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:0002514 | HP:0002514 | Cerebral calcification | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040284 - Very rare | | | 415 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 415 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ABCC6 CL E G H | 368 | 57 | OMIM:177850 | Pseudoxanthoma elasticum, forme fruste | | | | 415 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040283 - Occasional | | | 11 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ACP5 CL E G H | 54 | 124 | ORPHA:1855 | Spondyloenchondrodysplasia | HP:0040283 - Occasional | | | 16 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ACP5 CL E G H | 54 | 124 | OMIM:607944 | Spondyloenchondrodysplasia with immune dysregulation | | | | 16 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | | | | 49 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ADAR CL E G H | 103 | 225 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 116 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ADAR CL E G H | 103 | 225 | OMIM:615010 | Aicardi-Goutieres syndrome 6 | HP:0040283 - Occasional | | | 116 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | HP:0040283 - Occasional | | | 92 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | AP1S2 CL E G H | 8905 | 560 | ORPHA:85335 | Fried syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | AP1S2 CL E G H | 8905 | 560 | OMIM:304340 | Pettigrew syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | APP CL E G H | 351 | 620 | ORPHA:100006 | ABeta amyloidosis, Dutch type | HP:0040282 - Frequent | | | 74 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ATP7A CL E G H | 538 | 869 | ORPHA:198 | Occipital horn syndrome | HP:0040281 - Very frequent | | | 192 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | BRAF CL E G H | 673 | 1097 | ORPHA:54595 | Craniopharyngioma | HP:0040281 - Very frequent | | | 276 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | HP:0040282 - Frequent | | | 29 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CA2 CL E G H | 760 | 1373 | OMIM:259730 | Osteopetrosis, autosomal recessive 3 | | | | 29 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | | | | 272 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CLCNKB CL E G H | 1188 | 2027 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 27 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | | | | 215 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:85198 | Dysspondyloenchondromatosis | HP:0040283 - Occasional | | | 284 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | COLGALT1 CL E G H | 79709 | 26182 | OMIM:618360 | Brain small vessel disease 3 | . | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040282 - Frequent | | | 101 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | | | | 101 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | | | | 149 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CTC1 CL E G H | 80169 | 26169 | OMIM:612199 | Cerebroretinal microangiopathy with calcifications and cysts | . | | | 160 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 160 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:54595 | Craniopharyngioma | HP:0040281 - Very frequent | | | 88 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CTSC CL E G H | 1075 | 2528 | ORPHA:678 | Papillon-Lefèvre syndrome | HP:0040282 - Frequent | | | 50 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CTSC CL E G H | 1075 | 2528 | OMIM:245000 | Papillon-Lefevre syndrome | | | | 50 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | CYP2U1 CL E G H | 113612 | 20582 | OMIM:615030 | Spastic paraplegia 56, autosomal recessive | | | | 18 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | . | | | 108 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | | | | 45 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | DENND5A CL E G H | 23258 | 19344 | OMIM:617281 | Epileptic encephalopathy, early infantile, 49 | HP:0040284 - Very rare | | | 6 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 65 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040283 - Occasional | | | 65 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | | | | 94 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ECM1 CL E G H | 1893 | 3153 | ORPHA:530 | Lipoid proteinosis | HP:0040283 - Occasional | | | 14 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ECM1 CL E G H | 1893 | 3153 | OMIM:247100 | Urbach-Wiethe disease | | | | 14 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:51608 | Generalized arterial calcification of infancy | HP:0040284 - Very rare | | | 151 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040283 - Occasional | | | 151 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 20 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 20 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 106 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC3 CL E G H | 2071 | 3435 | OMIM:610651 | Xeroderma pigmentosum, complementation group B | | | | 54 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 158 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 199 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 199 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 199 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | | | | 199 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:1466 | COFS syndrome | HP:0040281 - Very frequent | | | 199 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | | | | 199 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | | | | 55 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | | | | 55 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | | | | 55 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | | | | 55 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | | | | 8 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:127000 | Kenny-caffey syndrome, type 2 | | | | 8 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | FAM20C CL E G H | 56975 | 22140 | OMIM:259775 | Raine syndrome | . | | | 35 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | FARSB CL E G H | 10056 | 17800 | OMIM:613658 | Rajab interstitial lung disease with brain calcifications | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 172 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | GATA3 CL E G H | 2625 | 4172 | OMIM:146255 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia | | | | 83 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | | | | 68 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | GJA1 CL E G H | 2697 | 4274 | ORPHA:2710 | Oculodentodigital dysplasia | HP:0040282 - Frequent | | | 68 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | GNA11 CL E G H | 2767 | 4379 | OMIM:615361 | Hypocalcemia, autosomal dominant 2 | | | | 16 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:624 | Familial multiple nevi flammei | HP:0040283 - Occasional | | | 7 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | GNAQ CL E G H | 2776 | 4390 | ORPHA:3205 | Sturge-Weber syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040283 - Occasional | | | 101 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040283 - Occasional | | | 101 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | | | | 101 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | | | | 101 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | HLA-DQA1 CL E G H | 3117 | 4942 | OMIM:212750 | Celiac disease, susceptibility to, 1 | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | HLA-DQB1 CL E G H | 3119 | 4944 | OMIM:212750 | Celiac disease, susceptibility to, 1 | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | IFIH1 CL E G H | 64135 | 18873 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 28 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | IFNG CL E G H | 3458 | 5438 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 23 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | IRF8 CL E G H | 3394 | 5358 | OMIM:226990 | Immunodeficiency 32B | | | | 5 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ISG15 CL E G H | 9636 | 4053 | OMIM:616126 | Immunodeficiency 38 with basal ganglia calcification | | | | 4 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | JAM2 CL E G H | 58494 | 14686 | OMIM:618824 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8 | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | JAM2 CL E G H | 58494 | 14686 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | KARS1 CL E G H | 3735 | 6215 | OMIM:619147 | LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | KATNB1 CL E G H | 10300 | 6217 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 10 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | KL CL E G H | 9365 | 6344 | OMIM:617994 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3; HFTC3 | | | | 68 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040282 - Frequent | | | 196 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | KRIT1 CL E G H | 889 | 1573 | OMIM:116860 | Cerebral cavernous malformations 1 | . | | | 92 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | LSM11 CL E G H | 134353 | 30860 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | LSM11 CL E G H | 134353 | 30860 | OMIM:619486 | AICARDI-GOUTIERES SYNDROME 8; AGS8 | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MGP CL E G H | 4256 | 7060 | OMIM:245150 | Keutel syndrome | . | | | 33 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MYMK CL E G H | 389827 | 33778 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040283 - Occasional | | | 5 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MYMX CL E G H | 101929726 | 52391 | ORPHA:1358 | Carey-Fineman-Ziter syndrome | HP:0040283 - Occasional | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79476 | Griscelli syndrome type 1 | HP:0040283 - Occasional | | | 35 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MYORG CL E G H | 57462 | 19918 | OMIM:618317 | Basal ganglia calcification, idiopathic, 7, autosomal recessive | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | MYORG CL E G H | 57462 | 19918 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | NDE1 CL E G H | 54820 | 17619 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 96 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 27 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | NHP2 CL E G H | 55651 | 14377 | OMIM:613987 | Dyskeratosis congenita, autosomal recessive, 2 | HP:0040283 - Occasional | | | 27 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 17 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 12 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | NSMCE3 CL E G H | 56160 | 7677 | OMIM:617241 | LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS | | | | 2 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | . | | | 23 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | OCLN CL E G H | 100506658 | 8104 | ORPHA:1229 | Congenital intrauterine infection-like syndrome | HP:0040281 - Very frequent | | | 23 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ODC1 CL E G H | 4953 | 8109 | OMIM:619075 | BACHMANN-BUPP SYNDROME; BABS | | | | 1 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | | | | 214 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PAH CL E G H | 5053 | 8582 | ORPHA:79254 | Classic phenylketonuria | HP:0040283 - Occasional | | | 641 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 26 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040283 - Occasional | | | 26 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 9 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PDGFB CL E G H | 5155 | 8800 | OMIM:615483 | Basal ganglia calcification, idiopathic, 5 | | | | 9 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PDGFB CL E G H | 5155 | 8800 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | 9 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 28 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PDGFRB CL E G H | 5159 | 8804 | OMIM:615007 | Basal ganglia calcification, idiopathic, 4 | | | | 28 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PDGFRB CL E G H | 5159 | 8804 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | 28 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PEX1 CL E G H | 5189 | 8850 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040283 - Occasional | | | 169 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PEX6 CL E G H | 5190 | 8859 | ORPHA:3220 | Deafness-enamel hypoplasia-nail defects syndrome | HP:0040283 - Occasional | | | 98 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PSMG2 CL E G H | 56984 | 24929 | OMIM:619183 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4 | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:377 | Gorlin syndrome | HP:0040281 - Very frequent | | | 665 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | | | | 665 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PTCH2 CL E G H | 8643 | 9586 | ORPHA:377 | Gorlin syndrome | HP:0040281 - Very frequent | | | 40 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | PTH CL E G H | 5741 | 9606 | OMIM:146200 | Hypoparathyroidism, familial isolated | . | | | 16 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | QDPR CL E G H | 5860 | 9752 | OMIM:261630 | Hyperphenylalaninemia, bh4-deficient, C | . | | | 43 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RELN CL E G H | 5649 | 9957 | ORPHA:89844 | Lissencephaly syndrome, Norman-Roberts type | HP:0040283 - Occasional | | | 334 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RNASEH2A CL E G H | 10535 | 18518 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RNASEH2A CL E G H | 10535 | 18518 | OMIM:610333 | Aicardi-Goutieres syndrome 4 | | | | 33 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RNASEH2B CL E G H | 79621 | 25671 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 34 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RNASEH2B CL E G H | 79621 | 25671 | OMIM:610181 | Aicardi-Goutieres syndrome 2 | | | | 34 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RNASEH2C CL E G H | 84153 | 24116 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 60 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RNASEH2C CL E G H | 84153 | 24116 | OMIM:610329 | Aicardi-Goutieres syndrome 3 | | | | 60 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RNASET2 CL E G H | 8635 | 21686 | OMIM:612951 | Leukoencephalopathy, cystic, without megalencephaly | HP:0040283 - Occasional | | | 37 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RNU7-1 CL E G H | 100147744 | 34033 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 77 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040283 - Occasional | | | 77 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SAMHD1 CL E G H | 25939 | 15925 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SAMHD1 CL E G H | 25939 | 15925 | OMIM:612952 | Aicardi-Goutieres syndrome 5 | | | | 55 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040282 - Frequent | | | 80 