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:0011986 | HP:0011986 | Ectopic ossification | 0 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | | | | 49 | | |
HP:0011986 | HP:0011986 | Ectopic ossification | 0 | ACVR1 CL E G H | 90 | 171 | ORPHA:337 | Fibrodysplasia ossificans progressiva | | | | 49 | | |
HP:0011986 | HP:0011986 | Ectopic ossification | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:2762 | Progressive osseous heteroplasia | | | | 101 | | |
HP:0011986 | HP:0011986 | Ectopic ossification | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040282 - Frequent | | | 101 | | |
HP:0011986 | HP:0011986 | Ectopic ossification | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79444 | Pseudohypoparathyroidism type 1C | HP:0040282 - Frequent | | | 101 | | |
HP:0011986 | HP:0011986 | Ectopic ossification | 0 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | | | | 101 | | |
HP:0011986 | HP:0011986 | Ectopic ossification | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79445 | Pseudopseudohypoparathyroidism | HP:0040282 - Frequent | | | 101 | | |
HP:0011986 | HP:0011986 | Ectopic ossification | 0 | LBR CL E G H | 3930 | 6518 | OMIM:215140 | Greenberg dysplasia | | | | 70 | | |
HP:0011986 | HP:0011986 | Ectopic ossification | 0 | NT5E CL E G H | 4907 | 8021 | OMIM:211800 | Calcification of joints and arteries | . | | | 3 | | |
HP:0011986 | HP:0003837 | Soft-tissue ossification around the shoulders | 1 | CL E G H | | | | | | | | | | |
HP:0011986 | HP:0011989 | Ectopic ossification in ligament tissue | 1 | ACVR1 CL E G H | 90 | 171 | ORPHA:337 | Fibrodysplasia ossificans progressiva | HP:0040281 - Very frequent | | | 49 | | |
HP:0011986 | HP:0011988 | Ectopic ossification in tendon tissue | 1 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | . | | | 49 | | |
HP:0011986 | HP:0011987 | Ectopic ossification in muscle tissue | 1 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | . | | | 49 | | |
HP:0011986 | HP:0011987 | Ectopic ossification in muscle tissue | 1 | ACVR1 CL E G H | 90 | 171 | ORPHA:337 | Fibrodysplasia ossificans progressiva | HP:0040281 - Very frequent | | | 49 | | |
HP:0011986 | HP:0011989 | Ectopic ossification in ligament tissue | 1 | ACVR1 CL E G H | 90 | 171 | OMIM:135100 | Fibrodysplasia ossificans progressiva | . | | | 49 | | |
HP:0011986 | HP:0011987 | Ectopic ossification in muscle tissue | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:2762 | Progressive osseous heteroplasia | HP:0040282 - Frequent | | | 101 | | |
HP:0011986 | HP:0034282 | Subcutaneous ossification | 1 | GNAS CL E G H | 2778 | 4392 | OMIM:103580 | Pseudohypoparathyroidism, type IA | | | | 101 | | |