Human Phenotype Ontology 
Grandparent Node:
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Abnormality of the skeletal system (HP:0000924)help
Parent Node:
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Abnormal cerebral morphology (HP:0002060)help
Parent Node:
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Ectopic calcification (HP:0010766)help
..Starting node
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Cerebral calcification (HP:0002514)help
Term ID: 2514
Name: Cerebral calcification
Synonym: Abnormal deposits of calcium in the brain; Brain calcification; Intracerebral calcifications; Intracranial calcification; Intracranial calcifications
Definition: The presence of calcium deposition within brain structures.
Comments:
Reference: HP:0002514
Genes and Diseases:
 
       Child Nodes:
........expandBasal ganglia calcification (HP:0002135) help
........expandCalcification of falx cerebri (HP:0005462) help
........expandBilateral intracranial calcifications (HP:0005671) help
........expandDiffuse cerebral calcification (HP:0005849) help
........expandCongenital intracerebral calcification (HP:0006906) help
........expandChoroid plexus calcification (HP:0006960) help
........expandMidline brain calcifications (HP:0007045) help
........expandIntracerebral periventricular calcifications (HP:0007229) help
........expandNonarteriosclerotic cerebral calcification (HP:0007238) help
........expandSubcortical white matter calcifications (HP:0007346) help
........expandPituitary calcification (HP:0010513) help
........expandMeningeal calcification (HP:0100250) 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
..expandCerebellar calcifications (HP:0007352) 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:0002514HP:0002514Cerebral calcification0ABCC6 CL E G H36857ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare415
HP:0002514HP:0002514Cerebral calcification0ABCC6 CL E G H36857ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional415
HP:0002514HP:0002514Cerebral calcification0ABCC6 CL E G H36857OMIM:177850Pseudoxanthoma elasticum, forme fruste415
HP:0002514HP:0002514Cerebral calcification0ACD CL E G H6505725070ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040283 - Occasional11
HP:0002514HP:0002514Cerebral calcification0ACP5 CL E G H54124ORPHA:1855SpondyloenchondrodysplasiaHP:0040283 - Occasional16
HP:0002514HP:0002514Cerebral calcification0ACP5 CL E G H54124OMIM:607944Spondyloenchondrodysplasia with immune dysregulation16
HP:0002514HP:0002514Cerebral calcification0ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressiva49
HP:0002514HP:0002514Cerebral calcification0ADAR CL E G H103225ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent116
HP:0002514HP:0002514Cerebral calcification0ADAR CL E G H103225OMIM:615010Aicardi-Goutieres syndrome 6HP:0040283 - Occasional116
HP:0002514HP:0002514Cerebral calcification0AIRE CL E G H326360ORPHA:3453Autoimmune polyendocrinopathy type 1HP:0040283 - Occasional92
HP:0002514HP:0002514Cerebral calcification0AMER1 CL E G H13928526837ORPHA:2780Osteopathia striata-cranial sclerosis syndromeHP:0040283 - Occasional34
HP:0002514HP:0002514Cerebral calcification0AP1S2 CL E G H8905560ORPHA:85335Fried syndromeHP:0040281 - Very frequent13
HP:0002514HP:0002514Cerebral calcification0AP1S2 CL E G H8905560OMIM:304340Pettigrew syndromeHP:0040283 - Occasional13
HP:0002514HP:0002514Cerebral calcification0APP CL E G H351620ORPHA:100006ABeta amyloidosis, Dutch typeHP:0040282 - Frequent74
HP:0002514HP:0002514Cerebral calcification0ATP7A CL E G H538869ORPHA:198Occipital horn syndromeHP:0040281 - Very frequent192
HP:0002514HP:0002514Cerebral calcification0BRAF CL E G H6731097ORPHA:54595CraniopharyngiomaHP:0040281 - Very frequent276
HP:0002514HP:0002514Cerebral calcification0CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosisHP:0040282 - Frequent29
HP:0002514HP:0002514Cerebral calcification0CA2 CL E G H7601373OMIM:259730Osteopetrosis, autosomal recessive 329
HP:0002514HP:0002514Cerebral calcification0CASR CL E G H8461514OMIM:601198Hypocalcemia, autosomal dominant 1272
HP:0002514HP:0002514Cerebral calcification0CLCNKB CL E G H11882027ORPHA:358Gitelman syndromeHP:0040284 - Very rare27
HP:0002514HP:0002514Cerebral calcification0COL11A1 CL E G H13012186ORPHA:560Marshall syndromeHP:0040282 - Frequent215
HP:0002514HP:0002514Cerebral calcification0COL11A1 CL E G H13012186OMIM:154780Marshall syndrome215
HP:0002514HP:0002514Cerebral calcification0COL2A1 CL E G H12802200ORPHA:85198DysspondyloenchondromatosisHP:0040283 - Occasional284
HP:0002514HP:0002514Cerebral calcification0COLGALT1 CL E G H7970926182OMIM:618360Brain small vessel disease 3.