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SLC12A3 CL E G H | 6559 | 10912 | ORPHA:358 | Gitelman syndrome | HP:0040284 - Very rare | | | 145 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | | | | 70 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SLC20A2 CL E G H | 6575 | 10947 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | 70 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | | | | 14 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SLC26A2 CL E G H | 1836 | 10994 | ORPHA:628 | Diastrophic dysplasia | HP:0040283 - Occasional | | | 166 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 68 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:168577 | Hereditary cryohydrocytosis with reduced stomatin | | | | 255 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SLC46A1 CL E G H | 113235 | 30521 | OMIM:229050 | Folate malabsorption, hereditary | | | | 101 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SLC46A1 CL E G H | 113235 | 30521 | ORPHA:90045 | Hereditary folate malabsorption | HP:0040283 - Occasional | | | 101 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SLC4A4 CL E G H | 8671 | 11030 | OMIM:604278 | Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation | | | | 89 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:99966 | Atypical teratoid rhabdoid tumor | HP:0040283 - Occasional | | | 87 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SNORD118 CL E G H | 727676 | 32952 | ORPHA:542310 | Leukoencephalopathy with calcifications and cysts | | | | 6 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SNORD118 CL E G H | 727676 | 32952 | OMIM:614561 | Leukoencephalopathy, brain calcifications, and cysts | . | | | 6 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SNRPB CL E G H | 6628 | 11153 | ORPHA:1393 | Cerebrocostomandibular syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | STAT2 CL E G H | 6773 | 11363 | OMIM:618886 | PSEUDO-TORCH SYNDROME 3; PTORCH3 | | | | 9 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SUCLA2 CL E G H | 8803 | 11448 | ORPHA:1933 | Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | HP:0040281 - Very frequent | | | 66 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:377 | Gorlin syndrome | HP:0040281 - Very frequent | | | 124 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 48 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 238 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040283 - Occasional | | | 238 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 60 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:613990 | Dyskeratosis congenita, autosomal dominant 3 | . | | | 60 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:3322 | Hoyeraal-Hreidarsson syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TINF2 CL E G H | 26277 | 11824 | OMIM:268130 | Revesz syndrome | . | | | 60 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 72 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TREM2 CL E G H | 54209 | 17761 | ORPHA:2770 | Nasu-Hakola disease | HP:0040282 - Frequent | | | 31 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TREM2 CL E G H | 54209 | 17761 | OMIM:618193 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 | | | | 31 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:51 | Aicardi-Goutières syndrome | HP:0040282 - Frequent | | | 56 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TREX1 CL E G H | 11277 | 12269 | ORPHA:247691 | Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations | HP:0040283 - Occasional | | | 56 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | | | | | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TSC1 CL E G H | 7248 | 12362 | OMIM:191100 | Tuberous sclerosis-1 | . | | | 1090 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TSC2 CL E G H | 7249 | 12363 | OMIM:613254 | Tuberous sclerosis-2 | . | | | 2738 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 1 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TYROBP CL E G H | 7305 | 12449 | ORPHA:2770 | Nasu-Hakola disease | HP:0040282 - Frequent | | | 22 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | | | | 22 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 8 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | USP18 CL E G H | 11274 | 12616 | OMIM:617397 | Pseudo-Torch syndrome 2 | . | | | 2 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | VPS33A CL E G H | 65082 | 18179 | ORPHA:505248 | Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders | HP:0040283 - Occasional | | | 1 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | VPS33A CL E G H | 65082 | 18179 | OMIM:617303 | Mucopolysaccharidosis-Plus syndrome | | | | 1 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040283 - Occasional | | | 40 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | XPR1 CL E G H | 9213 | 12827 | OMIM:616413 | Basal ganglia calcification, idiopathic, 6 | | | | 4 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | XPR1 CL E G H | 9213 | 12827 | ORPHA:1980 | Bilateral striopallidodentate calcinosis | HP:0040281 - Very frequent | | | 4 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ZBTB20 CL E G H | 26137 | 13503 | OMIM:259050 | Primrose syndrome | | | | 17 | | |
