Term ID: |
7352 |
Name: |
Cerebellar calcifications |
Synonym: |
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Definition: |
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Comments: |
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Reference: |
HP:0007352 |
Genes and Diseases: | |
Child Nodes: |
........Dense calcifications in the cerebellar dentate nucleus (HP:0002461) |
Sister Nodes: |
..Abnormal calcification of the carpal bones (HP:0009164)
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..Adrenal calcification (HP:0010512)
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..Calcific stippling (HP:0002832)
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..Calcification of cartilage (HP:0100593)
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..Calcification of muscles (HP:0100249)
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..Calcification of ribs (HP:0040059)
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..Calcinosis cutis (HP:0025520)
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..Cardiovascular calcification (HP:0011915)
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..Cerebral calcification (HP:0002514)
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..Chondrocalcinosis (HP:0000934)
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..Epiphyseal stippling (HP:0010655)
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..Gingival calcification (HP:0025141)
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..Gonadal calcification (HP:0008703)
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..Hepatic calcification (HP:0006559)
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..Intervertebral disk calcification (HP:0005645)
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..Intraalveolar nodular calcifications (HP:0006514)
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..Laryngeal calcification (HP:0008754)
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..Pancreatic calcification (HP:0005213)
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..Periarticular calcification (HP:0025477)
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..Punctate vertebral calcifications (HP:0008420)
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..Retinal calcification (HP:0007862)
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..Sternal punctate calcifications (HP:0006637)
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..Subcutaneous calcification (HP:0007618)
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..Tarsal stippling (HP:0008131)
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..Tracheal calcification (HP:0002787)
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Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: | HPO disease - gene - phenotype less frequent non-typical associations: | HP:0007352 | HP:0007352 | Cerebellar calcifications | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 199 | | | HP:0007352 | HP:0007352 | Cerebellar calcifications | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | | HP:0007352 | HP:0007352 | Cerebellar calcifications | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 55 | | | HP:0007352 | HP:0007352 | Cerebellar calcifications | 0 | JAM2 CL E G H | 58494 | 14686 | OMIM:618824 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8 | | | | | | | HP:0007352 | HP:0007352 | Cerebellar calcifications | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 9 | | | HP:0007352 | HP:0007352 | Cerebellar calcifications | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 28 | | | HP:0007352 | HP:0007352 | Cerebellar calcifications | 0 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 70 | | | HP:0007352 | HP:0007352 | Cerebellar calcifications | 0 | SNORD118 CL E G H | 727676 | 32952 | ORPHA:542310 | Leukoencephalopathy with calcifications and cysts | | | | 6 | | | HP:0007352 | HP:0007352 | Cerebellar calcifications | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | | HP:0007352 | HP:0002461 | Dense calcifications in the cerebellar dentate nucleus | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040281 - Very frequent | | | 199 | | | HP:0007352 | HP:0002461 | Dense calcifications in the cerebellar dentate nucleus | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040281 - Very frequent | | | 55 | | | HP:0007352 | HP:0002461 | Dense calcifications in the cerebellar dentate nucleus | 1 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 9 | | | HP:0007352 | HP:0002461 | Dense calcifications in the cerebellar dentate nucleus | 1 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 28 | | | HP:0007352 | HP:0002461 | Dense calcifications in the cerebellar dentate nucleus | 1 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 70 | | | HP:0007352 | HP:0002461 | Dense calcifications in the cerebellar dentate nucleus | 1 | SNORD118 CL E G H | 727676 | 32952 | ORPHA:542310 | Leukoencephalopathy with calcifications and cysts | | | | 6 | | |
Genes (8) :ERCC6 ERCC8 JAM2 PDGFB PDGFRB SLC20A2 SNORD118 TREX1
Diseases (6) :ORPHA:90324 OMIM:133540 OMIM:618824 OMIM:213600 ORPHA:542310 OMIM:225750 |
Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.
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