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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:
Abnormal humeral ossification
go back to main search page
Accession:
HP:0012791
browse the term
Definition:
An anomaly of the process of formation of bone in the humerus.
Synonyms:
exact_synonym:
Abnormal maturation of long bone in upper arm
xref:
UMLS:C4022722
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Human (2)
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Bonobo (0)
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Squirrel (0)
Pig (0)
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All
Genes (2)
Epiphyseal stippling of the humerus
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
FLNB
filamin B
IAGP
HPO
ORPHA:56305
NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
Multicentric ossification of proximal humeral epiphyses
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
DYM
dymeclin
IAGP
HPO
MIM:223800
NCBI chr18:49,036,387...49,460,645
Ensembl chr18:49,036,387...49,461,347
Term paths to the root
one shortest
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one longest
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Path 1
Term
Annotations
Human phenotype
73835
Phenotypic abnormality
73530
Abnormality of limbs
3147
Abnormality of the upper limb
2085
Abnormal upper limb bone morphology
463
Abnormality of the humerus
65
Abnormal humeral ossification
2
Absent humeral epiphyseal ossification
0
Irregular ossification of humeral metaphyses
0
Irregular ossification of the humeral epiphyses
+
2
Path 2
Term
Annotations
Human phenotype
73835
Phenotypic abnormality
73530
Abnormality of the musculoskeletal system
9725
Abnormality of the skeletal system
8608
Abnormal skeletal morphology
8024
Abnormal appendicular skeleton morphology
2150
Abnormal limb bone morphology
1982
Abnormal upper limb bone morphology
463
Abnormality of the humerus
65
Abnormal humeral ossification
2
Absent humeral epiphyseal ossification
0
Irregular ossification of humeral metaphyses
0
Irregular ossification of the humeral epiphyses
+
2