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ONTOLOGY REPORT - ANNOTATIONS


Term:abnormal retinal pigment epithelium morphology
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Accession:MP:0005201 term browser browse the term
Definition:any structural anomaly in the epithelial layer of the retina composed of cells containing pigment granules
Synonyms:exact_synonym: abnormal RPE morphology;   abnormal pigmented retinal epithelium morphology


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abnormal retinal pigment epithelium morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP-binding cassette, sub-family A (ABC1), member 4 JBrowse link 3 122,043,891 122,180,070 RGD:5509061
G Abcb5 ATP-binding cassette, sub-family B (MDR/TAP), member 5 JBrowse link 12 118,867,486 118,966,434 RGD:5509061
G Adam9 a disintegrin and metallopeptidase domain 9 (meltrin gamma) JBrowse link 8 24,949,611 25,017,040 RGD:5509061
G Adamtsl4 ADAMTS-like 4 JBrowse link 3 95,676,201 95,687,927 RGD:5509061
G Apob apolipoprotein B JBrowse link 12 7,977,629 8,016,839 RGD:5509061
G Apoe apolipoprotein E JBrowse link 7 19,696,244 19,701,310 RGD:5509061
G Atp8a2 ATPase, aminophospholipid transporter-like, class I, type 8A, member 2 JBrowse link 14 59,647,531 60,086,914 RGD:5509061
G Bbs4 Bardet-Biedl syndrome 4 (human) JBrowse link 9 59,321,966 59,353,508 RGD:5509061
G Best1 bestrophin 1 JBrowse link 19 9,985,172 10,001,633 RGD:5509061
G Bloc1s5 biogenesis of lysosomal organelles complex-1, subunit 5, muted JBrowse link 13 38,602,698 38,637,117 RGD:5509061
G Bmp7 bone morphogenetic protein 7 JBrowse link 2 172,868,012 172,940,321 RGD:5509061
G Bmpr1a bone morphogenetic protein receptor, type 1A JBrowse link 14 34,411,061 34,503,336 RGD:5509061
G Bmpr1b bone morphogenetic protein receptor, type 1B JBrowse link 3 141,837,135 142,169,585 RGD:5509061
G C1qtnf5 C1q and tumor necrosis factor related protein 5 JBrowse link 9 44,101,770 44,109,187 RGD:5509061
G Casp3 caspase 3 JBrowse link 8 46,617,291 46,639,698 RGD:5509061
G Ccl2 chemokine (C-C motif) ligand 2 JBrowse link 11 82,035,577 82,037,452 RGD:5509061
G Ccr2 chemokine (C-C motif) receptor 2 JBrowse link 9 124,101,918 124,109,140 RGD:5509061
G Cd46 CD46 antigen, complement regulatory protein JBrowse link 1 195,038,971 195,098,784 RGD:5509061
G Cdk20 cyclin-dependent kinase 20 JBrowse link 13 64,432,319 64,439,722 RGD:5509061
G Cdkn1b cyclin-dependent kinase inhibitor 1B JBrowse link 6 134,920,401 134,925,525 RGD:5509061
G Cep290 centrosomal protein 290 JBrowse link 10 100,487,548 100,575,671 RGD:5509061
G Cfh complement component factor h JBrowse link 1 140,085,855 140,183,411 RGD:5509061
G Chm choroidermia (RAB escort protein 1) JBrowse link X 113,040,592 113,185,539 RGD:5509061
G Chrna7 cholinergic receptor, nicotinic, alpha polypeptide 7 JBrowse link 7 63,098,692 63,212,526 RGD:5509061
G Clcn2 chloride channel, voltage-sensitive 2 JBrowse link 16 20,702,435 20,717,746 RGD:5509061
G Clcn7 chloride channel, voltage-sensitive 7 JBrowse link 17 25,133,378 25,162,103 RGD:5509061
G Cln8 ceroid-lipofuscinosis, neuronal 8 JBrowse link 8 14,881,335 14,901,720 RGD:5509061
