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Details
Link-It Detail - Disease - Laurence-Moon Syndrome
Debug Stats
  • ### Total Build Time: 154 ms 15.771 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 488 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=7 ms Completed: 7 ms rowSize= 998 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 2.845 KB
  • CONCEPT_RELATIONSHIPS gt=126 ms Completed: 126 ms rowSize= 9.665 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=4 ms Completed: 4 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Laurence-Moon Syndrome C0023138
Definition (1)
An autosomal recessive condition characterized by hypogonadism; spinocerebellar degeneration; MENTAL RETARDATION; RETINITIS PIGMENTOSA; and OBESITY. This syndrome was previously referred to as Laurence-Moon-Biedl syndrome until BARDET-BIEDL SYNDROME was identified as a distinct entity. (From N Engl J Med. 1989 Oct 12;321(15):1002-9)
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (2)
img Abnormalities, Multiple C0000772
img Hypothalamic Diseases C0020655
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Hypothalamic Diseases C0020655
Relationships (23)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 20
diso_​to_​phen : 1


Relationships:
none : 10
manifestation_​of : 10
permuted_​term_​of : 1
used_​for : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT1img Cervix Uteri C0007874
DISO_to_ANAT1img Vagina C0042232
DISO_to_DISO1img 7-124-126 TUBULOINTERSTITIAL DISEASES C0027707
DISO_to_DISO1img Complication Aspects C1171258
DISO_to_DISO1img Gait C0016928
DISO_to_DISO1img Language Disorders C0023015
DISO_to_DISO1img Morbid Obesities C0028756
DISO_to_DISO1img Refractive Errors C0034951
DISO_to_DISO1img Strabismus C0038379
DISO_to_PHEN1img genetic aspects C0017399
DISO_to_DISOmanifestation_ofimg Ataxia C0004134
DISO_to_DISOmanifestation_ofimg Choroidal atrophy C0423450
DISO_to_DISOmanifestation_ofimg Congenital hypoplasia of penis C0266435
DISO_to_DISOused_forimg Hereditary Diseases C0019247
DISO_to_DISOmanifestation_ofimg Hypoplasia of scrotum C0431659
DISO_to_DISOused_forimg Intellectual Disability C0025362
DISO_to_DISOpermuted_term_ofimg Laurence-Moon Syndrome C0023138
DISO_to_DISOmanifestation_ofimg No obesity C1855532
DISO_to_DISOmanifestation_ofimg No polydactyly C1855533
DISO_to_DISOmanifestation_ofimg Nystagmus C0028738
DISO_to_DISOmanifestation_ofimg Retinitis Pigmentosa C0035334
DISO_to_DISOmanifestation_ofimg Short stature C0349588
DISO_to_DISOmanifestation_ofimg Spastic Paraplegia C0037772
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0023138Laurence-Moon Syndrome0self