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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:CAKUT
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Accession:DOID:0080205 term browser browse the term
Definition:A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. (DO)
Synonyms:exact_synonym: NON-SYNDROMIC RENAL OR URINARY TRACT MALFORMATION;   congenital anomalies of kidney and urinary tract;   congenital anomalies of the kidney and urinary tract;   renal or urinary tract malformation
 primary_id: MESH:C566906
 xref: OMIM:PS610805;   ORDO:93545



show annotations for term's descendants           Sort by:
CAKUT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACE angiotensin I converting enzyme ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:34906502 NCBI chr 9:11,497,182...11,516,362
Ensembl chr 9:11,497,182...11,516,358
JBrowse link
G ACTG1 actin gamma 1 ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:3351890 PMID:13680526 PMID:18414213 PMID:22366783 PMID:25052316 More... NCBI chr 9:635,978...638,328
Ensembl chr 9:635,978...638,328
JBrowse link
G BICC1 BicC family RNA binding protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar NCBI chr 4:10,735,307...11,006,650
Ensembl chr 4:10,735,306...11,066,274
JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNPs: :rs2071047,rs17563(human) RGD PMID:24131739 RGD:13442498 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chr24:42,203,183...42,294,105
Ensembl chr24:42,204,823...42,294,653
JBrowse link
G CDC5L cell division cycle 5 like ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chr12:12,779,936...12,822,978
Ensembl chr12:12,780,010...12,822,801
JBrowse link
G CHD1L chromodomain helicase DNA binding protein 1 like ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chr17:57,725,823...57,806,065
Ensembl chr17:57,725,640...57,806,048
JBrowse link
G COL4A1 collagen type IV alpha 1 chain ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:31230195 NCBI chr22:58,511,210...58,651,949
Ensembl chr22:58,512,212...58,588,666
JBrowse link
G CTU2 cytosolic thiouridylase subunit 2 ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:28492532 PMID:30143558 PMID:33057194 PMID:35982159 NCBI chr 5:64,640,389...64,647,298
Ensembl chr 5:64,640,389...64,647,215
JBrowse link
G DHX8 DEAH-box helicase 8 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr 9:19,734,356...19,766,212
Ensembl chr 9:19,729,816...19,766,555
JBrowse link
G DNASE1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr 6:37,596,735...37,599,953
Ensembl chr 6:37,595,911...37,599,827
JBrowse link
G EMC1 ER membrane protein complex subunit 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:26572623 PMID:26942288 PMID:27657687 PMID:28492532 PMID:29271071 NCBI chr 2:79,367,154...79,393,096
Ensembl chr 2:79,367,185...79,392,314
JBrowse link
G ETV4 ETS variant transcription factor 4 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr 9:19,715,259...19,731,085
Ensembl chr 9:19,715,535...19,730,456
JBrowse link
G FAT4 FAT atypical cadherin 4 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:28878612 PMID:30143558 NCBI chr19:15,157,595...15,332,821
Ensembl chr19:15,158,922...15,332,045
JBrowse link
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:30143558 PMID:32475988
G FRAS1 Fraser extracellular matrix complex subunit 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:12766769 PMID:16199547 PMID:18671281 PMID:25741868 PMID:28492532 More... NCBI chr32:2,558,442...2,993,199
Ensembl chr32:2,558,354...2,991,063
JBrowse link
G FREM1 FRAS1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 NCBI chr11:35,174,390...35,338,983
Ensembl chr11:35,176,934...35,310,335
JBrowse link
G FREM2 FRAS1 related extracellular matrix 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:24700879 PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr25:2,097,264...2,264,049
Ensembl chr25:2,102,849...2,264,456
JBrowse link
G GATA3 GATA binding protein 3 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar NCBI chr 2:28,068,143...28,098,445
Ensembl chr 2:28,069,051...28,087,760
JBrowse link
G GDF6 growth differentiation factor 6 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:18425797 PMID:19129173 PMID:23307924 PMID:24033266 PMID:25741868 More... NCBI chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174
JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:29100090 PMID:30143558 NCBI chr 7:66,489,124...66,758,207
Ensembl chr 7:66,503,999...66,639,013
JBrowse link
G HNF1B HNF1 homeobox B ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:15930087 PMID:16249435 PMID:16371430 PMID:17116179 PMID:18249217 More... NCBI chr 9:37,437,992...37,493,200
Ensembl chr 9:37,438,583...37,492,993
JBrowse link
G HPSE2 heparanase 2 (inactive) ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:19669792 PMID:20560210 PMID:25510506 PMID:27151922 PMID:28492532 More... NCBI chr28:11,584,440...12,215,732
