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Details
Link-It Detail - Disease - Hydrophthalmos
Debug Stats
  • ### Total Build Time: 132 ms 23.940 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 351 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=2 ms Completed: 2 ms rowSize= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 1.401 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=17 ms Completed: 17 ms rowSize= 5.401 KB
  • CONCEPT_RELATIONSHIPS gt=69 ms Completed: 69 ms rowSize= 7.010 KB
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 8.042 KB
  • CONCEPT_XREFS gt=14 ms Completed: 14 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hydrophthalmos C0020302
Definition (1)
Congenital open-angle glaucoma that results from dysgenesis of the angle structures accompanied by increased intraocular pressure and enlargement of the eye. Treatment is both medical and surgical.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (3)
img Glaucoma, Open-Angle C0017612
img Infant, Newborn, Diseases C0021290
img Eye Abnormalities C0015393
Ancestral Roots
RootRoot Plus OneDepthParent
img Eye Diseases C0015397img Ocular Hypertension C00288405img Glaucoma, Open-Angle C0017612
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Infant, Newborn, Diseases C00212903img Infant, Newborn, Diseases C0021290
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Eye Abnormalities C0015393
img Eye Diseases C0015397img Eye Abnormalities C00153933img Eye Abnormalities C0015393
Relationships (13)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 1
diso_​to_​diso : 7
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 5
associated_​with : 1
classifies : 2
is_​associated_​anatomic_​site_​of : 1
location_​of : 2
mapped_​to : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN15img genetic aspects C0017399
DISO_to_DISO8img Complication Aspects C1171258
DISO_to_PHYS8img Mutation C0026882
DISO_to_CHEM6img Cytochrome P-450 Enzyme System C0010762
DISO_to_DISO6img Glaucoma C0017601
DISO_to_ANATlocation_ofimg Cornea C0010031
DISO_to_ANATis_associated_anatomic_site_ofimg Eye C0015392
DISO_to_ANATlocation_ofimg Fibrous tunic of eye structure C0459555
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOassociated_withimg Congenital hypertrophy C0332887
DISO_to_DISOmapped_toimg Hydrophthalmos C0020302
DISO_to_DISOclassifiesimg Other and unspecified congenital anomalies C0158795
DISO_to_DISOmapped_toimg Primary congenital glaucoma C1533041
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanTWIST17291twist basic helix-loop-helix transcription factor 1
img OMIM, Score=1000, UMLKSK CUI: C0020302
HumanMYH94627myosin, heavy chain 9, non-muscle
img OMIM, Score=1000, UMLKSK CUI: C0020302
HumanFOXC12296forkhead box C1
img OMIM, Score=1000, UMLKSK CUI: C0020302
img GENERIF, Score=1000, Pubmed Id: 18484311, UMLKSK CUI: C0020302
HumanFGFR22263fibroblast growth factor receptor 2
img OMIM, Score=1000, UMLKSK CUI: C0020302
HumanCYP1B11545cytochrome P450, family 1, subfamily B, polypeptide 1
img GENERIF, Score=1000, Pubmed Id: 12567107, UMLKSK CUI: C0020302
img GENERIF, Score=1000, Pubmed Id: 11558822, UMLKSK CUI: C0020302
img GENERIF, Score=1000, Pubmed Id: 18537981, UMLKSK CUI: C0020302
img GENERIF, Score=734, Pubmed Id: 14729846, UMLKSK CUI: C0020302
img OMIM, Score=1000, UMLKSK CUI: C0020302
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0020302Hydrophthalmos0self