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Details
Link-It Detail - Disease - Porphyria, Acute Intermittent
Debug Stats
  • ### Total Build Time: 216 ms 26.533 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 356 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 492 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=12 ms Completed: 12 ms rowSize= 555 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 9.274 KB
  • CONCEPT_RELATIONSHIPS gt=184 ms Completed: 184 ms rowSize= 14.463 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.163 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Porphyria, Acute Intermittent C0162565
Definition (1)
An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Porphyrias, Hepatic C0162533
Ancestral Roots
RootRoot Plus OneDepthParent
img Digestive System Diseases C0012242img Liver Diseases C00238954img Porphyrias, Hepatic C0162533
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Porphyrias, Hepatic C0162533
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Porphyrias, Hepatic C0162533
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372746img Porphyrias, Hepatic C0162533
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Porphyrias, Hepatic C0162533
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Porphyrias, Hepatic C0162533
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Porphyrias, Hepatic C0162533
Relationships (84)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 30
diso_​to_​diso : 47
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 16
alias_​of : 1
associated_​with : 2
clinically_​similar : 1
manifestation_​of : 31
may_​prevent : 2
may_​treat : 25
permuted_​term_​of : 1
related_​to : 2
used_​for : 3
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO54img Complication Aspects C1171258
DISO_to_PHEN49img genetic aspects C0017399
DISO_to_DISO40img Complication Aspects C1171258
DISO_to_PHEN40img genetic aspects C0017399
DISO_to_CHEM29img Hydroxymethylbilane Synthase C0032706
DISO_to_CHEM24img Hydroxymethylbilane Synthase C0032706
DISO_to_ANAT12img In Blood C0005768
DISO_to_PHYS11img Mutation C0026882
DISO_to_DISO8img Pregnancy Complications C0032962
DISO_to_PHYS7img Mutation C0026882
DISO_to_ANAT6img In Blood C0005768
DISO_to_DISO6img ADH INAPPROPRIATE C0021141
DISO_to_DISO6img Abdominal Pain C0000737
DISO_to_DISO6img Hyponatremia C0020625
DISO_to_DISO5img Pregnancy Complications C0032962
DISO_to_DISO5img chemically induced C0007994
DISO_to_CHEMmay_treatimg 10H-Phenothiazine-10-propanamine, 2-chloro-N,N-dimethyl- C0008286
DISO_to_CHEMmay_treatimg CHLORPROMAZINE 100 MG RECTAL SUPPOSITORY C0692172
DISO_to_CHEMmay_treatimg CHLORPROMAZINE 25 MG Rectal (systemic) suppository C0692173
DISO_to_CHEMmay_treatimg CHLORPROMAZINE HCL 100MG/ML CONC,ORAL C0975603
DISO_to_CHEMmay_treatimg CHLORPROMAZINE HCL 10MG/5ML ORAL SYRUP C0975604
DISO_to_CHEMmay_treatimg CHLORPROMAZINE HCL 150 mg ORAL CAPSULE, SUSTAINED ACTION C0975605
DISO_to_CHEMmay_treatimg CHLORPROMAZINE HCL 200 mg ORAL CAPSULE, SUSTAINED ACTION C0975606
DISO_to_CHEMmay_treatimg CHLORPROMAZINE HCL 25MG ORAL TABLET C0688304
DISO_to_CHEMmay_treatimg CHLORPROMAZINE HCL 25MG TAB,EC C1572087
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0162565Porphyria, Acute Intermittent0self