Vulto-van Silfhout AT, Hehir-Kwa JY, van Bon BWM, Schuurs-Hoeijmakers JHM, Meader S, Hellebrekers CJM, Thoonen IJM, de Brouwer APM, Brunner HG, Webber C, Pfundt R, de Leeuw N, de Vries BBA: Clinical significance of de novo and inherited copy number variation. Hum Mutat. 2013, 34: 1679-1687. 10.1002/humu.22442.
Article
PubMed
CAS
Google Scholar
Pober BR: Williams-Beuren syndrome. N Engl J Med. 2010, 362: 239-252. 10.1056/NEJMra0903074.
Article
PubMed
CAS
Google Scholar
Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT: The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell. 1993, 73: 159-168. 10.1016/0092-8674(93)90168-P.
Article
PubMed
CAS
Google Scholar
Frangiskakis JM, Ewart AK, Morris CA, Mervis CB, Bertrand J, Robinson BF, Klein BP, Ensing GJ, Everett LA, Green ED, Pröschel C, Gutowski NJ, Noble M, Atkinson DL, Odelberg SJ, Keating MT: LIM-kinase1 hemizygosity implicated in impaired visuospatial constructive cognition. Cell. 1996, 86: 59-69. 10.1016/S0092-8674(00)80077-X.
Article
PubMed
CAS
Google Scholar
Morris CA, Mervis CB, Hobart HH, Gregg RG, Bertrand J, Ensing GJ, Sommer A, Moore CA, Hopkin RJ, Spallone PA, Keating MT, Osborne L, Kimberley KW, Stock AD: GTF2I hemizygosity implicated in mental retardation in Williams syndrome: genotype-phenotype analysis of five families with deletions in the Williams syndrome region. Am J Med Genet A. 2003, 123A: 45-59. 10.1002/ajmg.a.20496.
Article
PubMed
Google Scholar
Klopocki E, Ott CE, Benatar N, Ullmann R, Mundlos S, Lehmann K: A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. J Med Genet. 2008, 45: 370-375. 10.1136/jmg.2007.055699.
Article
PubMed
CAS
Google Scholar
Ott CE, Hein H, Lohan S, Hoogeboom J, Foulds N, Grünhagen J, Stricker S, Villavicencio-Lorini P, Klopocki E, Mundlos S: Microduplications upstream of MSX2 are associated with a phenocopy of cleidocranial dysplasia. J Med Genet. 2012, 49: 437-441. 10.1136/jmedgenet-2012-100825.
Article
PubMed
CAS
Google Scholar
Verdin H, D’haene B, Beysen D, Novikova Y, Menten B, Sante T, Lapunzina P, Nevado J, Carvalho CMB, Lupski JR, De Baere E: Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain. PLoS Genet. 2013, 9: e1003358-10.1371/journal.pgen.1003358.
Article
PubMed
CAS
PubMed Central
Google Scholar
Tolhuis B, Palstra RJ, Splinter E, Grosveld F, de Laat W: Looping and interaction between hypersensitive sites in the activeβ-globin locus. Mol Cell. 2002, 10: 1453-1465. 10.1016/S1097-2765(02)00781-5.
Article
PubMed
CAS
Google Scholar
Branco MR, Pombo A: Chromosome organization: new facts, new models. Trends Cell Biol. 2007, 17: 127-134. 10.1016/j.tcb.2006.12.006.
Article
PubMed
CAS
Google Scholar
Lieberman-Aiden E, van Berkum NL, Williams L, Imakaev M, Ragoczy T, Telling A, Amit I, Lajoie BR, Sabo PJ, Dorschner MO, Sandstrom R, Bernstein B, Bender MA, Groudine M, Gnirke A, Stamatoyannopoulos J, Mirny LA, Lander ES, Dekker J: Comprehensive mapping of long-range interactions reveals folding principles of the human genome. Science. 2009, 326: 289-293. 10.1126/science.1181369.
