: 156 ms 39.067 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 345 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=9 ms Completed: 9 ms rowSize= 560 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=14 ms Completed: 14 ms rowSize= 4.128 KB
  • CONCEPT_RELATIONSHIPS gt=63 ms Completed: 63 ms rowSize= 10.888 KB
  • CONCEPT_GENES gt=61 ms Completed: 61 ms rowSize= 21.398 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Amelogenesis Imperfecta C0002452
Definition (1)
A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (1)
img Dental Enamel Hypoplasia C0011351
Ancestral Roots
RootRoot Plus OneDepthParent
img Stomatognathic Diseases C0038368img Tooth Diseases C00404355img Dental Enamel Hypoplasia C0011351
img Stomatognathic Diseases C0038368img Stomatognathic System Abnormalities C02430575img Dental Enamel Hypoplasia C0011351
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Dental Enamel Hypoplasia C0011351
Relationships (24)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 2
diso_​to_​diso : 15
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 9
associated_​with : 1
isa : 4
location_​of : 2
mapped_​to : 7
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN64img genetic aspects C0017399
DISO_to_PHEN47img genetic aspects C0017399
DISO_to_DISO25img Complication Aspects C1171258
DISO_to_CHEM22img DENT ENAMEL PROTEINS C0011353
DISO_to_ANAT13img Dental Enamel C0011350
DISO_to_ANAT12img Dental Enamel C0011350
DISO_to_CHEM12img Proteins C0033684
DISO_to_DISO10img Complication Aspects C1171258
DISO_to_PHYS10img Mutation C0026882
DISO_to_ANATlocation_ofimg Dental Enamel C0011350
DISO_to_ANATlocation_ofimg Dentition, Primary C0079214
DISO_to_DISOassociated_withimg 213 CONGENITAL HYPOPLASIAS C0020636
DISO_to_DISOisaimg ADHCAI C0399376
DISO_to_DISOisaimg AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE C0399367
DISO_to_DISOmapped_toimg AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 C1845052
DISO_to_DISOmapped_toimg Amelocerebrohypohidrotic syndrome C0406740
DISO_to_DISOisaimg Amelogenesis Imperfecta hypomaturation type C0399372
DISO_to_DISOmapped_toimg Amelogenesis imperfecta nephrocalcinosis C2931783
DISO_to_DISOmapped_toimg Amelogenesis imperfecta pigmented hypomaturation type C1290537
DISO_to_DISOmapped_toimg Bilateral sensorineural hearing loss, enamel hypoplasia and nail defects C1856186
DISO_to_DISOmapped_toimg Cone rod dystrophy amelogenesis imperfecta C2931074
DISO_to_DISOused_forimg Dental Diseases C1704330
DISO_to_DISOisaimg Enamel-renal syndrome C0403549
DISO_to_DISOmapped_toimg PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA C1832594
Genes (31)

Species:
human : 31
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanFAM83H286077family with sequence similarity 83, member H
img GENERIF, Score=840, Pubmed Id: 18252228, UMLKSK CUI: C0002452
img OMIM, Score=1000, UMLKSK CUI: C0002452
HumanPORCN64840porcupine homolog (Drosophila)
INFERRED, Score=800, UMLKSK CUI: C0002452
HumanCKAP410970cytoskeleton-associated protein 4
img GENERIF, Score=861, Pubmed Id: 16546853, UMLKSK CUI: C0002452
HumanENAM10117enamelin
img GENERIF, Score=861, Pubmed Id: 14684688, UMLKSK CUI: C0002452
img OMIM, Score=1000, UMLKSK CUI: C0002452
img GENERIF, Score=1000, Pubmed Id: 12407086, UMLKSK CUI: C0002452
HumanKLK49622kallikrein-related peptidase 4
img GENERIF, Score=1000, Pubmed Id: 15235027, UMLKSK CUI: C0002452
HumanMMP209313matrix metallopeptidase 20
img GENERIF, Score=1000, Pubmed Id: 15744043, UMLKSK CUI: C0002452
HumanCLDN19076claudin 1
INFERRED, Score=800, UMLKSK CUI: C0002452
HumanOFD18481oral-facial-digital syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0002452
HumanVDR7421vitamin D (1,25- dihydroxyvitamin D3) receptor
INFERRED, Score=800, UMLKSK CUI: C0002452
HumanPLEC5339plectin
INFERRED, Score=800, UMLKSK CUI: C0002452
HumanOCRL4952oculocerebrorenal syndrome of Lowe
INFERRED, Score=800, UMLKSK CUI: C0002452
HumanNF14763neurofibromin 1
INFERRED, Score=800, UMLKSK CUI: C0002452
HumanLAMA33909laminin, alpha 3
img OMIM, Score=1000, UMLKSK CUI: C0002452
HumanKCNJ23759potassium inwardly-rectifying channel, subfamily J, member 2
INFERRED, Score=800, UMLKSK CUI: C0002452
HumanHLA-DQB13119
INFERRED, Score=800, UMLKSK CUI: C0002452
HumanHLA-DQA13117
INFERRED, Score=800, UMLKSK CUI: C0002452
HumanGNAS2778GNAS complex locus
INFERRED, Score=800, UMLKSK CUI: C0002452
HumanGJA12697gap junction protein, alpha 1, 43kDa
INFERRED, Score=800, UMLKSK CUI: C0002452
HumanFLNB2317filamin B, beta
INFERRED, Score=800, UMLKSK CUI: C0002452
HumanFGFR22263fibroblast growth factor receptor 2
INFERRED, Score=800, UMLKSK CUI: C0002452
HumanFGFR32261fibroblast growth factor receptor 3
INFERRED, Score=800, UMLKSK CUI: C0002452
HumanFGF102255fibroblast growth factor 10
INFERRED, Score=800, UMLKSK CUI: C0002452
HumanEP3002033E1A binding protein p300
INFERRED, Score=800, UMLKSK CUI: C0002452
HumanDLX31747distal-less homeobox 3
img OMIM, Score=1000, UMLKSK CUI: C0002452
HumanCYP27B11594cytochrome P450, family 27, subfamily B, polypeptide 1
INFERRED, Score=800, UMLKSK CUI: C0002452
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0002452Amelogenesis Imperfecta0self