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Details
Link-It Detail - Human Phenotype - Abnormality of the ear
Debug Stats
  • ### Total Build Time: 669 ms 29.746 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 197 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 257 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
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=1 ms Completed: 1 ms rowSize= 769 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 1.729 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.083 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=667 ms Completed: 667 ms rowSize= 23.579 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.017 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of the ear HP:0000598
Definition (1)
Either a morphological abnormality or hearing deficit. This should be split more cleanly in the future.
Parents (2)
img Phenotypic abnormality HP:0000118
img Abnormality of the head HP:0000234
Children (5)
img Abnormality of the middle ear HP:0000370
img Abnormality of the inner ear HP:0000359
img Aplasia/Hypoplasia of the ear HP:0008771
img Abnormality of the outer ear HP:0000356
img Hearing abnormality HP:0000364
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001183img Phenotypic abnormality HP:0000118
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the head HP:0000234
Genes (1020)

Species:
human : 1020
Page Size
Current 25
  Page 1 of 41
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Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanPAURT1101669760Preauricular tag, isolated, autosomal dominant, 1
img HP RolledUp, OMIM ID: 610420
HumanUSH1K101180907Usher syndrome 1K (autosomal recessive)
img HP RolledUp, OMIM ID: 614990
HumanDELXQ21100887743Choroideremia, deafness, and mental retardation
img HP RolledUp, OMIM ID: 303110
HumanOTDD100885788Otodental dysplasia chromsome deletion syndrome
img HP RolledUp, OMIM ID: 166750
HumanDEL8Q12Q21100885787Bor-Duane hydrocephalus contiguous gene syndrome
img HP IEA, OMIM ID: 600257
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
HumanSPG46100861438spastic paraplegia 46 (autosomal recessive)
img HP RolledUp, OMIM ID: 614409
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
HumanHPPD100682260Hypertelorism, preauricular sinus, punctal pits, and deafness
img HP RolledUp, OMIM ID: 614187
HumanDFNB81100653390deafness, autosomal recessive 81
img HP RolledUp, OMIM ID: 614129
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
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000598Abnormality of the ear0self