Article
PubMed
CAS
PubMed Central
Google Scholar
Dixon JR, Selvaraj S, Yue F, Kim A, Li Y, Shen Y, Hu M, Liu JS, Ren B: Topological domains in mammalian genomes identified by analysis of chromatin interactions. Nature. 2012, 485: 376-380. 10.1038/nature11082.
Article
PubMed
CAS
PubMed Central
Google Scholar
Krijger PHL, de Laat W: Identical cells with different 3D genomes; cause and consequences?. Curr Opin Genet Dev. 2013, 23: 191-196. 10.1016/j.gde.2012.12.010.
Article
PubMed
CAS
Google Scholar
Zuin J, Dixon JR, van der Reijden MIJA, Ye Z, Kolovos P, Brouwer RWW, van de Corput MPC, van de Werken HJG, Knoch TA, van IJcken WFJ, Grosveld FG, Ren B, Wendt KS: Cohesin and CTCF differentially affect chromatin architecture and gene expression in human cells. Proc Natl Acad Sci USA. 2014, 111: 996-1001. 10.1073/pnas.1317788111.
Article
PubMed
CAS
PubMed Central
Google Scholar
de Laat W, Duboule D: Topology of mammalian developmental enhancers and their regulatory landscapes. Nature. 2013, 502: 499-506. 10.1038/nature12753.
Article
PubMed
CAS
Google Scholar
Dekker J, Marti-Renom Ma, Mirny La: Exploring the three-dimensional organization of genomes: interpreting chromatin interaction data. Nature Reviews Genetics. 2013, 14: 390-403. 10.1038/nrg3454.
Article
PubMed
CAS
PubMed Central
Google Scholar
Kyrchanova O, Georgiev P: Chromatin insulators and long-distance interactions in Drosophila. FEBS Lett. 2014, 588: 8-14. 10.1016/j.febslet.2013.10.039.
Article
PubMed
CAS
Google Scholar
Li HB, Müller M, Bahechar IA, Kyrchanova O, Ohno K, Georgiev P, Pirrotta V: Insulators, not Polycomb response elements, are required for long-range interactions between Polycomb targets in Drosophila melanogaster. Mol Cell Biol. 2011, 31: 616-625. 10.1128/MCB.00849-10.
Article
PubMed
CAS
PubMed Central
Google Scholar
Kravchenko E, Savitskaya E, Kravchuk O, Parshikov A, Georgiev P, Savitsky M: Pairing between gypsy insulators facilitates the enhancer action in trans throughout the Drosophila genome. Mol Cell Biol. 2005, 25: 9283-9291. 10.1128/MCB.25.21.9283-9291.2005.
Article
PubMed
CAS
PubMed Central
Google Scholar
Spielmann M, Brancati F, Krawitz PM, Robinson PN, Ibrahim DM, Franke M, Hecht J, Lohan S, Dathe K, Nardone AM, Ferrari P, Landi A, Wittler L, Timmermann B, Chan D, Mennen U, Klopocki E, Mundlos S: Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. Am J Hum Genet. 2012, 91: 629-635. 10.1016/j.ajhg.2012.08.014.
Article
PubMed
CAS
PubMed Central
Google Scholar
Spielmann M, Mundlos S: Structural variations, the regulatory landscape of the genome and their alteration in human disease. Bioessays. 2013, 35: 533-543. 10.1002/bies.201200178.
Article
PubMed
CAS
Google Scholar
Swaminathan GJ, Bragin E, Chatzimichali EA, Corpas M, Bevan AP, Wright CF, Carter NP, Hurles ME, Firth HV: DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders. Hum Mol Genet. 2012, 21: R37-R44. 10.1093/hmg/dds362.
