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Details
Link-It Detail - Disease - Hyperammonemia
Debug Stats
  • ### Total Build Time: 127 ms 38.101 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 371 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 265 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=10 ms Completed: 10 ms rowSize= 556 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.530 KB
  • CONCEPT_RELATIONSHIPS gt=71 ms Completed: 71 ms rowSize= 12.418 KB
  • CONCEPT_GENES gt=32 ms Completed: 32 ms rowSize= 21.621 KB
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Hyperammonemia C0220994
HYPERAMMONAEMIA
Definition (1)
Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA.
Semantic Types (1)
Pathologic Function (T046)
Parents (1)
img Pathologic Processes C0030660
Ancestral Roots
RootRoot Plus OneDepthParent
img Pathological Conditions, Signs and Symptoms C0039058img Pathologic Processes C00306603img Pathologic Processes C0030660
Relationships (40)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 9
diso_​to_​diso : 25
diso_​to_​phen : 2


Relationships:
none : 33
associated_​with : 1
isa : 4
mapped_​to : 2
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO78img chemically induced C0007994
DISO_to_DISO67img Complication Aspects C1171258
DISO_to_ANAT48img In Blood C0005768
DISO_to_CHEM43img Valproic Acid C0042291
DISO_to_DISO43img Hepatic Encephalopathy C0019151
DISO_to_DISO42img chemically induced C0007994
DISO_to_DISO40img Complication Aspects C1171258
DISO_to_CHEM34img Ammonia C0002607
DISO_to_CHEM33img Valproic Acid C0042291
DISO_to_PHEN30img genetic aspects C0017399
DISO_to_ANAT24img Brain C0006104
DISO_to_CHEM23img Anticonvulsants C0003286
DISO_to_DISO23img BRAIN DIS METAB C0006112
DISO_to_DISO23img Hepatic Encephalopathy C0019151
DISO_to_PHEN22img genetic aspects C0017399
DISO_to_CHEM21img Anticonvulsants C0003286
DISO_to_DISO20img Neurotoxicity Syndromes C0235032
DISO_to_ANAT19img In Blood C0005768
DISO_to_ANAT18img Brain C0006104
DISO_to_DISO18img Ornithine Carbamoyltransferase Deficiency Disease C0268542
DISO_to_DISO17img Liver Cirrhosis C0023890
DISO_to_DISO16img Brain Diseases C0006111
DISO_to_CHEM15img Ammonia C0002607
DISO_to_DISO15img BRAIN DIS METAB C0006112
DISO_to_DISO14img Ornithine Carbamoyltransferase Deficiency Disease C0268542
Genes (17)

Species:
human : 17
SpeciesGeneGeneIdGene NameEvidence
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
img OMIM, Score=1000, UMLKSK CUI: C0220994
HumanMMAA166785methylmalonic aciduria (cobalamin deficiency) cblA type
img OMIM, Score=1000, UMLKSK CUI: C0220994
HumanNAGS162417N-acetylglutamate synthase
img OMIM, Score=1000, UMLKSK CUI: C0220994
img OMIM, Score=1000, UMLKSK CUI: C0220994
img GENERIF, Score=827, Pubmed Id: 12447942, UMLKSK CUI: C0220994
img GAD, Score=1000, Pubmed Id: 12594532, UMLKSK CUI: C0220994
img GENERIF, Score=861, Pubmed Id: 17510757, UMLKSK CUI: C0220994
HumanMCCC156922methylcrotonoyl-CoA carboxylase 1 (alpha)
img OMIM, Score=1000, UMLKSK CUI: C0220994
HumanSLC25A1510166solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
img GENERIF, Score=1000, Pubmed Id: 11668643, UMLKSK CUI: C0220994
img GENERIF, Score=1000, Pubmed Id: 14759633, UMLKSK CUI: C0220994
img OMIM, Score=1000, UMLKSK CUI: C0220994
HumanSLC7A79056solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
img OMIM, Score=833, UMLKSK CUI: C0220994
img OMIM, Score=1000, UMLKSK CUI: C0220994
HumanSLC22A56584solute carrier family 22 (organic cation/carnitine transporter), member 5
img OMIM, Score=1000, UMLKSK CUI: C0220994
HumanPCCB5096propionyl CoA carboxylase, beta polypeptide
img OMIM, Score=1000, UMLKSK CUI: C0220994
HumanPCCA5095propionyl CoA carboxylase, alpha polypeptide
img OMIM, Score=1000, UMLKSK CUI: C0220994
HumanOTC5009ornithine carbamoyltransferase
img OMIM, Score=833, UMLKSK CUI: C0220994
img OMIM, Score=833, UMLKSK CUI: C0220994
img OMIM, Score=1000, UMLKSK CUI: C0220994
HumanMUT4594methylmalonyl CoA mutase
img OMIM, Score=1000, UMLKSK CUI: C0220994
img GENERIF, Score=861, Pubmed Id: 18940555, UMLKSK CUI: C0220994
HumanGLUD12746glutamate dehydrogenase 1
img GENERIF, Score=1000, Pubmed Id: 11840195, UMLKSK CUI: C0220994
img OMIM, Score=1000, UMLKSK CUI: C0220994
HumanCPT21376carnitine palmitoyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0220994
HumanCPS11373carbamoyl-phosphate synthase 1, mitochondrial
img OMIM, Score=1000, UMLKSK CUI: C0220994
HumanASS1445argininosuccinate synthase 1
img OMIM, Score=1000, UMLKSK CUI: C0220994
HumanASL435argininosuccinate lyase
img OMIM, Score=1000, UMLKSK CUI: C0220994
HumanARG1383arginase 1
img OMIM, Score=1000, UMLKSK CUI: C0220994
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0220994Hyperammonemia0self