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Details
Link-It Detail - Disease - Phenylketonurias
Debug Stats
  • ### Total Build Time: 60 ms 32.437 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 330 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 245 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=9 ms Completed: 9 ms rowSize= 1,023 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 563 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 6.802 KB
  • CONCEPT_RELATIONSHIPS gt=27 ms Completed: 27 ms rowSize= 12.949 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 9.214 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.150 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Phenylketonurias C0031485
Definition (1)
A genetic disorder in which the body lacks the enzyme necessary to metabolize phenylalanine
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Brain Diseases, Metabolic, Inborn C0752109
img Amino Acid Metabolism, Inborn Errors C0002514
Children (1)
img Phenylketonuria, Maternal C0085547
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Brain Diseases, Metabolic, Inborn C0752109
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Brain Diseases, Metabolic, Inborn C0752109
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Brain Diseases, Metabolic, Inborn C0752109
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Amino Acid Metabolism, Inborn Errors C0002514
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Amino Acid Metabolism, Inborn Errors C0002514
Relationships (48)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 13
diso_​to_​diso : 25
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 28
associated_​with : 2
classifies : 2
mapped_​to : 12
related_​to : 3
used_​for : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT127img In Blood C0005768
DISO_to_PHEN120img genetic aspects C0017399
DISO_to_PHEN111img genetic aspects C0017399
DISO_to_CHEM107img 2-Amino-3-phenyl-pronanoic acid C0031453
DISO_to_CHEM107img Phenylalanine C0031453
DISO_to_ANAT91img In Blood C0005768
DISO_to_CHEM82img Phenylalanine Hydroxylase C0031456
DISO_to_CHEM79img Biopterin C0005562
DISO_to_CHEM73img 2-Amino-3-phenyl-pronanoic acid C0031453
DISO_to_CHEM66img Biopterin C0005562
DISO_to_CHEM56img Phenylalanine Hydroxylase C0031456
DISO_to_DISO48img Complication Aspects C1171258
DISO_to_DISO42img Complication Aspects C1171258
DISO_to_PHYS29img Mutation C0026882
DISO_to_PHYS26img Mutation C0026882
DISO_to_ANAT25img Brain C0006104
DISO_to_ANAT19img Brain C0006104
DISO_to_DISO11img Cognition Disorders C0009241
DISO_to_DISO11img Intellectual Disability C0025362
DISO_to_DISO10img Oxidative Stress C0242606
DISO_to_CHEM9img Tyrosine C0041485
DISO_to_DISO9img Congenital Hypothyroidism C0010308
DISO_to_CHEM8img Phenylalanine Ammonia-Lyase C0031454
DISO_to_PHYS8img Cognition C0009240
DISO_to_CHEM7img Antioxidants C0003402
Genes (9)

Species:
human : 9
SpeciesGeneGeneIdGene NameEvidence
HumanNLGN4X57502neuroligin 4, X-linked
img OMIM, Score=833, UMLKSK CUI: C0031485
HumanNLGN354413neuroligin 3
img OMIM, Score=833, UMLKSK CUI: C0031485
HumanNRXN19378neurexin 1
img OMIM, Score=833, UMLKSK CUI: C0031485
HumanS100B6285S100 calcium binding protein B
img GENERIF, Score=1000, Pubmed Id: 14675567, UMLKSK CUI: C0031485
HumanPPARG5468peroxisome proliferator-activated receptor gamma
img GENERIF, Score=694, Pubmed Id: 18755275, UMLKSK CUI: C0031485
HumanPAH5053phenylalanine hydroxylase
Click here to display 23 evidence detail records.
HumanMECP24204methyl CpG binding protein 2 (Rett syndrome)
img OMIM, Score=833, UMLKSK CUI: C0031485
HumanMAOB4129monoamine oxidase B
img GENERIF, Score=1000, Pubmed Id: 15461973, UMLKSK CUI: C0031485
img GENERIF, Score=1000, Pubmed Id: 15589121, UMLKSK CUI: C0031485
HumanGLO12739glyoxalase I
img OMIM, Score=833, UMLKSK CUI: C0031485
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0031485Phenylketonurias0self