Human Phenotype Ontology 
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Clinical modifier (HP:0012823)help
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Phenotypic variability (HP:0003812)help
Term ID: 3812
Name: Phenotypic variability
Synonym: Clinical heterogeneity; Highly variable clinical phenotype; Highly variable phenotype; Highly variable phenotype and severity; Highly variable phenotype, even within families; Variable phenotype; Variable phenotypic severity
Definition: A variability of phenotypic features.
Comments:
Reference: HP:0003812
Genes and Diseases:
 
       Child Nodes:
........expandVariable expressivity (HP:0003828) help
........expandIncomplete penetrance (HP:0003829) help
................... HP:0003831 Age-dependent penetrance

 Sister Nodes: 
..expandAggravated by (HP:0025285) help
..expandAmeliorated by (HP:0025254) help
..expandPain characteristic (HP:0025280) help
..expandPosition (HP:0012830) help
..expandRefractory (HP:0031375) help
..expandSeverity (HP:0012824) help
..expandTriggered by (HP:0025204) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0003812HP:0003812Phenotypic variability0DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM17032770125660
HP:0003812HP:0003812Phenotypic variability0DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM16292770125660
HP:0003812HP:0003812Phenotypic variability0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM118727030617048
HP:0003812HP:0003812Phenotypic variability0DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM19127030617048
HP:0003812HP:0003812Phenotypic variability0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM13164588602717
HP:0003812HP:0003812Phenotypic variability0GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM11284588602717
HP:0003812HP:0003812Phenotypic variability0ZIC3 CL E G H7547306955Heterotaxy, visceral, X-linked306955C1844020OMIM127612874300265
HP:0003812HP:0003812Phenotypic variability0ZIC3 CL E G H7547306955Heterotaxy, visceral, X-linked306955C1844020OMIM126912874300265
HP:0003812HP:0003829Incomplete penetrance1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM17032770125660
HP:0003812HP:0003828Variable expressivity1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM17032770125660
HP:0003812HP:0003829Incomplete penetrance1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM16292770125660
HP:0003812HP:0003828Variable expressivity1DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM16292770125660
HP:0003812HP:0003829Incomplete penetrance1DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM118727030617048
HP:0003812HP:0003828Variable expressivity1DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM118727030617048
HP:0003812HP:0003829Incomplete penetrance1DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM19127030617048
HP:0003812HP:0003828Variable expressivity1DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM19127030617048
HP:0003812HP:0003829Incomplete penetrance1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM13164588602717
HP:0003812HP:0003828Variable expressivity1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM13164588602717
HP:0003812HP:0003829Incomplete penetrance1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM11284588602717
HP:0003812HP:0003828Variable expressivity1GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM11284588602717
HP:0003812HP:0003828Variable expressivity1ZIC3 CL E G H7547306955Heterotaxy, visceral, X-linked306955C1844020OMIM127612874300265
HP:0003812HP:0003829Incomplete penetrance1ZIC3 CL E G H7547306955Heterotaxy, visceral, X-linked306955C1844020OMIM127612874300265
HP:0003812HP:0003828Variable expressivity1ZIC3 CL E G H7547306955Heterotaxy, visceral, X-linked306955C1844020OMIM126912874300265
HP:0003812HP:0003829Incomplete penetrance1ZIC3 CL E G H7547306955Heterotaxy, visceral, X-linked306955C1844020OMIM126912874300265
HP:0003812HP:0003831Age-dependent penetrance2DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM17032770125660
HP:0003812HP:0003831Age-dependent penetrance2DES CL E G H1674601419Myofibrillar myopathy 1601419C1832370OMIM16292770125660
HP:0003812HP:0003831Age-dependent penetrance2DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM118727030617048
HP:0003812HP:0003831Age-dependent penetrance2DNAJC21 CL E G H134218617052Bone marrow failure syndrome 3617052C4310744OMIM19127030617048
HP:0003812HP:0003831Age-dependent penetrance2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM13164588602717
HP:0003812HP:0003831Age-dependent penetrance2GRIN2D CL E G H2906617162Epileptic encephalopathy, early infantile, 46617162C4310687OMIM11284588602717
HP:0003812HP:0003831Age-dependent penetrance2ZIC3 CL E G H7547306955Heterotaxy, visceral, X-linked306955C1844020OMIM127612874300265
HP:0003812HP:0003831Age-dependent penetrance2ZIC3 CL E G H7547306955Heterotaxy, visceral, X-linked306955C1844020OMIM126912874300265
 
