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:0000282 | HP:0000282 | Facial edema | 0 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 72 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 123 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | ACTN4 CL E G H | 81 | 166 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 27 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | | | | 165 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | ADAMTS3 CL E G H | 9508 | 219 | OMIM:618154 | Hennekam lymphangiectasia-lymphedema syndrome 3 | . | | | 1 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | ALB CL E G H | 213 | 399 | ORPHA:86816 | Congenital analbuminemia | HP:0040283 - Occasional | | | 104 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | ANAPC1 CL E G H | 64682 | 19988 | ORPHA:221008 | Rothmund-Thomson syndrome type 1 | HP:0040283 - Occasional | | | 2 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | ANGPT1 CL E G H | 284 | 484 | OMIM:619361 | ANGIOEDEMA, HEREDITARY, 5; HAE5 | | | | 5 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | ANKFY1 CL E G H | 51479 | 20763 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | ANLN CL E G H | 54443 | 14082 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 6 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | | | | 8 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | APOL1 CL E G H | 8542 | 618 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 3 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | ARHGAP24 CL E G H | 83478 | 25361 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 4 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | ARHGDIA CL E G H | 396 | 678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 3 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | | | | 34 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | | | | 147 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | CD2AP CL E G H | 23607 | 14258 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 105 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 373 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | COL4A3 CL E G H | 1285 | 2204 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 161 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 660 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 325 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | COQ8B CL E G H | 79934 | 19041 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 35 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | CRB2 CL E G H | 286204 | 18688 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 12 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 10 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | DAAM2 CL E G H | 23500 | 18143 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:269 | Facioscapulohumeral dystrophy | | | | 79 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | DUOX2 CL E G H | 50506 | 13273 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 121 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | DUOXA2 CL E G H | 405753 | 32698 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 11 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | DUX4 CL E G H | 100288687 | 50800 | ORPHA:269 | Facioscapulohumeral dystrophy | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | EMP2 CL E G H | 2013 | 3334 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 4 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | EPHB4 CL E G H | 2050 | 3395 | OMIM:617300 | Lymphatic malformation 7 | . | | | 3 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:90186 | Meige disease | HP:0040283 - Occasional | | | 3 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | F12 CL E G H | 2161 | 3530 | OMIM:610618 | ANGIOEDEMA, HEREDITARY, TYPE III; HAE3 | | | | 28 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | | | | 177 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | FRG1 CL E G H | 2483 | 3954 | ORPHA:269 | Facioscapulohumeral dystrophy | | | | 1 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | FRMD4A CL E G H | 55691 | 25491 | OMIM:616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | | | | 1 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | FRMD4A CL E G H | 55691 | 25491 | ORPHA:466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | | | | 1 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | GAPVD1 CL E G H | 26130 | 23375 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | HAVCR2 CL E G H | 84868 | 18437 | OMIM:618398 | T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE | HP:0040284 - Very rare | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | HESX1 CL E G H | 8820 | 4877 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 21 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 1 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | HS3ST6 CL E G H | 64711 | 14178 | OMIM:619367 | ANGIOEDEMA, HEREDITARY, 8; HAE8 | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | IGSF3 CL E G H | 3321 | 5950 | OMIM:149700 | Lacrimal duct defect | | | | 3 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | INF2 CL E G H | 64423 | 23791 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 135 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | IYD CL E G H | 389434 | 21071 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 130 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | | | | 11 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | | | | 11 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | | | | 276 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | KNG1 CL E G H | 3827 | 6383 | OMIM:619363 | ANGIOEDEMA, HEREDITARY, 6; HAE6 | | | | 7 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | | | | 13 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | LHX3 