HP:0002514HP:0002514Cerebral calcification0COX1 CL E G H45127419ORPHA:550MELAS
HP:0002514HP:0002514Cerebral calcification0COX2 CL E G H45137421ORPHA:550MELAS
HP:0002514HP:0002514Cerebral calcification0COX3 CL E G H45147422ORPHA:550MELAS
HP:0002514HP:0002514Cerebral calcification0CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040282 - Frequent101
HP:0002514HP:0002514Cerebral calcification0CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal101
HP:0002514HP:0002514Cerebral calcification0CSF1R CL E G H14362433OMIM:618476Brain abnormalities, neurodegeneration, and dysosteosclerosis149
HP:0002514HP:0002514Cerebral calcification0CTC1 CL E G H8016926169OMIM:612199Cerebroretinal microangiopathy with calcifications and cysts.160
HP:0002514HP:0002514Cerebral calcification0CTC1 CL E G H8016926169ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional160
HP:0002514HP:0002514Cerebral calcification0CTNNB1 CL E G H14992514ORPHA:54595CraniopharyngiomaHP:0040281 - Very frequent88
HP:0002514HP:0002514Cerebral calcification0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0002514HP:0002514Cerebral calcification0CTSC CL E G H10752528ORPHA:678Papillon-Lefèvre syndromeHP:0040282 - Frequent50
HP:0002514HP:0002514Cerebral calcification0CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome50
HP:0002514HP:0002514Cerebral calcification0CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessive18
HP:0002514HP:0002514Cerebral calcification0DAG1 CL E G H16052666OMIM:616538MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9.108
HP:0002514HP:0002514Cerebral calcification0DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type45
HP:0002514HP:0002514Cerebral calcification0DENND5A CL E G H2325819344OMIM:617281Epileptic encephalopathy, early infantile, 49HP:0040284 - Very rare6
HP:0002514HP:0002514Cerebral calcification0DKC1 CL E G H17362890ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional65
HP:0002514HP:0002514Cerebral calcification0DKC1 CL E G H17362890ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040283 - Occasional65
HP:0002514HP:0002514Cerebral calcification0DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic form94
HP:0002514HP:0002514Cerebral calcification0ECM1 CL E G H18933153ORPHA:530Lipoid proteinosisHP:0040283 - Occasional14
HP:0002514HP:0002514Cerebral calcification0ECM1 CL E G H18933153OMIM:247100Urbach-Wiethe disease14
HP:0002514HP:0002514Cerebral calcification0ENPP1 CL E G H51673356ORPHA:51608Generalized arterial calcification of infancyHP:0040284 - Very rare151
HP:0002514HP:0002514Cerebral calcification0ENPP1 CL E G H51673356ORPHA:758Pseudoxanthoma elasticumHP:0040283 - Occasional151
HP:0002514HP:0002514Cerebral calcification0ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 220
HP:0002514HP:0002514Cerebral calcification0ERCC1 CL E G H20673433ORPHA:1466COFS syndromeHP:0040281 - Very frequent20
HP:0002514HP:0002514Cerebral calcification0ERCC2 CL E G H20683434ORPHA:1466COFS syndromeHP:0040281 - Very frequent106
HP:0002514HP:0002514Cerebral calcification0ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B54
HP:0002514HP:0002514Cerebral calcification0ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1158
HP:0002514HP:0002514Cerebral calcification0ERCC5 CL E G H20733437ORPHA:1466COFS syndromeHP:0040281 - Very frequent83
HP:0002514HP:0002514Cerebral calcification0ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0002514HP:0002514Cerebral calcification0ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1199
HP:0002514HP:0002514Cerebral calcification0ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2199
HP:0002514HP:0002514Cerebral calcification0ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3199
HP:0002514HP:0002514Cerebral calcification0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B199
HP:0002514HP:0002514Cerebral calcification0ERCC6 CL E G H20743438ORPHA:1466COFS syndromeHP:0040281 - Very frequent199
HP:0002514HP:0002514Cerebral calcification0ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0002514HP:0002514Cerebral calcification0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A55
HP:0002514HP:0002514Cerebral calcification0ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 155
HP:0002514HP:0002514Cerebral calcification0ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 255
HP:0002514HP:0002514Cerebral calcification0ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 355
HP:0002514HP:0002514Cerebral calcification0FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndrome8
HP:0002514HP:0002514Cerebral calcification0FAM111A CL E G H6390124725OMIM:127000Kenny-caffey syndrome, type 28
HP:0002514HP:0002514Cerebral calcification0FAM20C CL E G H5697522140OMIM:259775Raine syndrome.35
HP:0002514HP:0002514Cerebral calcification0FARSB CL E G H1005617800OMIM:613658Rajab interstitial lung disease with brain calcifications
HP:0002514HP:0002514Cerebral calcification0FGFR1 CL E G H22603688ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent172
