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Details
Link-It Detail - Disease - Amino Acid Metabolism, Inborn Errors
Debug Stats
  • ### Total Build Time: 292 ms 42.778 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 419 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 442 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=1 ms Completed: 1 ms rowSize= 561 bytes
  • CONCEPT_CHILDREN gt=34 ms Completed: 34 ms rowSize= 5.705 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.849 KB
  • CONCEPT_RELATIONSHIPS gt=210 ms Completed: 210 ms rowSize= 13.998 KB
  • CONCEPT_GENES gt=32 ms Completed: 32 ms rowSize= 17.457 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.170 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Amino Acid Metabolism, Inborn Errors C0002514
AA METAB DIS INBORN
Definition (1)
Disorders affecting amino acid metabolism. The majority of these disorders are inherited and present in the neonatal period with metabolic disturbances (e.g., ACIDOSIS) and neurologic manifestations. They are present at birth, although they may not become symptomatic until later in life.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Metabolism, Inborn Errors C0025521
Children (13)
img Hyperglycinemia, Nonketotic C0751748
img Hyperlysinemias C0268553
img Hyperhomocysteinemia C0598608
img Urea Cycle Disorders, Inborn C0154246
img Alkaptonuria C0002066
img Multiple Carboxylase Deficiency C0026755
img Phenylketonurias C0031485
img Prolidase Deficiency C0268532
img Maple Syrup Urine Disease C0024776
img Albinism C0001916
img Tyrosinemias C0268483
img Propionic Acidemia C0268579
img Multiple Acyl Coenzyme A Dehydrogenase Deficiency C0268596
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Metabolism, Inborn Errors C0025521
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Metabolism, Inborn Errors C0025521
Relationships (110)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 21
diso_​to_​diso : 79
diso_​to_​gene : 1
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 38
associated_​with : 3
classifies : 2
expanded_​form_​of : 1
isa : 12
mapped_​to : 48
use : 6
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN124img genetic aspects C0017399
DISO_to_PHEN99img genetic aspects C0017399
DISO_to_DISO61img Complication Aspects C1171258
DISO_to_DISO43img Complication Aspects C1171258
DISO_to_ANAT41img In Blood C0005768
DISO_to_CHEM41img Glutarates C0017816
DISO_to_CHEM38img Methylmalonic Acid C0025787
DISO_to_PHYS32img Mutation C0026882
DISO_to_CHEM31img Oxidoreductases Acting on CH CH Group Donors C1257961
DISO_to_CHEM31img Oxidoreductases Acting on CH-CH Group Donors C1257961
DISO_to_CHEM28img Glutarates C0017816
DISO_to_ANAT26img In Blood C0005768
DISO_to_CHEM24img Glutaryl-CoA Dehydrogenase C0061510
DISO_to_CHEM24img Glutaryl-CoA dehydrogenase C0061510
DISO_to_CHEM24img Methylmalonic Acid C0025787
DISO_to_CHEM18img Lysine C0024337
DISO_to_PHYS18img Mutation C0026882
DISO_to_DISO17img Brain Diseases, Metabolic, Inborn C0752109
DISO_to_CHEM14img Amino Acids C0002520
DISO_to_CHEM14img Glycine C0017890
DISO_to_CHEM12img 4F2 Antigen, Light Chains C0949788
DISO_to_CHEM12img Antigens, CD98 Light Chains C0949788
DISO_to_CHEM12img Lysine C0024337
DISO_to_ANAT11img Brain C0006104
DISO_to_DISO11img Brain Diseases, Metabolic C0006112
Genes (74)

Species:
human : 74
Page Size
Current 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanBLOC1S3388552biogenesis of lysosomal organelles complex-1, subunit 3
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanNAGS162417N-acetylglutamate synthase
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanHPS489781Hermansky-Pudlak syndrome 4
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanHPS384343Hermansky-Pudlak syndrome 3
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanDTNBP184062dystrobrevin binding protein 1
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanHPS679803Hermansky-Pudlak syndrome 6
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanVPS33A65082vacuolar protein sorting 33 homolog A (S. cerevisiae)
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanCXCL1658191chemokine (C-X-C motif) ligand 16
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanNLGN4X57502neuroligin 4, X-linked
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanNLGN354413neuroligin 3
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanSLC45A251151solute carrier family 45, member 2
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanMMADHC27249methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanMMACHC25974methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanBHMT223743betaine--homocysteine S-methyltransferase 2
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanRAB3823682RAB38, member RAS oncogene family
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanHPS511234Hermansky-Pudlak syndrome 5
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanCXCR610663chemokine (C-X-C motif) receptor 6
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanABCC410257ATP-binding cassette, sub-family C (CFTR/MRP), member 4
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanSLC25A1310165solute carrier family 25 (aspartate/glutamate carrier), member 13
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanAASS10157aminoadipate-semialdehyde synthase
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanNRXN19378neurexin 1
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanAP3B18546adaptor-related protein complex 3, beta 1 subunit
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanVEGFA7422vascular endothelial growth factor A
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanTYRP17306tyrosinase-related protein 1
INFERRED, Score=800, UMLKSK CUI: C0002514
HumanTYR7299tyrosinase
INFERRED, Score=800, UMLKSK CUI: C0002514
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0002514Amino Acid Metabolism, Inborn Errors0self