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:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | | | | 60 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | | | | | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:668 | Osteosarcoma | | | | 833 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | | | | 79 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | COL10A1 CL E G H | 1300 | 2185 | ORPHA:174 | Metaphyseal chondrodysplasia, Schmid type | | | | 79 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | COMP CL E G H | 1311 | 2227 | OMIM:177170 | Pseudoachondroplasia | | | | 89 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 5 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | FGFR3 CL E G H | 2261 | 3690 | OMIM:610474 | Camptodactyly, tall stature, and hearing loss syndrome | | | | 145 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | PHEX CL E G H | 5251 | 8918 | ORPHA:89936 | X-linked hypophosphatemia | HP:0040281 - Very frequent | | | 217 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | | | | 88 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | RB1 CL E G H | 5925 | 9884 | ORPHA:668 | Osteosarcoma | | | | 365 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 26 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | TP53 CL E G H | 7157 | 11998 | ORPHA:668 | Osteosarcoma | | | | 911 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | | | | 133 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:113500 | Brachyolmia type 3 | | | | 214 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0006490 | HP:0006490 | Abnormal lower-limb metaphysis morphology | 0 | UFSP2 CL E G H | 55325 | 25640 | OMIM:142669 | Hip dysplasia, Beukes type | | | | 2 | | |
HP:0006490 | HP:0006491 | Abnormal tibial metaphysis morphology | 1 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | | | | 60 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | | | | | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:668 | Osteosarcoma | HP:0040281 - Very frequent | | | 833 | | |
HP:0006490 | HP:0006491 | Abnormal tibial metaphysis morphology | 1 | CHEK2 CL E G H | 11200 | 16627 | ORPHA:668 | Osteosarcoma | HP:0040282 - Frequent | | | 833 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | COL10A1 CL E G H | 1300 | 2185 | ORPHA:174 | Metaphyseal chondrodysplasia, Schmid type | | | | 79 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | | | | 79 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | | | | 222 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | COMP CL E G H | 1311 | 2227 | OMIM:177170 | Pseudoachondroplasia | | | | 89 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 5 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | FGFR3 CL E G H | 2261 | 3690 | OMIM:610474 | Camptodactyly, tall stature, and hearing loss syndrome | | | | 145 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | RASA1 CL E G H | 5921 | 9871 | ORPHA:90307 | Parkes Weber syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0006490 | HP:0006491 | Abnormal tibial metaphysis morphology | 1 | RB1 CL E G H | 5925 | 9884 | ORPHA:668 | Osteosarcoma | HP:0040282 - Frequent | | | 365 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | RB1 CL E G H | 5925 | 9884 | ORPHA:668 | Osteosarcoma | HP:0040281 - Very frequent | | | 365 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 26 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | | | |
HP:0006490 | HP:0006491 | Abnormal tibial metaphysis morphology | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:668 | Osteosarcoma | HP:0040282 - Frequent | | | 911 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | TP53 CL E G H | 7157 | 11998 | ORPHA:668 | Osteosarcoma | HP:0040281 - Very frequent | | | 911 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | TRIP11 CL E G H | 9321 | 12305 | OMIM:200600 | Achondrogenesis, type IA | . | | | 133 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:113500 | Brachyolmia type 3 | | | | 214 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0006490 | HP:0006489 | Abnormal femoral metaphysis morphology | 1 | UFSP2 CL E G H | 55325 | 25640 | OMIM:142669 | Hip dysplasia, Beukes type | | | | 2 | | |
HP:0006490 | HP:0041114 | Fractured metaphysis of femur | 2 | CL E G H | | | | | | | | | | |
HP:0006490 | HP:0006413 | Broad tibial metaphyses | 2 | CL E G H | | | | | | | | | | |
HP:0006490 | HP:0006423 | Peg-like central prominence of distal tibial metaphyses | 2 | AIFM1 CL E G H | 9131 | 8768 | OMIM:300232 | Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration | . | | | 60 | | |
