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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:Pseudoarthrosis
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Accession:HP:0005864 term browser browse the term
Definition:A pathologic entity characterized by a developmental defect in a long bone leading to bending and pathologic fracture, with inability to form a normal bony callus with subsequent fibrous nonunion, leading to the pseudarthrosis (or 'false joint').
Synonyms:exact_synonym: Pseudoarthroses
 xref: SNOMEDCT_US:31511007;   SNOMEDCT_US:410818009;   UMLS:C0033785


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Pseudoarthrosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCDC134 coiled-coil domain containing 134 IAGP HPO PMID:32181939 MIM:619795 NCBI chr22:41,800,679...41,832,164
Ensembl chr22:41,800,321...41,832,172 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:166250 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ClinVar Annotator: match by term: Pseudoarthrosis ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More... NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,618...136,439,882 		JBrowse link
G MET MET proto-oncogene, receptor tyrosine kinase IAGP HPO MIM:607278 NCBI chr 7:116,672,196...116,798,377
Ensembl chr 7:116,672,051...116,798,386 		JBrowse link
G MYF5 myogenic factor 5 IAGP HPO PMID:29887215 MIM:618155 NCBI chr12:80,716,912...80,719,671
Ensembl chr12:80,716,912...80,719,671 		JBrowse link
Congenital pseudoarthrosis of the clavicle term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRPF1 bromodomain and PHD finger containing 1 IAGP HPO ORPHA:435638 NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019 		JBrowse link
G CBFB core-binding factor subunit beta IAGP HPO PMID:36241386 MIM:620099 NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058 		JBrowse link
G EFNB1 ephrin B1 IAGP HPO MIM:304110 ORPHA:1520 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,828,992...68,842,160 		JBrowse link
G SETD5 SET domain containing 5 IAGP HPO ORPHA:435638 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,609...9,479,240 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO MIM:276820 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO MIM:275210 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Tibial pseudarthrosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NF1 neurofibromin 1 IAGP ClinVar Annotator: match by term: Tibial pseudoarthrosis
ClinVar Annotator: match by term: Tibial pseudarthrosis 		ClinVar
HPO		 PMID:1757093 PMID:1783401 PMID:2114220 PMID:7633431 PMID:7649559 More... MIM:162200 NCBI chr17:31,094,977...31,377,675
Ensembl chr17:31,094,927...31,382,116 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 94017
    Phenotypic abnormality 93606
      Abnormality of the musculoskeletal system 15681
        Abnormality of the skeletal system 12026
          Abnormal skeletal morphology 10535
            Abnormal appendicular skeleton morphology 2285
              Abnormal long bone morphology 1068
                Pseudoarthrosis 12
                  Congenital pseudoarthrosis of the clavicle 6
                  Tibial pseudarthrosis 1
paths to the root