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Details
Link-It Detail - Human Phenotype - Abnormality of the periorbital region
Debug Stats
  • ### Total Build Time: 46 ms 31.172 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 212 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 220 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 769 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 2.669 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 3.008 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=37 ms Completed: 37 ms rowSize= 23.146 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.031 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the periorbital region HP:0000606
Definition (1)
An abnormality of the region situated around the orbit of the eye.
Parents (2)
img Abnormality of the face HP:0000271
img Abnormality of the eye HP:0000478
Children (8)
img Periorbital edema HP:0100539
img Bitemporal forceps marks HP:0011336
img Periorbital wrinkles HP:0000607
img Periorbital hyperpigmentation HP:0001106
img Abnormality of the eyelid HP:0000492
img Abnormality of the eyebrow HP:0000534
img Underorbital skin creases HP:0007796
img Periorbital fullness HP:0000629
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the face HP:0000271
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
Genes (605)

Species:
human : 605
Page Size
Current 25
  Page 1 of 25
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanECTD7101101771Ectodermal dysplasia 7, hair/nail type
img HP RolledUp, OMIM ID: 614929
HumanECTD8101101768Ectodermal dysplasia 8, hair/tooth/nail type
img HP RolledUp, OMIM ID: 602401
HumanNMLFS100885786Nablus mask-like facial syndrome
img HP RolledUp, OMIM ID: 608156
HumanDYT21100885773dystonia 21, torsion (autosomal dominant)
img HP RolledUp, OMIM ID: 614588
HumanDEL17Q12100884130Chromosome 17q12 deletion syndrome
img HP RolledUp, OMIM ID: 614527
HumanDUP17Q12100884129Chromosome 17q12 duplication syndrome
img HP RolledUp, OMIM ID: 614526
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
HumanMRXSCS100820761Mental retardation, X-linked, syndromic, Chudley-Schwartz type
img HP RolledUp, OMIM ID: 300861
HumanDEL2Q23.1100820633
img HP RolledUp, OMIM ID: 156200
HumanMLSM7100820631Myelodysplasia and leukemia syndrome with monosomy 7
img HP RolledUp, OMIM ID: 252270
HumanTET18P100750329Tetrasomy 18p
img HP RolledUp, OMIM ID: 614290
HumanDEL8Q21.11100689491
img HP RolledUp, OMIM ID: 614230
HumanDEL3PTERP251006533853p- syndrome
img HP RolledUp, OMIM ID: 613792
HumanDEL13Q14100653382Chromosome 13q14 deletion syndrome
img HP RolledUp, OMIM ID: 613884
HumanDEL17P13.1100653374
img HP RolledUp, OMIM ID: 613776
HumanKONDS100653373Kondoh syndrome
img HP RolledUp, OMIM ID: 606242
HumanDEL1Q41Q42100529242Chromosome 1q41-q42 deletion syndrome
img HP RolledUp, OMIM ID: 612530
HumanTRIP4Q32.1Q32.2100529228
img HP RolledUp, OMIM ID: 613603
HumanDUP17Q21.31100529226
img HP RolledUp, OMIM ID: 613533
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
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000606Abnormality of the periorbital region0self