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:0002199 | HP:0002199 | Hypocalcemic seizures | 0 | CYP27B1 CL E G H | 1594 | 2606 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040283 - Occasional | | | 41 | | |
HP:0002199 | HP:0002199 | Hypocalcemic seizures | 0 | CYP27B1 CL E G H | 1594 | 2606 | OMIM:264700 | Vitamin D hydroxylation-deficient rickets, type 1A | . | | | 41 | | |
HP:0002199 | HP:0002199 | Hypocalcemic seizures | 0 | CYP2R1 CL E G H | 120227 | 20580 | ORPHA:289157 | Hypocalcemic vitamin D-dependent rickets | HP:0040283 - Occasional | | | 5 | | |
HP:0002199 | HP:0002199 | Hypocalcemic seizures | 0 | FAM111A CL E G H | 63901 | 24725 | ORPHA:93325 | Autosomal dominant Kenny-Caffey syndrome | HP:0040282 - Frequent | | | 8 | | |
HP:0002199 | HP:0002199 | Hypocalcemic seizures | 0 | GATA3 CL E G H | 2625 | 4172 | ORPHA:2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | HP:0040282 - Frequent | | | 83 | | |
HP:0002199 | HP:0002199 | Hypocalcemic seizures | 0 | GCM2 CL E G H | 9247 | 4198 | ORPHA:2239 | Familial isolated hypoparathyroidism due to agenesis of parathyroid gland | HP:0040281 - Very frequent | | | 51 | | |
HP:0002199 | HP:0002199 | Hypocalcemic seizures | 0 | GCM2 CL E G H | 9247 | 4198 | OMIM:618883 | HYPOPARATHYROIDISM, FAMILIAL ISOLATED, 2; FIH2 | | | | 51 | | |
HP:0002199 | HP:0002199 | Hypocalcemic seizures | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040284 - Very rare | | | 101 | | |
HP:0002199 | HP:0002199 | Hypocalcemic seizures | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040284 - Very rare | | | 101 | | |
HP:0002199 | HP:0002199 | Hypocalcemic seizures | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040284 - Very rare | | | 101 | | |
HP:0002199 | HP:0002199 | Hypocalcemic seizures | 0 | PTH CL E G H | 5741 | 9606 | OMIM:146200 | Hypoparathyroidism, familial isolated | | | | 16 | | |
HP:0002199 | HP:0002199 | Hypocalcemic seizures | 0 | STX16 CL E G H | 8675 | 11431 | ORPHA:94089 | Pseudohypoparathyroidism type 1B | HP:0040284 - Very rare | | | 86 | | |
HP:0002199 | HP:0002199 | Hypocalcemic seizures | 0 | TBCE CL E G H | 6905 | 11582 | ORPHA:93324 | Autosomal recessive Kenny-Caffey syndrome | HP:0040281 - Very frequent | | | 52 | | |
HP:0002199 | HP:0002199 | Hypocalcemic seizures | 0 | TBCE CL E G H | 6905 | 11582 | OMIM:241410 | Hypoparathyroidism-Retardation-Dysmorphism syndrome | . | | | 52 | | |
HP:0002199 | HP:0002199 | Hypocalcemic seizures | 0 | TNFRSF11A CL E G H | 8792 | 11908 | OMIM:612301 | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7 | | | | 72 | | |
HP:0002199 | HP:0002199 | Hypocalcemic seizures | 0 | VDR CL E G H | 7421 | 12679 | OMIM:277440 | Vitamin d-dependent rickets, type 2A | . | | | 104 | | |