Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the skeletal system (HP:0000924)help
Parent Node:
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Abnormal cerebellum morphology (HP:0001317)help
Parent Node:
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Ectopic calcification (HP:0010766)help
..Starting node
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Cerebellar calcifications (HP:0007352)help
Term ID: 7352
Name: Cerebellar calcifications
Synonym:
Definition:
Comments:
Reference: HP:0007352
Genes and Diseases:
 
       Child Nodes:
........expandDense calcifications in the cerebellar dentate nucleus (HP:0002461) help

 Sister Nodes: 
..expandAbnormal calcification of the carpal bones (HP:0009164) help
..expandAdrenal calcification (HP:0010512) help
..expandCalcific stippling (HP:0002832) help
..expandCalcification of cartilage (HP:0100593) help
..expandCalcification of muscles (HP:0100249) help
..expandCalcification of ribs (HP:0040059) help
..expandCalcinosis cutis (HP:0025520) help
..expandCardiovascular calcification (HP:0011915) help
..expandCerebral calcification (HP:0002514) help
..expandChondrocalcinosis (HP:0000934) help
..expandEpiphyseal stippling (HP:0010655) help
..expandGingival calcification (HP:0025141) help
..expandGonadal calcification (HP:0008703) help
..expandHepatic calcification (HP:0006559) help
..expandIntervertebral disk calcification (HP:0005645) help
..expandIntraalveolar nodular calcifications (HP:0006514) help
..expandLaryngeal calcification (HP:0008754) help
..expandPancreatic calcification (HP:0005213) help
..expandPeriarticular calcification (HP:0025477) help
..expandPunctate vertebral calcifications (HP:0008420) help
..expandRetinal calcification (HP:0007862) help
..expandSternal punctate calcifications (HP:0006637) help
..expandSubcutaneous calcification (HP:0007618) help
..expandTarsal stippling (HP:0008131) help
..expandTracheal calcification (HP:0002787) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007352HP:0007352Cerebellar calcifications0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0007352HP:0007352Cerebellar calcifications0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0007352HP:0007352Cerebellar calcifications0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0007352HP:0007352Cerebellar calcifications0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0007352HP:0007352Cerebellar calcifications0PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 19
HP:0007352HP:0007352Cerebellar calcifications0PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 128
HP:0007352HP:0007352Cerebellar calcifications0SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 170
HP:0007352HP:0007352Cerebellar calcifications0SNORD118 CL E G H72767632952ORPHA:542310Leukoencephalopathy with calcifications and cysts6
HP:0007352HP:0007352Cerebellar calcifications0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0007352HP:0002461Dense calcifications in the cerebellar dentate nucleus1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040281 - Very frequent199
HP:0007352HP:0002461Dense calcifications in the cerebellar dentate nucleus1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040281 - Very frequent55
HP:0007352HP:0002461Dense calcifications in the cerebellar dentate nucleus1PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 1.9
HP:0007352HP:0002461Dense calcifications in the cerebellar dentate nucleus1PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 1.28
HP:0007352HP:0002461Dense calcifications in the cerebellar dentate nucleus1SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 1.70
HP:0007352HP:0002461Dense calcifications in the cerebellar dentate nucleus1SNORD118 CL E G H72767632952ORPHA:542310Leukoencephalopathy with calcifications and cysts6


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.