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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:
Aplasia/Hypoplasia of the 2nd toe
go back to main search page
Accession:
HP:0010325
browse the term
Synonyms:
exact_synonym:
Absent/small 2nd toe; Absent/underdeveloped 2nd toe
xref:
UMLS:C4023902
show annotations for term's descendants Sort by:
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All
Genes (2)
Absent distal phalanx of the 2nd toe
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
KCNN3
potassium calcium-activated channel subfamily N member 3
IAGP
HPO
MIM:618658
NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
MAP3K20
mitogen-activated protein kinase kinase kinase 20
IAGP
HPO
ORPHA:488232
NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015
Term paths to the root
one shortest
all shortest
one longest
all longest
one shortest and longest
all
Path 1
Term
Annotations
Human phenotype
74032
Phenotypic abnormality
73727
Abnormality of limbs
3147
Abnormality of the lower limb
2184
Abnormal foot morphology
1564
Abnormal toe morphology
740
Abnormal second toe morphology
15
Aplasia/Hypoplasia of the 2nd toe
2
Aplasia of the phalanges of the 2nd toe
+
1
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
+
2
Aplasia/Hypoplasia of the middle phalanx of the 2nd toe
+
0
Aplasia/hypoplasia of the proximal phalanx of the 2nd toe
+
0
Short phalanx of the 2nd toe
+
0
Path 2
Term
Annotations
Human phenotype
74032
Phenotypic abnormality
73727
Abnormality of the musculoskeletal system
9765
Abnormality of the skeletal system
8650
Abnormal skeletal morphology
8066
Aplasia/hypoplasia involving the skeleton
1249
Aplasia/hypoplasia of the extremities
739
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
Absent toe
70
Aplasia/Hypoplasia of the 2nd toe
2
Aplasia of the phalanges of the 2nd toe
+
1
Aplasia/Hypoplasia of the distal phalanx of the 2nd toe
+
2
Aplasia/Hypoplasia of the middle phalanx of the 2nd toe
+
0
Aplasia/hypoplasia of the proximal phalanx of the 2nd toe
+
0
Short phalanx of the 2nd toe
+
0