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:0001395 | HP:0001395 | Hepatic fibrosis | 0 | ABCB4 CL E G H | 5244 | 600803 | Cholecystitis | 600803 | C0008325 | OMIM | 1 | | 539 | 45 | 171060 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | ABCD3 CL E G H | 5825 | 616278 | Bile acid synthesis defect, congenital, 5 | 616278 | C4225390 | OMIM | 1 | | 91 | 67 | 170995 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 2263 | 321 | 610860 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | ANKS6 CL E G H | 203286 | 615382 | Nephronophthisis 16 | 615382 | C3809320 | OMIM | 1 | | 361 | 26724 | 615370 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 74 | 559 | 603531 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | ASL CL E G H | 435 | 207900 | Argininosuccinate lyase deficiency | 207900 | C0268547 | OMIM | 1 | | 674 | 746 | 608310 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1525 | 29253 | 612013 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | CC2D2A CL E G H | 57545 | 612284 | Meckel syndrome type 6 | 612284 | C2676790 | OMIM | 1 | | 1525 | 29253 | 612013 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | CTNNB1 CL E G H | 1499 | 33402 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | DCDC2 CL E G H | 51473 | 616217 | Nephronophthisis 19 | 616217 | C4015542 | OMIM | 1 | | 261 | 18141 | 605755 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | GLIS3 CL E G H | 169792 | 610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | 610199 | C1857775 | OMIM | 1 | | 686 | 28510 | 610192 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | GPD1 CL E G H | 2819 | 614480 | Hypertriglyceridemia, transient infantile | 614480 | C3280953 | OMIM | 1 | | 96 | 4455 | 138420 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 139 | 4492 | 602646 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | IFT122 CL E G H | 55764 | 218330 | Cranioectodermal dysplasia 1 | 218330 | C0432235 | OMIM | 1 | | 648 | 13556 | 606045 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | IFT140 CL E G H | 9742 | 266920 | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia | 266920 | C1849437 | OMIM | 1 | | 1686 | 29077 | 614620 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | IFT172 CL E G H | 26160 | 615630 | Short-rib thoracic dysplasia 10 with or without polydactyly | 615630 | C3810175 | OMIM | 1 | | 1356 | 30391 | 607386 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | IL12A CL E G H | 3592 | 186 | | | | ORPHA | 1 | | 34 | 5969 | 161560 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | IL12RB1 CL E G H | 3594 | 186 | | | | ORPHA | 1 | | 465 | 5971 | 601604 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | INSR CL E G H | 3643 | 508 | Acroosteolysis dominant type | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | INSR CL E G H | 3643 | 246200 | Leprechaunism syndrome | 246200 | C0265344 | OMIM | 1 | | 622 | 6091 | 147670 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | IRF5 CL E G H | 3663 | 186 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | LIPA CL E G H | 3988 | 278000 | Lysosomal acid lipase deficiency | 278000 | C0043208 | OMIM | 1 | | 561 | 6617 | 613497 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | MET CL E G H | 4233 | 33402 | | | | ORPHA | 1 | | 3184 | 7029 | 164860 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | MMEL1 CL E G H | 79258 | 186 | | | | ORPHA | 1 | | 181 | 14668 | 618104 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | MPI CL E G H | 4351 | 602579 | Congenital disorder of glycosylation type 1B | 602579 | C1865145 | OMIM | 1 | | 398 | 7216 | 154550 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 57 | 7380 | 142408 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | NEK8 CL E G H | 284086 | 615415 | Renal-hepatic-pancreatic dysplasia 2 | 615415 | C3809434 | OMIM | 1 | | 279 | 13387 | 609799 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 196 | 14377 | 606470 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 102 | 14378 | 606471 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | NPHP3 CL E G H | 27031 | 604387 | Adolescent nephronophthisis | 604387 | C1858392 | OMIM | 1 | | 1106 | 7907 | 608002 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | NPHP3 CL E G H | 27031 | 208540 | Renal-hepatic-pancreatic dysplasia | 208540 | C2673883 | OMIM | 1 | | 1106 | 7907 | 608002 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | OFD1 CL E G H | 8481 | 311200 | Oral-facial-digital syndrome | 311200 | C1510460 | OMIM | 1 | | 1020 | 2567 | 300170 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | PEX1 CL E G H | 5189 | 601539 | Peroxisome biogenesis disorder 1B | 601539 | CN168921 | OMIM | 1 | | 1537 | 8850 | 602136 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | PLIN1 CL E G H | 5346 | 280356 | | | | ORPHA | 1 | | 138 | 9076 | 170290 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 745 | 9115 | 601785 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | POU2AF1 CL E G H | 5450 | 186 | | | | ORPHA | 1 | | 39 | 9211 | 601206 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | PTRH2 CL E G H | 