Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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HPO disease - gene - phenotype typical associations: |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ADAM17 CL E G H | 6868 | 614328 | Inflammatory skin and bowel disease, neonatal 1 | 614328 | C3280501 | OMIM | 1 | | 329 | 195 | 603639 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ADAM17 CL E G H | 6868 | 614328 | Inflammatory skin and bowel disease, neonatal 1 | 614328 | C3280501 | OMIM | 1 | | 263 | 195 | 603639 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | APOE CL E G H | 348 | 158029 | | | | ORPHA | 1 | | 80 | 613 | 107741 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | APOE CL E G H | 348 | 158029 | | | | ORPHA | 1 | | 78 | 613 | 107741 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 2028 | 2214 | 120120 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 1658 | 2214 | 120120 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 426 | 2890 | 300126 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 396 | 2890 | 300126 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 223 | 4288 | 604418 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 214 | 4288 | 604418 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 287 | 13315 | 300269 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 269 | 13315 | 300269 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 974 | 7132 | 159555 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 673 | 7132 | 159555 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | MBTPS2 CL E G H | 51360 | 308800 | Keratosis pilaris decalvans | 308800 | C0343057 | OMIM | 1 | | 242 | 15455 | 300294 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | MBTPS2 CL E G H | 51360 | 308800 | Keratosis pilaris decalvans | 308800 | C0343057 | OMIM | 1 | | 231 | 15455 | 300294 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | MMP1 CL E G H | 4312 | 79408 | | | | ORPHA | 1 | | 65 | 7155 | 120353 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | MMP1 CL E G H | 4312 | 79408 | | | | ORPHA | 1 | | 63 | 7155 | 120353 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | MSMO1 CL E G H | 6307 | 616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | 616834 | C4225189 | OMIM | 1 | | 74 | 10545 | 607545 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | MSMO1 CL E G H | 6307 | 616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | 616834 | C4225189 | OMIM | 1 | | 70 | 10545 | 607545 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1069 | 28862 | 608667 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1003 | 28862 | 608667 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | PKP1 CL E G H | 5317 | 158668 | | | | ORPHA | 1 | | 232 | 9023 | 601975 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | PKP1 CL E G H | 5317 | 158668 | | | | ORPHA | 1 | | 229 | 9023 | 601975 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | PLCD1 CL E G H | 5333 | 2387 | Friedman Goodman syndrome | | | ORPHA | 1 | | 69 | 9060 | 602142 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | PLCD1 CL E G H | 5333 | 2387 | Friedman Goodman syndrome | | | ORPHA | 1 | | 66 | 9060 | 602142 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 254 | 9811 | 606462 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 239 | 9811 | 606462 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 492 | 25566 | 615743 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 418 | 25566 | 615743 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | SLC39A4 CL E G H | 55630 | 37 | Chromosome 3, monosomy 3p | | C0795806 | ORPHA | 1 | | 486 | 17129 | 607059 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | SLC39A4 CL E G H | 55630 | 37 | Chromosome 3, monosomy 3p | | C0795806 | ORPHA | 1 | | 449 | 17129 | 607059 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 690 | 11111 | 300040 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 635 | 11111 | 300040 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 322 | 2468 | 606062 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 311 | 2468 | 606062 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ST14 CL E G H | 6768 | 602400 | Ichthyosis, congenital, autosomal recessive 11 | 602400 | C1865595 | OMIM | 1 | | 162 | 11344 | 606797 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ST14 CL E G H | 6768 | 602400 | Ichthyosis, congenital, autosomal recessive 11 | 602400 | C1865595 | OMIM | 1 | | 160 | 11344 | 606797 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TP63 CL E G H | 8626 | 1896 | Dominant cleft palate | | | ORPHA | 1 | | 444 | 15979 | 603273 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TP63 CL E G H | 8626 | 1896 | Dominant cleft palate | | | ORPHA | 1 | | 376 | 15979 | 603273 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TP63 CL E G H | 8626 | 604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | 604292 | C1858562 | OMIM | 1 | | 444 | 15979 | 603273 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TP63 CL E G H | 8626 | 604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | 604292 | C1858562 | OMIM | 1 | | 376 | 15979 | 603273 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TP63 CL E G H | 8626 | 106260 | Hay-Wells syndrome of ectodermal dysplasia | 106260 | C0406709 | OMIM | 1 | | 444 | 15979 | 603273 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TP63 