HP:0006490 | HP:0006431 | Proximal femoral metaphyseal abnormality | 2 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | | | | | | |
HP:0006490 | HP:0006431 | Proximal femoral metaphyseal abnormality | 2 | COL10A1 CL E G H | 1300 | 2185 | ORPHA:174 | Metaphyseal chondrodysplasia, Schmid type | HP:0040281 - Very frequent | | | 79 | | |
HP:0006490 | HP:0030299 | Distal femoral metaphyseal abnormality | 2 | COL10A1 CL E G H | 1300 | 2185 | ORPHA:174 | Metaphyseal chondrodysplasia, Schmid type | HP:0040281 - Very frequent | | | 79 | | |
HP:0006490 | HP:0006431 | Proximal femoral metaphyseal abnormality | 2 | COL10A1 CL E G H | 1300 | 2185 | OMIM:156500 | Metaphyseal chondrodysplasia, Schmid type | . | | | 79 | | |
HP:0006490 | HP:0002834 | Flared femoral metaphysis | 2 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | HP:0040283 - Occasional | | | 222 | | |
HP:0006490 | HP:0002834 | Flared femoral metaphysis | 2 | COMP CL E G H | 1311 | 2227 | OMIM:177170 | Pseudoachondroplasia | | | | 89 | | |
HP:0006490 | HP:0006431 | Proximal femoral metaphyseal abnormality | 2 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0006490 | HP:0006431 | Proximal femoral metaphyseal abnormality | 2 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 5 | | |
HP:0006490 | HP:0002834 | Flared femoral metaphysis | 2 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | . | | | 81 | | |
HP:0006490 | HP:0030299 | Distal femoral metaphyseal abnormality | 2 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0006490 | HP:0006417 | Broad femoral metaphyses | 2 | FGFR3 CL E G H | 2261 | 3690 | OMIM:610474 | Camptodactyly, tall stature, and hearing loss syndrome | . | | | 145 | | |
HP:0006490 | HP:0006431 | Proximal femoral metaphyseal abnormality | 2 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0006490 | HP:0006431 | Proximal femoral metaphyseal abnormality | 2 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 26 | | |
HP:0006490 | HP:0030299 | Distal femoral metaphyseal abnormality | 2 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | | | | 143 | | |
HP:0006490 | HP:0006431 | Proximal femoral metaphyseal abnormality | 2 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | | | |
HP:0006490 | HP:0006431 | Proximal femoral metaphyseal abnormality | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:113500 | Brachyolmia type 3 | | | | 214 | | |
HP:0006490 | HP:0002834 | Flared femoral metaphysis | 2 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | . | | | 214 | | |
HP:0006490 | HP:0006417 | Broad femoral metaphyses | 2 | UFSP2 CL E G H | 55325 | 25640 | OMIM:142669 | Hip dysplasia, Beukes type | | | | 2 | | |
HP:0006490 | HP:0006431 | Proximal femoral metaphyseal abnormality | 2 | UFSP2 CL E G H | 55325 | 25640 | OMIM:142669 | Hip dysplasia, Beukes type | | | | 2 | | |
HP:0006490 | HP:0003411 | Proximal femoral metaphyseal irregularity | 3 | CFAP410 CL E G H | 755 | 1260 | OMIM:602271 | Spondylometaphyseal dysplasia, axial | . | | | | | |
HP:0006490 | HP:0003411 | Proximal femoral metaphyseal irregularity | 3 | COL10A1 CL E G H | 1300 | 2185 | ORPHA:174 | Metaphyseal chondrodysplasia, Schmid type | HP:0040282 - Frequent | | | 79 | | |
HP:0006490 | HP:0003411 | Proximal femoral metaphyseal irregularity | 3 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0006490 | HP:0003411 | Proximal femoral metaphyseal irregularity | 3 | DNAJC21 CL E G H | 134218 | 27030 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 5 | | |
HP:0006490 | HP:0006387 | Wide distal femoral metaphysis | 3 | EZH2 CL E G H | 2146 | 3527 | OMIM:277590 | Weaver syndrome | | | | 81 | | |
HP:0006490 | HP:0003411 | Proximal femoral metaphyseal irregularity | 3 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0006490 | HP:0003411 | Proximal femoral metaphyseal irregularity | 3 | SBDS CL E G H | 51119 | 19440 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | 26 | | |
HP:0006490 | HP:0006387 | Wide distal femoral metaphysis | 3 | SETBP1 CL E G H | 26040 | 15573 | OMIM:269150 | Schinzel-Giedion midface-retraction syndrome | . | | | 143 | | |
HP:0006490 | HP:0003411 | Proximal femoral metaphyseal irregularity | 3 | SRP54 CL E G H | 6729 | 11301 | OMIM:260400 | Shwachman-Diamond syndrome 1 | | | | | | |
HP:0006490 | HP:0003411 | Proximal femoral metaphyseal irregularity | 3 | TRPV4 CL E G H | 59341 | 18083 | OMIM:113500 | Brachyolmia type 3 | . | | | 214 | | |
HP:0006490 | HP:0008783 | Wide proximal femoral metaphysis | 3 | UFSP2 CL E G H | 55325 | 25640 | OMIM:142669 | Hip dysplasia, Beukes type | . | | | 2 | | |