Ensembl chr28:11,585,807...12,215,614
JBrowse link
G HSP70 heat shock protein 70 ISO DNA: SNP: :g.1267A>G RGD PMID:20692469 RGD:7242732 NCBI chr12:1,285,282...1,287,670 JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 NCBI chr24:11,656,926...11,693,146
Ensembl chr24:11,657,416...11,692,199
JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28492532 PMID:30143558 NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825
JBrowse link
G KMT2D lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar NCBI chr27:5,516,866...5,556,303
Ensembl chr27:5,521,804...5,553,490
JBrowse link
G LIFR LIF receptor subunit alpha ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:26627873 PMID:28334964 PMID:28492532 PMID:34063511 More... NCBI chr 4:70,328,963...70,376,127
Ensembl chr 4:70,267,514...70,376,127
JBrowse link
G NOTCH2 notch receptor 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr17:56,854,825...57,020,157
Ensembl chr17:56,860,429...57,020,857
JBrowse link
G NPHP1 nephrocystin 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:30143558 NCBI chr17:35,076,527...35,136,674
Ensembl chr17:35,076,636...35,136,425
JBrowse link
G NPHP4 nephrocystin 4 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28492532 PMID:30143558 NCBI chr 5:59,819,236...59,936,220
Ensembl chr 5:59,814,274...59,929,386
JBrowse link
G NRIP1 nuclear receptor interacting protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:28381549 PMID:30143558 NCBI chr31:11,852,330...11,951,735
Ensembl chr31:11,855,338...11,932,056
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:10,140,439...10,194,478
Ensembl chr  X:10,140,067...10,194,472
JBrowse link
G PAX2 paired box 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:3377002 PMID:8589702 PMID:9106533 PMID:11093271 PMID:11241473 More... NCBI chr28:13,442,894...13,519,853
Ensembl chr28:13,442,893...13,532,094
JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:27657687 NCBI chr12:11,978,337...11,982,265
Ensembl chr12:11,978,422...12,008,579
JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 PMID:27657687 PMID:28492532 PMID:29641532 NCBI chr28:3,946,132...3,995,505
Ensembl chr28:3,947,232...3,994,210
JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:30692597 PMID:35227688 NCBI chr31:8,082,363...8,594,623
Ensembl chr31:7,626,126...8,593,728
JBrowse link
G ROBO2 roundabout guidance receptor 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:17357069 PMID:18235093 PMID:22995991 PMID:23536131 PMID:24429398 More... NCBI chr31:9,415,390...11,047,710
Ensembl chr31:9,419,026...11,022,392
JBrowse link
G SALL1 spalt like transcription factor 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr 2:64,242,742...64,260,021
Ensembl chr 2:64,243,987...64,259,521
JBrowse link
G SIX2 SIX homeobox 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:27657687 PMID:28492532 PMID:32164334 NCBI chr10:47,399,152...47,403,503
Ensembl chr10:47,400,034...47,403,509
JBrowse link
G SLIT2 slit guidance ligand 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 PMID:26026792 PMID:28492532 NCBI chr 3:88,964,707...89,311,817
Ensembl chr 3:88,966,232...89,312,955
JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 PMID:26026792 PMID:30143558 NCBI chr10:6,677,409...6,947,495
Ensembl chr10:6,677,403...6,944,677
JBrowse link
G TBC1D1 TBC1 domain family member 1 ISO ClinVar Annotator: match by term: Non-syndromic renal or urinary tract malformation ClinVar PMID:25741868 NCBI chr 3:74,077,477...74,316,725
Ensembl chr 3:73,992,452...74,316,894
JBrowse link
G TBX18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:26235987 PMID:30143558 NCBI chr12:44,901,076...44,929,730
Ensembl chr12:44,873,119...44,929,205
JBrowse link
G TBX6 T-box transcription factor 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:30578417 NCBI chr 6:18,093,201...18,098,592
Ensembl chr 6:18,093,189...18,097,636
JBrowse link
G TMEM231 transmembrane protein 231 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:30143558 NCBI chr 5:75,246,043...75,266,705
Ensembl chr 5:75,246,043...75,265,021
JBrowse link
G TRAP1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:25741868 PMID:28492532 PMID:30143558 NCBI chr 6:37,544,929...37,596,789
Ensembl chr 6:37,544,580...37,597,427
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract ClinVar PMID:11112658 PMID:11950061 PMID:18946009 PMID:24502542 PMID:25792522 More... NCBI chr13:15,017,180...15,273,177
Ensembl chr13:15,022,652...15,273,666
JBrowse link
G ZMYM2 zinc finger MYM-type containing 2 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract | ClinVar Annotator: match by term: Congenital anomalies of the kidney and urinary tract ClinVar PMID:25741868 PMID:32891193 NCBI chr25:18,040,081...18,158,241
Ensembl chr25:18,050,995...18,156,980