G Cngb1 cyclic nucleotide gated channel beta 1 JBrowse link 8 95,239,043 95,306,585 RGD:5509061
G Cp ceruloplasmin JBrowse link 3 19,956,933 20,009,750 RGD:5509061
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated JBrowse link 1 139,176,649 139,379,316 RGD:5509061
G Cryba1 crystallin, beta A1 JBrowse link 11 77,718,614 77,725,293 RGD:5509061
G Ctnna1 catenin (cadherin associated protein), alpha 1 JBrowse link 18 35,118,902 35,254,776 RGD:5509061
G Cx3cr1 chemokine (C-X3-C motif) receptor 1 JBrowse link 9 120,048,683 120,068,296 RGD:5509061
G Dtnbp1 dystrobrevin binding protein 1 JBrowse link 13 44,922,079 45,002,096 RGD:5509061
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 JBrowse link 11 28,853,154 28,926,743 RGD:5509061
G Elovl4 elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4 JBrowse link 9 83,778,692 83,806,305 RGD:5509061
G Foxg1 forkhead box G1 JBrowse link 12 49,382,883 49,386,867 RGD:5509061
G Gas1 growth arrest specific 1 JBrowse link 13 60,174,405 60,177,535 RGD:5509061
G Gnpat glyceronephosphate O-acyltransferase JBrowse link 8 124,863,033 124,890,057 RGD:5509061
G Gpr143 G protein-coupled receptor 143 JBrowse link X 152,781,921 152,808,651 RGD:5509061
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano JBrowse link 6 113,067,428 113,077,244 RGD:5509061
G Heph hephaestin JBrowse link X 96,455,436 96,574,485 RGD:5509061
G Hps4 HPS4, biogenesis of lysosomal organelles complex 3 subunit 2 JBrowse link 5 112,342,983 112,378,424 RGD:5509061
G Hps5 HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 JBrowse link 7 46,760,466 46,796,065 RGD:5509061
G Hs2st1 heparan sulfate 2-O-sulfotransferase 1 JBrowse link 3 144,429,701 144,570,216 RGD:5509061
G Jak3 Janus kinase 3 JBrowse link 8 71,676,383 71,690,577 RGD:5509061
G Ldlr low density lipoprotein receptor JBrowse link 9 21,723,576 21,749,919 RGD:5509061
G Lrp2 low density lipoprotein receptor-related protein 2 JBrowse link 2 69,424,335 69,586,029 RGD:5509061
G Lrp5 low density lipoprotein receptor-related protein 5 JBrowse link 19 3,584,825 3,686,585 RGD:5509061
G Lyst lysosomal trafficking regulator JBrowse link 13 13,590,311 13,778,803 RGD:5509061
G Mab21l1 mab-21-like 1 JBrowse link 3 55,782,510 55,785,287 RGD:5509061
G Mab21l2 mab-21-like 2 JBrowse link 3 86,546,050 86,548,283 RGD:5509061
G Mdm1 transformed mouse 3T3 cell double minute 1 JBrowse link 10 118,141,540 118,168,999 RGD:5509061
G Mertk MER proto-oncogene tyrosine kinase JBrowse link 2 128,698,915 128,803,162 RGD:5509061
G Mfrp membrane frizzled-related protein JBrowse link 9 44,101,770 44,109,187 RGD:5509061
G Mitf melanogenesis associated transcription factor JBrowse link 6 97,807,002 98,021,360 RGD:5509061
G Msx2 msh homeobox 2 JBrowse link 13 53,466,881 53,472,780 RGD:5509061
G Myo7a myosin VIIA JBrowse link 7 98,051,054 98,119,522 RGD:5509061
G Naglu alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB) JBrowse link 11 101,070,090 101,077,672 RGD:5509061
G Nr2f1 nuclear receptor subfamily 2, group F, member 1 JBrowse link 13 78,188,971 78,198,873 RGD:5509061
G Nr2f2 nuclear receptor subfamily 2, group F, member 2 JBrowse link 7 70,351,946 70,366,746 RGD:5509061
