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Details
Link-It Detail - Disease - Achondroplasia
Debug Stats
  • ### Total Build Time: 189 ms 30.680 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 586 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=6 ms Completed: 6 ms rowSize= 984 bytes
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 561 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 5.329 KB
  • CONCEPT_RELATIONSHIPS gt=155 ms Completed: 155 ms rowSize= 14.104 KB
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 7.484 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=2 ms Completed: 2 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Achondroplasia C0001080
Definition (1)
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
Semantic Types (1)
Congenital Abnormality (T019)
Parents (2)
img Osteochondrodysplasias C0029422
img Dwarfism C0013336
Children (1)
img Thanatophoric Dysplasia C0039743
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Osteochondrodysplasias C0029422
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Dwarfism C0013336
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Dwarfism C0013336
img Endocrine System Diseases C0014130img Dwarfism C00133363img Dwarfism C0013336
Relationships (70)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 7
diso_​to_​diso : 54
diso_​to_​gene : 2
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 16
expanded_​form_​of : 1
gene_​associated_​with_​disease : 2
is_​associated_​anatomic_​site_​of : 2
manifestation_​of : 35
mapped_​to : 11
use : 2
used_​for : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN66img genetic aspects C0017399
DISO_to_DISO65img Complication Aspects C1171258
DISO_to_PHEN50img genetic aspects C0017399
DISO_to_DISO42img Complication Aspects C1171258
DISO_to_CHEM31img Receptor, Fibroblast Growth Factor, Type 3 C0117718
DISO_to_PHYS16img Mutation C0026882
DISO_to_CHEM14img Fibroblast Growth Factor Receptors C0060369
DISO_to_CHEM14img Protein Tyrosine Kinase C0033681
DISO_to_PHYS14img Mutation C0026882
DISO_to_DISO12img SPINAL STENOSIS C0037944
DISO_to_CHEM10img Extracellular Matrix Protein C0079323
DISO_to_CHEM10img Glycoproteins C0017968
DISO_to_ANAT9img Chondrocyte C0225369
DISO_to_CHEM9img Glycoproteins C0017968
DISO_to_CHEM9img Receptor, Fibroblast Growth Factor, Type 3 C0117718
DISO_to_DISO9img Kyphosis C0022821
DISO_to_ANATis_associated_anatomic_site_ofimg Connective and Soft Tissue C1516798
DISO_to_ANATis_associated_anatomic_site_ofimg Skeletal bone C0262950
DISO_to_DISOmanifestation_ofimg 80% cases new mutations C1863432
DISO_to_DISOmanifestation_ofimg 99+% of the mutations are FGFR3, G380R (134934.0001) C1863433
DISO_to_DISOmapped_toimg ACG2 C0220685
DISO_to_DISOmapped_toimg ANISOSPONDYLIC CAMPTOMICROMELIC DWARFISM, ROLLAND-DESBUQUOIS TYPE C0432209
DISO_to_DISOmapped_toimg Achondrogenesis type 1A C0265273
DISO_to_DISOmapped_toimg Achondrogenesis, type 3 C2931085
DISO_to_DISOmapped_toimg Achondrogenesis, type 4 C2931086
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanFGFR32261fibroblast growth factor receptor 3
img GAD, Score=1000, Pubmed Id: 15221641, UMLKSK CUI: C0001080
img GENERIF, Score=861, Pubmed Id: 18923003, UMLKSK CUI: C0001080
img GENERIF, Score=1000, Pubmed Id: 11556601, UMLKSK CUI: C0001080
img GENERIF, Score=1000, Pubmed Id: 11754059, UMLKSK CUI: C0001080
img GENERIF, Score=827, Pubmed Id: 17624273, UMLKSK CUI: C0001080
img GENERIF, Score=804, Pubmed Id: 12921294, UMLKSK CUI: C0001080
img GENERIF, Score=1000, Pubmed Id: 15517832, UMLKSK CUI: C0001080
img OMIM, Score=1000, UMLKSK CUI: C0001080
HumanCOL1A11277collagen, type I, alpha 1
img GAD, Score=1000, Pubmed Id: 2991928, UMLKSK CUI: C0001080
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0001080Achondroplasia0self