CL E G H | 8022 | 6595 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 51 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | LHX4 CL E G H | 89884 | 21734 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 43 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | LTBP4 CL E G H | 8425 | 6717 | OMIM:613177 | Cutis laxa, autosomal recessive, type IC | | | | 92 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | MAGI2 CL E G H | 9863 | 18957 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 59 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | | | | 9 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | MYO1E CL E G H | 4643 | 7599 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 3 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | MYOF CL E G H | 26509 | 3656 | OMIM:619366 | ANGIOEDEMA, HEREDITARY, 7; HAE7 | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | NEU1 CL E G H | 4758 | 7758 | OMIM:256550 | Neuraminidase deficiency | . | | | 43 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | NPHS1 CL E G H | 4868 | 7908 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 241 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | NPHS2 CL E G H | 7827 | 13394 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 69 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | NUP107 CL E G H | 57122 | 29914 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 5 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | NUP133 CL E G H | 55746 | 18016 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 1 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | NUP160 CL E G H | 23279 | 18017 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | NUP205 CL E G H | 23165 | 18658 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 1 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | NUP37 CL E G H | 79023 | 29929 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | NUP85 CL E G H | 79902 | 8734 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | NUP93 CL E G H | 9688 | 28958 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 5 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | PAX2 CL E G H | 5076 | 8616 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 39 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | | | | 82 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | | | | 99 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:616843 | Lymphedema, hereditary, III | | | | 36 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | PLCE1 CL E G H | 51196 | 17175 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 118 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | PLG CL E G H | 5340 | 9071 | OMIM:619360 | ANGIOEDEMA, HEREDITARY, 4; HAE4 | | | | 11 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | | | | 2 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | POU1F1 CL E G H | 5449 | 9210 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 36 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | PROP1 CL E G H | 5626 | 9455 | ORPHA:226307 | Hypothyroidism due to deficient transcription factors involved in pituitary development or function | HP:0040282 - Frequent | | | 54 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | PSPH CL E G H | 5723 | 9577 | ORPHA:79350 | 3-phosphoserine phosphatase deficiency, infantile/juvenile form | | | | 54 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | | | | 3 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | PTPRO CL E G H | 5800 | 9678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 2 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | RECQL4 CL E G H | 9401 | 9949 | ORPHA:221016 | Rothmund-Thomson syndrome type 2 | HP:0040283 - Occasional | | | 445 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | | | | 43 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | SERPING1 CL E G H | 710 | 1228 | OMIM:106100 | Angioedema, hereditary, 1 | | | | 64 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | SERPING1 CL E G H | 710 | 1228 | ORPHA:100050 | Hereditary angioedema type 1 | HP:0040281 - Very frequent | | | 64 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | | | | 53 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | | | | 68 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | | | | 71 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | SLC5A5 CL E G H | 6528 | 11040 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 59 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:269 | Facioscapulohumeral dystrophy | | | | 174 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | | | | 14 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:607823 | Hypotrichosis-Lymphedema-Telangiectasia syndrome | | | | 7 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | SOX18 CL E G H | 54345 | 11194 | ORPHA:69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | | | | 7 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | | | | 7 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | | | | 80 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | TBC1D8B CL E G H | 54885 | 24715 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 1 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | TG CL E G H | 7038 | 11764 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 155 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:608470 | Corneal dystrophy, Reis-Bucklers type | | | | 58 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | | | | 131 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | TPO CL E G H | 7173 | 12015 | ORPHA:95716 | Familial thyroid dyshormonogenesis | HP:0040283 - Occasional | | | 92 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | TRPC6 CL E G H | 7225 | 12338 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 107 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | TSHB CL E G H | 7252 | 12372 | ORPHA:90674 | Isolated thyroid-stimulating hormone deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | WT1 CL E G H | 7490 | 12796 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | | | | 177 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | XPNPEP2 CL E G H | 7512 | 12823 | ORPHA:100057 | Renin-angiotensin-aldosterone system-blocker-induced angioedema | | | | 4 | | |