G Nrl neural retina leucine zipper gene JBrowse link 14 55,518,978 55,524,981 RGD:5509061
G Nuak2 NUAK family, SNF1-like kinase, 2 JBrowse link 1 132,316,125 132,333,488 RGD:5509061
G Oat ornithine aminotransferase JBrowse link 7 132,557,475 132,576,398 RGD:5509061
G Otx2 orthodenticle homeobox 2 JBrowse link 14 48,656,781 48,667,644 RGD:5509061
G Pax2 paired box 2 JBrowse link 19 44,746,601 44,838,269 RGD:5509061
G Pax6 paired box 6 JBrowse link 2 105,668,896 105,698,410 RGD:5509061
G Pcare photoreceptor cilium actin regulator JBrowse link 17 71,743,555 71,752,905 RGD:5509061
G Pdgfb platelet derived growth factor, B polypeptide JBrowse link 15 79,995,865 80,024,614 RGD:5509061
G Phactr4 phosphatase and actin regulator 4 JBrowse link 4 132,355,922 132,422,446 RGD:5509061
G Pknox1 Pbx/knotted 1 homeobox JBrowse link 17 31,564,722 31,607,693 RGD:5509061
G Ppt2 palmitoyl-protein thioesterase 2 JBrowse link 17 34,616,662 34,638,022 RGD:5509061
G Prom1 prominin 1 JBrowse link 5 43,993,621 44,102,047 RGD:5509061
G Prpf3 pre-mRNA processing factor 3 JBrowse link 3 95,830,124 95,855,885 RGD:5509061
G Prpf31 pre-mRNA processing factor 31 JBrowse link 7 3,629,985 3,642,485 RGD:5509061
G Prpf8 pre-mRNA processing factor 8 JBrowse link 11 75,486,777 75,509,447 RGD:5509061
G Prph2 peripherin 2 JBrowse link 17 46,910,478 46,924,933 RGD:5509061
G Rbp1 retinol binding protein 1, cellular JBrowse link 9 98,422,961 98,446,551 RGD:5509061
G Rdh8 retinol dehydrogenase 8 JBrowse link 9 20,818,494 20,828,058 RGD:5509061
G Rho rhodopsin JBrowse link 6 115,926,754 115,940,038 RGD:5509061
G Rpe65 retinal pigment epithelium 65 JBrowse link 3 159,599,075 159,625,307 RGD:5509061
G Rs1 retinoschisis (X-linked, juvenile) 1 (human) JBrowse link X 160,765,819 160,799,663 RGD:5509061
G Rxra retinoid X receptor alpha JBrowse link 2 27,676,445 27,763,319 RGD:5509061
G Sema4a sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A JBrowse link 3 88,435,959 88,461,240 RGD:5509061
G Serpinc1 serine (or cysteine) peptidase inhibitor, clade C (antithrombin), member 1 JBrowse link 1 160,978,606 161,003,015 RGD:5509061
G Smoc1 SPARC related modular calcium binding 1 JBrowse link 12 81,026,808 81,186,414 RGD:5509061
G Sod2 superoxide dismutase 2, mitochondrial JBrowse link 17 13,007,839 13,018,119 RGD:5509061
G Stra6 stimulated by retinoic acid gene 6 JBrowse link 9 58,063,793 58,154,004 RGD:5509061
G Supt20 SPT20 SAGA complex component JBrowse link 3 54,692,760 54,728,763 RGD:5509061
G Tbc1d32 TBC1 domain family, member 32 JBrowse link 10 56,014,293 56,228,968 RGD:5509061
G Tfap2a transcription factor AP-2, alpha JBrowse link 13 40,713,802 40,738,238 RGD:5509061
G Timp3 tissue inhibitor of metalloproteinase 3 JBrowse link 10 86,300,412 86,349,505 RGD:5509061
G Tlr4 toll-like receptor 4 JBrowse link 4 66,827,551 66,846,581 RGD:5509061
G Tub tubby bipartite transcription factor JBrowse link 7 109,010,880 109,034,459 RGD:5509061
G Tulp1 tubby like protein 1 JBrowse link 17 28,351,515 28,365,216 RGD:5509061
G Ube2cbp ubiquitin-conjugating enzyme E2C binding protein JBrowse link 9 86,307,234 86,464,976 RGD:5509061