JBrowse link
G ZNG1 Zn regulated GTPase metalloprotein activator 1 ISO MouseDO NCBI chr 1:89,063,511...89,120,995
Ensembl chr 1:89,063,511...89,121,360
JBrowse link
BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA3 cholinergic receptor nicotinic alpha 3 subunit susceptibility ISO ClinVar Annotator: match by term: CHRNA3-related condition | ClinVar Annotator: match by term: Urinary bladder, atony of ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:31708116 NCBI chr13:38,330,287...38,343,142
Ensembl chr13:38,328,814...38,346,246
JBrowse link
CAKUT1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 ClinVar NCBI chr20:40,457,430...40,495,128
Ensembl chr20:40,457,657...40,483,881
JBrowse link
G DNASE1 deoxyribonuclease 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 ClinVar PMID:24152966 PMID:28710113 PMID:35765067 NCBI chr 6:37,596,735...37,599,953
Ensembl chr 6:37,595,911...37,599,827
JBrowse link
G DSTYK dual serine/threonine and tyrosine protein kinase ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 OMIM
ClinVar
PMID:9536098 PMID:17273976 PMID:17576681 PMID:23862974 PMID:25741868 More... NCBI chr38:1,669,721...1,716,407
Ensembl chr38:1,669,726...1,716,254
JBrowse link
G SRGAP1 SLIT-ROBO Rho GTPase activating protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to ClinVar PMID:25741868 PMID:26026792 PMID:30143558 NCBI chr10:6,677,409...6,947,495
Ensembl chr10:6,677,403...6,944,677
JBrowse link
G TRAP1 TNF receptor associated protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 ClinVar PMID:24152966 PMID:28710113 PMID:35765067 NCBI chr 6:37,544,929...37,596,789
Ensembl chr 6:37,544,580...37,597,427
JBrowse link
G UPK3A uroplakin 3A ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1 | ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 1, susceptibility to ClinVar PMID:15888565 PMID:16731295 PMID:25741868 NCBI chr10:20,747,139...20,755,131
Ensembl chr10:20,747,140...20,755,162
JBrowse link
CAKUT2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO DNA:mutations:cds: c.485G> A (p.R162Q), c.1167T> C(human) RGD PMID:21927809 RGD:13446406 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G MMP9 matrix metallopeptidase 9 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G TBX18 T-box transcription factor 18 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 2 | ClinVar Annotator: match by term: Pelvi-ureteric junction obstruction OMIM
ClinVar
PMID:25741868 PMID:25741890 PMID:26235987 PMID:28492532 PMID:30143558 NCBI chr12:44,901,076...44,929,730
Ensembl chr12:44,873,119...44,929,205
JBrowse link
G TIMP1 TIMP metallopeptidase inhibitor 1 treatment ISO RGD PMID:27448803 RGD:13204792 NCBI chr  X:41,201,623...41,205,314
Ensembl chr  X:41,201,638...41,205,310
JBrowse link
CAKUT3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NRIP1 nuclear receptor interacting protein 1 ISO ClinVar Annotator: match by term: Congenital anomalies of kidney and urinary tract 3 | ClinVar Annotator: match by term: NRIP1-related condition OMIM
ClinVar
PMID:25741868 PMID:28381549 PMID:28492532 PMID:30143558 NCBI chr31:11,852,330...11,951,735
Ensembl chr31:11,855,338...11,932,056
JBrowse link
renal coloboma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HIF1AN hypoxia inducible factor 1 subunit alpha inhibitor ISO ClinVar Annotator: match by term: Renal coloboma syndrome ClinVar PMID:11461952 PMID:24676634 PMID:28492532 NCBI chr28:13,253,646...13,277,997
Ensembl chr28:13,258,765...13,267,608
JBrowse link
G NDUFB8 NADH:ubiquinone oxidoreductase subunit B8 ISO ClinVar Annotator: match by term: Renal coloboma syndrome ClinVar PMID:11461952 PMID:24676634 PMID:28492532 NCBI chr28:13,249,067...13,253,670
Ensembl chr28:13,249,070...13,253,619
JBrowse link
G PAX2 paired box 2 ISO ClinVar Annotator: match by term: PAX2-related condition | ClinVar Annotator: match by term: Papillorenal syndrome with macular abnormalities | ClinVar Annotator: match by term: Renal coloboma syndrome OMIM
ClinVar
PMID:2644560 PMID:3377002 PMID:7795640 PMID:8589702 PMID:8943028 More... NCBI chr28:13,442,894...13,519,853
Ensembl chr28:13,442,893...13,532,094
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      Urogenital Diseases 4734
        urinary system disease 2402
          CAKUT 58
            BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT 1
            CAKUT1 6
            CAKUT2 4
            CAKUT3 1
            renal coloboma syndrome 3
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      Urogenital Diseases 4734
        urinary system disease 2402
          ureteral disease 169
            vesicoureteral reflux 70
              CAKUT 58
                BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT 1
                CAKUT1 6
                CAKUT2 4
                CAKUT3 1
                renal coloboma syndrome 3
paths to the root