CL E G H | 8626 | 106260 | Hay-Wells syndrome of ectodermal dysplasia | 106260 | C0406709 | OMIM | 1 | | 376 | 15979 | 603273 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TRAF3IP2 CL E G H | 10758 | 615527 | Candidiasis, familial, 8 | 615527 | C3714992 | OMIM | 1 | | 159 | 1343 | 607043 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TRAF3IP2 CL E G H | 10758 | 615527 | Candidiasis, familial, 8 | 615527 | C3714992 | OMIM | 1 | | 133 | 1343 | 607043 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | USB1 CL E G H | 79650 | 604173 | Poikiloderma with neutropenia | 604173 | C1858723 | OMIM | 1 | | 181 | 25792 | 613276 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | USB1 CL E G H | 79650 | 604173 | Poikiloderma with neutropenia | 604173 | C1858723 | OMIM | 1 | | 118 | 25792 | 613276 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | ADAM17 CL E G H | 6868 | 614328 | Inflammatory skin and bowel disease, neonatal 1 | 614328 | C3280501 | OMIM | 1 | | 263 | 195 | 603639 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | ADAM17 CL E G H | 6868 | 614328 | Inflammatory skin and bowel disease, neonatal 1 | 614328 | C3280501 | OMIM | 1 | | 329 | 195 | 603639 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | ADAM17 CL E G H | 6868 | 614328 | Inflammatory skin and bowel disease, neonatal 1 | 614328 | C3280501 | OMIM | 1 | | 263 | 195 | 603639 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | ADAM17 CL E G H | 6868 | 614328 | Inflammatory skin and bowel disease, neonatal 1 | 614328 | C3280501 | OMIM | 1 | | 329 | 195 | 603639 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | APOE CL E G H | 348 | 158029 | | | | ORPHA | 1 | | 78 | 613 | 107741 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | APOE CL E G H | 348 | 158029 | | | | ORPHA | 1 | | 80 | 613 | 107741 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | APOE CL E G H | 348 | 158029 | | | | ORPHA | 1 | | 78 | 613 | 107741 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | APOE CL E G H | 348 | 158029 | | | | ORPHA | 1 | | 80 | 613 | 107741 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 1658 | 2214 | 120120 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 2028 | 2214 | 120120 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 1658 | 2214 | 120120 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 2028 | 2214 | 120120 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 396 | 2890 | 300126 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 426 | 2890 | 300126 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 396 | 2890 | 300126 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 426 | 2890 | 300126 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 214 | 4288 | 604418 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 223 | 4288 | 604418 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 214 | 4288 | 604418 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 223 | 4288 | 604418 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 269 | 13315 | 300269 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 287 | 13315 | 300269 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 269 | 13315 | 300269 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 287 | 13315 | 300269 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 673 | 7132 | 159555 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 974 | 7132 | 159555 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 673 | 7132 | 159555 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 974 | 7132 | 159555 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | MBTPS2 CL E G H | 51360 | 308800 | Keratosis pilaris decalvans | 308800 | C0343057 | OMIM | 1 | | 231 | 15455 | 300294 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | MBTPS2 CL E G H | 51360 | 308800 | Keratosis pilaris decalvans | 308800 | C0343057 | OMIM | 1 | | 242 | 15455 | 300294 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | MBTPS2 CL E G H | 51360 | 308800 | Keratosis pilaris decalvans | 308800 | C0343057 | OMIM | 1 | | 231 | 15455 | 300294 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | MBTPS2 CL E G H | 51360 | 308800 | Keratosis pilaris decalvans | 308800 | C0343057 | OMIM | 1 | | 242 | 15455 | 300294 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | MMP1 CL E G H | 4312 | 79408 | | | | ORPHA | 1 | | 63 | 7155 | 120353 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | MMP1 CL E G H | 4312 | 79408 | | | | ORPHA | 1 | | 65 | 7155 | 120353 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | MMP1 CL E G H | 4312 | 79408 | | | | ORPHA | 1 | | 63 | 7155 | 120353 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | MMP1 CL E G H | 4312 | 79408 | | | | ORPHA | 1 | | 65 | 7155 | 120353 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | MSMO1 CL E G H | 6307 | 616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | 616834 | C4225189 | OMIM | 1 | | 70 | 10545 | 607545 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | MSMO1 CL E G H | 6307 | 616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | 616834 | C4225189 | OMIM | 1 | | 74 | 10545 | 607545 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | MSMO1 CL E G H | 6307 | 616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | 616834 | C4225189 | OMIM | 1 | | 70 | 10545 | 607545 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | MSMO1 