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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:
Short 4th toe
go back to main search page
Accession:
HP:0008093
browse the term
Definition:
Underdevelopment (hypoplasia) of the fourth toe.
Synonyms:
exact_synonym:
Short fourth toe
xref:
UMLS:C1862083
show annotations for term's descendants Sort by:
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reference
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Rat (0)
Mouse (0)
Human (6)
Chinchilla (0)
Bonobo (0)
Dog (0)
Squirrel (0)
Pig (0)
Green Monkey (0)
Naked Mole-rat (0)
All
Genes (6)
Short 4th toe
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ADNP
activity dependent neuroprotector homeobox
IAGP
HPO
MIM:615873
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
G
COX4I1
cytochrome c oxidase subunit 4I1
IAGP
HPO
MIM:619060
NCBI chr16:85,799,695...85,807,068
Ensembl chr16:85,798,633...85,807,068
G
ERI1
exoribonuclease 1
IAGP
HPO
MIM:620662
NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746
G
SVBP
small vasohibin binding protein
IAGP
HPO
MIM:618569
NCBI chr 1:42,807,052...42,817,397
Ensembl chr 1:42,807,052...42,817,397
G
TBX3
T-box transcription factor 3
IAGP
HPO
MIM:181450
NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
G
WASF1
WASP family member 1
IAGP
HPO
MIM:618707
NCBI chr 6:110,099,819...110,179,670
Ensembl chr 6:110,099,819...110,180,004
Term paths to the root
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Path 1
Term
Annotations
Human phenotype
73897
Phenotypic abnormality
73592
Abnormality of limbs
3147
Abnormality of the lower limb
2184
Abnormal foot morphology
1564
Abnormal toe morphology
740
Aplasia/Hypoplasia of toe
139
Short toe
113
Short 4th toe
6
Path 2
Term
Annotations
Human phenotype
73897
Phenotypic abnormality
73592
Abnormality of the musculoskeletal system
9725
Abnormality of the skeletal system
8610
Abnormal skeletal morphology
8026
Aplasia/hypoplasia involving the skeleton
1248
Aplasia/hypoplasia of the extremities
740
Aplasia/hypoplasia involving bones of the extremities
693
Aplasia/hypoplasia involving bones of the lower limbs
402
Aplasia/Hypoplasia involving bones of the feet
300
Aplasia/Hypoplasia of toe
139
Short toe
113
Short 4th toe
6