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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:
Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
go back to main search page
Accession:
HP:0009501
browse the term
Synonyms:
exact_synonym:
Epiphyseal abnormality of the proximal phalanx of the 2nd finger
alt_id:
HP:0004127
xref:
UMLS:C4021462
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Genes (1)
Enlarged epiphysis of the proximal phalanx of the 2nd finger
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
GDF5
growth differentiation factor 5
IAGP
HPO
MIM:113100
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
Triangular epiphysis of the proximal phalanx of the 2nd finger
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
GDF5
growth differentiation factor 5
IAGP
HPO
PMID:28391997
MIM:113100
NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
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
98827
Phenotypic abnormality
98430
Abnormality of limbs
3278
Abnormality of the upper limb
2138
Abnormal upper limb epiphysis morphology
63
Abnormal hand epiphysis morphology
58
Abnormal epiphysis morphology of the phalanges of the hand
42
Abnormality of the epiphyses of the 2nd finger
2
Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
1
Absent epiphysis of the proximal phalanx of the 2nd finger
0
Bracket epiphysis of the proximal phalanx of the 2nd finger
0
Cone-shaped epiphysis of the proximal phalanx of the 2nd finger
0
Enlarged epiphysis of the proximal phalanx of the 2nd finger
1
Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger
0
Irregular epiphysis of the proximal phalanx of the 2nd finger
0
Ivory epiphysis of the proximal phalanx of the 2nd finger
0
Pseudoepiphysis of the proximal phalanx of the 2nd finger
0
Small epiphysis of the proximal phalanx of the 2nd finger
0
Stippling of the epiphysis of the proximal phalanx of the 2nd finger
0
Triangular epiphysis of the proximal phalanx of the 2nd finger
1
Path 2
Term
Annotations
Human phenotype
98827
Phenotypic abnormality
98430
Abnormality of the musculoskeletal system
14153
Abnormality of the skeletal system
10242
Abnormal skeletal morphology
9730
Abnormal appendicular skeleton morphology
2220
Abnormal long bone morphology
870
Abnormal epiphysis morphology
283
Abnormal limb epiphysis morphology
139
Abnormal upper limb epiphysis morphology
63
Abnormal hand epiphysis morphology
58
Abnormal epiphysis morphology of the phalanges of the hand
42
Abnormality of the epiphyses of the proximal phalanges of the hand
5
Abnormality of the epiphysis of the proximal phalanx of the 2nd finger
1
Absent epiphysis of the proximal phalanx of the 2nd finger
0
Bracket epiphysis of the proximal phalanx of the 2nd finger
0
Cone-shaped epiphysis of the proximal phalanx of the 2nd finger
0
Enlarged epiphysis of the proximal phalanx of the 2nd finger
1
Fragmentation of the epiphysis of the proximal phalanx of the 2nd finger
0
Irregular epiphysis of the proximal phalanx of the 2nd finger
0
Ivory epiphysis of the proximal phalanx of the 2nd finger
0
Pseudoepiphysis of the proximal phalanx of the 2nd finger
0
Small epiphysis of the proximal phalanx of the 2nd finger
0
Stippling of the epiphysis of the proximal phalanx of the 2nd finger
0
Triangular epiphysis of the proximal phalanx of the 2nd finger
1