HP:0002514 | HP:0002514 | Cerebral calcification | 0 | ZNFX1 CL E G H | 57169 | 29271 | OMIM:619644 | IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91 | | | | | | |
HP:0002514 | HP:0010513 | Pituitary calcification | 1 | CL E G H | | | | | | | | | | |
HP:0002514 | HP:0007238 | Nonarteriosclerotic cerebral calcification | 1 | CL E G H | | | | | | | | | | |
HP:0002514 | HP:0007045 | Midline brain calcifications | 1 | CL E G H | | | | | | | | | | |
HP:0002514 | HP:0006906 | Congenital intracerebral calcification | 1 | CL E G H | | | | | | | | | | |
HP:0002514 | HP:0005849 | Diffuse cerebral calcification | 1 | CL E G H | | | | | | | | | | |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | ABCC6 CL E G H | 368 | 57 | OMIM:177850 | Pseudoxanthoma elasticum, forme fruste | . | | | 415 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | HP:0040284 - Very rare | | | 49 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | CA2 CL E G H | 760 | 1373 | ORPHA:2785 | Osteopetrosis with renal tubular acidosis | | | | 29 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | CA2 CL E G H | 760 | 1373 | OMIM:259730 | Osteopetrosis, autosomal recessive 3 | . | | | 29 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | CASR CL E G H | 846 | 1514 | OMIM:601198 | Hypocalcemia, autosomal dominant 1 | | | | 272 | | |
HP:0002514 | HP:0100250 | Meningeal calcification | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040283 - Occasional | | | 101 | | |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | CPT2 CL E G H | 1376 | 2330 | OMIM:608836 | Carnitine palmitoyltransferase II deficiency, lethal neonatal | . | | | 101 | | |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | CTSC CL E G H | 1075 | 2528 | OMIM:245000 | Papillon-Lefevre syndrome | . | | | 50 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | CYP2U1 CL E G H | 113612 | 20582 | OMIM:615030 | Spastic paraplegia 56, autosomal recessive | HP:0040283 - Occasional | | | 18 | | |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | DDR2 CL E G H | 4921 | 2731 | OMIM:271665 | Spondylometaepiphyseal dysplasia, short Limb-Hand type | . | | | 45 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | DNM1L CL E G H | 10059 | 2973 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 94 | | |
HP:0002514 | HP:0034293 | Temporal lobe calcification | 1 | ECM1 CL E G H | 1893 | 3153 | OMIM:247100 | Urbach-Wiethe disease | | | | 14 | | |
HP:0002514 | HP:0005671 | Bilateral intracerebral calcifications | 1 | ECM1 CL E G H | 1893 | 3153 | OMIM:247100 | Urbach-Wiethe disease | . | | | 14 | | |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ERCC1 CL E G H | 2067 | 3433 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040281 - Very frequent | | | 20 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ERCC3 CL E G H | 2071 | 3435 | OMIM:610651 | Xeroderma pigmentosum, complementation group B | . | | | 54 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 158 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:214150 | Cerebrooculofacioskeletal syndrome 1 | | | | 199 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 199 | | |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040281 - Very frequent | | | 199 | | |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040281 - Very frequent | | | 199 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ERCC6 CL E G H | 2074 | 3438 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040281 - Very frequent | | | 199 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:278800 | De Sanctis-Cacchione syndrome | | | | 199 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90321 | Cockayne syndrome type 1 | HP:0040281 - Very frequent | | | 55 | | |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90322 | Cockayne syndrome type 2 | HP:0040281 - Very frequent | | | 55 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040281 - Very frequent | | | 55 | | |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | ERCC8 CL E G H | 1161 | 3439 | ORPHA:90324 | Cockayne syndrome type 3 | HP:0040281 - Very frequent | | | 55 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | FAM111A CL E G H | 63901 | 24725 | OMIM:127000 | Kenny-caffey syndrome, type 2 | . | | | 8 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | GATA3 CL E G H | 2625 | 4172 | OMIM:146255 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia | | | | 83 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | GJA1 CL E G H | 2697 | 4274 | OMIM:164200 | Oculodentodigital dysplasia | . | | | 68 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | GNA11 CL E G H | 2767 | 4379 | OMIM:615361 | Hypocalcemia, autosomal dominant 2 | HP:0040283 - Occasional | | | 16 | | |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | . | | | 101 | | |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | . | | | 101 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | . | | | 101 | | |
