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HUMAN PHENOTYPE - ANNOTATIONS

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:Humeroradial synostosis
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Accession:HP:0003041 term browser browse the term
Definition:An abnormal osseous union (fusion) between the radius and the humerus.
Synonyms:exact_synonym: Fusion of upper and lower arm bones;   Humeral radial synostosis;   Radiohumeral synostosis of elbow;   Synostosis of radius and humerus
 alt_id: HP:0003936
 xref: SNOMEDCT_US:205329008;   UMLS:C1863360;   UMLS:C2930865


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Humeroradial synostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CYP26B1 cytochrome P450 family 26 subfamily B member 1 IAGP HPO MIM:614416 NCBI chr 2:72,129,238...72,147,862
Ensembl chr 2:72,129,238...72,147,862 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO MIM:251230 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706 		JBrowse link
G FGF9 fibroblast growth factor 9 IAGP HPO MIM:612961 NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:101600 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:101200 MIM:101600 MIM:207410 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458 		JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO MIM:610017 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746 		JBrowse link
G NOG noggin IAGP HPO MIM:186570 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611 		JBrowse link
G POR cytochrome p450 oxidoreductase IAGP HPO MIM:201750 MIM:207410 ORPHA:95699 NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO MIM:151050 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO MIM:260660 ORPHA:93333 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO MIM:276820 ORPHA:2879 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 73834
    Phenotypic abnormality 73529
      Abnormality of limbs 3143
        Abnormality of the upper limb 2079
          Abnormal upper limb bone morphology 464
            Abnormal humerus morphology 24
              Humeroradial synostosis 11
Path 2
Term Annotations click to browse term
  Human phenotype 73834
    Phenotypic abnormality 73529
      Abnormality of the musculoskeletal system 9723
        Abnormality of the skeletal system 8604
          Abnormal skeletal morphology 8021
            Abnormal appendicular skeleton morphology 2142
              Abnormal limb bone morphology 1974
                Abnormal upper limb bone morphology 464
                  Abnormal forearm bone morphology 238
                    Abnormal morphology of the radius 218
                      Humeroradial synostosis 11
paths to the root