CL E G H | 6307 | 616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | 616834 | C4225189 | OMIM | 1 | | 74 | 10545 | 607545 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1003 | 28862 | 608667 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1069 | 28862 | 608667 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1003 | 28862 | 608667 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1069 | 28862 | 608667 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | PKP1 CL E G H | 5317 | 158668 | | | | ORPHA | 1 | | 229 | 9023 | 601975 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | PKP1 CL E G H | 5317 | 158668 | | | | ORPHA | 1 | | 232 | 9023 | 601975 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | PKP1 CL E G H | 5317 | 158668 | | | | ORPHA | 1 | | 229 | 9023 | 601975 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | PKP1 CL E G H | 5317 | 158668 | | | | ORPHA | 1 | | 232 | 9023 | 601975 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | PLCD1 CL E G H | 5333 | 2387 | Friedman Goodman syndrome | | | ORPHA | 1 | | 66 | 9060 | 602142 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | PLCD1 CL E G H | 5333 | 2387 | Friedman Goodman syndrome | | | ORPHA | 1 | | 69 | 9060 | 602142 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | PLCD1 CL E G H | 5333 | 2387 | Friedman Goodman syndrome | | | ORPHA | 1 | | 66 | 9060 | 602142 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | PLCD1 CL E G H | 5333 | 2387 | Friedman Goodman syndrome | | | ORPHA | 1 | | 69 | 9060 | 602142 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 239 | 9811 | 606462 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 254 | 9811 | 606462 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 239 | 9811 | 606462 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 254 | 9811 | 606462 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 418 | 25566 | 615743 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 492 | 25566 | 615743 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 418 | 25566 | 615743 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 492 | 25566 | 615743 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | SLC39A4 CL E G H | 55630 | 37 | Chromosome 3, monosomy 3p | | C0795806 | ORPHA | 1 | | 449 | 17129 | 607059 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | SLC39A4 CL E G H | 55630 | 37 | Chromosome 3, monosomy 3p | | C0795806 | ORPHA | 1 | | 486 | 17129 | 607059 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | SLC39A4 CL E G H | 55630 | 37 | Chromosome 3, monosomy 3p | | C0795806 | ORPHA | 1 | | 449 | 17129 | 607059 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | SLC39A4 CL E G H | 55630 | 37 | Chromosome 3, monosomy 3p | | C0795806 | ORPHA | 1 | | 486 | 17129 | 607059 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 635 | 11111 | 300040 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 690 | 11111 | 300040 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 635 | 11111 | 300040 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 690 | 11111 | 300040 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 311 | 2468 | 606062 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 322 | 2468 | 606062 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 311 | 2468 | 606062 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 322 | 2468 | 606062 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | ST14 CL E G H | 6768 | 602400 | Ichthyosis, congenital, autosomal recessive 11 | 602400 | C1865595 | OMIM | 1 | | 160 | 11344 | 606797 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | ST14 CL E G H | 6768 | 602400 | Ichthyosis, congenital, autosomal recessive 11 | 602400 | C1865595 | OMIM | 1 | | 162 | 11344 | 606797 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | ST14 CL E G H | 6768 | 602400 | Ichthyosis, congenital, autosomal recessive 11 | 602400 | C1865595 | OMIM | 1 | | 160 | 11344 | 606797 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | ST14 CL E G H | 6768 | 602400 | Ichthyosis, congenital, autosomal recessive 11 | 602400 | C1865595 | OMIM | 1 | | 162 | 11344 | 606797 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TP63 CL E G H | 8626 | 1896 | Dominant cleft palate | | | ORPHA | 1 | | 376 | 15979 | 603273 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TP63 CL E G H | 8626 | 1896 | Dominant cleft palate | | | ORPHA | 1 | | 444 | 15979 | 603273 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TP63 CL E G H | 8626 | 1896 | Dominant cleft palate | | | ORPHA | 1 | | 376 | 15979 | 603273 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TP63 CL E G H | 8626 | 1896 | Dominant cleft palate | | | ORPHA | 1 | | 444 | 15979 | 603273 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TP63 CL E G H | 8626 | 604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | 604292 | C1858562 | OMIM | 1 | | 376 | 15979 | 603273 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TP63 CL E G H | 8626 | 604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | 604292 | C1858562 | OMIM | 1 | | 444 | 15979 | 603273 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TP63 CL E G H | 8626 | 604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | 604292 | C1858562 | OMIM | 1 | | 376 | 15979 | 603273 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TP63 CL E G H | 8626 | 