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Details
Link-It Detail - Disease - Microphthalmos
Debug Stats
  • ### Total Build Time: 39 ms 46.141 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 242 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= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 553 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.811 KB
  • CONCEPT_RELATIONSHIPS gt=21 ms Completed: 21 ms rowSize= 13.323 KB
  • CONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 27.542 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Microphthalmos C0026010
Definition (1)
A congenital abnormality characterized by the presence of an abnormally small eye globe.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (1)
img Eye Abnormalities C0015393
Ancestral Roots
RootRoot Plus OneDepthParent
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 (58)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 5
diso_​to_​diso : 46
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 23
associated_​with : 1
classifies : 2
expanded_​form_​of : 1
isa : 3
location_​of : 1
mapped_​to : 27
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN93img genetic aspects C0017399
DISO_to_PHEN50img genetic aspects C0017399
DISO_to_DISO46img Complication Aspects C1171258
DISO_to_DISO29img Agenesis of eye C0003119
DISO_to_DISO25img Complication Aspects C1171258
DISO_to_DISO23img Abnormalities, Multiple C0000772
DISO_to_PHYS23img Mutation C0026882
DISO_to_CHEM17img Homeo Domain Proteins C0242617
DISO_to_DISO17img Agenesis of eye C0003119
DISO_to_DISO17img Cataract C0086543
DISO_to_DISO17img Coloboma C0009363
DISO_to_DISO14img Abnormalities, Multiple C0000772
DISO_to_CHEM13img Eye Proteins C0015416
DISO_to_DISO13img Cataract C0086543
DISO_to_CHEM12img TRANSCRIPTION FACTOR C0040648
DISO_to_DISO12img Coloboma C0009363
DISO_to_DISO11img Cyst C0010709
DISO_to_DISO11img Orbital Diseases C0029182
DISO_to_ANAT10img Cornea C0010031
DISO_to_ANAT10img Retina C0035298
DISO_to_CHEM9img Homeo Domain Proteins C0242617
DISO_to_ANAT8img Eye C0015392
DISO_to_CHEM8img Membrane Associated Proteins C0025252
DISO_to_ANATlocation_ofimg Eye C0015392
DISO_to_DISOmapped_toimg ANOPHTHALMIA AND PULMONARY HYPOPLASIA C1832661
Genes (43)

Species:
human : 43
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanGDF6392255growth differentiation factor 6
img GENERIF, Score=1000, Pubmed Id: 17236135, UMLKSK CUI: C0026010
HumanVSX2338917visual system homeobox 2
img GENERIF, Score=1000, Pubmed Id: 17661825, UMLKSK CUI: C0026010
HumanHYLS1219844hydrolethalus syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanDMBX1127343diencephalon/mesencephalon homeobox 1
img GENERIF, Score=1000, Pubmed Id: 17990594, UMLKSK CUI: C0026010
HumanMFRP83552membrane frizzled-related protein
img OMIM, Score=1000, UMLKSK CUI: C0026010
img GENERIF, Score=1000, Pubmed Id: 15976030, UMLKSK CUI: C0026010
HumanFKRP79147fukutin related protein
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanPORCN64840porcupine homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanSTRA664220stimulated by retinoic acid 6
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanSALL457167sal-like 4 (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanBCOR54880BCL6 corepressor
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanRAX30062retina and anterior neural fold homeobox
img GAD, Score=1000, Pubmed Id: 10932181, UMLKSK CUI: C0026010
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanPOMT229954protein-O-mannosyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanRAB3GAP122930RAB3 GTPase activating protein subunit 1 (catalytic)
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanEBP10682emopamil binding protein (sterol isomerase)
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanPOMT110585protein-O-mannosyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanRECQL49401RecQ protein-like 4
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanLARGE9215like-glycosyltransferase
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanSNX38724sorting nexin 3
img GENERIF, Score=1000, Pubmed Id: 12471201, UMLKSK CUI: C0026010
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanIKBKG8517inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanWNT37473wingless-type MMTV integration site family, member 3
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanTFAP2A7020transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
img OMIM, Score=1000, UMLKSK CUI: C0026010
HumanSOX26657SRY (sex determining region Y)-box 2
img GENERIF, Score=1000, Pubmed Id: 18831064, UMLKSK CUI: C0026010
img OMIM, Score=1000, UMLKSK CUI: C0026010
img GENERIF, Score=1000, Pubmed Id: 18039390, UMLKSK CUI: C0026010
HumanSHH6469sonic hedgehog
img OMIM, Score=1000, UMLKSK CUI: C0026010
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0026010Microphthalmos0self