HPO disease - gene - phenotype less frequent non-typical associations:


Genes (394) :AARS ACTA1 ACTN4 ADA2 ADD3 AFG3L2 AGK AGRN ALAS2 ALX4 ANO3 ANO5 ANTXR2 ANXA11 APC ARL6 ASAH1 ATL1 ATP1A2 ATP1A3 ATP6 ATP6AP1 ATP6AP2 ATP6V1A ATXN10 B2M BBS9 BCS1L BICD2 BMPR2 BRPF1 C12ORF65 C19ORF12 CA5A CACNA1A CACNA1S CACNB4 CANT1 CAV1 CD164 CD27 CD3E CD3G CD70 CDON CFAP53 CFC1 CFD CHRNA1 CHRNA2 CHRNA4 CHRNA7 CHRNE CIC CIT CLCN2 CLPX CLTC CNKSR2 COL4A1 COL4A2 COL6A1 COL6A2 COL6A3 COQ8A COX1 COX2 COX3 CPOX CREBBP CRELD1 CSPP1 CTLA4 CTNNB1 CYP2U1 CYTB DAG1 DARS2 DCC DCHS1 DCX DEPDC5 DES DHDDS DHFR DLD DNAJC21 DNM1L DPAGT1 DPM1 DSTYK DZIP1L EBP EGR2 EHHADH EIF2S3 ELOVL4 EP300 EPHB4 ERCC1 ERCC5 EXOSC2 EXOSC3 EYA1 F10 F2 F7 FAM126A FARS2 FBXO11 FBXO38 FGF12 FGF23 FGFR1 FGFR2 FH FIG4 FKRP FKTN FLCN FMR1 FOXP3 GABRB2 GABRG2 GANAB GATA1 GATA5 GCH1 GDF6 GFI1B GFPT1 GJA5 GJA8 GJB1 GJB6 GJC2 GLI2 GLI3 GM2A GMPPB GNAS GP6 GPAA1 GREB1L GRHPR GRIA4 GRIN2A GRIN2B GRIN2D GTPBP2 GTPBP3 GUCY1A1 GUCY2D GYG1 HARS HDAC8 HGSNAT HNRNPDL HSD11B2 IARS IBA57 IFIH1 IKZF1 JAG1 KANSL1 KCNA1 KCNK3 KCNMA1 KCNQ5 KIF11 KIF1A KIF5C KLF13 KLHL41 KMT2B KRIT1 KRT14 KRT5 KRT81 KRT83 KRT86 LAMA1 LAMA2 LAMB1 LGI1 LMNA LRP5 LRSAM1 MAPKBP1 MARS MATR3 MBTPS2 MCM2 MECR MED13L MEGF10 MET METTL23 MFN2 MICAL1 MITF MN1 MNX1 MPC1 MPDZ MPZ MRE11 MRPL44 MRPS7 MSH6 MYH2 MYH7 MYOT NAA10 ND1 ND2 ND4 ND4L ND5 ND6 NDUFA1 NDUFAF1 NDUFAF6 NDUFS8 NEFH NEFL NEXMIF NF2 NFKB1 NFKB2 NIPA1 NLRP12 NLRP3 NME1 NPHS2 NPRL2 NPRL3 NR5A1 NRIP1 NUBPL NUP107 OPA1 ORAI1 PAFAH1B1 PAK3 PARN PAX2 PAX3 PBX1 PDGFB PDHX PEX10 PEX2 PFKM PHACTR1 PIGA PIGH PIGN PIGS PITX1 PITX2 PKD2 PLAA PMP22 PNPLA2 POLG POLG2 POMT1 POMT2 PPCS PRCC PRDM8 PRKCG PROC PROK2 PROKR2 PRPF31 PRPF8 PRPS1 PRRT2 PRX PSAP PTCH1 PTCH2 PTPRO PUM1 PURA QDPR RAD51 RARS RARS2 RBCK1 REEP1 RELN RHOBTB2 RMND1 RNASEH2B ROGDI RPS29 RTEL1 RYR1 SAMD9L SAMHD1 SCN1A SCN1B SCN2A SCN4A SCN9A SCNN1A SDHB SELENON SERAC1 SETX SF3B4 SFTPC SFXN4 SGCA SGCE SGPL1 SHH SIX1 SIX3 SLC10A2 SLC17A8 SLC25A26 SLC25A46 SLC2A1 SLC30A10 SLC3A1 SLC52A2 SLC5A2 SLC5A7 SLC7A9 SLX4 SMAD9 SNORD118 SPAST SPG21 SPR SPTAN1 STAT1 STAT2 STIM1 STX1B STXBP1 SUFU SURF1 TAF13 TBC1D24 TBCD TBCK TENM4 TH THAP1 TK2 TMEM106B TMEM126A TMEM173 TNFRSF11B TOR1A TPM2 TPM3 TRIT1 TRNC TRNF TRNK TRNL1 TRNQ TRNS1 TRNS2 TRNT1 TRNV TRNW TRPV4 TSEN15 TTN TUBB2A TUBB2B TUBB3 TUBB4A TUBB6 TUBG1 TWIST1 VAMP1 VCP VEGFC VMA21 VPS13D VWF WDR26 WNT10B WWOX ZBTB18 ZIC3

