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:0000829 | HP:0000829 | Hypoparathyroidism | 0 | AIRE CL E G H | 326 | 360 | OMIM:240300 | AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1 | | | | 92 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | HP:0040281 - Very frequent | | | 92 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | ATP7B CL E G H | 540 | 870 | OMIM:277900 | Wilson disease | . | | | 315 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | CHD7 CL E G H | 55636 | 20626 | OMIM:214800 | Charge syndrome | | | | 515 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | COL4A5 CL E G H | 1287 | 2207 | OMIM:301050 | Alport syndrome, X-linked | . | | | 678 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | COX2 CL E G H | 4513 | 7421 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | | | | 8 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | FAM111A CL E G H | 63901 | 24725 | OMIM:127000 | Kenny-caffey syndrome, type 2 | . | | | 8 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | GATA3 CL E G H | 2625 | 4172 | OMIM:146255 | Hypoparathyroidism, sensorineural deafness, and renal dysplasia | | | | 83 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | GATA3 CL E G H | 2625 | 4172 | ORPHA:2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | HP:0040280 - Obligate | | | 83 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | GCM2 CL E G H | 9247 | 4198 | ORPHA:2239 | Familial isolated hypoparathyroidism due to agenesis of parathyroid gland | | | | 51 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040283 - Occasional | | | 99 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | HADHB CL E G H | 3032 | 4803 | ORPHA:746 | Mitochondrial trifunctional protein deficiency | HP:0040283 - Occasional | | | 60 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231222 | Beta-thalassemia intermedia | HP:0040284 - Very rare | | | 580 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231214 | Beta-thalassemia major | HP:0040283 - Occasional | | | 580 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:231226 | Dominant beta-thalassemia | HP:0040283 - Occasional | | | 580 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | IRX5 CL E G H | 10265 | 14361 | OMIM:611174 | Hamamy syndrome | . | | | 4 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | LIG4 CL E G H | 3981 | 6601 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | NKX2-1 CL E G H | 7080 | 11825 | ORPHA:209905 | Brain-lung-thyroid syndrome | HP:0040284 - Very rare | | | 51 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | NSUN2 CL E G H | 54888 | 25994 | ORPHA:235 | Dubowitz syndrome | HP:0040283 - Occasional | | | 84 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | PIGT CL E G H | 51604 | 14938 | ORPHA:369837 | Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome | HP:0040283 - Occasional | | | 12 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | PTH CL E G H | 5741 | 9606 | OMIM:146200 | Hypoparathyroidism, familial isolated | | | | 16 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:156400 | Metaphyseal chondrodysplasia, Jansen type | . | | | 58 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:93324 | Autosomal recessive Kenny-Caffey syndrome | | | | 52 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | | | | 52 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:244460 | Kenny-caffey syndrome, type 1 | | | | 52 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:2323 | Sanjad-Sakati syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | 32 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | | | | 32 | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | TBX2 CL E G H | 6909 | 11597 | OMIM:618223 | VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION | . | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | TRNF CL E G H | 4558 | 7481 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | TRNH CL E G H | 4564 | 7487 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | TRNQ CL E G H | 4572 | 7495 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | TRNS1 CL E G H | 4574 | 7497 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | TRNS2 CL E G H | 4575 | 7498 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | TRNW CL E G H | 4578 | 7501 | ORPHA:550 | MELAS | HP:0040284 - Very rare | | | | | |
HP:0000829 | HP:0000829 | Hypoparathyroidism | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040282 - Frequent | | | | | |
HP:0000829 | HP:0011771 | Autoimmune hypoparathyroidism | 1 | CL E G H | | | | | | | | | | |
HP:0000829 | HP:0008198 | Congenital hypoparathyroidism | 1 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0000829 | HP:0008198 | Congenital hypoparathyroidism | 1 | GCM2 CL E G H | 9247 | 4198 | ORPHA:2239 | Familial isolated hypoparathyroidism due to agenesis of parathyroid gland | HP:0040280 - Obligate | | | 51 | | |
HP:0000829 | HP:0008198 | Congenital hypoparathyroidism | 1 | TBCE CL E G H | 6905 | 11582 | ORPHA:93324 | Autosomal recessive Kenny-Caffey syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0000829 | HP:0008198 | Congenital hypoparathyroidism | 1 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | . | | | 52 | | |
HP:0000829 | HP:0008198 | Congenital hypoparathyroidism | 1 | TBCE CL E G H | 6905 | 11582 | OMIM:244460 | Kenny-caffey syndrome, type 1 | . | | | 52 | | |
HP:0000829 | HP:0008198 | Congenital hypoparathyroidism | 1 | TBCE CL E G H | 6905 | 11582 | ORPHA:2323 | Sanjad-Sakati syndrome | HP:0040281 - Very frequent | | | 52 | | |