51651 | 616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 616263 | C4015728 | OMIM | 1 | | 49 | 24265 | 608625 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | SCYL1 CL E G H | 57410 | 466794 | | | | ORPHA | 1 | | 128 | 14372 | 607982 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | SCYL1 CL E G H | 57410 | 616719 | Spinocerebellar ataxia, autosomal recessive 21 | 616719 | C4225236 | OMIM | 1 | | 128 | 14372 | 607982 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | SPIB CL E G H | 6689 | 186 | | | | ORPHA | 1 | | 34 | 11242 | 606802 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 210 | 11559 | 602063 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 1069 | 11634 | 602272 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | TMEM67 CL E G H | 91147 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | TMEM67 CL E G H | 91147 | 610688 | Joubert syndrome 6 | 610688 | C1853153 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | TMEM67 CL E G H | 91147 | 613550 | Nephronophthisis 11 | 613550 | C3150796 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | TNFSF15 CL E G H | 9966 | 186 | | | | ORPHA | 1 | | 50 | 11931 | 604052 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | TNPO3 CL E G H | 23534 | 186 | | | | ORPHA | 1 | | 575 | 17103 | 610032 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | TTC37 CL E G H | 9652 | 222470 | Trichohepatoenteric syndrome 1 | 222470 | CN034858 | OMIM | 1 | | | 23639 | 614589 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | ABCB4 CL E G H | 5244 | 600803 | Cholecystitis | 600803 | C0008325 | OMIM | 1 | | 539 | 45 | 171060 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | ABCB4 CL E G H | 5244 | 600803 | Cholecystitis | 600803 | C0008325 | OMIM | 1 | | 539 | 45 | 171060 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | ABCB4 CL E G H | 5244 | 600803 | Cholecystitis | 600803 | C0008325 | OMIM | 1 | | 539 | 45 | 171060 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | ABCD3 CL E G H | 5825 | 616278 | Bile acid synthesis defect, congenital, 5 | 616278 | C4225390 | OMIM | 1 | | 91 | 67 | 170995 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | ABCD3 CL E G H | 5825 | 616278 | Bile acid synthesis defect, congenital, 5 | 616278 | C4225390 | OMIM | 1 | | 91 | 67 | 170995 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | ABCD3 CL E G H | 5825 | 616278 | Bile acid synthesis defect, congenital, 5 | 616278 | C4225390 | OMIM | 1 | | 91 | 67 | 170995 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 2263 | 321 | 610860 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 2263 | 321 | 610860 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | AGL CL E G H | 178 | 232400 | Glycogen storage disease type III | 232400 | C0017922 | OMIM | 1 | | 2263 | 321 | 610860 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | ANKS6 CL E G H | 203286 | 615382 | Nephronophthisis 16 | 615382 | C3809320 | OMIM | 1 | | 361 | 26724 | 615370 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | ANKS6 CL E G H | 203286 | 615382 | Nephronophthisis 16 | 615382 | C3809320 | OMIM | 1 | | 361 | 26724 | 615370 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | ANKS6 CL E G H | 203286 | 615382 | Nephronophthisis 16 | 615382 | C3809320 | OMIM | 1 | | 361 | 26724 | 615370 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 74 | 559 | 603531 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 74 | 559 | 603531 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | AP1S1 CL E G H | 1174 | 609313 | Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma | 609313 | C1836330 | OMIM | 1 | | 74 | 559 | 603531 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | ASL CL E G H | 435 | 207900 | Argininosuccinate lyase deficiency | 207900 | C0268547 | OMIM | 1 | | 674 | 746 | 608310 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | ASL CL E G H | 435 | 207900 | Argininosuccinate lyase deficiency | 207900 | C0268547 | OMIM | 1 | | 674 | 746 | 608310 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | ASL CL E G H | 435 | 207900 | Argininosuccinate lyase deficiency | 207900 | C0268547 | OMIM | 1 | | 674 | 746 | 608310 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | BBS1 CL E G H | 582 | 209900 | Bardet-Biedl syndrome 1 | 209900 | C2936862 | OMIM | 1 | | 874 | 966 | 209901 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1525 | 29253 | 612013 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1525 | 29253 | 612013 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | CC2D2A CL E G H | 57545 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1525 | 29253 | 612013 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | CC2D2A CL E G H | 57545 | 612284 | Meckel syndrome type 6 | 612284 | C2676790 | OMIM | 1 | | 1525 | 29253 | 612013 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | CC2D2A CL E G H | 57545 | 612284 | Meckel syndrome type 6 | 612284 | C2676790 | OMIM | 1 | | 1525 | 29253 | 612013 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | CC2D2A CL E G H | 57545 | 612284 | Meckel syndrome type 6 | 612284 | C2676790 | OMIM | 1 | | 1525 | 29253 | 612013 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | CTNNB1 CL E G H | 1499 | 33402 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | CTNNB1 CL E G H | 1499 | 33402 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | CTNNB1 CL E G H | 1499 | 33402 | | | | ORPHA | 1 | | 624 | 2514 | 116806 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | DCDC2 CL E G H | 51473 | 616217 | Nephronophthisis 19 | 616217 | C4015542 | OMIM | 1 | | 261 | 18141 | 605755 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | DCDC2 CL E G H | 51473 | 616217 | Nephronophthisis 19 | 616217 | C4015542 | OMIM | 1 | | 261 | 18141 | 605755 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | DCDC2 CL E G H | 51473 | 616217 | Nephronophthisis 19 | 616217 | C4015542 | OMIM | 1 | | 261 | 18141 | 605755 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | FADD CL E G H | 8772 | 306550 | | | | ORPHA | 1 | | 110 | 3573 | 602457 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | GLIS3 CL E G H | 169792 | 610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | 610199 | C1857775 | OMIM | 1 | | 686 | 28510 | 610192 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | GLIS3 CL E G H | 169792 | 610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | 610199 | C1857775 | OMIM | 1 | | 686 | 28510 | 610192 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | GLIS3 CL E G H | 169792 | 610199 | Diabetes mellitus, neonatal, with congenital hypothyroidism | 610199 | C1857775 | OMIM | 1 | | 686 | 28510 | 610192 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | GPD1 CL E G H | 2819 | 614480 | Hypertriglyceridemia, transient infantile | 614480 | C3280953 | OMIM | 1 | | 96 | 4455 | 138420 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | GPD1 CL E G H | 2819 | 614480 | Hypertriglyceridemia, transient infantile | 614480 | C3280953 | OMIM | 1 | | 96 | 4455 | 138420 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | GPD1 CL E G H | 2819 | 614480 | Hypertriglyceridemia, transient infantile | 614480 | C3280953 | OMIM | 1 | | 96 | 4455 | 138420 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 139 | 4492 | 602646 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 139 | 4492 | 602646 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | GPR35 CL E G H | 2859 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 139 | 4492 | 602646 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | IFT122 CL E G H | 55764 | 218330 | Cranioectodermal dysplasia 1 | 218330 | C0432235 | OMIM | 1 | | 648 | 13556 | 606045 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | IFT122 CL E G H | 55764 | 218330 | Cranioectodermal dysplasia 1 | 218330 | C0432235 | OMIM | 1 | | 648 | 13556 | 606045 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | IFT122 CL E G H | 55764 | 218330 | Cranioectodermal dysplasia 1 | 218330 | C0432235 | OMIM | 1 | | 648 | 13556 | 606045 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | IFT140 CL E G H | 9742 | 266920 | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia | 266920 | C1849437 | OMIM | 1 | | 1686 | 29077 | 614620 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | IFT140 CL E G H | 9742 | 266920 | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia | 266920 | C1849437 | OMIM | 1 | | 1686 | 29077 | 614620 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | IFT140 CL E G H | 9742 | 266920 | Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia | 266920 | C1849437 | OMIM | 1 | | 1686 | 29077 | 614620 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | IFT172 CL E G H | 26160 | 615630 | Short-rib thoracic dysplasia 10 with or without polydactyly | 615630 | C3810175 | OMIM | 1 | | 1356 | 30391 | 607386 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | IFT172 CL E G H | 26160 | 615630 | Short-rib thoracic dysplasia 10 with or without polydactyly | 615630 | C3810175 | OMIM | 1 | | 1356 | 30391 | 607386 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | IFT172 CL E G H | 26160 | 615630 | Short-rib thoracic dysplasia 10 with or without polydactyly | 615630 | C3810175 | OMIM | 1 | | 1356 | 30391 | 607386 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | IL12A CL E G H | 3592 | 186 | | | | ORPHA | 1 | | 34 | 5969 | 161560 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | IL12A CL E G H | 3592 | 186 | | | | ORPHA | 1 | | 34 | 5969 | 161560 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | IL12A CL E G H | 3592 | 186 | | | | ORPHA | 1 | | 34 | 5969 | 161560 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | IL12RB1 CL E G H | 3594 | 186 | | | | ORPHA | 1 | | 465 | 5971 | 601604 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | IL12RB1 CL E G H | 3594 | 186 | | | | ORPHA | 1 | | 465 | 5971 | 601604 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | IL12RB1 CL E G H | 3594 | 186 | | | | ORPHA | 1 | | 465 | 5971 | 601604 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | INPP5E CL E G H | 56623 | 213300 | Joubert syndrome 1 | 213300 | CN119531 | OMIM | 1 | | 782 | 21474 | 613037 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | INSR CL E G H | 3643 | 508 | Acroosteolysis dominant type | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | INSR CL E G H | 3643 | 508 | Acroosteolysis dominant type | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | INSR CL E G H | 3643 | 508 | Acroosteolysis dominant type | | | ORPHA | 1 | | 622 | 6091 | 147670 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | INSR CL E G H | 3643 | 246200 | Leprechaunism syndrome | 246200 | C0265344 | OMIM | 1 | | 622 | 6091 | 147670 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | INSR CL E G H | 3643 | 246200 | Leprechaunism syndrome | 246200 | C0265344 | OMIM | 1 | | 622 | 6091 | 147670 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | INSR CL E G H | 3643 | 246200 | Leprechaunism syndrome | 246200 | C0265344 | OMIM | 1 | | 622 | 6091 | 147670 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | IRF5 CL E G H | 3663 | 186 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | IRF5 CL E G H | 3663 | 186 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | IRF5 CL E G H | 3663 | 186 | | | | ORPHA | 1 | | 65 | 6120 | 607218 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | LIPA CL E G H | 3988 | 278000 | Lysosomal acid lipase deficiency | 278000 | C0043208 | OMIM | 1 | | 561 | 6617 | 613497 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | LIPA CL E G H | 3988 | 278000 | Lysosomal acid lipase deficiency | 278000 | C0043208 | OMIM | 1 | | 561 | 6617 | 613497 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | LIPA CL E G H | 3988 | 278000 | Lysosomal acid lipase deficiency | 278000 | C0043208 | OMIM | 1 | | 561 | 6617 | 613497 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | MET CL E G H | 4233 | 33402 | | | | ORPHA | 1 | | 3184 | 7029 | 164860 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | MET CL E G H | 4233 | 33402 | | | | ORPHA | 1 | | 3184 | 7029 | 164860 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | MET CL E G H | 4233 | 33402 | | | | ORPHA | 1 | | 3184 | 7029 | 164860 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | MMEL1 CL E G H | 79258 | 186 | | | | ORPHA | 1 | | 181 | 14668 | 618104 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | MMEL1 CL E G H | 79258 | 186 | | | | ORPHA | 1 | | 181 | 14668 | 618104 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | MMEL1 CL E G H | 79258 | 186 | | | | ORPHA | 1 | | 181 | 14668 | 618104 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | MPI CL E G H | 4351 | 602579 | Congenital disorder of glycosylation type 1B | 602579 | C1865145 | OMIM | 1 | | 398 | 7216 | 154550 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | MPI CL E G H | 4351 | 602579 | Congenital disorder of glycosylation type 1B | 602579 | C1865145 | OMIM | 1 | | 398 | 7216 | 154550 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | MPI CL E G H | 4351 | 602579 | Congenital disorder of glycosylation type 1B | 602579 | C1865145 | OMIM | 1 | | 398 | 7216 | 154550 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 57 | 7380 | 142408 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 57 | 7380 | 142408 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | MST1 CL E G H | 4485 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 57 | 7380 | 142408 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | NEK8 CL E G H | 284086 | 615415 | Renal-hepatic-pancreatic dysplasia 2 | 615415 | C3809434 | OMIM | 1 | | 279 | 13387 | 609799 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | NEK8 CL E G H | 284086 | 615415 | Renal-hepatic-pancreatic dysplasia 2 | 615415 | C3809434 | OMIM | 1 | | 279 | 13387 | 609799 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | NEK8 CL E G H | 284086 | 615415 | Renal-hepatic-pancreatic dysplasia 2 | 615415 | C3809434 | OMIM | 1 | | 279 | 13387 | 609799 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 196 | 14377 | 606470 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 196 | 14377 | 606470 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | NHP2 CL E G H | 55651 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 196 | 14377 | 606470 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 102 | 14378 | 606471 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 102 | 14378 | 606471 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | NOP10 CL E G H | 55505 | 224230 | Dyskeratosis congenita autosomal recessive 1 | 224230 | C1857144 | OMIM | 1 | | 102 | 14378 | 606471 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | NPHP3 CL E G H | 27031 | 604387 | Adolescent nephronophthisis | 604387 | C1858392 | OMIM | 1 | | 1106 | 7907 | 608002 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | NPHP3 CL E G H | 27031 | 604387 | Adolescent nephronophthisis | 604387 | C1858392 | OMIM | 1 | | 1106 | 7907 | 608002 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | NPHP3 CL E G H | 27031 | 604387 | Adolescent nephronophthisis | 604387 | C1858392 | OMIM | 1 | | 1106 | 7907 | 608002 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | NPHP3 CL E G H | 27031 | 208540 | Renal-hepatic-pancreatic dysplasia | 208540 | C2673883 | OMIM | 1 | | 1106 | 7907 | 608002 