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Details
Link-It Detail - Human Phenotype - Abnormality of the outer ear
Debug Stats
  • ### Total Build Time: 87 ms 32.581 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 203 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 203 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
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  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 443 bytes
  • CONCEPT_CHILDREN gt=18 ms Completed: 18 ms rowSize= 5.315 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=7 ms Completed: 7 ms rowSize= 2.082 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=47 ms Completed: 47 ms rowSize= 23.188 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.022 KB
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  • Reload Stats
Human Phenotype (1)
Abnormality of the outer ear HP:0000356
Definition (1)
An abnormality of the `external ear` (FMA:52781).
Parents (1)
img Abnormality of the ear HP:0000598
Children (16)
img Cystic lesions of the pinnae HP:0010723
img Malformation of auricle HP:0004465
img Abnormal location of ears HP:0000357
img Cartilaginous ossification of pinnae HP:0005103
img Aplasia/Hypoplasia of the external ear HP:0008772
img Telangiectasia of the ear HP:0009893
img External ear malformation HP:0008572
img Polyotia HP:0100687
img Small/rudimentary tragus, antitragus and lobule HP:0008616
img Abnormality of periauricular region HP:0000383
img Abnormality of the auditory canal HP:0000372
img Abnormality of the pinna HP:0000377
img Hypertrophic auricular cartilage HP:0008608
img Unilateral external ear deformity HP:0008605
img Abnormality of the crus of the helix HP:0009895
img Chondritis of pinna HP:0200047
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of the ear HP:0000598
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of the ear HP:0000598
Genes (564)

Species:
human : 564
Page Size
Current 25
  Page 1 of 23
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanPAURT1101669760Preauricular tag, isolated, autosomal dominant, 1
img HP RolledUp, OMIM ID: 610420
HumanOTDD100885788Otodental dysplasia chromsome deletion syndrome
img HP RolledUp, OMIM ID: 166750
HumanNMLFS100885786Nablus mask-like facial syndrome
img HP RolledUp, OMIM ID: 608156
HumanDEL17Q12100884130Chromosome 17q12 deletion syndrome
img HP RolledUp, OMIM ID: 614527
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
HumanCCCSX100820758Cerebral-cerebellar-coloboma syndrome, X-linked
img HP RolledUp, OMIM ID: 300864
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
HumanMYMY4100653379Moyamoya disease 4
img HP RolledUp, OMIM ID: 300845
HumanDEL1P32P31100532738Chromosome 1p32-p31 deletion syndrome
img HP RolledUp, OMIM ID: 613735
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
HumanFWS100529224Forsythe-Wakeling syndrome
img HP RolledUp, OMIM ID: 613606
HumanDEL6Q11Q14100529221Chromosome 6q11-q14 deletion syndrome
img HP RolledUp, OMIM ID: 613544
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:0000356Abnormality of the outer ear0self