604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | 604292 | C1858562 | OMIM | 1 | | 444 | 15979 | 603273 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TP63 CL E G H | 8626 | 106260 | Hay-Wells syndrome of ectodermal dysplasia | 106260 | C0406709 | OMIM | 1 | | 376 | 15979 | 603273 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TP63 CL E G H | 8626 | 106260 | Hay-Wells syndrome of ectodermal dysplasia | 106260 | C0406709 | OMIM | 1 | | 444 | 15979 | 603273 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TP63 CL E G H | 8626 | 106260 | Hay-Wells syndrome of ectodermal dysplasia | 106260 | C0406709 | OMIM | 1 | | 376 | 15979 | 603273 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TP63 CL E G H | 8626 | 106260 | Hay-Wells syndrome of ectodermal dysplasia | 106260 | C0406709 | OMIM | 1 | | 444 | 15979 | 603273 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TRAF3IP2 CL E G H | 10758 | 615527 | Candidiasis, familial, 8 | 615527 | C3714992 | OMIM | 1 | | 133 | 1343 | 607043 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TRAF3IP2 CL E G H | 10758 | 615527 | Candidiasis, familial, 8 | 615527 | C3714992 | OMIM | 1 | | 159 | 1343 | 607043 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TRAF3IP2 CL E G H | 10758 | 615527 | Candidiasis, familial, 8 | 615527 | C3714992 | OMIM | 1 | | 133 | 1343 | 607043 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TRAF3IP2 CL E G H | 10758 | 615527 | Candidiasis, familial, 8 | 615527 | C3714992 | OMIM | 1 | | 159 | 1343 | 607043 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | USB1 CL E G H | 79650 | 604173 | Poikiloderma with neutropenia | 604173 | C1858723 | OMIM | 1 | | 118 | 25792 | 613276 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | USB1 CL E G H | 79650 | 604173 | Poikiloderma with neutropenia | 604173 | C1858723 | OMIM | 1 | | 181 | 25792 | 613276 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | USB1 CL E G H | 79650 | 604173 | Poikiloderma with neutropenia | 604173 | C1858723 | OMIM | 1 | | 118 | 25792 | 613276 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | USB1 CL E G H | 79650 | 604173 | Poikiloderma with neutropenia | 604173 | C1858723 | OMIM | 1 | | 181 | 25792 | 613276 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | ADAM17 CL E G H | 6868 | 614328 | Inflammatory skin and bowel disease, neonatal 1 | 614328 | C3280501 | OMIM | 1 | | 263 | 195 | 603639 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | ADAM17 CL E G H | 6868 | 614328 | Inflammatory skin and bowel disease, neonatal 1 | 614328 | C3280501 | OMIM | 1 | | 329 | 195 | 603639 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | APOE CL E G H | 348 | 158029 | | | | ORPHA | 1 | | 78 | 613 | 107741 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | APOE CL E G H | 348 | 158029 | | | | ORPHA | 1 | | 80 | 613 | 107741 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 1658 | 2214 | 120120 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | COL7A1 CL E G H | 1294 | 79408 | | | | ORPHA | 1 | | 2028 | 2214 | 120120 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 396 | 2890 | 300126 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | DKC1 CL E G H | 1736 | 305000 | Dyskeratosis congenita X-linked | 305000 | C1148551 | OMIM | 1 | | 426 | 2890 | 300126 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 214 | 4288 | 604418 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | GJB6 CL E G H | 10804 | 129500 | Hidrotic ectodermal dysplasia syndrome | 129500 | C0162361 | OMIM | 1 | | 223 | 4288 | 604418 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 269 | 13315 | 300269 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | HDAC8 CL E G H | 55869 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 287 | 13315 | 300269 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 673 | 7132 | 159555 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | KMT2A CL E G H | 4297 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 974 | 7132 | 159555 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | MBTPS2 CL E G H | 51360 | 308800 | Keratosis pilaris decalvans | 308800 | C0343057 | OMIM | 1 | | 231 | 15455 | 300294 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | MBTPS2 CL E G H | 51360 | 308800 | Keratosis pilaris decalvans | 308800 | C0343057 | OMIM | 1 | | 242 | 15455 | 300294 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | MMP1 CL E G H | 4312 | 79408 | | | | ORPHA | 1 | | 63 | 7155 | 120353 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | MMP1 CL E G H | 4312 | 79408 | | | | ORPHA | 1 | | 65 | 7155 | 120353 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | MSMO1 CL E G H | 6307 | 616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | 616834 | C4225189 | OMIM | 1 | | 70 | 10545 | 607545 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | MSMO1 CL E G H | 6307 | 616834 | Microcephaly, congenital cataract, and psoriasiform dermatitis | 616834 | C4225189 | OMIM | 1 | | 74 | 10545 | 607545 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1003 | 28862 | 608667 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | NIPBL CL E G H | 25836 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 1069 | 28862 | 608667 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | PKP1 CL E G H | 5317 | 158668 | | | | ORPHA | 1 | | 229 | 9023 | 601975 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | PKP1 