HP:0000282 | HP:0000282 | Facial edema | 0 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | | | | 1 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 72 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | | | | 123 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | ACTN4 CL E G H | 81 | 166 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 27 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | | | | 165 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | | | | 95 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | ANKFY1 CL E G H | 51479 | 20763 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | ANLN CL E G H | 54443 | 14082 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 6 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | | | | 8 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | APOL1 CL E G H | 8542 | 618 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | ARHGAP24 CL E G H | 83478 | 25361 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | ARHGDIA CL E G H | 396 | 678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | | | | 34 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | | | | 34 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | CCBE1 CL E G H | 147372 | 29426 | OMIM:235510 | Hennekam lymphangiectasia-lymphedema syndrome | . | | | 147 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | CD2AP CL E G H | 23607 | 14258 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 105 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 373 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | COL4A3 CL E G H | 1285 | 2204 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 161 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 660 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 325 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | COQ8B CL E G H | 79934 | 19041 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | CRB2 CL E G H | 286204 | 18688 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 12 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 10 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | DAAM2 CL E G H | 23500 | 18143 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:269 | Facioscapulohumeral dystrophy | | | | 79 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | DUX4 CL E G H | 100288687 | 50800 | ORPHA:269 | Facioscapulohumeral dystrophy | | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 172 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | EMP2 CL E G H | 2013 | 3334 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | EPHB4 CL E G H | 2050 | 3395 | ORPHA:90186 | Meige disease | HP:0040283 - Occasional | | | 3 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | | | | 177 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | FRG1 CL E G H | 2483 | 3954 | ORPHA:269 | Facioscapulohumeral dystrophy | | | | 1 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | FRMD4A CL E G H | 55691 | 25491 | OMIM:616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | | | | 1 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | FRMD4A CL E G H | 55691 | 25491 | ORPHA:466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | | | | 1 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | GAPVD1 CL E G H | 26130 | 23375 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | | | | 240 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | | | | 5 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 1 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | IGSF3 CL E G H | 3321 | 5950 | OMIM:149700 | Lacrimal duct defect | HP:0040283 - Occasional | | | 3 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | INF2 CL E G H | 64423 | 23791 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 135 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | | | | 11 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | | | | 11 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | | | | 276 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 1 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | | | | 13 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | LTBP4 CL E G H | 8425 | 6717 | OMIM:613177 | Cutis laxa, autosomal recessive, type IC | . | | | 92 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | MAGI2 CL E G H | 9863 | 18957 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 59 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | MYD88 CL E G H | 4615 | 7562 | ORPHA:33226 | Waldenström macroglobulinemia | HP:0040283 - Occasional | | | 9 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | MYO1E CL E G H | 4643 | 7599 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | 13 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | NPHS1 CL E G H | 4868 | 7908 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 241 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | NPHS2 CL E G H | 7827 | 13394 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 69 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | NUP107 CL E G H | 57122 | 29914 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | NUP133 CL E G H | 55746 | 18016 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | NUP160 CL E G H | 23279 | 18017 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | NUP205 CL E G H | 23165 | 18658 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | NUP37 