Diseases (380) :601419 617052 617162 306955 613287 255310 616852 603278 615688 617008 614487 212350 615120 300751 613451 615034 611307 613319 228600 617839 175100 600151 228000 182600 602481 128235 535000 300972 300423 618012 603516 241600 615986 262000 615290 178600 617333 615035 615043 615751 108500 170400 613855 251450 606721 615343 616969 615122 615615 615607 618261 614226 614779 605376 613912 608930 610353 600513 612001 608931 617600 617090 605635 618015 617854 301008 175780 614483 158810 254090 612016 540000 121300 180849 606217 615636 616100 155255 615030 616538 611105 157600 300067 604364 617836 613839 246900 614388 608093 608799 610805 617610 302960 607678 145900 615605 300148 133190 617300 610758 278780 617763 614678 602588 113650 227600 613679 227500 610532 614946 618089 615575 617166 193100 147950 101400 150800 611228 612691 606612 607155 611588 173600 300624 304790 617829 611277 600666 300835 300367 617912 233910 118100 187900 612474 302800 129500 613480 615849 610829 175700 146510 272750 615351 615352 166350 614201 617810 617805 260000 617864 245570 616139 613970 617988 616198 615750 616199 616625 300882 252930 609115 218030 617093 615330 615846 616873 118450 610443 160120 615344 617643 617601 152950 614255 615282 615731 617284 116860 601001 158000 615960 618138 615191 600512 181350 613205 617875 614436 617271 615486 606070 308205 616968 617282 608808 614399 605074 615942 617087 609260 193510 607174 176450 614741 615219 118200 618184 604391 615395 617872 614350 605637 182920 300855 301020 618234 618239 618222 616924 607684 607734 300912 162091 616576 615577 600363 611762 617772 256700 600995 617116 617118 617480 618270 618242 616730 165500 615883 607432 300558 616353 616371 616002 148820 617641 245349 614871 614867 232800 618298 300868 618010 614080 618143 119800 180500 613095 617527 118220 610717 613662 610131 609308 613158 618189 616640 605361 612304 610628 244200 600138 600059 311070 128200 605751 249900 109400 610828 614196 617931 616158 261630 614508 616140 611523 615895 610250 618004 614922 610181 226750 615909 615190 616373 159550 612952 604403 604233 613721 614198 613863 243000 618126 115310 614739 606002 154400 610913 615578 608099 159900 617575 142945 611638 147250 157170 613291 605583 616794 616505 612126 613280 220100 614707 233100 617143 613951 615342 614561 182601 248900 612716 613477 614892 616636 612783 616172 612164 616684 617432 605021 617193 616900 616736 605407 602629 609560 617964 612989 615934 239000 128100 609285 617873 616084 606071 600175 181405 617026 600334 615763 610031 614039 612438 617732 615412 108600 616687 615907 310440 607317 193400 613554 617616 225300 616211 612337 607829 601777
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.