CL E G H | 5317 | 158668 | | | | ORPHA | 1 | | 232 | 9023 | 601975 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | PLCD1 CL E G H | 5333 | 2387 | Friedman Goodman syndrome | | | ORPHA | 1 | | 66 | 9060 | 602142 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | PLCD1 CL E G H | 5333 | 2387 | Friedman Goodman syndrome | | | ORPHA | 1 | | 69 | 9060 | 602142 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 239 | 9811 | 606462 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | RAD21 CL E G H | 5885 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 254 | 9811 | 606462 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 418 | 25566 | 615743 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | SETD5 CL E G H | 55209 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 492 | 25566 | 615743 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | SLC39A4 CL E G H | 55630 | 37 | Chromosome 3, monosomy 3p | | C0795806 | ORPHA | 1 | | 449 | 17129 | 607059 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | SLC39A4 CL E G H | 55630 | 37 | Chromosome 3, monosomy 3p | | C0795806 | ORPHA | 1 | | 486 | 17129 | 607059 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 635 | 11111 | 300040 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | SMC1A CL E G H | 8243 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 690 | 11111 | 300040 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 311 | 2468 | 606062 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | SMC3 CL E G H | 9126 | 199 | Cardiac hydatid cysts with intracavitary expansion | | | ORPHA | 1 | | 322 | 2468 | 606062 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | ST14 CL E G H | 6768 | 602400 | Ichthyosis, congenital, autosomal recessive 11 | 602400 | C1865595 | OMIM | 1 | | 160 | 11344 | 606797 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | ST14 CL E G H | 6768 | 602400 | Ichthyosis, congenital, autosomal recessive 11 | 602400 | C1865595 | OMIM | 1 | | 162 | 11344 | 606797 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TP63 CL E G H | 8626 | 1896 | Dominant cleft palate | | | ORPHA | 1 | | 376 | 15979 | 603273 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TP63 CL E G H | 8626 | 1896 | Dominant cleft palate | | | ORPHA | 1 | | 444 | 15979 | 603273 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TP63 CL E G H | 8626 | 604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | 604292 | C1858562 | OMIM | 1 | | 376 | 15979 | 603273 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TP63 CL E G H | 8626 | 604292 | Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 | 604292 | C1858562 | OMIM | 1 | | 444 | 15979 | 603273 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TP63 CL E G H | 8626 | 106260 | Hay-Wells syndrome of ectodermal dysplasia | 106260 | C0406709 | OMIM | 1 | | 376 | 15979 | 603273 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TP63 CL E G H | 8626 | 106260 | Hay-Wells syndrome of ectodermal dysplasia | 106260 | C0406709 | OMIM | 1 | | 444 | 15979 | 603273 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TRAF3IP2 CL E G H | 10758 | 615527 | Candidiasis, familial, 8 | 615527 | C3714992 | OMIM | 1 | | 133 | 1343 | 607043 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TRAF3IP2 CL E G H | 10758 | 615527 | Candidiasis, familial, 8 | 615527 | C3714992 | OMIM | 1 | | 159 | 1343 | 607043 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | USB1 CL E G H | 79650 | 604173 | Poikiloderma with neutropenia | 604173 | C1858723 | OMIM | 1 | | 118 | 25792 | 613276 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | USB1 CL E G H | 79650 | 604173 | Poikiloderma with neutropenia | 604173 | C1858723 | OMIM | 1 | | 181 | 25792 | 613276 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000498 | HP:0000498 | Blepharitis | 0 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 918 | 26169 | 613129 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 729 | 26169 | 613129 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 426 | 2890 | 300126 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 396 | 2890 | 300126 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | GATA1 CL E G H | 2623 | 79277 | | | | ORPHA | 0 | | 304 | 4170 | 305371 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | GATA1 CL E G H | 2623 | 79277 | | | | ORPHA | 0 | | 283 | 4170 | 305371 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 0 | | 242 | 15455 | 300294 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 0 | | 231 | 15455 | 300294 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 136 | 14377 | 606470 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 113 | 14377 | 606470 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 88 | 14378 | 606471 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 80 | 14378 | 606471 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 356 | 8609 | 604212 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 266 | 8609 | 604212 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | PIGN CL E G H | 23556 | 280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | CN228166 | ORPHA | 0 | | 751 | 8967 | 606097 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | PIGN CL E G H | 23556 | 280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | CN228166 | ORPHA | 0 | | 651 | 8967 | 606097 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 