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Details
Link-It Detail - Human Phenotype - Abnormality of globe location or size
Debug Stats
  • ### Total Build Time: 61 ms 34.363 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 212 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 14 bytes
  • CONCEPT_NAMESPACE gt=0 Completed: 0 ms rowSize= 168 bytes
  • CONCEPT_PARENTS gt=5 ms Completed: 5 ms rowSize= 1.089 KB
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 4.503 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 3.951 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=42 ms Completed: 42 ms rowSize= 23.273 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.031 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of globe location or size HP:0000489
Namespace (1)
medical_genetics
Parents (3)
img Abnormality of the orbital region HP:0000315
img Abnormality of the eye HP:0000478
img Abnormality of the ocular region HP:0000284
Children (14)
img Hypertelorism HP:0000316
img Increased axial globe length HP:0007800
img Cryptophthalmos HP:0001126
img Shallow orbits HP:0000586
img Small eyes HP:0001143
img Bilateral microphthalmos HP:0007633
img Hypotelorism HP:0000601
img Cyclopia HP:0009914
img Deeply set eye HP:0000490
img Large eyes HP:0001090
img Plagiocephaly (asymmetry of orbits) HP:0001121
img Anterior bulging of the globe HP:0000644
img Proptosis HP:0000520
img Asymmetry in eye size HP:0010725
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the orbital region HP:0000315
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the eye HP:0000478
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the eye HP:0000478
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the ocular region HP:0000284
Genes (505)

Species:
human : 505
Page Size
Current 25
  Page 1 of 21
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanNMLFS100885786Nablus mask-like facial syndrome
img HP RolledUp, OMIM ID: 608156
HumanDUP17Q12100884129Chromosome 17q12 duplication syndrome
img HP RolledUp, OMIM ID: 614526
HumanDUPXQ27.3Q28100874533
img HP RolledUp, OMIM ID: 300869
HumanC16DELQ22100874527Chromosome 16q22 deletion syndrome
img HP RolledUp, OMIM ID: 614541
HumanCATMANS100862706Catel-Manzke syndrome
img HP RolledUp, OMIM ID: 302380
HumanDEL17Q11.2100852404
img HP RolledUp, OMIM ID: 613675
HumanCPBHM100820762Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia
img HP RolledUp, OMIM ID: 300863
HumanMRXSCS100820761Mental retardation, X-linked, syndromic, Chudley-Schwartz type
img HP RolledUp, OMIM ID: 300861
HumanDEL8Q21.11100689491
img HP RolledUp, OMIM ID: 614230
HumanHPPD100682260Hypertelorism, preauricular sinus, punctal pits, and deafness
img HP RolledUp, OMIM ID: 614187
HumanDEL3PTERP251006533853p- syndrome
img HP RolledUp, OMIM ID: 613792
HumanDEL13Q14100653382Chromosome 13q14 deletion syndrome
img HP RolledUp, OMIM ID: 613884
HumanMYMY4100653379Moyamoya disease 4
img HP RolledUp, OMIM ID: 300845
HumanDEL1Q41Q42100529242Chromosome 1q41-q42 deletion syndrome
img HP RolledUp, OMIM ID: 612530
HumanFWS100529224Forsythe-Wakeling syndrome
img HP RolledUp, OMIM ID: 613606
HumanDEL6Q11Q14100529221Chromosome 6q11-q14 deletion syndrome
img HP RolledUp, OMIM ID: 613544
HumanMMRFCGU100529147Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations
img HP RolledUp, OMIM ID: 613680
HumanDER22T11-22100529146
img HP RolledUp, OMIM ID: 609029
HumanDEL4Q21100528026Chromosome 4q21 deletion syndrome
img HP RolledUp, OMIM ID: 613509
HumanDEL16P12.1P11.2100526742
img HP RolledUp, OMIM ID: 613604
HumanDEL8Q13100526741Mesomelia-synostoses syndrome
img HP RolledUp, OMIM ID: 600383
HumanDEL14Q11Q22100505392Chromosome 14q11-q22 deletion syndrome
img HP RolledUp, OMIM ID: 613457
HumanDEL6Q24Q25100505391Chromosome 6q25-q25 deletion syndrome
img HP RolledUp, OMIM ID: 612863
HumanDEL15Q24100502567Chromosome 15q24 deletion syndrome
img HP RolledUp, OMIM ID: 613406
HumanRCHTS100462676Roifman-Chitayat syndrome
img HP RolledUp, OMIM ID: 613328
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000489Abnormality of globe location or size0self