HP:0002514HP:0002514Cerebral calcification0GATA3 CL E G H26254172OMIM:146255Hypoparathyroidism, sensorineural deafness, and renal dysplasia83
HP:0002514HP:0002514Cerebral calcification0GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia68
HP:0002514HP:0002514Cerebral calcification0GJA1 CL E G H26974274ORPHA:2710Oculodentodigital dysplasiaHP:0040282 - Frequent68
HP:0002514HP:0002514Cerebral calcification0GNA11 CL E G H27674379OMIM:615361Hypocalcemia, autosomal dominant 216
HP:0002514HP:0002514Cerebral calcification0GNAQ CL E G H27764390ORPHA:624Familial multiple nevi flammeiHP:0040283 - Occasional7
HP:0002514HP:0002514Cerebral calcification0GNAQ CL E G H27764390ORPHA:3205Sturge-Weber syndromeHP:0040283 - Occasional7
HP:0002514HP:0002514Cerebral calcification0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0002514HP:0002514Cerebral calcification0GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040283 - Occasional101
HP:0002514HP:0002514Cerebral calcification0GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA101
HP:0002514HP:0002514Cerebral calcification0GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC101
HP:0002514HP:0002514Cerebral calcification0HLA-DQA1 CL E G H31174942OMIM:212750Celiac disease, susceptibility to, 1
HP:0002514HP:0002514Cerebral calcification0HLA-DQB1 CL E G H31194944OMIM:212750Celiac disease, susceptibility to, 1
HP:0002514HP:0002514Cerebral calcification0HRAS CL E G H32655173ORPHA:2612Linear nevus sebaceus syndromeHP:0040283 - Occasional113
HP:0002514HP:0002514Cerebral calcification0IFIH1 CL E G H6413518873ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent28
HP:0002514HP:0002514Cerebral calcification0IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0002514HP:0002514Cerebral calcification0IFNG CL E G H34585438OMIM:613254Tuberous sclerosis-2.23
HP:0002514HP:0002514Cerebral calcification0IRF8 CL E G H33945358OMIM:226990Immunodeficiency 32B5
HP:0002514HP:0002514Cerebral calcification0ISG15 CL E G H96364053OMIM:616126Immunodeficiency 38 with basal ganglia calcification4
HP:0002514HP:0002514Cerebral calcification0JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0002514HP:0002514Cerebral calcification0JAM2 CL E G H5849414686ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent
HP:0002514HP:0002514Cerebral calcification0KARS1 CL E G H37356215OMIM:619147LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0002514HP:0002514Cerebral calcification0KATNB1 CL E G H103006217ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional10
HP:0002514HP:0002514Cerebral calcification0KL CL E G H93656344OMIM:617994TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC368
HP:0002514HP:0002514Cerebral calcification0KRAS CL E G H38456407ORPHA:2396Encephalocraniocutaneous lipomatosisHP:0040282 - Frequent196
HP:0002514HP:0002514Cerebral calcification0KRAS CL E G H38456407ORPHA:2612Linear nevus sebaceus syndromeHP:0040283 - Occasional196
HP:0002514HP:0002514Cerebral calcification0KRIT1 CL E G H8891573OMIM:116860Cerebral cavernous malformations 1.92
HP:0002514HP:0002514Cerebral calcification0LSM11 CL E G H13435330860ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0002514HP:0002514Cerebral calcification0LSM11 CL E G H13435330860OMIM:619486AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0002514HP:0002514Cerebral calcification0MGP CL E G H42567060OMIM:245150Keutel syndrome.33
HP:0002514HP:0002514Cerebral calcification0MYMK CL E G H38982733778ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040283 - Occasional5
HP:0002514HP:0002514Cerebral calcification0MYMX CL E G H10192972652391ORPHA:1358Carey-Fineman-Ziter syndromeHP:0040283 - Occasional
HP:0002514HP:0002514Cerebral calcification0MYO5A CL E G H46447602ORPHA:79476Griscelli syndrome type 1HP:0040283 - Occasional35
HP:0002514HP:0002514Cerebral calcification0MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0002514HP:0002514Cerebral calcification0MYORG CL E G H5746219918ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent
HP:0002514HP:0002514Cerebral calcification0ND1 CL E G H45357455ORPHA:550MELAS
HP:0002514HP:0002514Cerebral calcification0ND4 CL E G H45387459ORPHA:550MELAS
HP:0002514HP:0002514Cerebral calcification0ND5 CL E G H45407461ORPHA:550MELAS
HP:0002514HP:0002514Cerebral calcification0ND6 CL E G H45417462ORPHA:550MELAS
HP:0002514HP:0002514Cerebral calcification0NDE1 CL E G H5482017619ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional96
HP:0002514HP:0002514Cerebral calcification0NHP2 CL E G H5565114377ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional27
HP:0002514HP:0002514Cerebral calcification0NHP2 CL E G H5565114377OMIM:613987Dyskeratosis congenita, autosomal recessive, 2HP:0040283 - Occasional27
HP:0002514HP:0002514Cerebral calcification0NOP10 CL E G H5550514378ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional17
HP:0002514HP:0002514Cerebral calcification0NPM1 CL E G H48697910ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional12
HP:0002514HP:0002514Cerebral calcification0NRAS CL E G H48937989ORPHA:2612Linear nevus sebaceus syndromeHP:0040283 - Occasional102
