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Details
Link-It Detail - Disease - Phenylketonuria, Maternal
Debug Stats
  • ### Total Build Time: 28 ms 11.955 KB
  • CONCEPT_NAME gt=15 ms Completed: 15 ms rowSize= 422 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 479 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=6 ms Completed: 6 ms rowSize= 993 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 5.428 KB
  • CONCEPT_RELATIONSHIPS gt=3 ms Completed: 3 ms rowSize= 3.256 KB
  • CONCEPT_GENES gt=1 ms Completed: 1 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Phenylketonuria, Maternal C0085547
MATERNAL PHENYLALANINE HYDROXYLASE DEFIC DIS
Definition (1)
A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Phenylketonurias C0031485
img Pregnancy Complications C0032962
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Phenylketonurias C0031485
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Phenylketonurias C0031485
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Phenylketonurias C0031485
img Female Urogenital Diseases and Pregnancy Complications C1720765img Pregnancy Complications C00329623img Pregnancy Complications C0032962
Relationships (5)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 3
diso_​to_​phen : 1


Relationships:
none : 3
permuted_​term_​of : 1
related_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT10img In Blood C0005768
DISO_to_DISO7img Complication Aspects C1171258
DISO_to_PHEN7img genetic aspects C0017399
DISO_to_DISOrelated_toimg Classical phenylketonuria C0751434
DISO_to_DISOpermuted_term_ofimg MATERNAL PHENYLALANINE HYDROXYLASE DEFIC DIS C0085547
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0085547Phenylketonuria, Maternal0self