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Details
Link-It Detail - Disease - Brain Diseases, Metabolic, Inborn
Debug Stats
  • ### Total Build Time: 43 ms 48.709 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 416 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 461 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=0 Completed: 0 ms rowSize= 1,004 bytes
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 9.646 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.432 KB
  • CONCEPT_RELATIONSHIPS gt=18 ms Completed: 18 ms rowSize= 12.503 KB
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 17.913 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.167 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Brain Diseases, Metabolic, Inborn C0752109
BRAIN DIS METAB INBORN
Definition (1)
Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Metabolism, Inborn Errors C0025521
img Brain Diseases, Metabolic C0006112
Children (22)
img Pyruvate Carboxylase Deficiency Disease C0034341
img Oculocerebrorenal Syndrome C0028860
img Phenylketonurias C0031485
img Maple Syrup Urine Disease C0024776
img Hartnup Disease C0018609
img Peroxisomal Disorders C0282528
img Pyruvate Dehydrogenase Complex Deficiency Disease C0034345
img MELAS Syndrome C0162671
img Lesch-Nyhan Syndrome C0023374
img Tyrosinemias C0268483
img Galactosemias C0016952
img Hepatolenticular Degeneration C0019202
img Homocystinuria C0019880
img Lysosomal Storage Diseases, Nervous System C0751738
img Cerebral Amyloid Angiopathy, Familial C0268393
img Hyperglycinemia, Nonketotic C0751748
img Hyperlysinemias C0268553
img Urea Cycle Disorders, Inborn C0154246
img Hereditary Central Nervous System Demyelinating Diseases C0751877
img Menkes Kinky Hair Syndrome C0022716
img Leigh Disease C0023264
img MERRF Syndrome C0162672
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
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Brain Diseases, Metabolic C0006112
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Brain Diseases, Metabolic C0006112
Relationships (31)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 10
diso_​to_​diso : 14
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 24
entry_​version_​of : 1
mapped_​to : 6
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN74img genetic aspects C0017399
DISO_to_PHEN48img genetic aspects C0017399
DISO_to_ANAT27img Brain C0006104
DISO_to_CHEM24img Glutarates C0017816
DISO_to_DISO20img Complication Aspects C1171258
DISO_to_DISO17img AA METAB DIS INBORN C0002514
DISO_to_DISO14img Complication Aspects C1171258
DISO_to_CHEM13img Glutarates C0017816
DISO_to_ANAT12img Brain C0006104
DISO_to_CHEM11img Oxidoreductases Acting on CH CH Group Donors C1257961
DISO_to_CHEM11img Oxidoreductases Acting on CH-CH Group Donors C1257961
DISO_to_DISO10img AA METAB DIS INBORN C0002514
DISO_to_CHEM9img Glutaryl-CoA Dehydrogenase C0061510
DISO_to_CHEM8img Alcohol Oxidoreductases C0001954
DISO_to_DISO8img Epilepsy C0014544
DISO_to_PHYS8img Mutation C0026882
DISO_to_DISO7img Mental Retardation, X-Linked C1136249
DISO_to_PHYS7img GENET PREDISPOSITION C0314657
DISO_to_CHEM6img Creatine C0010286
DISO_to_CHEM6img Nerve Tissue Proteins C0027759
DISO_to_ANAT5img In Blood C0005768
DISO_to_CHEM5img Creatine C0010286
DISO_to_CHEM5img Succinate-Semialdehyde Dehydrogenase C0075426
DISO_to_DISO5img Nervous System Diseases C0027765
DISO_to_DISOentry_version_ofimg BRAIN DIS METAB INBORN C0752109
Genes (120)

Species:
human : 120
Page Size
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SpeciesGeneGeneIdGene NameEvidence
HumanLOC100507436100507436
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanOCTN3100049579organic cation transporter 3
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanCCR2729230chemokine (C-C motif) receptor 2
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanMIR212406994microRNA 212
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanSUMF1285362sulfatase modifying factor 1
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanNKPD1284353NTPase, KAP family P-loop domain containing 1
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanNAGS162417N-acetylglutamate synthase
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanEXOSC6118460exosome component 6
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanGFM284340G elongation factor, mitochondrial 2
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanSTARD3NL83930STARD3 N-terminal like
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanACSBG281616acyl-CoA synthetase bubblegum family member 2
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanFTO79068fat mass and obesity associated
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanNLGN4X57502neuroligin 4, X-linked
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanMCOLN157192mucolipin 1
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanNLGN354413neuroligin 3
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanNPC1L129881NPC1-like 1
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanMMADHC27249methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanSLC17A526503solute carrier family 17 (acidic sugar transporter), member 5
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanPTPN2226191protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanMMACHC25974methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanCLEC16A23274C-type lectin domain family 16, member A
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanACSBG123205acyl-CoA synthetase bubblegum family member 1
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanNPC210577Niemann-Pick disease, type C2
INFERRED, Score=800, UMLKSK CUI: C0752109
HumanSLC25A1310165solute carrier family 25 (aspartate/glutamate carrier), member 13
INFERRED, Score=800, UMLKSK CUI: C0752109
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0752109Brain Diseases, Metabolic, Inborn0self