0 | | 113 | 9107 | 604282 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 0 | | 112 | 9107 | 604282 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | REV3L CL E G H | 5980 | 570 | | | | ORPHA | 0 | | 129 | 9968 | 602776 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1605 | 15888 | 608833 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1339 | 15888 | 608833 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 234 | 11603 | 601719 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 161 | 11603 | 601719 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 291 | 11727 | 602322 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 227 | 11727 | 602322 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1887 | 11730 | 187270 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1606 | 11730 | 187270 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 288 | 11824 | 604319 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 230 | 11824 | 604319 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TP63 CL E G H | 8626 | 69085 | | | | ORPHA | 0 | | 444 | 15979 | 603273 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | TP63 CL E G H | 8626 | 69085 | | | | ORPHA | 0 | | 376 | 15979 | 603273 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | UROS CL E G H | 7390 | 79277 | | | | ORPHA | 0 | | 152 | 12592 | 606938 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | UROS CL E G H | 7390 | 79277 | | | | ORPHA | 0 | | 138 | 12592 | 606938 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 181 | 25792 | 613276 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 118 | 25792 | 613276 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 0 | | 463 | 12731 | 300392 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 0 | | 416 | 12731 | 300392 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 0 | | 194 | 12736 | 602357 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 0 | | 158 | 12736 | 602357 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 297 | 25522 | 612661 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 185 | 25522 | 612661 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0000498 | HP:0000498 | Blepharitis | 0 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 729 | 26169 | 613129 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 918 | 26169 | 613129 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 729 | 26169 | 613129 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 918 | 26169 | 613129 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 396 | 2890 | 300126 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 426 | 2890 | 300126 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 396 | 2890 | 300126 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 426 | 2890 | 300126 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | GATA1 CL E G H | 2623 | 79277 | | | | ORPHA | 0 | | 283 | 4170 | 305371 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | GATA1 CL E G H | 2623 | 79277 | | | | ORPHA | 0 | | 304 | 4170 | 305371 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | GATA1 CL E G H | 2623 | 79277 | | | | ORPHA | 0 | | 283 | 4170 | 305371 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | GATA1 CL E G H | 2623 | 79277 | | | | ORPHA | 0 | | 304 | 4170 | 305371 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 0 | | 231 | 15455 | 300294 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 0 | | 242 | 15455 | 300294 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 0 | | 231 | 15455 | 300294 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 0 | | 242 | 15455 | 300294 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 113 | 14377 | 606470 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 136 | 14377 | 606470 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 113 | 14377 | 606470 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 136 | 14377 | 606470 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 80 | 14378 | 606471 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 88 | 14378 | 606471 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 80 | 14378 | 606471 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 88 | 14378 | 606471 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 266 | 8609 | 604212 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 356 | 8609 | 604212 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 266 | 8609 | 604212 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 356 | 8609 | 604212 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | PIGN CL E G H | 23556 | 280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | CN228166 | ORPHA | 0 | | 651 | 8967 | 606097 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | PIGN CL E G H | 23556 | 280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | CN228166 | ORPHA | 0 | | 751 | 8967 | 606097 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | PIGN CL E G H | 23556 | 280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | CN228166 | ORPHA | 0 | | 651 | 8967 | 606097 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | PIGN CL E G H | 23556 | 280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | CN228166 | ORPHA | 0 | | 751 | 8967 | 606097 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 0 | | 112 | 9107 | 604282 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 