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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:
Broad 2nd toe
go back to main search page
Accession:
HP:0100040
browse the term
Definition:
A broad appearance of the second toe.
Comment:
Note that an apparent broad appearance might be due to a hidden duplication.
Synonyms:
exact_synonym:
Wide 2nd toe
xref:
UMLS:C4022381
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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)
Broad 2nd toe
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
CEP295
centrosomal protein 295
IAGP
HPO
MIM:620767
NCBI chr11:93,661,682...93,730,358
Ensembl chr11:93,661,682...93,730,358
G
PIGL
phosphatidylinositol glycan anchor biosynthesis class L
IAGP
HPO
MIM:280000
NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
G
SMARCA2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
IAGP
HPO
MIM:601358
NCBI chr 9:2,015,347...2,193,620
Ensembl chr 9:1,980,290...2,193,624
Term paths to the root
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Path 1
Term
Annotations
Human phenotype
74032
Phenotypic abnormality
73727
Abnormality of limbs
3148
Abnormality of the lower limb
2185
Abnormal foot morphology
1565
Abnormal toe morphology
740
Broad toe
87
Broad 2nd toe
3
Path 2
Term
Annotations
Human phenotype
74032
Phenotypic abnormality
73727
Abnormality of the musculoskeletal system
9766
Abnormality of the skeletal system
8650
Abnormal skeletal morphology
8066
Abnormal appendicular skeleton morphology
2150
Abnormal limb bone morphology
1983
Abnormal digit morphology
1704
Abnormal toe morphology
740
Abnormal second toe morphology
15
Broad 2nd toe
3