HP:0002514HP:0002514Cerebral calcification0NSMCE3 CL E G H561607677OMIM:617241LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS2
HP:0002514HP:0002514Cerebral calcification0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyria.23
HP:0002514HP:0002514Cerebral calcification0OCLN CL E G H1005066588104ORPHA:1229Congenital intrauterine infection-like syndromeHP:0040281 - Very frequent23
HP:0002514HP:0002514Cerebral calcification0ODC1 CL E G H49538109OMIM:619075BACHMANN-BUPP SYNDROME; BABS1
HP:0002514HP:0002514Cerebral calcification0OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic form214
HP:0002514HP:0002514Cerebral calcification0PAH CL E G H50538582ORPHA:79254Classic phenylketonuriaHP:0040283 - Occasional641
HP:0002514HP:0002514Cerebral calcification0PARN CL E G H50738609ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional26
HP:0002514HP:0002514Cerebral calcification0PARN CL E G H50738609ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040283 - Occasional26
HP:0002514HP:0002514Cerebral calcification0PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 19
HP:0002514HP:0002514Cerebral calcification0PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 59
HP:0002514HP:0002514Cerebral calcification0PDGFB CL E G H51558800ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent9
HP:0002514HP:0002514Cerebral calcification0PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 128
HP:0002514HP:0002514Cerebral calcification0PDGFRB CL E G H51598804OMIM:615007Basal ganglia calcification, idiopathic, 428
HP:0002514HP:0002514Cerebral calcification0PDGFRB CL E G H51598804ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent28
HP:0002514HP:0002514Cerebral calcification0PEX1 CL E G H51898850ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040283 - Occasional169
HP:0002514HP:0002514Cerebral calcification0PEX6 CL E G H51908859ORPHA:3220Deafness-enamel hypoplasia-nail defects syndromeHP:0040283 - Occasional98
HP:0002514HP:0002514Cerebral calcification0PPFIBP1 CL E G H84969249OMIM:620024
HP:0002514HP:0002514Cerebral calcification0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0002514HP:0002514Cerebral calcification0PSMG2 CL E G H5698424929OMIM:619183PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0002514HP:0002514Cerebral calcification0PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0002514HP:0002514Cerebral calcification0PTCH1 CL E G H57279585ORPHA:377Gorlin syndromeHP:0040281 - Very frequent665
HP:0002514HP:0002514Cerebral calcification0PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3665
HP:0002514HP:0002514Cerebral calcification0PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0002514HP:0002514Cerebral calcification0PTCH2 CL E G H86439586ORPHA:377Gorlin syndromeHP:0040281 - Very frequent40
HP:0002514HP:0002514Cerebral calcification0PTH CL E G H57419606OMIM:146200Hypoparathyroidism, familial isolated.16
HP:0002514HP:0002514Cerebral calcification0QDPR CL E G H58609752OMIM:261630Hyperphenylalaninemia, bh4-deficient, C.43
HP:0002514HP:0002514Cerebral calcification0RELN CL E G H56499957ORPHA:89844Lissencephaly syndrome, Norman-Roberts typeHP:0040283 - Occasional334
HP:0002514HP:0002514Cerebral calcification0RNASEH2A CL E G H1053518518ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent33
HP:0002514HP:0002514Cerebral calcification0RNASEH2A CL E G H1053518518OMIM:610333Aicardi-Goutieres syndrome 433
HP:0002514HP:0002514Cerebral calcification0RNASEH2B CL E G H7962125671ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent34
HP:0002514HP:0002514Cerebral calcification0RNASEH2B CL E G H7962125671OMIM:610181Aicardi-Goutieres syndrome 234
HP:0002514HP:0002514Cerebral calcification0RNASEH2C CL E G H8415324116ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent60
HP:0002514HP:0002514Cerebral calcification0RNASEH2C CL E G H8415324116OMIM:610329Aicardi-Goutieres syndrome 360
HP:0002514HP:0002514Cerebral calcification0RNASET2 CL E G H863521686OMIM:612951Leukoencephalopathy, cystic, without megalencephalyHP:0040283 - Occasional37
HP:0002514HP:0002514Cerebral calcification0RNU7-1 CL E G H10014774434033ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent
HP:0002514HP:0002514Cerebral calcification0RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002514HP:0002514Cerebral calcification0RTEL1 CL E G H5175015888ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional77
HP:0002514HP:0002514Cerebral calcification0RTEL1 CL E G H5175015888ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040283 - Occasional77
HP:0002514HP:0002514Cerebral calcification0SAMHD1 CL E G H2593915925ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent55
HP:0002514HP:0002514Cerebral calcification0SAMHD1 CL E G H2593915925OMIM:612952Aicardi-Goutieres syndrome 555
HP:0002514HP:0002514Cerebral calcification0SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0002514HP:0002514Cerebral calcification0SLC12A3 CL E G H655910912ORPHA:358Gitelman syndromeHP:0040284 - Very rare145