0 | | 113 | 9107 | 604282 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 0 | | 112 | 9107 | 604282 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 0 | | 113 | 9107 | 604282 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | REV3L CL E G H | 5980 | 570 | | | | ORPHA | 0 | | 129 | 9968 | 602776 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | REV3L CL E G H | 5980 | 570 | | | | ORPHA | 0 | | 129 | 9968 | 602776 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1339 | 15888 | 608833 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1605 | 15888 | 608833 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1339 | 15888 | 608833 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1605 | 15888 | 608833 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 161 | 11603 | 601719 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 234 | 11603 | 601719 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 161 | 11603 | 601719 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 234 | 11603 | 601719 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 227 | 11727 | 602322 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 291 | 11727 | 602322 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 227 | 11727 | 602322 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 291 | 11727 | 602322 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1606 | 11730 | 187270 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1887 | 11730 | 187270 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1606 | 11730 | 187270 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1887 | 11730 | 187270 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 230 | 11824 | 604319 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 288 | 11824 | 604319 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 230 | 11824 | 604319 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 288 | 11824 | 604319 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TP63 CL E G H | 8626 | 69085 | | | | ORPHA | 0 | | 376 | 15979 | 603273 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TP63 CL E G H | 8626 | 69085 | | | | ORPHA | 0 | | 444 | 15979 | 603273 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | TP63 CL E G H | 8626 | 69085 | | | | ORPHA | 0 | | 376 | 15979 | 603273 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | TP63 CL E G H | 8626 | 69085 | | | | ORPHA | 0 | | 444 | 15979 | 603273 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | UROS CL E G H | 7390 | 79277 | | | | ORPHA | 0 | | 138 | 12592 | 606938 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | UROS CL E G H | 7390 | 79277 | | | | ORPHA | 0 | | 152 | 12592 | 606938 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | UROS CL E G H | 7390 | 79277 | | | | ORPHA | 0 | | 138 | 12592 | 606938 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | UROS CL E G H | 7390 | 79277 | | | | ORPHA | 0 | | 152 | 12592 | 606938 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 118 | 25792 | 613276 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 181 | 25792 | 613276 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 118 | 25792 | 613276 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 181 | 25792 | 613276 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 0 | | 416 | 12731 | 300392 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 0 | | 463 | 12731 | 300392 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 0 | | 416 | 12731 | 300392 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 0 | | 463 | 12731 | 300392 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 0 | | 158 | 12736 | 602357 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 0 | | 194 | 12736 | 602357 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 0 | | 158 | 12736 | 602357 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 0 | | 194 | 12736 | 602357 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 185 | 25522 | 612661 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 297 | 25522 | 612661 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 185 | 25522 | 612661 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 297 | 25522 | 612661 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0000498 | HP:0025610 | Posterior blepharitis | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0000498 | HP:0025609 | Anterior blepharitis | 1 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 729 | 26169 | 613129 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | CTC1 CL E G H | 80169 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 918 | 26169 | 613129 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 100 | 2718 | 600811 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | DDB2 CL E G H | 1643 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 106 | 2718 | 600811 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 396 | 2890 | 300126 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | DKC1 CL E G H | 1736 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 426 | 2890 | 300126 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 360 | 3434 | 126340 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | ERCC2 CL E G H | 2068 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 479 | 3434 | 126340 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 186 | 3435 | 133510 