CL E G H | 79023 | 29929 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | NUP85 CL E G H | 79902 | 8734 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | NUP93 CL E G H | 9688 | 28958 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 5 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | PAX2 CL E G H | 5076 | 8616 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 39 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | | | | 82 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | | | | 99 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | PIEZO1 CL E G H | 9780 | 28993 | OMIM:616843 | Lymphedema, hereditary, III | . | | | 36 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | | | | 9 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | PLCE1 CL E G H | 51196 | 17175 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 118 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | POMP CL E G H | 51371 | 20330 | OMIM:618048 | Proteasome-Associated autoinflammatory syndrome 2 | . | | | 2 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | PSMB4 CL E G H | 5692 | 9541 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | PSMB9 CL E G H | 5698 | 9546 | OMIM:617591 | Proteasome-Associated autoinflammatory syndrome 3 | . | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | PSPH CL E G H | 5723 | 9577 | ORPHA:79350 | 3-phosphoserine phosphatase deficiency, infantile/juvenile form | | | | 54 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040282 - Frequent | | | 3 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | PTPRO CL E G H | 5800 | 9678 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | | | | 43 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | | | | 43 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | SERPING1 CL E G H | 710 | 1228 | OMIM:106100 | Angioedema, hereditary, 1 | | | | 64 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | | | | 53 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | | | | 68 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | | | | 71 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:269 | Facioscapulohumeral dystrophy | | | | 174 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | | | | 14 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | SOX18 CL E G H | 54345 | 11194 | OMIM:607823 | Hypotrichosis-Lymphedema-Telangiectasia syndrome | | | | 7 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | | | | 7 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | SOX18 CL E G H | 54345 | 11194 | ORPHA:69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | | | | 7 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | SUMF1 CL E G H | 285362 | 20376 | OMIM:272200 | Multiple sulfatase deficiency | . | | | 80 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | TBC1D8B CL E G H | 54885 | 24715 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | TGFBI CL E G H | 7045 | 11771 | OMIM:608470 | Corneal dystrophy, Reis-Bucklers type | | | | 58 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | TNFRSF1A CL E G H | 7132 | 11916 | OMIM:142680 | Periodic fever, familial, autosomal dominant | | | | 131 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | TNFRSF1A CL E G H | 7132 | 11916 | ORPHA:32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | HP:0040283 - Occasional | | | 131 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | TRPC6 CL E G H | 7225 | 12338 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 107 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040281 - Very frequent | | | | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | WT1 CL E G H | 7490 | 12796 | ORPHA:656 | Genetic steroid-resistant nephrotic syndrome | HP:0040282 - Frequent | | | 177 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | XPNPEP2 CL E G H | 7512 | 12823 | ORPHA:100057 | Renin-angiotensin-aldosterone system-blocker-induced angioedema | | | | 4 | | |
HP:0000282 | HP:0100539 | Periorbital edema | 1 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | | | | 1 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | ACTB CL E G H | 60 | 132 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040283 - Occasional | | | 72 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | ACTG1 CL E G H | 71 | 144 | ORPHA:2995 | Baraitser-Winter cerebrofrontofacial syndrome | HP:0040283 - Occasional | | | 123 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | | | | 165 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | AIP CL E G H | 9049 | 358 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 95 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | ANTXR1 CL E G H | 84168 | 21014 | ORPHA:2067 | GAPO syndrome | HP:0040281 - Very frequent | | | 8 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | CAMTA1 CL E G H | 23261 | 18806 | OMIM:614756 | Cerebellar ataxia, nonprogressive, with mental retardation | HP:0040283 - Occasional | | | 34 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | CAMTA1 CL E G H | 23261 | 18806 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040284 - Very rare | | | 34 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | | | | 2 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 373 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 660 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | | | | 325 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | DNMT3B CL E G H | 1789 | 2979 | ORPHA:269 | Facioscapulohumeral dystrophy | HP:0040282 - Frequent | | | 79 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | DUX4 CL E G H | 100288687 | 50800 | ORPHA:269 | Facioscapulohumeral dystrophy | HP:0040282 - Frequent | | | | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | FOXG1 CL E G H | 2290 | 3811 | ORPHA:261144 | FOXG1 syndrome due to 14q12 microdeletion | HP:0040282 - Frequent | | | 177 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | FRG1 CL E G H | 2483 | 3954 | ORPHA:269 | Facioscapulohumeral dystrophy | HP:0040282 - Frequent | | | 1 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | FRMD4A CL E G H | 55691 | 25491 | OMIM:616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | | | | 1 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | FRMD4A CL E G H | 55691 | 25491 | ORPHA:466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | GPR101 CL E G H | 83550 | 14963 | ORPHA:963 | Acromegaly | HP:0040282 - Frequent | | | 5 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | | | | 53 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | KCTD1 CL E G H | 284252 | 18249 | ORPHA:2036 | Scalp-ear-nipple syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | KCTD1 CL E G H | 284252 | 18249 | OMIM:181270 | Scalp-Ear-Nipple syndrome | . | | | 11 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | KIF1A CL E G H | 547 | 888 | ORPHA:2836 | PEHO syndrome | HP:0040282 - Frequent | | | 276 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | KNSTRN CL E G H | 90417 | 30767 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 1 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | KPTN CL E G H | 11133 | 6404 | ORPHA:397612 | Macrocephaly-developmental delay syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | PIK3CD CL E G H | 5293 | 8977 | ORPHA:221139 | Combined immunodeficiency with faciooculoskeletal anomalies | HP:0040282 - Frequent | | | 9 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | POU4F1 CL E G H | 5457 | 9218 | ORPHA:314647 | Non-progressive cerebellar ataxia with intellectual disability | HP:0040284 - Very rare | | | | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | PSPH CL E G H | 5723 | 9577 | ORPHA:79350 | 3-phosphoserine phosphatase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 54 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | RIN2 CL E G H | 54453 | 18750 | OMIM:613075 | Macs syndrome | . | | | 43 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | | | | 43 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | SHANK3 CL E G H | 85358 | 14294 | ORPHA:48652 | Monosomy 22q13.3 | HP:0040282 - Frequent | | | 53 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | SHANK3 CL E G H | 85358 | 14294 | OMIM:606232 | Phelan-Mcdermid syndrome | | | | 53 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | | | | 68 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | SLC35C1 CL E G H | 55343 | 20197 | ORPHA:99843 | Leukocyte adhesion deficiency type II | HP:0040283 - Occasional | | | 71 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | SMCHD1 CL E G H | 23347 | 29090 | ORPHA:269 | Facioscapulohumeral dystrophy | HP:0040282 - Frequent | | | 174 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040282 - Frequent | | | 14 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | SOX18 CL E G H | 54345 | 11194 | OMIM:607823 | Hypotrichosis-Lymphedema-Telangiectasia syndrome | . | | | 7 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | SOX18 CL E G H | 54345 | 11194 | ORPHA:69735 | Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome | HP:0040282 - Frequent | | | 7 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | SOX18 CL E G H | 54345 | 11194 | OMIM:137940 | Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome | . | | | 7 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | SPTBN1 CL E G H | 6711 | 11275 | OMIM:619475 | DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA | | | | | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | TGFBI CL E G H | 7045 | 11771 | OMIM:608470 | Corneal dystrophy, Reis-Bucklers type | | | | 58 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | XPNPEP2 CL E G H | 7512 | 12823 | ORPHA:100057 | Renin-angiotensin-aldosterone system-blocker-induced angioedema | | | | 4 | | |
HP:0000282 | HP:0100540 | Palpebral edema | 2 | ZNHIT3 CL E G H | 9326 | 12309 | ORPHA:2836 | PEHO syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0000282 | HP:0012568 | Lower eyelid edema | 3 | CL E G H | | | | | | | | | | |
HP:0000282 | HP:0010749 | Blepharochalasis | 3 | ADAMTS2 CL E G H | 9509 | 218 | OMIM:225410 | Ehlers-Danlos syndrome, type VII, autosomal recessive | . | | | 165 | | |
HP:0000282 | HP:0010749 | Blepharochalasis | 3 | CDH11 CL E G H | 1009 | 1750 | ORPHA:1299 | Branchioskeletogenital syndrome | HP:0040281 - Very frequent | | | 2 | | |
HP:0000282 | HP:0010749 | Blepharochalasis | 3 | COL1A1 CL E G H | 1277 | 2197 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 373 | | |
HP:0000282 | HP:0010749 | Blepharochalasis | 3 | COL5A1 CL E G H | 1289 | 2209 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 660 | | |
HP:0000282 | HP:0010749 | Blepharochalasis | 3 | COL5A2 CL E G H | 1290 | 2210 | ORPHA:287 | Classical Ehlers-Danlos syndrome | HP:0040283 - Occasional | | | 325 | | |
HP:0000282 | HP:0012724 | Upper eyelid edema | 3 | FRMD4A CL E G H | 55691 | 25491 | OMIM:616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | | | | 1 | | |
HP:0000282 | HP:0010749 | Blepharochalasis | 3 | GSN CL E G H | 2934 | 4620 | ORPHA:85448 | AGel amyloidosis | HP:0040283 - Occasional | | | 53 | | |
HP:0000282 | HP:0012724 | Upper eyelid edema | 3 | KAT6A CL E G H | 7994 | 13013 | OMIM:616268 | Arboleda-Tham syndrome | | | | 34 | | |
HP:0000282 | HP:0012724 | Upper eyelid edema | 3 | MED12L CL E G H | 116931 | 16050 | OMIM:618872 | NIZON-ISIDOR SYNDROME; NIZIDS | | | | | | |
HP:0000282 | HP:0012724 | Upper eyelid edema | 3 | RIN2 CL E G H | 54453 | 18750 | ORPHA:217335 | RIN2 syndrome | HP:0040281 - Very frequent | | | 43 | | |
HP:0000282 | HP:0012724 | Upper eyelid edema | 3 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040283 - Occasional | | | 68 | | |