HP:0002514HP:0002514Cerebral calcification0SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 170
HP:0002514HP:0002514Cerebral calcification0SLC20A2 CL E G H657510947ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent70
HP:0002514HP:0002514Cerebral calcification0SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0002514HP:0002514Cerebral calcification0SLC26A2 CL E G H183610994ORPHA:628Diastrophic dysplasiaHP:0040283 - Occasional166
HP:0002514HP:0002514Cerebral calcification0SLC29A3 CL E G H5531523096ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent68
HP:0002514HP:0002514Cerebral calcification0SLC2A1 CL E G H651311005ORPHA:168577Hereditary cryohydrocytosis with reduced stomatin255
HP:0002514HP:0002514Cerebral calcification0SLC46A1 CL E G H11323530521OMIM:229050Folate malabsorption, hereditary101
HP:0002514HP:0002514Cerebral calcification0SLC46A1 CL E G H11323530521ORPHA:90045Hereditary folate malabsorptionHP:0040283 - Occasional101
HP:0002514HP:0002514Cerebral calcification0SLC4A4 CL E G H867111030OMIM:604278Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation89
HP:0002514HP:0002514Cerebral calcification0SMARCB1 CL E G H659811103ORPHA:99966Atypical teratoid rhabdoid tumorHP:0040283 - Occasional87
HP:0002514HP:0002514Cerebral calcification0SNORD118 CL E G H72767632952ORPHA:542310Leukoencephalopathy with calcifications and cysts6
HP:0002514HP:0002514Cerebral calcification0SNORD118 CL E G H72767632952OMIM:614561Leukoencephalopathy, brain calcifications, and cysts.6
HP:0002514HP:0002514Cerebral calcification0SNRPB CL E G H662811153ORPHA:1393Cerebrocostomandibular syndromeHP:0040283 - Occasional6
HP:0002514HP:0002514Cerebral calcification0STAT2 CL E G H677311363OMIM:618886PSEUDO-TORCH SYNDROME 3; PTORCH39
HP:0002514HP:0002514Cerebral calcification0SUCLA2 CL E G H880311448ORPHA:1933Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduriaHP:0040281 - Very frequent66
HP:0002514HP:0002514Cerebral calcification0SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0002514HP:0002514Cerebral calcification0SUFU CL E G H5168416466ORPHA:377Gorlin syndromeHP:0040281 - Very frequent124
HP:0002514HP:0002514Cerebral calcification0TCIRG1 CL E G H1031211647ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent82
HP:0002514HP:0002514Cerebral calcification0TERC CL E G H701211727ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional48
HP:0002514HP:0002514Cerebral calcification0TERT CL E G H701511730ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional238
HP:0002514HP:0002514Cerebral calcification0TERT CL E G H701511730ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040283 - Occasional238
HP:0002514HP:0002514Cerebral calcification0TINF2 CL E G H2627711824ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional60
HP:0002514HP:0002514Cerebral calcification0TINF2 CL E G H2627711824OMIM:613990Dyskeratosis congenita, autosomal dominant 3.60
HP:0002514HP:0002514Cerebral calcification0TINF2 CL E G H2627711824ORPHA:3322Hoyeraal-Hreidarsson syndromeHP:0040283 - Occasional60
HP:0002514HP:0002514Cerebral calcification0TINF2 CL E G H2627711824OMIM:268130Revesz syndrome.60
HP:0002514HP:0002514Cerebral calcification0TNFRSF11A CL E G H879211908ORPHA:1782DysosteosclerosisHP:0040281 - Very frequent72
HP:0002514HP:0002514Cerebral calcification0TREM2 CL E G H5420917761ORPHA:2770Nasu-Hakola diseaseHP:0040282 - Frequent31
HP:0002514HP:0002514Cerebral calcification0TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231
HP:0002514HP:0002514Cerebral calcification0TREX1 CL E G H1127712269ORPHA:51Aicardi-Goutières syndromeHP:0040282 - Frequent56
HP:0002514HP:0002514Cerebral calcification0TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0002514HP:0002514Cerebral calcification0TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040283 - Occasional56
HP:0002514HP:0002514Cerebral calcification0TRNF CL E G H45587481ORPHA:550MELAS
HP:0002514HP:0002514Cerebral calcification0TRNH CL E G H45647487ORPHA:550MELAS
HP:0002514HP:0002514Cerebral calcification0TRNL1 CL E G H45677490ORPHA:550MELAS
HP:0002514HP:0002514Cerebral calcification0TRNQ CL E G H45727495ORPHA:550MELAS
HP:0002514HP:0002514Cerebral calcification0TRNS1 CL E G H45747497ORPHA:550MELAS
HP:0002514HP:0002514Cerebral calcification0TRNS2 CL E G H45757498ORPHA:550MELAS
HP:0002514HP:0002514Cerebral calcification0TRNW CL E G H45787501ORPHA:550MELAS
HP:0002514HP:0002514Cerebral calcification0TSC1 CL E G H724812362OMIM:191100Tuberous sclerosis-1.1090
HP:0002514HP:0002514Cerebral calcification0TSC2 CL E G H724912363OMIM:613254Tuberous sclerosis-2.2738
HP:0002514HP:0002514Cerebral calcification0TYMS CL E G H729812441ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional1
HP:0002514HP:0002514Cerebral calcification0TYROBP CL E G H730512449ORPHA:2770Nasu-Hakola diseaseHP:0040282 - Frequent22
HP:0002514HP:0002514Cerebral calcification0TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy22
HP:0002514HP:0002514Cerebral calcification0USB1 CL E G H7965025792ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional8