G Unc119 unc-119 lipid binding chaperone JBrowse link 11 78,343,495 78,349,164 RGD:5509061
G Vldlr very low density lipoprotein receptor JBrowse link 19 27,216,480 27,254,231 RGD:5509061
G Vps33a VPS33A CORVET/HOPS core subunit JBrowse link 5 123,528,757 123,573,043 RGD:5509061
G Vsx2 visual system homeobox 2 JBrowse link 12 84,569,828 84,595,457 RGD:5509061
abnormal retinal melanin granule morphology term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G a nonagouti JBrowse link 2 154,950,599 155,051,012 RGD:5509061
G Bace2 beta-site APP-cleaving enzyme 2 JBrowse link 16 97,356,728 97,442,936 RGD:5509061
G Bloc1s6 biogenesis of lysosomal organelles complex-1, subunit 6, pallidin JBrowse link 2 122,738,505 122,749,487 RGD:5509061
G Hps6 HPS6, biogenesis of lysosomal organelles complex 2 subunit 3 JBrowse link 19 46,003,478 46,006,173 RGD:5509061
G Kxd1 KxDL motif containing 1 JBrowse link 8 70,513,396 70,523,180 RGD:5509061
G Lyst lysosomal trafficking regulator JBrowse link 13 13,590,311 13,778,803 RGD:5509061
G Pmel premelanosome protein JBrowse link 10 128,695,888 128,720,238 RGD:5509061
G Stra6 stimulated by retinoic acid gene 6 JBrowse link 9 58,063,793 58,154,004 RGD:5509061
G Tyr tyrosinase JBrowse link 7 87,424,771 87,493,512 RGD:5509061
G Tyrp1 tyrosinase-related protein 1 JBrowse link 4 80,834,123 80,851,736 RGD:5509061
abnormal retinal pigmentation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Abca4 ATP-binding cassette, sub-family A (ABC1), member 4 JBrowse link 3 122,043,891 122,180,070 RGD:5509061
G Adamtsl4 ADAMTS-like 4 JBrowse link 3 95,676,201 95,687,927 RGD:5509061
G Arhgap25 Rho GTPase activating protein 25 JBrowse link 6 87,458,544 87,533,261 RGD:5509061
G Bloc1s4 biogenesis of lysosomal organelles complex-1, subunit 4, cappuccino JBrowse link 5 36,747,374 36,748,679 RGD:5509061
G Bmp7 bone morphogenetic protein 7 JBrowse link 2 172,868,012 172,940,321 RGD:5509061
G Ccl2 chemokine (C-C motif) ligand 2 JBrowse link 11 82,035,577 82,037,452 RGD:5509061
G Chm choroidermia (RAB escort protein 1) JBrowse link X 113,040,592 113,185,539 RGD:5509061
G Cp ceruloplasmin JBrowse link 3 19,956,933 20,009,750 RGD:5509061
G Crb1 crumbs family member 1, photoreceptor morphogenesis associated JBrowse link 1 139,176,649 139,379,316 RGD:5509061
G Crx cone-rod homeobox JBrowse link 7 15,865,947 15,879,955 RGD:5509061
G Cryba1 crystallin, beta A1 JBrowse link 11 77,718,614 77,725,293 RGD:5509061
G Csnk2a1 casein kinase 2, alpha 1 polypeptide JBrowse link 2 152,226,535 152,281,856 RGD:5509061
G Ctnna1 catenin (cadherin associated protein), alpha 1 JBrowse link 18 35,118,902 35,254,776 RGD:5509061
G Ctns cystinosis, nephropathic JBrowse link 11 73,183,133 73,199,115 RGD:5509061
G Cx3cr1 chemokine (C-X3-C motif) receptor 1 JBrowse link 9 120,048,683 120,068,296 RGD:5509061
G Dcc deleted in colorectal carcinoma JBrowse link 18 71,253,613 72,351,228 RGD:5509061
G Foxg1 forkhead box G1 JBrowse link 12 49,382,883 49,386,867 RGD:5509061
G Gpr143 G protein-coupled receptor 143 JBrowse link X 152,781,921 152,808,651 RGD:5509061