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | NPHP3 CL E G H | 27031 | 208540 | Renal-hepatic-pancreatic dysplasia | 208540 | C2673883 | OMIM | 1 | | 1106 | 7907 | 608002 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | NPHP3 CL E G H | 27031 | 208540 | Renal-hepatic-pancreatic dysplasia | 208540 | C2673883 | OMIM | 1 | | 1106 | 7907 | 608002 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | OFD1 CL E G H | 8481 | 311200 | Oral-facial-digital syndrome | 311200 | C1510460 | OMIM | 1 | | 1020 | 2567 | 300170 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | OFD1 CL E G H | 8481 | 311200 | Oral-facial-digital syndrome | 311200 | C1510460 | OMIM | 1 | | 1020 | 2567 | 300170 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | OFD1 CL E G H | 8481 | 311200 | Oral-facial-digital syndrome | 311200 | C1510460 | OMIM | 1 | | 1020 | 2567 | 300170 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | PEX1 CL E G H | 5189 | 601539 | Peroxisome biogenesis disorder 1B | 601539 | CN168921 | OMIM | 1 | | 1537 | 8850 | 602136 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | PEX1 CL E G H | 5189 | 601539 | Peroxisome biogenesis disorder 1B | 601539 | CN168921 | OMIM | 1 | | 1537 | 8850 | 602136 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | PEX1 CL E G H | 5189 | 601539 | Peroxisome biogenesis disorder 1B | 601539 | CN168921 | OMIM | 1 | | 1537 | 8850 | 602136 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | PLIN1 CL E G H | 5346 | 280356 | | | | ORPHA | 1 | | 138 | 9076 | 170290 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | PLIN1 CL E G H | 5346 | 280356 | | | | ORPHA | 1 | | 138 | 9076 | 170290 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | PLIN1 CL E G H | 5346 | 280356 | | | | ORPHA | 1 | | 138 | 9076 | 170290 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 745 | 9115 | 601785 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 745 | 9115 | 601785 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | PMM2 CL E G H | 5373 | 212065 | Carbohydrate-deficient glycoprotein syndrome type I | 212065 | C0349653 | OMIM | 1 | | 745 | 9115 | 601785 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | POU2AF1 CL E G H | 5450 | 186 | | | | ORPHA | 1 | | 39 | 9211 | 601206 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | POU2AF1 CL E G H | 5450 | 186 | | | | ORPHA | 1 | | 39 | 9211 | 601206 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | POU2AF1 CL E G H | 5450 | 186 | | | | ORPHA | 1 | | 39 | 9211 | 601206 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | PTRH2 CL E G H | 51651 | 616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 616263 | C4015728 | OMIM | 1 | | 49 | 24265 | 608625 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | PTRH2 CL E G H | 51651 | 616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 616263 | C4015728 | OMIM | 1 | | 49 | 24265 | 608625 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | PTRH2 CL E G H | 51651 | 616263 | Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset | 616263 | C4015728 | OMIM | 1 | | 49 | 24265 | 608625 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | RPGRIP1L CL E G H | 23322 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 1494 | 29168 | 610937 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | SCYL1 CL E G H | 57410 | 466794 | | | | ORPHA | 1 | | 128 | 14372 | 607982 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | SCYL1 CL E G H | 57410 | 466794 | | | | ORPHA | 1 | | 128 | 14372 | 607982 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | SCYL1 CL E G H | 57410 | 466794 | | | | ORPHA | 1 | | 128 | 14372 | 607982 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | SCYL1 CL E G H | 57410 | 616719 | Spinocerebellar ataxia, autosomal recessive 21 | 616719 | C4225236 | OMIM | 1 | | 128 | 14372 | 607982 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | SCYL1 CL E G H | 57410 | 616719 | Spinocerebellar ataxia, autosomal recessive 21 | 616719 | C4225236 | OMIM | 1 | | 128 | 14372 | 607982 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | SCYL1 CL E G H | 57410 | 616719 | Spinocerebellar ataxia, autosomal recessive 21 | 616719 | C4225236 | OMIM | 1 | | 128 | 14372 | 607982 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | SPIB CL E G H | 6689 | 186 | | | | ORPHA | 1 | | 34 | 11242 | 606802 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | SPIB CL E G H | 6689 | 186 | | | | ORPHA | 1 | | 34 | 11242 | 606802 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | SPIB CL E G H | 6689 | 186 | | | | ORPHA | 1 | | 34 | 11242 | 606802 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 210 | 11559 | 602063 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 210 | 11559 | 602063 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | TALDO1 CL E G H | 6888 | 606003 | Deficiency of transaldolase | 606003 | C1291329 | OMIM | 1 | | 210 | 11559 | 602063 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 1069 | 11634 | 602272 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 1069 | 11634 | 602272 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | TCF4 CL E G H | 6925 | 171 | Le Marec