HP:0002514HP:0002514Cerebral calcification0USP18 CL E G H1127412616OMIM:617397Pseudo-Torch syndrome 2.2
HP:0002514HP:0002514Cerebral calcification0VPS33A CL E G H6508218179ORPHA:505248Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disordersHP:0040283 - Occasional1
HP:0002514HP:0002514Cerebral calcification0VPS33A CL E G H6508218179OMIM:617303Mucopolysaccharidosis-Plus syndrome1
HP:0002514HP:0002514Cerebral calcification0WRAP53 CL E G H5513525522ORPHA:1775Dyskeratosis congenitaHP:0040283 - Occasional40
HP:0002514HP:0002514Cerebral calcification0XPR1 CL E G H921312827OMIM:616413Basal ganglia calcification, idiopathic, 64
HP:0002514HP:0002514Cerebral calcification0XPR1 CL E G H921312827ORPHA:1980Bilateral striopallidodentate calcinosisHP:0040281 - Very frequent4
HP:0002514HP:0002514Cerebral calcification0ZBTB20 CL E G H2613713503OMIM:259050Primrose syndrome17
HP:0002514HP:0002514Cerebral calcification0ZNFX1 CL E G H5716929271OMIM:619644IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002514HP:0010513Pituitary calcification1 CL E G H
HP:0002514HP:0007238Nonarteriosclerotic cerebral calcification1 CL E G H
HP:0002514HP:0007045Midline brain calcifications1 CL E G H
HP:0002514HP:0006906Congenital intracerebral calcification1 CL E G H
HP:0002514HP:0005849Diffuse cerebral calcification1 CL E G H
HP:0002514HP:0005462Calcification of falx cerebri1ABCC6 CL E G H36857OMIM:177850Pseudoxanthoma elasticum, forme fruste.415
HP:0002514HP:0002135Basal ganglia calcification1ACVR1 CL E G H90171OMIM:135100Fibrodysplasia ossificans progressivaHP:0040284 - Very rare49
HP:0002514HP:0002135Basal ganglia calcification1CA2 CL E G H7601373ORPHA:2785Osteopetrosis with renal tubular acidosis29
HP:0002514HP:0002135Basal ganglia calcification1CA2 CL E G H7601373OMIM:259730Osteopetrosis, autosomal recessive 3.29
HP:0002514HP:0002135Basal ganglia calcification1CASR CL E G H8461514OMIM:601198Hypocalcemia, autosomal dominant 1272
HP:0002514HP:0100250Meningeal calcification1COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0002514HP:0005462Calcification of falx cerebri1COL11A1 CL E G H13012186OMIM:154780Marshall syndrome.215
HP:0002514HP:0002135Basal ganglia calcification1COX1 CL E G H45127419ORPHA:550MELASHP:0040282 - Frequent
HP:0002514HP:0002135Basal ganglia calcification1COX2 CL E G H45137421ORPHA:550MELASHP:0040282 - Frequent
HP:0002514HP:0002135Basal ganglia calcification1COX3 CL E G H45147422ORPHA:550MELASHP:0040282 - Frequent
HP:0002514HP:0007229Intracerebral periventricular calcifications1CPT2 CL E G H13762330ORPHA:228308Carnitine palmitoyl transferase II deficiency, neonatal formHP:0040283 - Occasional101
HP:0002514HP:0007229Intracerebral periventricular calcifications1CPT2 CL E G H13762330OMIM:608836Carnitine palmitoyltransferase II deficiency, lethal neonatal.101
HP:0002514HP:0006960Choroid plexus calcification1CTSC CL E G H10752528OMIM:245000Papillon-Lefevre syndrome.50
HP:0002514HP:0002135Basal ganglia calcification1CYP2U1 CL E G H11361220582OMIM:615030Spastic paraplegia 56, autosomal recessiveHP:0040283 - Occasional18
HP:0002514HP:0005462Calcification of falx cerebri1DDR2 CL E G H49212731OMIM:271665Spondylometaepiphyseal dysplasia, short Limb-Hand type.45
HP:0002514HP:0002135Basal ganglia calcification1DNM1L CL E G H100592973ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare94
HP:0002514HP:0034293Temporal lobe calcification1ECM1 CL E G H18933153OMIM:247100Urbach-Wiethe disease14
HP:0002514HP:0005671Bilateral intracerebral calcifications1ECM1 CL E G H18933153OMIM:247100Urbach-Wiethe disease.14
HP:0002514HP:0007346Subcortical white matter calcifications1ERCC1 CL E G H20673433ORPHA:90322Cockayne syndrome type 2HP:0040281 - Very frequent20
HP:0002514HP:0002135Basal ganglia calcification1ERCC3 CL E G H20713435OMIM:610651Xeroderma pigmentosum, complementation group B.54
HP:0002514HP:0002135Basal ganglia calcification1ERCC4 CL E G H20723436ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent158
HP:0002514HP:0002135Basal ganglia calcification1ERCC6 CL E G H20743438OMIM:214150Cerebrooculofacioskeletal syndrome 1199
HP:0002514HP:0002135Basal ganglia calcification1ERCC6 CL E G H20743438ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent199
HP:0002514HP:0007346Subcortical white matter calcifications1ERCC6 CL E G H20743438ORPHA:90322Cockayne syndrome type 2HP:0040281 - Very frequent199
HP:0002514HP:0007346Subcortical white matter calcifications1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040281 - Very frequent199
HP:0002514HP:0002135Basal ganglia calcification1ERCC6 CL E G H20743438ORPHA:90324Cockayne syndrome type 3HP:0040281 - Very frequent199
HP:0002514HP:0002135Basal ganglia calcification1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0002514HP:0007346Subcortical white matter calcifications1ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0002514HP:0002135Basal ganglia calcification1ERCC6 CL E G H20743438OMIM:278800De Sanctis-Cacchione syndrome199
