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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:Chondrocalcinosis
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Accession:HP:0000934 term browser browse the term
Definition:Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .
Synonyms:exact_synonym: Calcium deposits in joints
 xref: MESH:D002805;   SNOMEDCT_US:201637001;   SNOMEDCT_US:239832006;   SNOMEDCT_US:239838005;   UMLS:C0553730



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Chondrocalcinosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPL alkaline phosphatase, biomineralization associated IAGP OMIM:146300 HPO NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
JBrowse link
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP ORPHA:1416
ClinVar Annotator: match by term: Chondrocalcinosis
HPO
ClinVar
NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
JBrowse link
G AP2S1 adaptor related protein complex 2 subunit sigma 1 IAGP OMIM:600740 HPO NCBI chr19:46,838,167...46,850,846
Ensembl chr19:46,838,136...46,850,846
JBrowse link
G ATP7A ATPase copper transporting alpha IAGP ORPHA:565 HPO NCBI chr  X:77,910,693...78,050,395
Ensembl chr  X:77,910,690...78,050,395
JBrowse link
G ATP7B ATPase copper transporting beta IAGP OMIM:277900 HPO NCBI chr13:51,932,669...52,012,132
Ensembl chr13:51,930,436...52,012,125
JBrowse link
G CDC73 cell division cycle 73 IAGP ORPHA:143 ORPHA:99879 ORPHA:99880 HPO NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815
JBrowse link
G CLCNKB chloride voltage-gated channel Kb IAGP ORPHA:358 HPO NCBI chr 1:16,043,782...16,057,326
Ensembl chr 1:16,040,252...16,057,311
JBrowse link
G FXYD2 FXYD domain containing ion transport regulator 2 IAGP OMIM:154020 HPO NCBI chr11:117,820,057...117,828,089
Ensembl chr11:117,800,844...117,828,698
JBrowse link
G GCM2 glial cells missing transcription factor 2 IAGP ORPHA:99879 HPO NCBI chr 6:10,873,223...10,882,041
Ensembl chr 6:10,873,223...10,882,041
JBrowse link
G GNA11 G protein subunit alpha 11 IAGP OMIM:145981 HPO NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999
JBrowse link
G HYAL1 hyaluronidase 1 IAGP OMIM:601492 HPO NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381
JBrowse link
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 IAGP OMIM:241200 HPO NCBI chr11:128,838,020...128,867,296
Ensembl chr11:128,836,315...128,867,373
JBrowse link
G LMNA lamin A/C IAGP ORPHA:79474 HPO NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081
JBrowse link
G MEFV MEFV innate immuity regulator, pyrin IAGP ORPHA:329967 HPO NCBI chr16:3,242,027...3,256,633
Ensembl chr16:3,242,027...3,256,633
JBrowse link
G MEN1 menin 1 IAGP ORPHA:99879 HPO NCBI chr11:64,803,516...64,811,294
Ensembl chr11:64,803,510...64,811,294
JBrowse link
G NOTCH3 notch receptor 3 IAGP ORPHA:2591 HPO NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995
JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity IAGP ClinVar Annotator: match by term: Chondrocalcinosis ClinVar NCBI chr 5:14,664,718...14,716,525
Ensembl chr 5:14,664,664...14,699,850
JBrowse link
G PDGFRB platelet derived growth factor receptor beta IAGP ORPHA:2591 HPO NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872
JBrowse link
G SLC12A1 solute carrier family 12 member 1 IAGP OMIM:601678 HPO NCBI chr15:48,206,302...48,304,078
Ensembl chr15:48,178,438...48,304,078
JBrowse link
G SLC12A3 solute carrier family 12 member 3 IAGP OMIM:263800 ORPHA:358 HPO NCBI chr16:56,865,207...56,915,850
Ensembl chr16:56,865,207...56,915,850
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b IAGP ORPHA:1416 HPO NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
JBrowse link
G TNFRSF1A TNF receptor superfamily member 1A IAGP ORPHA:329967 HPO NCBI chr12:6,328,771...6,342,076
Ensembl chr12:6,328,757...6,342,114
JBrowse link
G WRN WRN RecQ like helicase IAGP ORPHA:902 HPO NCBI chr 8:31,033,810...31,176,138
Ensembl chr 8:31,033,788...31,176,138
JBrowse link
Polyarticular chondrocalcinosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP OMIM:118600 HPO NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 14822
    Phenotypic abnormality 14819
      Abnormality of the musculoskeletal system 4082
        Abnormality of the skeletal system 3354
          Ectopic calcification 235
            Chondrocalcinosis 23
              Polyarticular chondrocalcinosis 1
Path 2
Term Annotations click to browse term
  Human phenotype 14822
    Phenotypic abnormality 14819
      Abnormality of the musculoskeletal system 4082
        Abnormality of the skeletal system 3354
          Abnormal skeletal morphology 3234
            Abnormal joint morphology 1194
              Chondrocalcinosis 23
                Polyarticular chondrocalcinosis 1
paths to the root