Bracq Picaud syndrome | | | ORPHA | 1 | | 1069 | 11634 | 602272 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | TMEM67 CL E G H | 91147 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | TMEM67 CL E G H | 91147 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | TMEM67 CL E G H | 91147 | 216360 | COACH syndrome | 216360 | C1857662 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | TMEM67 CL E G H | 91147 | 610688 | Joubert syndrome 6 | 610688 | C1853153 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | TMEM67 CL E G H | 91147 | 610688 | Joubert syndrome 6 | 610688 | C1853153 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | TMEM67 CL E G H | 91147 | 610688 | Joubert syndrome 6 | 610688 | C1853153 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | TMEM67 CL E G H | 91147 | 607361 | Meckel syndrome type 3 | 607361 | C1846357 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | TMEM67 CL E G H | 91147 | 613550 | Nephronophthisis 11 | 613550 | C3150796 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | TMEM67 CL E G H | 91147 | 613550 | Nephronophthisis 11 | 613550 | C3150796 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | TMEM67 CL E G H | 91147 | 613550 | Nephronophthisis 11 | 613550 | C3150796 | OMIM | 1 | | 928 | 28396 | 609884 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | TNFSF15 CL E G H | 9966 | 186 | | | | ORPHA | 1 | | 50 | 11931 | 604052 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | TNFSF15 CL E G H | 9966 | 186 | | | | ORPHA | 1 | | 50 | 11931 | 604052 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | TNFSF15 CL E G H | 9966 | 186 | | | | ORPHA | 1 | | 50 | 11931 | 604052 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | TNPO3 CL E G H | 23534 | 186 | | | | ORPHA | 1 | | 575 | 17103 | 610032 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | TNPO3 CL E G H | 23534 | 186 | | | | ORPHA | 1 | | 575 | 17103 | 610032 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | TNPO3 CL E G H | 23534 | 186 | | | | ORPHA | 1 | | 575 | 17103 | 610032 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | TTC37 CL E G H | 9652 | 222470 | Trichohepatoenteric syndrome 1 | 222470 | CN034858 | OMIM | 1 | | | 23639 | 614589 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | TTC37 CL E G H | 9652 | 222470 | Trichohepatoenteric syndrome 1 | 222470 | CN034858 | OMIM | 1 | | | 23639 | 614589 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | TTC37 CL E G H | 9652 | 222470 | Trichohepatoenteric syndrome 1 | 222470 | CN034858 | OMIM | 1 | | | 23639 | 614589 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | ARL6 CL E G H | 84100 | 110 | | | | ORPHA | 0 | | 201 | 13210 | 608845 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | BBIP1 CL E G H | 92482 | 110 | | | | ORPHA | 0 | | 98 | 28093 | 613605 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | BBS1 CL E G H | 582 | 110 | | | | ORPHA | 0 | | 874 | 966 | 209901 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | BBS10 CL E G H | 79738 | 110 | | | | ORPHA | 0 | | 756 | 26291 | 610148 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | BBS12 CL E G H | 166379 | 110 | | | | ORPHA | 0 | | 634 | 26648 | 610683 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | BBS2 CL E G H | 583 | 110 | | | | ORPHA | 0 | | 894 | 967 | 606151 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | BBS4 CL E G H | 585 | 110 | | | | ORPHA | 0 | | 563 | 969 | 600374 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | BBS5 CL E G H | 129880 | 110 | | | | ORPHA | 0 | | 288 | 970 | 603650 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | BBS7 CL E G H | 55212 | 110 | | | | ORPHA | 0 | | 506 | 18758 | 607590 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | BBS9 CL E G H | 27241 | 110 | | | | ORPHA | 0 | | 775 | 30000 | 607968 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | C8orf37 CL E G H | 157657 | 110 | | | | ORPHA | 0 | | | 27232 | 614477 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | CEP290 CL E G H | 80184 | 110 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | DLL4 CL E G H | 54567 | 616589 | Adams-Oliver syndrome 6 | 616589 | C4225271 | OMIM | 0 | | 212 | 2910 | 605185 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | IFT172 CL E G H | 26160 | 110 | | | | ORPHA | 0 | | 1356 | 30391 | 607386 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | IFT27 CL E G H | 11020 | 110 | | | | ORPHA | 0 | | 161 | 18626 | 615870 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | LZTFL1 CL E G H | 54585 | 110 | | | | ORPHA | 0 | | 162 | 6741 | 606568 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | MKKS CL E G H | 8195 | 110 | | | | ORPHA | 0 | | 432 | 7108 | 604896 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | MKS1 CL E G H | 54903 | 110 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | NEK1 CL E G H | 4750 | 263520 | Short rib-polydactyly syndrome, Majewski type | 263520 | C0024507 | OMIM | 0 | | 679 | 7744 | 604588 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | NPHP1 CL E G H | 4867 | 110 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | SDCCAG8 CL E G H | 10806 | 110 | | | | ORPHA | 0 | | 651 | 10671 | 613524 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | TRAF3IP1 CL E G H | 26146 | 616629 | Senior-Loken syndrome 9 | 616629 | C4225263 | OMIM | 0 | | 609 | 17861 | 607380 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | TRIM32 CL E G H | 22954 | 110 | | | | ORPHA | 0 | | 627 | 16380 | 602290 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | TTC8 CL E G H | 123016 | 110 | | | | ORPHA | 0 | | 427 | 20087 | 608132 |
