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Details
Link-It Detail - Human Phenotype - Abnormality of the middle ear ossicles
Debug Stats
  • ### Total Build Time: 16 ms 14.262 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 213 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 373 bytes
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  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 14 bytes
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  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 6.017 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.032 KB
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Human Phenotype (1)
Abnormality of the middle ear ossicles HP:0004452
Definition (1)
An abnormality of the middle-ear ossicles (three small bones called malleus, incus, and stapes) that are contained within the middle ear and serve to transmit sounds from the air to the fluid-filled labyrinth (cochlea).
Parents (2)
img Abnormality of the middle ear HP:0000370
img Morphological abnormality of the middle ear HP:0008609
Children (5)
img Abnormality of the stapes HP:0008628
img Fusion of middle ear ossicles HP:0005473
img Aplasia of the middle ear ossicles HP:0009910
img Abnormality of the incus HP:0011453
img Abnormality of the malleus HP:0011454
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of the middle ear HP:0000370
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of the middle ear HP:0000370
img All HP:0000001img Phenotypic abnormality HP:00001186img Morphological abnormality of the middle ear HP:0008609
img All HP:0000001img Phenotypic abnormality HP:00001188img Morphological abnormality of the middle ear HP:0008609
Genes (13)

Species:
human : 13
SpeciesGeneGeneIdGene NameEvidence
HumanOTSC8100151644otosclerosis 8
HumanOTSC7399516otosclerosis 7
HumanOTSC4286751otosclerosis 4
HumanOTSC3170532otosclerosis 3
HumanGJB610804gap junction protein, beta 6, 30kDa
HumanNOG9241noggin
HumanGDF58200growth differentiation factor 5
HumanTFAP2A7020transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
img HP RolledUp, OMIM ID: 113620
HumanPOU3F45456POU class 3 homeobox 4
HumanOTSC15012otosclerosis 1
HumanGJB22706gap junction protein, beta 2, 26kDa
HumanCOL1A21278collagen, type I, alpha 2
HumanCOL1A11277collagen, type I, alpha 1
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004452Abnormality of the middle ear ossicles0self