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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:
Absent middle phalanx of the 3rd toe
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Accession:
HP:0100381
browse the term
Definition:
Developmental aplasia of the middle phalanx of third toe.
Synonyms:
exact_synonym:
Absent middle bone of the 3rd toe; Absent middle phalanx of the third toe; Aplasia of the middle phalanx of the 3rd toe
xref:
UMLS:C4021010
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Genes (1)
Absent middle phalanx of the 3rd toe
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
EOGT
EGF domain specific O-linked N-acetylglucosamine transferase
IAGP
HPO
MIM:615297
NCBI chr 3:68,975,225...69,013,684
Ensembl chr 3:68,975,217...69,013,684
Term paths to the root
one shortest
all shortest
one longest
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one shortest and longest
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Path 1
Term
Annotations
Human phenotype
73832
Phenotypic abnormality
73527
Abnormality of limbs
3148
Abnormality of the lower limb
2185
Abnormal lower limb bone morphology
847
Aplasia/hypoplasia involving bones of the lower limbs
402
Aplasia involving bones of the lower limbs
16
Aplasia of the phalanges of the toes
8
Aplasia of the phalanges of the 3rd toe
2
Absent middle phalanx of the 3rd toe
1
Path 2
Term
Annotations
Human phenotype
73832
Phenotypic abnormality
73527
Abnormality of the musculoskeletal system
9723
Abnormality of the skeletal system
8607
Abnormal skeletal morphology
8023
Abnormal appendicular skeleton morphology
2149
Abnormal limb bone morphology
1982
Abnormal lower limb bone morphology
847
Aplasia/hypoplasia involving bones of the lower limbs
402
Aplasia/Hypoplasia involving bones of the feet
300
Aplasia/Hypoplasia of toe
139
Absent toe
70
Aplasia/Hypoplasia of the 3rd toe
4
Aplasia of the phalanges of the 3rd toe
2
Absent middle phalanx of the 3rd toe
1