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano JBrowse link 6 113,067,428 113,077,244 RGD:5509061
G H2az2 H2A.Z histone variant 2 JBrowse link 11 6,427,226 6,444,511 RGD:5509061
G Hbs1l Hbs1-like (S. cerevisiae) JBrowse link 10 21,295,979 21,368,889 RGD:5509061
G Heph hephaestin JBrowse link X 96,455,436 96,574,485 RGD:5509061
G Hps3 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 JBrowse link 3 19,995,945 20,035,334 RGD:5509061
G Jak3 Janus kinase 3 JBrowse link 8 71,676,383 71,690,577 RGD:5509061
G Kitl kit ligand JBrowse link 10 100,015,615 100,100,416 RGD:5509061
G Lca5 Leber congenital amaurosis 5 (human) JBrowse link 9 83,391,355 83,442,994 RGD:5509061
G Lmo7 LIM domain only 7 JBrowse link 14 101,729,928 101,934,708 RGD:5509061
G Lrp2 low density lipoprotein receptor-related protein 2 JBrowse link 2 69,424,335 69,586,029 RGD:5509061
G Lyst lysosomal trafficking regulator JBrowse link 13 13,590,311 13,778,803 RGD:5509061
G Mdm1 transformed mouse 3T3 cell double minute 1 JBrowse link 10 118,141,540 118,168,999 RGD:5509061
G Med1 mediator complex subunit 1 JBrowse link 11 98,152,154 98,193,313 RGD:5509061
G Mertk MER proto-oncogene tyrosine kinase JBrowse link 2 128,698,915 128,803,162 RGD:5509061
G Mitf melanogenesis associated transcription factor JBrowse link 6 97,807,002 98,021,360 RGD:5509061
G Ndp Norrie disease (pseudoglioma) (human) JBrowse link X 16,885,521 16,911,774 RGD:5509061
G Nphp4 nephronophthisis 4 (juvenile) homolog (human) JBrowse link 4 152,476,706 152,563,184 RGD:5509061
G Pax2 paired box 2 JBrowse link 19 44,746,601 44,838,269 RGD:5509061
G Pcare photoreceptor cilium actin regulator JBrowse link 17 71,743,555 71,752,905 RGD:5509061
G Pdgfc platelet-derived growth factor, C polypeptide JBrowse link 3 81,036,416 81,214,040 RGD:5509061
G Pitx2 paired-like homeodomain transcription factor 2 JBrowse link 3 129,199,878 129,219,594 RGD:5509061
G Prkcq protein kinase C, theta JBrowse link 2 11,171,905 11,301,226 RGD:5509061
G Prom1 prominin 1 JBrowse link 5 43,993,621 44,102,047 RGD:5509061
G Rab28 RAB28, member RAS oncogene family JBrowse link 5 41,624,973 41,708,193 RGD:5509061
G Rdh8 retinol dehydrogenase 8 JBrowse link 9 20,818,494 20,828,058 RGD:5509061
G Rho rhodopsin JBrowse link 6 115,926,754 115,940,038 RGD:5509061
G Rpe65 retinal pigment epithelium 65 JBrowse link 3 159,599,075 159,625,307 RGD:5509061
G Rpgr retinitis pigmentosa GTPase regulator JBrowse link X 10,158,216 10,216,795 RGD:5509061
G Rxra retinoid X receptor alpha JBrowse link 2 27,676,445 27,763,319 RGD:5509061
G Serpinf1 serine (or cysteine) peptidase inhibitor, clade F, member 1 JBrowse link 11 75,410,029 75,422,623 RGD:5509061
G Slc9a8 solute carrier family 9 (sodium/hydrogen exchanger), member 8 JBrowse link 2 167,421,599 167,477,000 RGD:5509061
G Sod2 superoxide dismutase 2, mitochondrial JBrowse link 17 13,007,839 13,018,119 RGD:5509061
G Vldlr very low density lipoprotein receptor JBrowse link 19 27,216,480 27,254,231 RGD:5509061
G Vsx2 visual system homeobox 2 JBrowse link 12 84,569,828 84,595,457 RGD:5509061
retinal pigment epithelium atrophy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alms1 ALMS1, centrosome and basal body associated JBrowse link 6 85,587,498 85,726,611 RGD:5509061
