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Details
Link-It Detail - Disease - Benign congenital hypotonia
Debug Stats
  • ### Total Build Time: 14 ms 17.782 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 352 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= 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=2 ms Completed: 2 ms rowSize= 1.124 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 14.739 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Benign congenital hypotonia C0343239
Definition (1)
Mild hypotonia that usually appears early in infancy and has a favorable outcome. It is not a manifestation of another disorder that may cause hypotonia (e.g., cerebral palsy or muscular dystrophy).
Relationships (1)

Relation Types:
diso_​to_​diso : 1


Relationships:
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOused_forimg Oppenheim's Disease C0002735
Genes (17)

Species:
human : 17
SpeciesGeneGeneIdGene NameEvidence
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img OMIM, Score=1000, UMLKSK CUI: C0343239
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0343239
HumanNSD164324nuclear receptor binding SET domain protein 1
img OMIM, Score=1000, UMLKSK CUI: C0343239
HumanSLC12A69990solute carrier family 12 (potassium/chloride transporter), member 6
img OMIM, Score=1000, UMLKSK CUI: C0343239
HumanTPM37170tropomyosin 3
img OMIM, Score=1000, UMLKSK CUI: C0343239
HumanTPM27169tropomyosin 2 (beta)
img OMIM, Score=1000, UMLKSK CUI: C0343239
HumanSOX106663SRY (sex determining region Y)-box 10
img OMIM, Score=1000, UMLKSK CUI: C0343239
HumanSNRPN6638small nuclear ribonucleoprotein polypeptide N
img OMIM, Score=666, UMLKSK CUI: C0343239
HumanSLC16A26567solute carrier family 16, member 2 (thyroid hormone transporter)
img OMIM, Score=1000, UMLKSK CUI: C0343239
HumanRYR16261ryanodine receptor 1 (skeletal)
img OMIM, Score=1000, UMLKSK CUI: C0343239
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img OMIM, Score=1000, UMLKSK CUI: C0343239
HumanNDN4692necdin, melanoma antigen (MAGE) family member
img OMIM, Score=666, UMLKSK CUI: C0343239
HumanMPZ4359myelin protein zero
img OMIM, Score=1000, UMLKSK CUI: C0343239
HumanEGR21959early growth response 2
img OMIM, Score=1000, UMLKSK CUI: C0343239
HumanCPT21376carnitine palmitoyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0343239
HumanBIN1274bridging integrator 1
img OMIM, Score=1000, UMLKSK CUI: C0343239
HumanACTA158actin, alpha 1, skeletal muscle
img OMIM, Score=1000, UMLKSK CUI: C0343239
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0343239Benign congenital hypotonia0self