HP:0002514 | HP:0006960 | Choroid plexus calcification | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:612462 | Pseudohypoparathyroidism, type IC | . | | | 101 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | . | | | 28 | | |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | IFIH1 CL E G H | 64135 | 18873 | OMIM:615846 | Aicardi-Goutieres syndrome 7 | | | | 28 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ISG15 CL E G H | 9636 | 4053 | OMIM:616126 | Immunodeficiency 38 with basal ganglia calcification | | | | 4 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | JAM2 CL E G H | 58494 | 14686 | OMIM:618824 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE; IBGC8 | | | | | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | LSM11 CL E G H | 134353 | 30860 | OMIM:619486 | AICARDI-GOUTIERES SYNDROME 8; AGS8 | | | | | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | MYORG CL E G H | 57462 | 19918 | OMIM:618317 | Basal ganglia calcification, idiopathic, 7, autosomal recessive | | | | | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | OPA1 CL E G H | 4976 | 8140 | ORPHA:98673 | Autosomal dominant optic atrophy, classic form | HP:0040284 - Very rare | | | 214 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PDGFB CL E G H | 5155 | 8800 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 9 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PDGFB CL E G H | 5155 | 8800 | OMIM:615483 | Basal ganglia calcification, idiopathic, 5 | . | | | 9 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PDGFRB CL E G H | 5159 | 8804 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 28 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PDGFRB CL E G H | 5159 | 8804 | OMIM:615007 | Basal ganglia calcification, idiopathic, 4 | . | | | 28 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | PSMG2 CL E G H | 56984 | 24929 | OMIM:619183 | PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4 | | | | | | |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | PTCH1 CL E G H | 5727 | 9585 | OMIM:109400 | Basal cell nevus syndrome | | | | 665 | | |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | HP:0040281 - Very frequent | | | 665 | | |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | PTCH2 CL E G H | 8643 | 9586 | OMIM:109400 | Basal cell nevus syndrome | | | | 40 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | RNASEH2B CL E G H | 79621 | 25671 | OMIM:610181 | Aicardi-Goutieres syndrome 2 | | | | 34 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | RNU7-1 CL E G H | 100147744 | 34033 | OMIM:619487 | AICARDI-GOUTIERES SYNDROME 9; AGS9 | | | | | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | SAMHD1 CL E G H | 25939 | 15925 | OMIM:612952 | Aicardi-Goutieres syndrome 5 | . | | | 55 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | SLC20A2 CL E G H | 6575 | 10947 | OMIM:213600 | Basal ganglia calcification, idiopathic, 1 | . | | | 70 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:616505 | Neuropathy, hereditary motor and sensory, type VIB | | | | 14 | | |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | SLC2A1 CL E G H | 6513 | 11005 | ORPHA:168577 | Hereditary cryohydrocytosis with reduced stomatin | HP:0040283 - Occasional | | | 255 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | SLC46A1 CL E G H | 113235 | 30521 | OMIM:229050 | Folate malabsorption, hereditary | . | | | 101 | | |
HP:0002514 | HP:0007346 | Subcortical white matter calcifications | 1 | SNORD118 CL E G H | 727676 | 32952 | ORPHA:542310 | Leukoencephalopathy with calcifications and cysts | | | | 6 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | SNORD118 CL E G H | 727676 | 32952 | ORPHA:542310 | Leukoencephalopathy with calcifications and cysts | | | | 6 | | |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | SNORD118 CL E G H | 727676 | 32952 | ORPHA:542310 | Leukoencephalopathy with calcifications and cysts | | | | 6 | | |
HP:0002514 | HP:0005462 | Calcification of falx cerebri | 1 | SUFU CL E G H | 51684 | 16466 | OMIM:109400 | Basal cell nevus syndrome | | | | 124 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TREM2 CL E G H | 54209 | 17761 | OMIM:618193 | POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2; PLOSL2 | | | | 31 | | |
HP:0002514 | HP:0007229 | Intracerebral periventricular calcifications | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TREX1 CL E G H | 11277 | 12269 | OMIM:225750 | Aicardi-Goutieres syndrome 1 | | | | 56 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040282 - Frequent | | | | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | TYROBP CL E G H | 7305 | 12449 | OMIM:221770 | Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy | . | | | 22 | | |
HP:0002514 | HP:0002135 | Basal ganglia calcification | 1 | XPR1 CL E G H | 9213 | 12827 | OMIM:616413 | Basal ganglia calcification, idiopathic, 6 | | | | 4 | | |