Term ID: 934
Name: Chondrocalcinosis
Synonym: Calcium deposits in joints
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) .
Comments:
Reference: HP:0000934
Genes and Diseases: Child Nodes: ........Polyarticular chondrocalcinosis (HP:0005017) Sister Nodes: ..Abnormal calcification of the carpal bones (HP:0009164) ..Adrenal calcification (HP:0010512) ..Calcific stippling (HP:0002832) ..Calcification of cartilage (HP:0100593) ..Calcification of muscles (HP:0100249) ..Calcification of ribs (HP:0040059) ..Calcinosis cutis (HP:0025520) ..Cardiovascular calcification (HP:0011915) ..Cerebellar calcifications (HP:0007352) ..Cerebral calcification (HP:0002514) ..Epiphyseal stippling (HP:0010655) ..Gingival calcification (HP:0025141) ..Gonadal calcification (HP:0008703) ..Hepatic calcification (HP:0006559) ..Intervertebral disk calcification (HP:0005645) ..Intraalveolar nodular calcifications (HP:0006514) ..Laryngeal calcification (HP:0008754) ..Pancreatic calcification (HP:0005213) ..Periarticular calcification (HP:0025477) ..Punctate vertebral calcifications (HP:0008420) ..Retinal calcification (HP:0007862) ..Sternal punctate calcifications (HP:0006637) ..Subcutaneous calcification (HP:0007618) ..Tarsal stippling (HP:0008131) ..Tracheal calcification (HP:0002787) Input HPO ID HPO term Distance Gene Gene id entrez HGNC ID DiseaseId DiseaseName Frequency Onset HGMD variants ClinVar variants HP:0000934 HP:0000934 Chondrocalcinosis 0 ALPL CL E G H 249 438 OMIM:146300 Hypophosphatasia, adult . 126 HP:0000934 HP:0000934 Chondrocalcinosis 0 ANKH CL E G H 56172 15492 OMIM:118600 Chondrocalcinosis 2 164 HP:0000934 HP:0000934 Chondrocalcinosis 0 ANKH CL E G H 56172 15492 ORPHA:1416 Familial calcium pyrophosphate deposition HP:0040283 - Occasional 164 HP:0000934 HP:0000934 Chondrocalcinosis 0 AP2S1 CL E G H 1175 565 OMIM:600740 Hypocalciuric hypercalcemia, familial, type III . 6 HP:0000934 HP:0000934 Chondrocalcinosis 0 ATP7A CL E G H 538 869 ORPHA:565 Menkes disease HP:0040283 - Occasional 192 HP:0000934 HP:0000934 Chondrocalcinosis 0 ATP7B CL E G H 540 870 OMIM:277900 Wilson disease . 315 HP:0000934 HP:0000934 Chondrocalcinosis 0 CDC73 CL E G H 79577 16783 ORPHA:99879 Familial isolated hyperparathyroidism HP:0040281 - Very frequent 169 HP:0000934 HP:0000934 Chondrocalcinosis 0 CDC73 CL E G H 79577 16783 ORPHA:99880 Hyperparathyroidism-jaw tumor syndrome HP:0040283 - Occasional 169 HP:0000934 HP:0000934 Chondrocalcinosis 0 CDC73 CL E G H 79577 16783 ORPHA:143 Parathyroid carcinoma HP:0040283 - Occasional 169 HP:0000934 HP:0000934 Chondrocalcinosis 0 CLCNKB CL E G H 1188 2027 ORPHA:358 Gitelman syndrome HP:0040284 - Very rare 27 HP:0000934 HP:0000934 Chondrocalcinosis 0 FXYD2 CL E G H 486 4026 OMIM:154020 Hypomagnesemia 2, renal . 17 HP:0000934 HP:0000934 Chondrocalcinosis 0 GCM2 CL E G H 9247 4198 ORPHA:99879 Familial isolated hyperparathyroidism HP:0040281 - Very frequent 51 HP:0000934 HP:0000934 Chondrocalcinosis 0 GNA11 CL E G H 2767 4379 OMIM:145981 Hypocalciuric hypercalcemia, familial, type II . 16 HP:0000934 HP:0000934 Chondrocalcinosis 0 HYAL1 CL E G H 3373 5320 OMIM:601492 Mucopolysaccharidosis type IX 28 HP:0000934 HP:0000934 Chondrocalcinosis 0 KCNJ1 CL E G H 3758 6255 OMIM:241200 Bartter syndrome, antenatal, type 2 . 51 HP:0000934 HP:0000934 Chondrocalcinosis 0 LMNA CL E G H 4000 6636 ORPHA:79474 Atypical Werner syndrome HP:0040281 - Very frequent 645 HP:0000934 HP:0000934 Chondrocalcinosis 0 MEFV CL E G H 4210 6998 ORPHA:329967 Intermittent hydrarthrosis HP:0040284 - Very rare 281 HP:0000934 HP:0000934 Chondrocalcinosis 0 MEN1 CL E G H 4221 7010 ORPHA:99879 Familial isolated hyperparathyroidism HP:0040281 - Very frequent 462 HP:0000934 HP:0000934 Chondrocalcinosis 0 NOTCH3 CL E G H 4854 7883 ORPHA:2591 Infantile myofibromatosis HP:0040282 - Frequent 144 HP:0000934 HP:0000934 Chondrocalcinosis 0 PDGFRB CL E G H 5159 8804 ORPHA:2591 Infantile myofibromatosis HP:0040282 - Frequent 28 HP:0000934 HP:0000934 Chondrocalcinosis 0 SLC12A1 CL E G H 6557 10910 OMIM:601678 Bartter syndrome, type 1, antenatal . 75 HP:0000934 HP:0000934 Chondrocalcinosis 0 SLC12A3 CL E G H 6559 10912 ORPHA:358 Gitelman syndrome HP:0040284 - Very rare 145 HP:0000934 HP:0000934 Chondrocalcinosis 0 SLC12A3 CL E G H 6559 10912 OMIM:263800 Gitelman syndrome 145 HP:0000934 HP:0000934 Chondrocalcinosis 0 TNFRSF11B CL E G H 4982 11909 ORPHA:1416 Familial calcium pyrophosphate deposition HP:0040283 - Occasional 44 HP:0000934 HP:0000934 Chondrocalcinosis 0 TNFRSF1A CL E G H 7132 11916 ORPHA:329967 Intermittent hydrarthrosis HP:0040284 - Very rare 131 HP:0000934 HP:0000934 Chondrocalcinosis 0 WRN CL E G H 7486 12791 ORPHA:902 Werner syndrome HP:0040282 - Frequent 310 HP:0000934 HP:0005017 Polyarticular chondrocalcinosis 1 ANKH CL E G H 56172 15492 OMIM:118600 Chondrocalcinosis 2 . 164
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
