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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:Sclerosis of hand bone
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Accession:HP:0004054 term browser browse the term
Definition:Osteosclerosis affecting one or more bones of the hand.
Synonyms:exact_synonym: Generalised sclerosis of hand bones;   Generalized sclerosis of hand bones;   Hand bone sclerosis;   Increased bone density in hand bone;   Increased bone density in hand bones
 alt_id: HP:0004055
 xref: UMLS:C4021684


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Sclerosis of hand bone term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C IAGP HPO ORPHA:79474 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
Ivory epiphyses of the distal phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRCAP Snf2 related CREBBP activator protein IAGP HPO MIM:136140 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409 		JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO MIM:190350 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673 		JBrowse link
Ivory epiphyses of the phalanges of the hand term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 IAGP HPO MIM:226980 NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518 		JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO MIM:133540 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538 		JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO MIM:216400 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073 		JBrowse link
G TONSL tonsoku like, DNA repair protein IAGP HPO ORPHA:93357 NCBI chr 8:144,428,775...144,444,440
Ensembl chr 8:144,428,775...144,444,440 		JBrowse link
Patchy sclerosis of finger phalanx term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:218400 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
Sclerosis of finger phalanx term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NGLY1 N-glycanase 1 IAGP HPO ORPHA:404454 NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039 		JBrowse link
Sclerotic foci in hand bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:166119 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355 		JBrowse link
Sclerotic foci within carpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:166119 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355 		JBrowse link
Stippled calcification in carpal bones term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EBP EBP cholestenol delta-isomerase IAGP HPO MIM:302960 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G SLC34A2 solute carrier family 34 member 2 IAGP HPO ORPHA:60025 NCBI chr 4:25,655,851...25,678,748
Ensembl chr 4:25,648,011...25,678,748 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 74032
    Phenotypic abnormality 73727
      Abnormality of the musculoskeletal system 9766
        Abnormality of the skeletal system 8650
          Abnormal skeletal morphology 8066
            Abnormal bone structure 959
              Abnormal bone ossification 844
                Abnormality of bone mineral density 737
                  Increased bone mineral density 132
                    Sclerosis of hand bone 12
                      Irregular sclerosis of hand bones + 2
                      Sclerosis of finger phalanx + 8
                      Sclerosis of the carpal bones 0
                      Sclerotic foci within carpal bones 1
                      Stippled calcification in carpal bones 2
paths to the root