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Details
Link-It Detail - Human Phenotype - Abnormality of carboxylic acid metabolism
Debug Stats
  • ### Total Build Time: 34 ms 27.613 KB
  • CONCEPT_NAME gt=11 ms Completed: 11 ms rowSize= 216 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 224 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 458 bytes
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 2.430 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.173 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=17 ms Completed: 17 ms rowSize= 21.954 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.035 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of carboxylic acid metabolism HP:0004354
Definition (1)
An abnormality of the metabolism of a `carboxylic acid` (CHEBI:33575).
Parents (1)
img Abnormality of metabolism/homeostasis HP:0001939
Children (7)
img Aldehyde oxidase deficiency HP:0002932
img Dicarboxylic aciduria HP:0003215
img Abnormality of dicarboxylic acid metabolism HP:0010995
img Abnormality of monocarboxylic acid metabolism HP:0010996
img Elevated urinary vanillylmandelic acid HP:0011978
img Abnormality of amino acid metabolism HP:0004337
img Elevated urinary homovanillic acid HP:0011977
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
Genes (179)

Species:
human : 179
Page Size
Current 25
  Page 1 of 8
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL2P21100415942Hypotonia-cystinuria syndrome
img HP RolledUp, OMIM ID: 606407
HumanDEL11P15P14100240736Chromosome 11p15-p14 deletion syndrome
img HP RolledUp, OMIM ID: 606528
HumanD2HGDH728294D-2-hydroxyglutarate dehydrogenase
img HP RolledUp, OMIM ID: 600721
HumanCOA5493753cytochrome c oxidase assembly factor 5
HumanSLC6A19340024solute carrier family 6 (neutral amino acid transporter), member 19
img HP RolledUp, OMIM ID: 234500
img HP RolledUp, OMIM ID: 138500
img HP RolledUp, OMIM ID: 242600
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
img HP RolledUp, OMIM ID: 251110
HumanACSF3197322acyl-CoA synthetase family member 3
img HP RolledUp, OMIM ID: 614265
HumanMMAA166785methylmalonic aciduria (cobalamin deficiency) cblA type
img HP RolledUp, OMIM ID: 251100
HumanSLC36A2153201solute carrier family 36 (proton/amino acid symporter), member 2
img HP RolledUp, OMIM ID: 138500
img HP RolledUp, OMIM ID: 242600
HumanGLYCTK132158glycerate kinase
HumanUROC1131669urocanate hydratase 1
img HP RolledUp, OMIM ID: 276880
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
img HP RolledUp, OMIM ID: 610198
HumanPDB494003Paget disease of bone 4
img HP RolledUp, OMIM ID: 602080
HumanATPAF291647ATP synthase mitochondrial F1 complex assembly factor 2
img HP RolledUp, OMIM ID: 604273
HumanCOX1484987cytochrome c oxidase assembly homolog 14 (S. cerevisiae)
HumanSERAC184947serine active site containing 1
img HP RolledUp, OMIM ID: 614739
HumanMCEE84693methylmalonyl CoA epimerase
img HP RolledUp, OMIM ID: 251120
HumanC7orf1079783chromosome 7 open reading frame 10
img HP RolledUp, OMIM ID: 231690
HumanSLC52A279581solute carrier family 52 (riboflavin transporter), member 2
img HP RolledUp, OMIM ID: 614707
HumanFRTS65211Fanconi renotubular syndrome
HumanMCCC264087methylcrotonoyl-CoA carboxylase 2 (beta)
HumanMRXSA57791Armfield X-linked mental retardation syndrome
img HP RolledUp, OMIM ID: 300261
HumanC10orf256652chromosome 10 open reading frame 2
img HP RolledUp, OMIM ID: 251880
HumanLMBRD155788LMBR1 domain containing 1
img HP RolledUp, OMIM ID: 277380
HumanAGK55750acylglycerol kinase
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004354Abnormality of carboxylic acid metabolism0self