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:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | | | | 34 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | | | | 160 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | | | | 65 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | | | | 27 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | | | | 17 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | | | | 138 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | | | | 12 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | | | | 26 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | PLCB3 CL E G H | 5331 | 9056 | OMIM:618961 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD | | | | | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | | | | 20 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | | | | 77 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:1782 | Dysosteosclerosis | | | | 68 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:1782 | Dysosteosclerosis | | | | 82 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | | | | 48 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | | | | 238 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | | | | 60 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:1782 | Dysosteosclerosis | | | | 72 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:2801 | Juvenile Paget disease | | | | 72 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | TNFRSF11B CL E G H | 4982 | 11909 | ORPHA:2801 | Juvenile Paget disease | | | | 44 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | | | | 214 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | | | | 1 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | | | | 8 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | VDR CL E G H | 7421 | 12679 | ORPHA:93160 | Hypocalcemic vitamin D-resistant rickets | | | | 104 | | |
HP:0005089 | HP:0005089 | Abnormal metaphyseal trabeculation | 0 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | | | | 40 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | AMER1 CL E G H | 139285 | 26837 | ORPHA:2780 | Osteopathia striata-cranial sclerosis syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | CTC1 CL E G H | 80169 | 26169 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 160 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | DKC1 CL E G H | 1736 | 2890 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 65 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | NHP2 CL E G H | 55651 | 14377 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 27 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | NOP10 CL E G H | 55505 | 14378 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 17 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | NOTCH2 CL E G H | 4853 | 7882 | ORPHA:955 | Hajdu-Cheney syndrome | HP:0040283 - Occasional | | | 138 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | NPM1 CL E G H | 4869 | 7910 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 12 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | PARN CL E G H | 5073 | 8609 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 26 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | PLCB3 CL E G H | 5331 | 9056 | OMIM:618961 | SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD | | | | | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | PORCN CL E G H | 64840 | 17652 | ORPHA:2092 | Focal dermal hypoplasia | HP:0040281 - Very frequent | | | 20 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | RTEL1 CL E G H | 51750 | 15888 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 77 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 68 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | TCIRG1 CL E G H | 10312 | 11647 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 82 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | TERC CL E G H | 7012 | 11727 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 48 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | TERT CL E G H | 7015 | 11730 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 238 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | TINF2 CL E G H | 26277 | 11824 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 60 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:1782 | Dysosteosclerosis | HP:0040281 - Very frequent | | | 72 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | TNFRSF11A CL E G H | 8792 | 11908 | ORPHA:2801 | Juvenile Paget disease | HP:0040281 - Very frequent | | | 72 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | TNFRSF11B CL E G H | 4982 | 11909 | ORPHA:2801 | Juvenile Paget disease | HP:0040281 - Very frequent | | | 44 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | HP:0040281 - Very frequent | | | 214 | | |
HP:0005089 | HP:0003332 | Absent primary metaphyseal spongiosa | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | . | | | 214 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | TYMS CL E G H | 7298 | 12441 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 1 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | USB1 CL E G H | 79650 | 25792 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 8 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | VDR CL E G H | 7421 | 12679 | ORPHA:93160 | Hypocalcemic vitamin D-resistant rickets | HP:0040281 - Very frequent | | | 104 | | |
HP:0005089 | HP:0100670 | Coarse metaphyseal trabecularization | 1 | WRAP53 CL E G H | 55135 | 25522 | ORPHA:1775 | Dyskeratosis congenita | HP:0040282 - Frequent | | | 40 | | |