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HUMAN PHENOTYPE - ANNOTATIONS
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The Human Phenotype Ontology (HPO) is downloaded weekly from
http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo
. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at
http://www.human-phenotype-ontology.org/
.
Term:
Hypoplasia of the semicircular canal
go back to main search page
Accession:
HP:0011382
browse the term
Definition:
Underdevelopment of the semicircular canal.
Synonyms:
exact_synonym:
Small semicircular canal
related_synonym:
HYPOPLASIA OF THE SEMICIRCULAR CANALS
xref:
UMLS:C3552156
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Rat (0)
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Human (4)
Chinchilla (0)
Bonobo (0)
Dog (0)
Squirrel (0)
Pig (0)
Green Monkey (0)
Naked Mole-rat (0)
All
Genes (4)
Hypoplasia of the semicircular canal
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CHD7
chromodomain helicase DNA binding protein 7
IAGP
HPO
ORPHA:138
NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
G
FOXP2
forkhead box P2
IAGP
HPO
ORPHA:251061
NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772
G
SEMA3E
semaphorin 3E
IAGP
HPO
ORPHA:138
NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139
G
SOX10
SRY-box transcription factor 10
IAGP
HPO
OMIM:609136
OMIM:611584
NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
Term paths to the root
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Path 1
Term
Annotations
Human phenotype
21564
Phenotypic abnormality
21554
Abnormality of the ear
2562
Abnormal ear morphology
1719
Abnormality of the inner ear
93
Abnormal inner ear morphology
77
Abnormal morphology of the vestibule of the inner ear
29
Abnormal semicircular canal morphology
21
Hypoplasia of the semicircular canal
4