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Details
Link-It Detail - Disease - CHH
Debug Stats
  • ### Total Build Time: 52 ms 10.122 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 304 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 356 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= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=5 ms Completed: 5 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=27 ms Completed: 27 ms rowSize= 8.166 KB
  • CONCEPT_XREFS gt=10 ms Completed: 10 ms rowSize= 1.138 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
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Disease (1)
CHH C0220748
Definition (1)
A rare autosomal recessive inherited disorder caused by mutation in the gene for RNAase RMRP. It is characterized by short-limb dwarfism, presence of fine sparse hair, and T-and B-cell immunodeficiency.
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanSBDS51119Shwachman-Bodian-Diamond syndrome
img GENERIF, Score=1000, Pubmed Id: 16529906, UMLKSK CUI: C0220748
HumanRMRP6023RNA component of mitochondrial RNA processing endoribonuclease
img GENERIF, Score=1000, Pubmed Id: 16838329, UMLKSK CUI: C0220748
img GENERIF, Score=1000, Pubmed Id: 16832578, UMLKSK CUI: C0220748
img GENERIF, Score=717, Pubmed Id: 17937437, UMLKSK CUI: C0220748
img GENERIF, Score=756, Pubmed Id: 11940090, UMLKSK CUI: C0220748
img GENERIF, Score=1000, Pubmed Id: 16244706, UMLKSK CUI: C0220748
img OMIM, Score=1000, UMLKSK CUI: C0220748
img GENERIF, Score=694, Pubmed Id: 17701897, UMLKSK CUI: C0220748
img GENERIF, Score=1000, Pubmed Id: 18540246, UMLKSK CUI: C0220748
img GENERIF, Score=756, Pubmed Id: 16254002, UMLKSK CUI: C0220748
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0220748CHH0self