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Details
Link-It Detail - Disease - Laron Syndrome
Debug Stats
  • ### Total Build Time: 91 ms 18.614 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 486 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= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=15 ms Completed: 15 ms rowSize= 544 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.057 KB
  • CONCEPT_RELATIONSHIPS gt=41 ms Completed: 41 ms rowSize= 5.898 KB
  • CONCEPT_GENES gt=12 ms Completed: 12 ms rowSize= 5.965 KB
  • CONCEPT_XREFS gt=13 ms Completed: 13 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Laron Syndrome C0271568
Definition (1)
An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR I by GROWTH HORMONE. Laron syndrome is not a form of primary pituitary dwarfism (GROWTH HORMONE DEFICIENCY DWARFISM) but the result of mutation of the human GHR gene on chromosome 5.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Dwarfism C0013336
Ancestral Roots
RootRoot Plus OneDepthParent
img Endocrine System Diseases C0014130img Dwarfism C00133363img Dwarfism C0013336
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Dwarfism C0013336
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Dwarfism C0013336
Relationships (11)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 5
diso_​to_​phen : 2


Relationships:
none : 6
isa : 2
manifestation_​of : 1
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN30img genetic aspects C0017399
DISO_to_CHEM28img Insulin-Like Growth Factor I C0021665
DISO_to_CHEM16img Growth Hormone Receptor C0034839
DISO_to_PHEN14img genetic aspects C0017399
DISO_to_ANAT13img In Blood C0005768
DISO_to_CHEM10img Insulin-Like Growth Factor I C0021665
DISO_to_DISOmanifestation_ofimg Delayed menarche C0949173
DISO_to_DISOmapped_toimg GROWTH HORMONE INSENSITIVITY DUE TO POSTRECEPTOR DEFECT C1855548
DISO_to_DISOisaimg Growth hormone receptor abnormality C0342577
DISO_to_DISOisaimg Growth hormone receptor absent C0342576
DISO_to_DISOpermuted_term_ofimg Laron Syndrome C0271568
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanIGF13479insulin-like growth factor 1 (somatomedin C)
img GAD, Score=1000, Pubmed Id: 2567724, UMLKSK CUI: C0271568
HumanGHR2690growth hormone receptor
img GENERIF, Score=1000, Pubmed Id: 18404972, UMLKSK CUI: C0271568
img GENERIF, Score=1000, Pubmed Id: 17598975, UMLKSK CUI: C0271568
img GENERIF, Score=1000, Pubmed Id: 17350302, UMLKSK CUI: C0271568
img GENERIF, Score=1000, Pubmed Id: 17706034, UMLKSK CUI: C0271568
HumanGH12688growth hormone 1
img GENERIF, Score=1000, Pubmed Id: 18462969, UMLKSK CUI: C0271568
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0271568Laron Syndrome0self