HP:0002514HP:0002135Basal ganglia calcification1ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0002514HP:0002135Basal ganglia calcification1ERCC8 CL E G H11613439ORPHA:90321Cockayne syndrome type 1HP:0040281 - Very frequent55
HP:0002514HP:0007346Subcortical white matter calcifications1ERCC8 CL E G H11613439ORPHA:90322Cockayne syndrome type 2HP:0040281 - Very frequent55
HP:0002514HP:0002135Basal ganglia calcification1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040281 - Very frequent55
HP:0002514HP:0007346Subcortical white matter calcifications1ERCC8 CL E G H11613439ORPHA:90324Cockayne syndrome type 3HP:0040281 - Very frequent55
HP:0002514HP:0002135Basal ganglia calcification1FAM111A CL E G H6390124725ORPHA:93325Autosomal dominant Kenny-Caffey syndromeHP:0040282 - Frequent8
HP:0002514HP:0002135Basal ganglia calcification1FAM111A CL E G H6390124725OMIM:127000Kenny-caffey syndrome, type 2.8
HP:0002514HP:0002135Basal ganglia calcification1GATA3 CL E G H26254172OMIM:146255Hypoparathyroidism, sensorineural deafness, and renal dysplasia83
HP:0002514HP:0002135Basal ganglia calcification1GJA1 CL E G H26974274OMIM:164200Oculodentodigital dysplasia.68
HP:0002514HP:0002135Basal ganglia calcification1GNA11 CL E G H27674379OMIM:615361Hypocalcemia, autosomal dominant 2HP:0040283 - Occasional16
HP:0002514HP:0006960Choroid plexus calcification1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:0002514HP:0002135Basal ganglia calcification1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040282 - Frequent101
HP:0002514HP:0002135Basal ganglia calcification1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:0002514HP:0006960Choroid plexus calcification1GNAS CL E G H27784392ORPHA:79444Pseudohypoparathyroidism type 1CHP:0040282 - Frequent101
HP:0002514HP:0002135Basal ganglia calcification1GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA.101
HP:0002514HP:0006960Choroid plexus calcification1GNAS CL E G H27784392OMIM:103580Pseudohypoparathyroidism, type IA.101
HP:0002514HP:0002135Basal ganglia calcification1GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC.101
HP:0002514HP:0006960Choroid plexus calcification1GNAS CL E G H27784392OMIM:612462Pseudohypoparathyroidism, type IC.101
HP:0002514HP:0002135Basal ganglia calcification1IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 7.28
HP:0002514HP:0007229Intracerebral periventricular calcifications1IFIH1 CL E G H6413518873OMIM:615846Aicardi-Goutieres syndrome 728
HP:0002514HP:0002135Basal ganglia calcification1ISG15 CL E G H96364053OMIM:616126Immunodeficiency 38 with basal ganglia calcification4
HP:0002514HP:0002135Basal ganglia calcification1JAM2 CL E G H5849414686OMIM:618824BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8
HP:0002514HP:0002135Basal ganglia calcification1LSM11 CL E G H13435330860OMIM:619486AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0002514HP:0002135Basal ganglia calcification1MYORG CL E G H5746219918OMIM:618317Basal ganglia calcification, idiopathic, 7, autosomal recessive
HP:0002514HP:0002135Basal ganglia calcification1ND1 CL E G H45357455ORPHA:550MELASHP:0040282 - Frequent
HP:0002514HP:0002135Basal ganglia calcification1ND4 CL E G H45387459ORPHA:550MELASHP:0040282 - Frequent
HP:0002514HP:0002135Basal ganglia calcification1ND5 CL E G H45407461ORPHA:550MELASHP:0040282 - Frequent
HP:0002514HP:0002135Basal ganglia calcification1ND6 CL E G H45417462ORPHA:550MELASHP:0040282 - Frequent
HP:0002514HP:0002135Basal ganglia calcification1OPA1 CL E G H49768140ORPHA:98673Autosomal dominant optic atrophy, classic formHP:0040284 - Very rare214
HP:0002514HP:0002135Basal ganglia calcification1PDGFB CL E G H51558800OMIM:213600Basal ganglia calcification, idiopathic, 1.9
HP:0002514HP:0002135Basal ganglia calcification1PDGFB CL E G H51558800OMIM:615483Basal ganglia calcification, idiopathic, 5.9
HP:0002514HP:0002135Basal ganglia calcification1PDGFRB CL E G H51598804OMIM:213600Basal ganglia calcification, idiopathic, 1.28
HP:0002514HP:0002135Basal ganglia calcification1PDGFRB CL E G H51598804OMIM:615007Basal ganglia calcification, idiopathic, 4.28
HP:0002514HP:0002135Basal ganglia calcification1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0002514HP:0002135Basal ganglia calcification1PSMG2 CL E G H5698424929OMIM:619183PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0002514HP:0005462Calcification of falx cerebri1PTCH1 CL E G H57279585OMIM:109400Basal cell nevus syndrome665
HP:0002514HP:0005462Calcification of falx cerebri1PTCH1 CL E G H57279585ORPHA:77301Monosomy 9q22.3HP:0040281 - Very frequent665
HP:0002514HP:0005462Calcification of falx cerebri1PTCH2 CL E G H86439586OMIM:109400Basal cell nevus syndrome40
HP:0002514HP:0002135Basal ganglia calcification1RNASEH2B CL E G H7962125671OMIM:610181Aicardi-Goutieres syndrome 234
HP:0002514HP:0002135Basal ganglia calcification1RNU7-1 CL E G H10014774434033OMIM:619487AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002514HP:0002135Basal ganglia calcification1SAMHD1 CL E G H2593915925OMIM:612952Aicardi-Goutieres syndrome 5.55
