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:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | | | | 192 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | | | | 36 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | BGN CL E G H | 633 | 1044 | OMIM:300106 | Spondyloepimetaphyseal dysplasia, X-linked | | | | 7 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | | | | 78 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | BMPER CL E G H | 168667 | 24154 | ORPHA:66637 | Diaphanospondylodysostosis | | | | 78 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | COL11A2 CL E G H | 1302 | 2187 | ORPHA:1427 | Otospondylomegaepiphyseal dysplasia | HP:0040281 - Very frequent | | | 222 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | DYM CL E G H | 54808 | 21317 | ORPHA:239 | Dyggve-Melchior-Clausen disease | HP:0040282 - Frequent | | | 65 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | | | | 199 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | | | | 55 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | EXT1 CL E G H | 2131 | 3512 | OMIM:133700 | Exostoses, multiple, type I | | | | 96 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | EXT1 CL E G H | 2131 | 3512 | ORPHA:321 | Multiple osteochondromas | HP:0040284 - Very rare | | | 96 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | EXT2 CL E G H | 2132 | 3513 | OMIM:133701 | Exostoses, multiple, type II | | | | 102 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | EXT2 CL E G H | 2132 | 3513 | ORPHA:321 | Multiple osteochondromas | HP:0040284 - Very rare | | | 102 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | FGFR2 CL E G H | 2263 | 3689 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | | | | 175 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | FIG4 CL E G H | 9896 | 16873 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 111 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | | | | 115 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | LEMD3 CL E G H | 23592 | 28887 | ORPHA:166119 | Isolated osteopoikilosis | | | | 68 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | MBTPS2 CL E G H | 51360 | 15455 | ORPHA:2273 | Ichthyosis follicularis-alopecia-photophobia syndrome | HP:0040283 - Occasional | | | 22 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | | | | 531 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | | | | 531 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | POR CL E G H | 5447 | 9208 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | | | | 76 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | | | | 76 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | | | | 58 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | PTH1R CL E G H | 5745 | 9608 | ORPHA:79106 | Eiken syndrome | | | | 58 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | | | | 2 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | | | | 2 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:166272 | Odontochondrodysplasia | | | | 133 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | | | | 214 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | | | | 214 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |
HP:0040163 | HP:0040163 | Abnormal pelvis bone morphology | 0 | VAC14 CL E G H | 55697 | 25507 | ORPHA:3472 | Yunis-Varon syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0040163 | HP:0041233 | Fractured ilium | 1 | CL E G H | | | | | | | | | | |
HP:0040163 | HP:0010779 | Large pelvis bone | 1 | CL E G H | | | | | | | | | | |
HP:0040163 | HP:0010453 | Pelvic bone asymmetry | 1 | CL E G H | | | | | | | | | | |
HP:0040163 | HP:0003276 | Pelvic bone exostoses | 1 | ATP7A CL E G H | 538 | 869 | OMIM:304150 | Occipital horn syndrome | . | | | 192 | | |
HP:0040163 | HP:0003278 | Square pelvis bone | 1 | B3GLCT CL E G H | 145173 | 20207 | OMIM:261540 | Peters-Plus syndrome | . | | | 36 | | |
HP:0040163 | HP:0003275 | Narrow pelvis bone | 1 | BGN CL E G H | 633 | 1044 | OMIM:300106 | Spondyloepimetaphyseal dysplasia, X-linked | . | | | 7 | | |
HP:0040163 | HP:0003275 | Narrow pelvis bone | 1 | BMPER CL E G H | 168667 | 24154 | ORPHA:66637 | Diaphanospondylodysostosis | HP:0040281 - Very frequent | | | 78 | | |
HP:0040163 | HP:0003275 | Narrow pelvis bone | 1 | BMPER CL E G H | 168667 | 24154 | OMIM:608022 | DIAPHANOSPONDYLODYSOSTOSIS | . | | | 78 | | |
HP:0040163 | HP:0003278 | Square pelvis bone | 1 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0040163 | HP:0003278 | Square pelvis bone | 1 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0040163 | HP:0003276 | Pelvic bone exostoses | 1 | EXT1 CL E G H | 2131 | 3512 | OMIM:133700 | Exostoses, multiple, type I | . | | | 96 | | |
HP:0040163 | HP:0003276 | Pelvic bone exostoses | 1 | EXT2 CL E G H | 2132 | 3513 | OMIM:133701 | Exostoses, multiple, type II | . | | | 102 | | |
HP:0040163 | HP:0003275 | Narrow pelvis bone | 1 | FGFR2 CL E G H | 2263 | 3689 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | . | | | 175 | | |
HP:0040163 | HP:0003275 | Narrow pelvis bone | 1 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0040163 | HP:0003275 | Narrow pelvis bone | 1 | PCNT CL E G H | 5116 | 16068 | ORPHA:2637 | Microcephalic osteodysplastic primordial dwarfism type II | HP:0040281 - Very frequent | | | 531 | | |
HP:0040163 | HP:0003275 | Narrow pelvis bone | 1 | PCNT CL E G H | 5116 | 16068 | OMIM:210720 | Microcephalic osteodysplastic primordial dwarfism, type II | . | | | 531 | | |
HP:0040163 | HP:0003275 | Narrow pelvis bone | 1 | POR CL E G H | 5447 | 9208 | OMIM:207410 | Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis | . | | | 76 | | |
HP:0040163 | HP:0003275 | Narrow pelvis bone | 1 | POR CL E G H | 5447 | 9208 | ORPHA:95699 | Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency | HP:0040283 - Occasional | | | 76 | | |
HP:0040163 | HP:0003275 | Narrow pelvis bone | 1 | PTH1R CL E G H | 5745 | 9608 | OMIM:600002 | Eiken syndrome | . | | | 58 | | |
HP:0040163 | HP:0003275 | Narrow pelvis bone | 1 | PTH1R CL E G H | 5745 | 9608 | ORPHA:79106 | Eiken syndrome | HP:0040282 - Frequent | | | 58 | | |
HP:0040163 | HP:0003275 | Narrow pelvis bone | 1 | RSPRY1 CL E G H | 89970 | 29420 | ORPHA:457395 | Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0040163 | HP:0003275 | Narrow pelvis bone | 1 | RSPRY1 CL E G H | 89970 | 29420 | OMIM:616723 | Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type | . | | | 2 | | |
HP:0040163 | HP:0003278 | Square pelvis bone | 1 | TRIP11 CL E G H | 9321 | 12305 | ORPHA:166272 | Odontochondrodysplasia | HP:0040282 - Frequent | | | 133 | | |
HP:0040163 | HP:0002826 | Halberd-shaped pelvis | 1 | TRPV4 CL E G H | 59341 | 18083 | ORPHA:2635 | Metatropic dysplasia | HP:0040281 - Very frequent | | | 214 | | |
HP:0040163 | HP:0002826 | Halberd-shaped pelvis | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:156530 | Metatropic dysplasia | . | | | 214 | | |
HP:0040163 | HP:0002826 | Halberd-shaped pelvis | 1 | TRPV4 CL E G H | 59341 | 18083 | OMIM:184252 | Spondylometaphyseal dysplasia, Kozlowski type | | | | 214 | | |