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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:
2-4 toe syndactyly
go back to main search page
Accession:
HP:0010714
browse the term
Definition:
Syndactyly with fusion of toes two to four.
Synonyms:
exact_synonym:
Syndactyly of toes 2, 3 and 4; Syndactyly toes 2-4; Webbed 2nd-4th toes
alt_id:
HP:0005642; HP:0005708
xref:
UMLS:C4021234
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Rat (0)
Mouse (0)
Human (3)
Chinchilla (0)
Bonobo (0)
Dog (0)
Squirrel (0)
Pig (0)
Green Monkey (0)
Naked Mole-rat (0)
All
Genes (3)
2-4 toe syndactyly
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CKAP2L
cytoskeleton associated protein 2 like
IAGP
HPO
OMIM:272440
NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664
G
IFT43
intraflagellar transport 43
IAGP
HPO
OMIM:614099
NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
G
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
IAGP
HPO
ORPHA:276280
NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093
Term paths to the root
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Path 1
Term
Annotations
Human phenotype
21554
Phenotypic abnormality
21544
Abnormality of limbs
2585
Abnormality of the lower limb
1864
Abnormal foot morphology
1536
Abnormal toe morphology
726
Toe syndactyly
237
2-4 toe syndactyly
3
Path 2
Term
Annotations
Human phenotype
21554
Phenotypic abnormality
21544
Abnormality of the musculoskeletal system
4416
Abnormality of the skeletal system
3652
Abnormal skeletal morphology
3532
Abnormal appendicular skeleton morphology
1997
Abnormal limb bone morphology
1866
Abnormal digit morphology
1635
Syndactyly
417
Toe syndactyly
237
2-4 toe syndactyly
3