G Apoe apolipoprotein E JBrowse link 7 19,696,244 19,701,310 RGD:5509061
G Bmp7 bone morphogenetic protein 7 JBrowse link 2 172,868,012 172,940,321 RGD:5509061
G Ccl2 chemokine (C-C motif) ligand 2 JBrowse link 11 82,035,577 82,037,452 RGD:5509061
G Cp ceruloplasmin JBrowse link 3 19,956,933 20,009,750 RGD:5509061
G Cx3cr1 chemokine (C-X3-C motif) receptor 1 JBrowse link 9 120,048,683 120,068,296 RGD:5509061
G Efemp1 epidermal growth factor-containing fibulin-like extracellular matrix protein 1 JBrowse link 11 28,853,154 28,926,743 RGD:5509061
G Fat1 FAT atypical cadherin 1 JBrowse link 8 44,933,100 45,052,257 RGD:5509061
G Gt(ROSA)26Sor gene trap ROSA 26, Philippe Soriano JBrowse link 6 113,067,428 113,077,244 RGD:5509061
G Heph hephaestin JBrowse link X 96,455,436 96,574,485 RGD:5509061
G Mertk MER proto-oncogene tyrosine kinase JBrowse link 2 128,698,915 128,803,162 RGD:5509061
G Nmnat1 nicotinamide nucleotide adenylyltransferase 1 JBrowse link 4 149,467,569 149,485,210 RGD:5509061
G Oat ornithine aminotransferase JBrowse link 7 132,557,475 132,576,398 RGD:5509061
G Prkcq protein kinase C, theta JBrowse link 2 11,171,905 11,301,226 RGD:5509061
G Rxra retinoid X receptor alpha JBrowse link 2 27,676,445 27,763,319 RGD:5509061
G Sod2 superoxide dismutase 2, mitochondrial JBrowse link 17 13,007,839 13,018,119 RGD:5509061
retinal pigment epithelium hyperplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arhgap35 Rho GTPase activating protein 35 JBrowse link 7 16,494,473 16,614,993 RGD:5509061
G Ccl2 chemokine (C-C motif) ligand 2 JBrowse link 11 82,035,577 82,037,452 RGD:5509061
G Cp ceruloplasmin JBrowse link 3 19,956,933 20,009,750 RGD:5509061
G Cx3cr1 chemokine (C-X3-C motif) receptor 1 JBrowse link 9 120,048,683 120,068,296 RGD:5509061
G Heph hephaestin JBrowse link X 96,455,436 96,574,485 RGD:5509061
G Mdm1 transformed mouse 3T3 cell double minute 1 JBrowse link 10 118,141,540 118,168,999 RGD:5509061
G Otx2 orthodenticle homeobox 2 JBrowse link 14 48,656,781 48,667,644 RGD:5509061

Term paths to the root
Path 1
Term Annotations click to browse term
  mammalian phenotype 13411
    vision/eye phenotype 1773
      abnormal eye morphology 1639
        abnormal eye pigmentation 170
          abnormal retinal pigment epithelium morphology 134
            abnormal retinal pigmentation + 61
            retinal pigment epithelium atrophy 16
            retinal pigment epithelium hyperplasia 7
Path 2
Term Annotations click to browse term
  mammalian phenotype 13411
    vision/eye phenotype 1773
      abnormal eye morphology 1639
        abnormal posterior eye segment morphology 793
          abnormal ocular fundus morphology 696
            abnormal retina morphology 679
              abnormal retinal layer morphology 422
                abnormal retinal pigment epithelium morphology 134
                  abnormal retinal pigmentation + 61
                  retinal pigment epithelium atrophy 16
                  retinal pigment epithelium hyperplasia 7
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.