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:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040281 - Very frequent | | | 314 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | BRD4 CL E G H | 23476 | 13575 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 8 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | CPLX1 CL E G H | 10815 | 2309 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 1 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | CTBP1 CL E G H | 1487 | 2494 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:35173 | X-linked dominant chondrodysplasia punctata | | | | 51 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | EMG1 CL E G H | 10436 | 16912 | ORPHA:1270 | Bowen-Conradi syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | FGFRL1 CL E G H | 53834 | 3693 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | GATA3 CL E G H | 2625 | 4172 | ORPHA:2237 | Hypoparathyroidism-sensorineural deafness-renal disease syndrome | HP:0040284 - Very rare | | | 83 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | HDAC8 CL E G H | 55869 | 13315 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 37 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | IGF1 CL E G H | 3479 | 5464 | ORPHA:73272 | Growth delay due to insulin-like growth factor type 1 deficiency | HP:0040281 - Very frequent | | | 91 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 65 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040282 - Frequent | | | 229 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 2 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | LHX4 CL E G H | 89884 | 21734 | OMIM:262700 | Pituitary hormone deficiency, combined, 4 | . | | | 43 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | NIN CL E G H | 51199 | 14906 | ORPHA:319675 | Microcephalic primordial dwarfism, Dauber type | HP:0040282 - Frequent | | | 55 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | NIPBL CL E G H | 25836 | 28862 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 494 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | NSD2 CL E G H | 7468 | 12766 | OMIM:194190 | Wolf-Hirschhorn syndrome | | | | 118 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | POU1F1 CL E G H | 5449 | 9210 | OMIM:613038 | Pituitary hormone deficiency, combined, 1 | . | | | 36 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | PPP1R15B CL E G H | 84919 | 14951 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | PRIM1 CL E G H | 5557 | 9369 | OMIM:620005 | | | | | | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 3 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | RAD21 CL E G H | 5885 | 9811 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 25 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | RPL10 CL E G H | 6134 | 10298 | ORPHA:435938 | X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome | HP:0040280 - Obligate | | | 10 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | RYR1 CL E G H | 6261 | 10483 | ORPHA:98905 | Congenital multicore myopathy with external ophthalmoplegia | HP:0040283 - Occasional | | | 1200 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | SHPK CL E G H | 23729 | 1492 | ORPHA:440713 | Isolated sedoheptulokinase deficiency | HP:0040282 - Frequent | | | 2 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | SMC1A CL E G H | 8243 | 11111 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | SMC3 CL E G H | 9126 | 2468 | ORPHA:199 | Cornelia de Lange syndrome | HP:0040282 - Frequent | | | 91 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | TBC1D20 CL E G H | 128637 | 16133 | OMIM:615663 | Warburg micro syndrome 4 | | | | 15 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | TRMT10A CL E G H | 93587 | 28403 | ORPHA:391408 | Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | TSHB CL E G H | 7252 | 12372 | OMIM:275100 | Hypothyroidism, congenital, nongoitrous, 4 | . | | | 9 | | |
HP:0008850 | HP:0008850 | Severe postnatal growth retardation | 0 | WFS1 CL E G H | 7466 | 12762 | ORPHA:411590 | Wolfram-like syndrome | HP:0040283 - Occasional | | | 389 | | |