HP:0001395 | HP:0001395 | Hepatic fibrosis | 0 | WDPCP CL E G H | 51057 | 110 | | | | ORPHA | 0 | | 587 | 28027 | 613580 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | ARL6 CL E G H | 84100 | 110 | | | | ORPHA | 0 | | 201 | 13210 | 608845 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | ARL6 CL E G H | 84100 | 110 | | | | ORPHA | 0 | | 201 | 13210 | 608845 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | ARL6 CL E G H | 84100 | 110 | | | | ORPHA | 0 | | 201 | 13210 | 608845 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | BBIP1 CL E G H | 92482 | 110 | | | | ORPHA | 0 | | 98 | 28093 | 613605 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | BBIP1 CL E G H | 92482 | 110 | | | | ORPHA | 0 | | 98 | 28093 | 613605 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | BBIP1 CL E G H | 92482 | 110 | | | | ORPHA | 0 | | 98 | 28093 | 613605 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | BBS1 CL E G H | 582 | 110 | | | | ORPHA | 0 | | 874 | 966 | 209901 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | BBS1 CL E G H | 582 | 110 | | | | ORPHA | 0 | | 874 | 966 | 209901 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | BBS1 CL E G H | 582 | 110 | | | | ORPHA | 0 | | 874 | 966 | 209901 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | BBS10 CL E G H | 79738 | 110 | | | | ORPHA | 0 | | 756 | 26291 | 610148 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | BBS10 CL E G H | 79738 | 110 | | | | ORPHA | 0 | | 756 | 26291 | 610148 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | BBS10 CL E G H | 79738 | 110 | | | | ORPHA | 0 | | 756 | 26291 | 610148 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | BBS12 CL E G H | 166379 | 110 | | | | ORPHA | 0 | | 634 | 26648 | 610683 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | BBS12 CL E G H | 166379 | 110 | | | | ORPHA | 0 | | 634 | 26648 | 610683 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | BBS12 CL E G H | 166379 | 110 | | | | ORPHA | 0 | | 634 | 26648 | 610683 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | BBS2 CL E G H | 583 | 110 | | | | ORPHA | 0 | | 894 | 967 | 606151 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | BBS2 CL E G H | 583 | 110 | | | | ORPHA | 0 | | 894 | 967 | 606151 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | BBS2 CL E G H | 583 | 110 | | | | ORPHA | 0 | | 894 | 967 | 606151 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | BBS4 CL E G H | 585 | 110 | | | | ORPHA | 0 | | 563 | 969 | 600374 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | BBS4 CL E G H | 585 | 110 | | | | ORPHA | 0 | | 563 | 969 | 600374 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | BBS4 CL E G H | 585 | 110 | | | | ORPHA | 0 | | 563 | 969 | 600374 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | BBS5 CL E G H | 129880 | 110 | | | | ORPHA | 0 | | 288 | 970 | 603650 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | BBS5 CL E G H | 129880 | 110 | | | | ORPHA | 0 | | 288 | 970 | 603650 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | BBS5 CL E G H | 129880 | 110 | | | | ORPHA | 0 | | 288 | 970 | 603650 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | BBS7 CL E G H | 55212 | 110 | | | | ORPHA | 0 | | 506 | 18758 | 607590 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | BBS7 CL E G H | 55212 | 110 | | | | ORPHA | 0 | | 506 | 18758 | 607590 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | BBS7 CL E G H | 55212 | 110 | | | | ORPHA | 0 | | 506 | 18758 | 607590 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | BBS9 CL E G H | 27241 | 110 | | | | ORPHA | 0 | | 775 | 30000 | 607968 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | BBS9 CL E G H | 27241 | 110 | | | | ORPHA | 0 | | 775 | 30000 | 607968 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | BBS9 CL E G H | 27241 | 110 | | | | ORPHA | 0 | | 775 | 30000 | 607968 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | C8orf37 CL E G H | 157657 | 110 | | | | ORPHA | 0 | | | 27232 | 614477 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | C8orf37 CL E G H | 157657 | 110 | | | | ORPHA | 0 | | | 27232 | 614477 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | C8orf37 CL E G H | 157657 | 110 | | | | ORPHA | 0 | | | 27232 | 614477 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | CEP290 CL E G H | 80184 | 110 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | CEP290 CL E G H | 80184 | 110 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | CEP290 CL E G H | 80184 | 110 | | | | ORPHA | 0 | | 2944 | 29021 | 610142 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | DLL4 CL E G H | 54567 | 616589 | Adams-Oliver