HP:0002514HP:0002135Basal ganglia calcification1SLC20A2 CL E G H657510947OMIM:213600Basal ganglia calcification, idiopathic, 1.70
HP:0002514HP:0002135Basal ganglia calcification1SLC25A46 CL E G H9113725198OMIM:616505Neuropathy, hereditary motor and sensory, type VIB14
HP:0002514HP:0007229Intracerebral periventricular calcifications1SLC2A1 CL E G H651311005ORPHA:168577Hereditary cryohydrocytosis with reduced stomatinHP:0040283 - Occasional255
HP:0002514HP:0002135Basal ganglia calcification1SLC46A1 CL E G H11323530521OMIM:229050Folate malabsorption, hereditary.101
HP:0002514HP:0007346Subcortical white matter calcifications1SNORD118 CL E G H72767632952ORPHA:542310Leukoencephalopathy with calcifications and cysts6
HP:0002514HP:0002135Basal ganglia calcification1SNORD118 CL E G H72767632952ORPHA:542310Leukoencephalopathy with calcifications and cysts6
HP:0002514HP:0007229Intracerebral periventricular calcifications1SNORD118 CL E G H72767632952ORPHA:542310Leukoencephalopathy with calcifications and cysts6
HP:0002514HP:0005462Calcification of falx cerebri1SUFU CL E G H5168416466OMIM:109400Basal cell nevus syndrome124
HP:0002514HP:0002135Basal ganglia calcification1TREM2 CL E G H5420917761OMIM:618193POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL231
HP:0002514HP:0007229Intracerebral periventricular calcifications1TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0002514HP:0002135Basal ganglia calcification1TREX1 CL E G H1127712269OMIM:225750Aicardi-Goutieres syndrome 156
HP:0002514HP:0002135Basal ganglia calcification1TRNF CL E G H45587481ORPHA:550MELASHP:0040282 - Frequent
HP:0002514HP:0002135Basal ganglia calcification1TRNH CL E G H45647487ORPHA:550MELASHP:0040282 - Frequent
HP:0002514HP:0002135Basal ganglia calcification1TRNL1 CL E G H45677490ORPHA:550MELASHP:0040282 - Frequent
HP:0002514HP:0002135Basal ganglia calcification1TRNQ CL E G H45727495ORPHA:550MELASHP:0040282 - Frequent
HP:0002514HP:0002135Basal ganglia calcification1TRNS1 CL E G H45747497ORPHA:550MELASHP:0040282 - Frequent
HP:0002514HP:0002135Basal ganglia calcification1TRNS2 CL E G H45757498ORPHA:550MELASHP:0040282 - Frequent
HP:0002514HP:0002135Basal ganglia calcification1TRNW CL E G H45787501ORPHA:550MELASHP:0040282 - Frequent
HP:0002514HP:0002135Basal ganglia calcification1TYROBP CL E G H730512449OMIM:221770Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy.22
HP:0002514HP:0002135Basal ganglia calcification1XPR1 CL E G H921312827OMIM:616413Basal ganglia calcification, idiopathic, 64


Genes (143) :ABCC6 ACD ACP5 ACVR1 ADAR AIRE AMER1 AP1S2 APP ATP7A BRAF CA2 CASR CLCNKB COL11A1 COL2A1 COLGALT1 COX1 COX2 COX3 CPT2 CSF1R CTC1 CTNNB1 CTNS CTSC CYP2U1 DAG1 DDR2 DENND5A DKC1 DNM1L ECM1 ENPP1 ERCC1 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 FAM111A FAM20C FARSB FGFR1 GATA3 GJA1 GNA11 GNAQ GNAS HLA-DQA1 HLA-DQB1 HRAS IFIH1 IFNG IRF8 ISG15 JAM2 KARS1 KATNB1 KL KRAS KRIT1 LSM11 MGP MYMK MYMX MYO5A MYORG ND1 ND4 ND5 ND6 NDE1 NHP2 NOP10 NPM1 NRAS NSMCE3 OCLN ODC1 OPA1 PAH PARN PDGFB PDGFRB PEX1 PEX6 PPFIBP1 PSMB8 PSMG2 PTCH1 PTCH2 PTH QDPR RELN RNASEH2A RNASEH2B RNASEH2C RNASET2 RNU7-1 RTEL1 SAMHD1 SC5D SLC12A3 SLC20A2 SLC25A46 SLC26A2 SLC29A3 SLC2A1 SLC46A1 SLC4A4 SMARCB1 SNORD118 SNRPB STAT2 SUCLA2 SUFU TCIRG1 TERC TERT TINF2 TNFRSF11A TREM2 TREX1 TRNF TRNH TRNL1 TRNQ TRNS1 TRNS2 TRNW TSC1 TSC2 TYMS TYROBP USB1 USP18 VPS33A WRAP53 XPR1 ZBTB20 ZNFX1

Diseases (133) :ORPHA:51608 ORPHA:758 OMIM:177850 ORPHA:3322 ORPHA:1855 OMIM:607944 OMIM:135100 ORPHA:51 OMIM:615010 ORPHA:3453 ORPHA:2780 ORPHA:85335 OMIM:304340 ORPHA:100006 ORPHA:198 ORPHA:54595 ORPHA:2785 OMIM:259730 OMIM:601198 ORPHA:358 ORPHA:560 OMIM:154780 ORPHA:85198 OMIM:618360 ORPHA:550 ORPHA:228308 OMIM:608836 OMIM:618476 OMIM:612199 ORPHA:1775 OMIM:219800 ORPHA:678 OMIM:245000 OMIM:615030 OMIM:616538 OMIM:271665 OMIM:617281 ORPHA:98673 ORPHA:530 OMIM:247100 ORPHA:90322 ORPHA:1466 OMIM:610651 ORPHA:90321 OMIM:214150 ORPHA:90324 OMIM:133540 OMIM:278800 OMIM:216400 ORPHA:93325 OMIM:127000 OMIM:259775 OMIM:613658 ORPHA:2396 OMIM:146255 OMIM:164200 ORPHA:2710 OMIM:615361 ORPHA:624 ORPHA:3205 ORPHA:79443 ORPHA:79444 OMIM:103580 OMIM:612462 OMIM:212750 ORPHA:2612 OMIM:615846 OMIM:613254 OMIM:226990 OMIM:616126 OMIM:618824 ORPHA:1980 OMIM:619147 ORPHA:89844 OMIM:617994 OMIM:116860 OMIM:619486 OMIM:245150 ORPHA:1358 ORPHA:79476 OMIM:618317 OMIM:613987 OMIM:617241 OMIM:251290 ORPHA:1229 OMIM:619075 ORPHA:79254 OMIM:213600 OMIM:615483 OMIM:615007 ORPHA:3220 OMIM:620024 OMIM:256040 OMIM:619183 OMIM:109400 ORPHA:377 ORPHA:77301 OMIM:146200 OMIM:261630 OMIM:610333 OMIM:610181 OMIM:610329 OMIM:612951 OMIM:619487 OMIM:612952 ORPHA:46059 OMIM:616505 ORPHA:628 ORPHA:1782 ORPHA:168577 OMIM:229050 ORPHA:90045 OMIM:604278 ORPHA:99966 ORPHA:542310 OMIM:614561 ORPHA:1393 OMIM:618886 ORPHA:1933 OMIM:613990 OMIM:268130 ORPHA:2770 OMIM:618193 OMIM:225750 ORPHA:247691 OMIM:191100 OMIM:221770 OMIM:617397 ORPHA:505248 OMIM:617303 OMIM:616413 OMIM:259050 OMIM:619644
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.