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | ERCC3 CL E G H | 2071 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 283 | 3435 | 133510 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 469 | 3436 | 133520 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | ERCC4 CL E G H | 2072 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 538 | 3436 | 133520 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 361 | 3437 | 133530 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | ERCC5 CL E G H | 2073 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 374 | 3437 | 133530 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | GATA1 CL E G H | 2623 | 79277 | | | | ORPHA | 0 | | 283 | 4170 | 305371 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | GATA1 CL E G H | 2623 | 79277 | | | | ORPHA | 0 | | 304 | 4170 | 305371 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 0 | | 231 | 15455 | 300294 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | MBTPS2 CL E G H | 51360 | 2273 | Fara Chlupackova syndrome | | | ORPHA | 0 | | 242 | 15455 | 300294 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 113 | 14377 | 606470 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | NHP2 CL E G H | 55651 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 136 | 14377 | 606470 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 80 | 14378 | 606471 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | NOP10 CL E G H | 55505 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 88 | 14378 | 606471 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 266 | 8609 | 604212 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | PARN CL E G H | 5073 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 356 | 8609 | 604212 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | PIGN CL E G H | 23556 | 280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | CN228166 | ORPHA | 0 | | 651 | 8967 | 606097 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | PIGN CL E G H | 23556 | 280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | CN228166 | ORPHA | 0 | | 751 | 8967 | 606097 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 0 | | 112 | 9107 | 604282 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | PLXND1 CL E G H | 23129 | 570 | | | | ORPHA | 0 | | 113 | 9107 | 604282 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | REV3L CL E G H | 5980 | 570 | | | | ORPHA | 0 | | 129 | 9968 | 602776 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1339 | 15888 | 608833 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | RTEL1 CL E G H | 51750 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1605 | 15888 | 608833 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 161 | 11603 | 601719 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TBX4 CL E G H | 9496 | 261279 | | | | ORPHA | 0 | | 234 | 11603 | 601719 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 227 | 11727 | 602322 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TERC CL E G H | 7012 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 291 | 11727 | 602322 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1606 | 11730 | 187270 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TERT CL E G H | 7015 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 1887 | 11730 | 187270 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 230 | 11824 | 604319 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TINF2 CL E G H | 26277 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 288 | 11824 | 604319 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TP63 CL E G H | 8626 | 69085 | | | | ORPHA | 0 | | 376 | 15979 | 603273 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | TP63 CL E G H | 8626 | 69085 | | | | ORPHA | 0 | | 444 | 15979 | 603273 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | UROS CL E G H | 7390 | 79277 | | | | ORPHA | 0 | | 138 | 12592 | 606938 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | UROS CL E G H | 7390 | 79277 | | | | ORPHA | 0 | | 152 | 12592 | 606938 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 118 | 25792 | 613276 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | USB1 CL E G H | 79650 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 181 | 25792 | 613276 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 0 | | 416 | 12731 | 300392 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | WAS CL E G H | 7454 | 906 | | | | ORPHA | 0 | | 463 | 12731 | 300392 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 0 | | 158 | 12736 | 602357 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | WIPF1 CL E G H | 7456 | 906 | | | | ORPHA | 0 | | 194 | 12736 | 602357 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 185 | 25522 | 612661 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | WRAP53 CL E G H | 55135 | 1775 | Chromosome 4, monosomy 4p14 p16 | | CN036837 | ORPHA | 0 | | 297 | 25522 | 612661 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 221 | 12814 | 611153 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | XPA CL E G H | 7507 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 231 | 12814 | 611153 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 518 | 12816 | 613208 |
HP:0000498 | HP:0500046 | Seborrhoeic blepharitis | 2 | XPC CL E G H | 7508 | 910 | Blepharoptosis aortic anomaly | | | ORPHA | 0 | | 545 | 12816 | 613208 |