syndrome 6 | 616589 | C4225271 | OMIM | 0 | | 212 | 2910 | 605185 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | DLL4 CL E G H | 54567 | 616589 | Adams-Oliver syndrome 6 | 616589 | C4225271 | OMIM | 0 | | 212 | 2910 | 605185 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | DLL4 CL E G H | 54567 | 616589 | Adams-Oliver syndrome 6 | 616589 | C4225271 | OMIM | 0 | | 212 | 2910 | 605185 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | IFT172 CL E G H | 26160 | 110 | | | | ORPHA | 0 | | 1356 | 30391 | 607386 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | IFT172 CL E G H | 26160 | 110 | | | | ORPHA | 0 | | 1356 | 30391 | 607386 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | IFT172 CL E G H | 26160 | 110 | | | | ORPHA | 0 | | 1356 | 30391 | 607386 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | IFT27 CL E G H | 11020 | 110 | | | | ORPHA | 0 | | 161 | 18626 | 615870 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | IFT27 CL E G H | 11020 | 110 | | | | ORPHA | 0 | | 161 | 18626 | 615870 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | IFT27 CL E G H | 11020 | 110 | | | | ORPHA | 0 | | 161 | 18626 | 615870 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | LZTFL1 CL E G H | 54585 | 110 | | | | ORPHA | 0 | | 162 | 6741 | 606568 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | LZTFL1 CL E G H | 54585 | 110 | | | | ORPHA | 0 | | 162 | 6741 | 606568 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | LZTFL1 CL E G H | 54585 | 110 | | | | ORPHA | 0 | | 162 | 6741 | 606568 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | MKKS CL E G H | 8195 | 110 | | | | ORPHA | 0 | | 432 | 7108 | 604896 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | MKKS CL E G H | 8195 | 110 | | | | ORPHA | 0 | | 432 | 7108 | 604896 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | MKKS CL E G H | 8195 | 110 | | | | ORPHA | 0 | | 432 | 7108 | 604896 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | MKS1 CL E G H | 54903 | 110 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | MKS1 CL E G H | 54903 | 110 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | MKS1 CL E G H | 54903 | 110 | | | | ORPHA | 0 | | 839 | 7121 | 609883 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | NEK1 CL E G H | 4750 | 263520 | Short rib-polydactyly syndrome, Majewski type | 263520 | C0024507 | OMIM | 0 | | 679 | 7744 | 604588 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | NEK1 CL E G H | 4750 | 263520 | Short rib-polydactyly syndrome, Majewski type | 263520 | C0024507 | OMIM | 0 | | 679 | 7744 | 604588 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | NEK1 CL E G H | 4750 | 263520 | Short rib-polydactyly syndrome, Majewski type | 263520 | C0024507 | OMIM | 0 | | 679 | 7744 | 604588 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | NPHP1 CL E G H | 4867 | 110 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | NPHP1 CL E G H | 4867 | 110 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | NPHP1 CL E G H | 4867 | 110 | | | | ORPHA | 0 | | 815 | 7905 | 607100 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | SDCCAG8 CL E G H | 10806 | 110 | | | | ORPHA | 0 | | 651 | 10671 | 613524 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | SDCCAG8 CL E G H | 10806 | 110 | | | | ORPHA | 0 | | 651 | 10671 | 613524 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | SDCCAG8 CL E G H | 10806 | 110 | | | | ORPHA | 0 | | 651 | 10671 | 613524 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | TRAF3IP1 CL E G H | 26146 | 616629 | Senior-Loken syndrome 9 | 616629 | C4225263 | OMIM | 0 | | 609 | 17861 | 607380 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | TRAF3IP1 CL E G H | 26146 | 616629 | Senior-Loken syndrome 9 | 616629 | C4225263 | OMIM | 0 | | 609 | 17861 | 607380 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | TRAF3IP1 CL E G H | 26146 | 616629 | Senior-Loken syndrome 9 | 616629 | C4225263 | OMIM | 0 | | 609 | 17861 | 607380 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | TRIM32 CL E G H | 22954 | 110 | | | | ORPHA | 0 | | 627 | 16380 | 602290 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | TRIM32 CL E G H | 22954 | 110 | | | | ORPHA | 0 | | 627 | 16380 | 602290 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | TRIM32 CL E G H | 22954 | 110 | | | | ORPHA | 0 | | 627 | 16380 | 602290 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | TTC8 CL E G H | 123016 | 110 | | | | ORPHA | 0 | | 427 | 20087 | 608132 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | TTC8 CL E G H | 123016 | 110 | | | | ORPHA | 0 | | 427 | 20087 | 608132 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | TTC8 CL E G H | 123016 | 110 | | | | ORPHA | 0 | | 427 | 20087 | 608132 |
HP:0001395 | HP:0002612 | Congenital hepatic fibrosis | 1 | WDPCP CL E G H | 51057 | 110 | | | | ORPHA | 0 | | 587 | 28027 | 613580 |
HP:0001395 | HP:0001405 | Periportal fibrosis | 1 | WDPCP CL E G H | 51057 | 110 | | | | ORPHA | 0 | | 587 | 28027 | 613580 |
HP:0001395 | HP:0012852 | Hepatic bridging fibrosis | 1 | WDPCP CL E G H | 51057 | 110 | | | | ORPHA | 0 | | 587 | 28027 | 613580 |