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encyclopedia of Rare Disease Annotation for Precision Medicine

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	chondrocalcinosis

Disease ID	1549
Disease	chondrocalcinosis
Definition	presence of calcium salts, especially calcium pyrophosphate, in the cartilaginous structures of one or more joints, accompanied by attacks of goutlike symptoms.
Synonym	pseudo gout pseudo-gout pseudogout pseudogout (disorder) pseudogout syndrome pseudogout, nos
DOID	DOID:1156
UMLS	C0033802
MeSH	D002805
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:8) C0268450 \| gitelman syndrome \| 2 C0020502 \| hyperparathyroidism \| 1 C0037928 \| myelopathy \| 1 C0003864 \| arthritis \| 1 C0022408 \| arthropathy \| 1 C0029456 \| osteoporosis \| 1 C0003864 \| inflammatory arthritis \| 1 C0029408 \| osteoarthritis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 249 \| ALPL \| CIPHER 56172 \| ANKH \| CIPHER 5167 \| ENPP1 \| CIPHER
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:60) 176 \| ACAN \| 2.715 \| DISEASES 249 \| ALPL \| 3.47 \| DISEASES 567 \| B2M \| 1.252 \| DISEASES 8706 \| B3GALNT1 \| 2.431 \| DISEASES 7809 \| BSND \| 1.84 \| DISEASES 834 \| CASP1 \| 1.184 \| DISEASES 846 \| CASR \| 2.227 \| DISEASES 1188 \| CLCNKB \| 3.106 \| DISEASES 1301 \| COL11A1 \| 1.575 \| DISEASES 1302 \| COL11A2 \| 1.915 \| DISEASES 1280 \| COL2A1 \| 2.905 \| DISEASES 1297 \| COL9A1 \| 2.263 \| DISEASES 1298 \| COL9A2 \| 2.199 \| DISEASES 5167 \| ENPP1 \| 3.93 \| DISEASES 5169 \| ENPP3 \| 2.157 \| DISEASES 953 \| ENTPD1 \| 1.076 \| DISEASES 2591 \| GALNT3 \| 4.02 \| DISEASES 9446 \| GSTO1 \| 1.415 \| DISEASES 3077 \| HFE \| 2.965 \| DISEASES 8359 \| HIST1H4A \| 1.073 \| DISEASES 8366 \| HIST1H4B \| 1.073 \| DISEASES 8364 \| HIST1H4C \| 1.073 \| DISEASES 8360 \| HIST1H4D \| 1.072 \| DISEASES 8367 \| HIST1H4E \| 1.073 \| DISEASES 8361 \| HIST1H4F \| 1.073 \| DISEASES 8294 \| HIST1H4I \| 1.073 \| DISEASES 8363 \| HIST1H4J \| 1.073 \| DISEASES 8362 \| HIST1H4K \| 1.073 \| DISEASES 8368 \| HIST1H4L \| 1.073 \| DISEASES 8370 \| HIST2H4A \| 1.073 \| DISEASES 554313 \| HIST2H4B \| 1.073 \| DISEASES 121504 \| HIST4H4 \| 1.073 \| DISEASES 3105 \| HLA-A \| 1.148 \| DISEASES 3704 \| ITPA \| 1.38 \| DISEASES 3758 \| KCNJ1 \| 1.399 \| DISEASES 9735 \| KNTC1 \| 1.342 \| DISEASES 54900 \| LAX1 \| 1.269 \| DISEASES 4146 \| MATN1 \| 2.04 \| DISEASES 8972 \| MGAM \| 2.575 \| DISEASES 4487 \| MSX1 \| 1.464 \| DISEASES 4700 \| NDUFA6 \| 2.296 \| DISEASES 114548 \| NLRP3 \| 2.499 \| DISEASES 5032 \| P2RY11 \| 2.354 \| DISEASES 5075 \| PAX1 \| 2.177 \| DISEASES 5464 \| PPA1 \| 2.235 \| DISEASES 5745 \| PTH1R \| 1.225 \| DISEASES 860 \| RUNX2 \| 1.288 \| DISEASES 5104 \| SERPINA5 \| 1.543 \| DISEASES 6559 \| SLC12A3 \| 3.99 \| DISEASES 116085 \| SLC22A12 \| 1.489 \| DISEASES 2030 \| SLC29A1 \| 1.281 \| DISEASES 6696 \| SPP1 \| 1.412 \| DISEASES 6708 \| SPTA1 \| 3.033 \| DISEASES 6709 \| SPTAN1 \| 1.603 \| DISEASES 8675 \| STX16 \| 2.319 \| DISEASES 7018 \| TF \| 1.693 \| DISEASES 8718 \| TNFRSF25 \| 1.593 \| DISEASES 51592 \| TRIM33 \| 2.906 \| DISEASES 140803 \| TRPM6 \| 1.885 \| DISEASES 7321 \| UBE2D1 \| 1.351 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1549
Disease	chondrocalcinosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:6) HP:0000843 \| Hyperparathyroidism \| 1 HP:0003040 \| Arthropathy \| 1 HP:0002758 \| Osteoarthritis \| 1 HP:0001369 \| Arthritis \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0002196 \| Myelopathy \| 1

Disease ID	1549
Disease	chondrocalcinosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:18) C1692886 \| septic arthritis C1263855 \| lumbar radiculopathy C0852866 \| cervical cord compression C0543612 \| cervical syndrome C0405583 \| tendon calcification C0268450 \| gitelman syndrome C0263933 \| achilles tendinitis C0151723 \| hypomagnesemia C0037933 \| spondylopathy C0036572 \| seizures C0029408 \| degenerative arthritis C0022408 \| arthropathies C0018995 \| haemochromatosis C0018924 \| hemarthrosis C0014130 \| endocrine disease C0007286 \| carpal tunnel syndrome C0003864 \| arthritis C0002726 \| amyloidosis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0268450 \| gitelman syndrome \| 2 C0022408 \| arthropathy \| 1 C0003864 \| arthritis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1549
Disease	chondrocalcinosis
Case	(Waiting for update.)

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