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Details
Link-It Detail - Disease - Dwarfism
Debug Stats
  • ### Total Build Time: 197 ms 43.880 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 314 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 343 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=1 ms Completed: 0 ms rowSize= 1.416 KB
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 3.534 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 4.113 KB
  • CONCEPT_RELATIONSHIPS gt=179 ms Completed: 179 ms rowSize= 14.219 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 18.603 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.143 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Dwarfism C0013336
Definition (1)
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Genetic Diseases, Inborn C0950123
img Bone Diseases, Developmental C0005941
img Endocrine System Diseases C0014130
Children (8)
img Congenital Hypothyroidism C0010308
img Mulibrey Nanism C0524582
img Achondroplasia C0001080
img Cockayne Syndrome C0009207
img Silver-Russell Syndrome C0175693
img Dwarfism, Pituitary C0013338
img Weill-Marchesani Syndrome C0265313
img Laron Syndrome C0271568
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
img Musculoskeletal Diseases C0026857img Bone Diseases C00059404img Bone Diseases, Developmental C0005941
img Endocrine System Diseases C0014130img Bone Diseases C00059402img Endocrine System Diseases C0014130
Relationships (188)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 76
diso_​to_​diso : 101
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 39
associated_​with : 1
isa : 30
location_​of : 1
mapped_​to : 48
may_​treat : 66
related_​to : 2
replaces : 1
Page Size
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Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN129img genetic aspects C0017399
DISO_to_PHEN109img genetic aspects C0017399
DISO_to_DISO47img Abnormalities, Multiple C0000772
DISO_to_DISO38img Complication Aspects C1171258
DISO_to_DISO32img Abnormalities, Multiple C0000772
DISO_to_DISO30img MICROCEPHALY C0025958
DISO_to_DISO27img Complication Aspects C1171258
DISO_to_CHEM26img Human Growth Hormone C0169964
DISO_to_DISO25img Osteochondrodysplasias C0029422
DISO_to_DISO21img Intellectual Disability C0025362
DISO_to_PHYS18img Mutation C0026882
DISO_to_CHEM16img Growth Hormone C0037663
DISO_to_DISO14img Osteochondrodysplasias C0029422
DISO_to_DISO13img Intellectual Disability C0025362
DISO_to_PHYS13img Body Height C0005890
DISO_to_PHYS12img Mutation C0026882
DISO_to_CHEM11img Insulin-Like Growth Factor I C0021665
DISO_to_DISO11img Abnormalities, Craniofacial C0376634
DISO_to_DISO11img BONE DEVELOPMENT DISORDER C0005941
DISO_to_CHEM10img Human Growth Hormone C0169964
DISO_to_DISO10img Fetal Growth Retardation C0015934
DISO_to_ANAT9img In Blood C0005768
DISO_to_CHEM9img Growth Hormone C0037663
DISO_to_DISO9img BONE DEVELOPMENT DISORDER C0005941
DISO_to_CHEM8img Homeo Domain Proteins C0242617
Genes (37)

Species:
human : 37
Page Size
Current 25
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SpeciesGeneGeneIdGene NameEvidence
HumanIYD389434iodotyrosine deiodinase
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanCSMD3114788CUB and Sushi multiple domains 3
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanLEPRE164175leucine proline-enriched proteoglycan (leprecan) 1
img OMIM, Score=1000, UMLKSK CUI: C0013336
HumanDUOX250506dual oxidase 2
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanDLL310683delta-like 3 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0013336
HumanPREPL9581prolyl endopeptidase-like
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanHIP1R9026huntingtin interacting protein 1 related
img GENERIF, Score=1000, Pubmed Id: 17452370, UMLKSK CUI: C0013336
HumanPAX87849paired box 8
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanTSHR7253thyroid stimulating hormone receptor
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanTPO7173thyroid peroxidase
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanTNF7124tumor necrosis factor
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanNKX2-17080
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanTG7038thyroglobulin
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanSTC16781stanniocalcin 1
img GENERIF, Score=812, Pubmed Id: 11861508, UMLKSK CUI: C0013336
HumanSOX36658SRY (sex determining region Y)-box 3
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanSRSF26427serine/arginine-rich splicing factor 2
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanSRSF16426serine/arginine-rich splicing factor 1
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanTAS2R385726taste receptor, type 2, member 38
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanPROP15626PROP paired-like homeobox 1
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanPEX75191peroxisomal biogenesis factor 7
img OMIM, Score=1000, UMLKSK CUI: C0013336
HumanNOS24843nitric oxide synthase 2, inducible
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanTRIM374591tripartite motif containing 37
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanLMNA4000lamin A/C
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanLEP3952leptin
INFERRED, Score=800, UMLKSK CUI: C0013336
HumanIGF13479insulin-like growth factor 1 (somatomedin C)
INFERRED, Score=800, UMLKSK CUI: C0013336
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0013336Dwarfism0self