Article
PubMed
CAS
PubMed Central
Google Scholar
Xi H, Shulha HP, Lin JM, Vales TR, Fu Y, Bodine DM, McKay RDG, Chenoweth JG, Tesar PJ, Furey TS, Ren B, Weng Z, Crawford GE: Identification and characterization of cell type-specific and ubiquitous chromatin regulatory structures in the human genome. PLoS Genet. 2007, 3: e136-10.1371/journal.pgen.0030136.
Article
PubMed
PubMed Central
Google Scholar
Song L, Zhang Z, Grasfeder LL, Boyle AP, Giresi PG, Lee BK, Sheffield NC, Gräf S, Huss M, Keefe D, Liu Z, London D, McDaniell RM, Shibata Y, Showers KA, Simon JM, Vales T, Wang T, Winter D, Zhang Z, Clarke ND, Birney E, Iyer VR, Crawford GE, Lieb JD, Furey TS: Open chromatin defined by DNaseI and FAIRE identifies regulatory elements that shape cell-type identity. Genome Res. 2011, 21: 1757-1767. 10.1101/gr.121541.111.
Article
PubMed
CAS
PubMed Central
Google Scholar
Ernst J, Kheradpour P, Mikkelsen TS, Shoresh N, Ward LD, Epstein CB, Zhang X, Wang L, Issner R, Coyne M, Ku M, Durham T, Kellis M, Bernstein BE: Mapping and analysis of chromatin state dynamics in nine human cell types. Nature. 2011, 473: 43-49. 10.1038/nature09906.
Article
PubMed
CAS
PubMed Central
Google Scholar
Bernstein BE, Birney E, Dunham I, Green ED, Gunter C, Snyder M: An integrated encyclopedia of DNA elements in the human genome. Nature. 2012, 489: 57-74. 10.1038/nature11247.
Article
Google Scholar
Visel A, Blow MJ, Li Z, Zhang T, Akiyama Ja, Holt A, Plajzer-Frick I, Shoukry M, Wright C, Chen F, Afzal V, Ren B, Rubin EM, Pennacchio La: ChIP-seq accurately predicts tissue-specific activity of enhancers. Nature. 2009, 457: 854-858. 10.1038/nature07730.
Article
PubMed
CAS
PubMed Central
Google Scholar
Maurano MT, Humbert R, Rynes E, Thurman RE, Haugen E, Wang H, Reynolds AP, Sandstrom R, Qu H, Brody J, Shafer A, Neri F, Lee K, Kutyavin T, Stehling-Sun S, Johnson AK, Canfield TK, Giste E, Diegel M, Bates D, Hansen RS, Neph S, Sabo PJ, Heimfeld S, Raubitschek A, Ziegler S, Cotsapas C, Sotoodehnia N, Glass I, Sunyaev SR, et al: Systematic localization of common disease-associated variation in regulatory DNA. Science. 2012, 337: 1190-1195. 10.1126/science.1222794.
Article
PubMed
CAS
PubMed Central
Google Scholar
Doelken SC, Köhler S, Mungall CJ, Gkoutos GV, Ruef BJ, Smith C, Smedley D, Bauer S, Klopocki E, Schofield PN, Westerfield M, Robinson PN, Lewis SE: Phenotypic overlap in the contribution of individual genes to CNV pathogenicity revealed by cross-species computational analysis of single-gene mutations in humans, mice and zebrafish. Disease Models Mech. 2013, 372: 358-372. 10.1242/dmm.010322.
Article
Google Scholar
Robinson PN, Webber C: Phenotype ontologies and cross-species analysis for translational research. PLoS Genet. 2014, 10: e1004268-10.1371/journal.pgen.1004268.
