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Details
Link-It Detail - Human Phenotype - Abnormality of the inner ear
Debug Stats
  • ### Total Build Time: 59 ms 32.281 KB
  • CONCEPT_NAME gt=16 ms Completed: 16 ms rowSize= 203 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 200 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=0 Completed: 0 ms rowSize= 765 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 2.717 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 3.925 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=38 ms Completed: 38 ms rowSize= 23.332 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.022 KB
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  • Reload Stats
Human Phenotype (1)
Abnormality of the inner ear HP:0000359
Definition (1)
An abnormality of the `inner ear` (FMA:60909).
Parents (2)
img Abnormality of the ear HP:0000598
img Hearing abnormality HP:0000364
Children (8)
img Morphological abnormality of the inner ear HP:0011390
img Malformed ossicles HP:0001759
img Abnormality of the stapes HP:0008628
img Sensorineural hearing impairment HP:0000407
img Aplasia/Hypoplasia of the inner ear HP:0008774
img Abnormality of cochlea HP:0000375
img Vestibular dysfunction HP:0001751
img Functional abnormality of the inner ear HP:0011389
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
img All HP:0000001img Phenotypic abnormality HP:00001185img Hearing abnormality HP:0000364
img All HP:0000001img Phenotypic abnormality HP:00001187img Hearing abnormality HP:0000364
Genes (416)

Species:
human : 416
Page Size
Current 25
  Page 1 of 17
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Current 1
SpeciesGeneGeneIdGene NameEvidence
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
HumanDEL17Q12100884130Chromosome 17q12 deletion syndrome
img HP RolledUp, OMIM ID: 614527
HumanDFNB81100653390deafness, autosomal recessive 81
img HP RolledUp, OMIM ID: 614129
HumanDEL6Q24Q25100505391Chromosome 6q25-q25 deletion syndrome
img HP RolledUp, OMIM ID: 612863
HumanSPAX3100379201Ataxia, spastic, 3, autosomal recessive
img HP RolledUp, OMIM ID: 611390
HumanSCA31100312950spinocerebellar ataxia 31
img HP RolledUp, OMIM ID: 117210
HumanDEL6PTER100270803Chromosome 6pter deletion syndrome
img HP RolledUp, OMIM ID: 612582
HumanDEL2P16.1-P15100240740
img HP RolledUp, OMIM ID: 612513
HumanDEL1P36100240737Chromosome 1p36 deletion syndrome
img HP RolledUp, OMIM ID: 607872
HumanDEL11P15P14100240736Chromosome 11p15-p14 deletion syndrome
img HP RolledUp, OMIM ID: 606528
HumanDEL15Q15.3100240731
img HP RolledUp, OMIM ID: 611102
HumanDEL1Q21100217370Chromosome 1q21.1 deletion syndrome
img HP RolledUp, OMIM ID: 612474
HumanDEL18Q100216483Chromosome 18q deletion syndrome
img HP RolledUp, OMIM ID: 601808
HumanEA7100188859Episodic ataxia, type 7
img HP RolledUp, OMIM ID: 611907
HumanC22DDELS100188856Chromosome 22q11.2 deletion syndrome, distal
img HP RolledUp, OMIM ID: 611867
HumanFMTLE100188848Epilepsy, familial mesial temporal lobe
img HP RolledUp, OMIM ID: 611630
HumanOTSC8100151644otosclerosis 8
img HP RolledUp, OMIM ID: 612096
HumanSHFM3100049542Split-hand/foot malformation 3
img HP RolledUp, OMIM ID: 246560
HumanEA3780905Episodic ataxia, type 3
img HP RolledUp, OMIM ID: 606554
HumanAUNX1751798auditory neuropathy, X-linked recessive 1
img HP RolledUp, OMIM ID: 300614
HumanDFNB68751609deafness, autosomal recessive 68
img HP RolledUp, OMIM ID: 610419
HumanSCAX3727715spinocerebellar ataxia, X-linked 3
img HP RolledUp, OMIM ID: 301790
HumanDFNY1724074deafness, Y-linked 1
img HP RolledUp, OMIM ID: 400043
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0000359Abnormality of the inner ear0self