Article
PubMed
PubMed Central
Google Scholar
Köhler S, Doelken SC, Ruef BJ, Bauer S, Washington N, Westerfield M, Gkoutos G, Schofield P, Smedley D, Lewis SE, Robinson PN, Mungall CJ: Construction and accessibility of a cross-species phenotype ontology along with gene annotations for biomedical research. F1000Res. 2013, 2: 30-
PubMed
PubMed Central
Google Scholar
Ariani F, Hayek G, Rondinella D, Artuso R, Mencarelli MA, Spanhol-Rosseto A, Pollazzon M, Buoni S, Spiga O, Ricciardi S, Meloni I, Longo I, Mari F, Broccoli V, Zappella M, Renieri A: FOXG1 is responsible for the congenital variant of Rett syndrome. Am J Hum Genet. 2008, 83: 89-93. 10.1016/j.ajhg.2008.05.015.
Article
PubMed
CAS
PubMed Central
Google Scholar
Kortüm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Uyanik G, Kutsche K, Dobyns WB: The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011, 48: 396-406. 10.1136/jmg.2010.087528.
Article
PubMed
Google Scholar
Ellaway CJ, Ho G, Bettella E, Knapman A, Collins F, Hackett A, McKenzie F, Darmanian A, Peters GB, Fagan K, Christodoulou J: 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype. Eur J Hum Genet EJHG. 2013, 21: 522-527. 10.1038/ejhg.2012.208.
Article
PubMed
CAS
Google Scholar
Allou L, Lambert L, Amsallem D, Bieth E, Edery P, Destrée A, Rivier F, Amor D, Thompson E, Nicholl J, Harbord M, Nemos C, Saunier A, Moustaïne A, Vigouroux A, Jonveaux P, Philippe C: 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. Eur J Hum Genet EJHG. 2012, 20: 1216-1223. 10.1038/ejhg.2012.127.
Article
PubMed
CAS
Google Scholar
Lettice LA, Daniels S, Sweeney E, Venkataraman S, Devenney PS, Gautier P, Morrison H, Fantes J, Hill RE, FitzPatrick DR: Enhancer-adoption as a mechanism of human developmental disease. Hum Mutat. 2011, 32: 1492-1499. 10.1002/humu.21615.
Article
PubMed
CAS
Google Scholar
Visel A, Minovitsky S, Dubchak I, Pennacchio La: VISTA Enhancer Browser - a database of tissue-specific human enhancers. Nucleic Acids Res. 2007, 35: D88-D92. 10.1093/nar/gkl822.
Article
PubMed
CAS
PubMed Central
Google Scholar
Li Z, Jerebtsova M, Liu XH, Tang P, Ray PE: Novel cystogenic role of basic fibroblast growth factor in developing rodent kidneys. Am J Physiol Renal Physiol. 2006, 291: F289-F296. 10.1152/ajprenal.00382.2005.
Article
PubMed
CAS
Google Scholar
Bates CM: Role of fibroblast growth factor receptor signaling in kidney development. Pediat Nephrol (Berlin, Germany). 2011, 26: 1373-1379. 10.1007/s00467-010-1747-z.
Article
Google Scholar
Roodhooft AM, Brussaard CC, Elst E, van Acker KJ: Lacrimo-auriculo-dento-digital (LADD) syndrome with renal and foot anomalies. Clin Genet. 1990, 38: 228-232. 10.1111/j.1399-0004.1990.tb03574.x.
Article
PubMed
CAS
Google Scholar
LeHeup BP, Masutti JP, Droullé P, Tisserand J: The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies. Eur J Pediatr. 1995, 154: 130-133. 10.1007/BF01991916.
Article
PubMed
CAS
Google Scholar
Cabianca DS, Casa V, Bodega B, Xynos A, Ginelli E, Tanaka Y, Gabellini D: A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy. Cell. 2012, 149: 819-831. 10.1016/j.cell.2012.03.035.
Article
PubMed
CAS
PubMed Central
Google Scholar
Snider L, Geng LN, Lemmers RJLF, Kyba M, Ware CB, Nelson AM, Tawil R, Filippova GN, van der Maarel SM, Tapscott SJ, Miller DG: Facioscapulohumeral dystrophy: incomplete suppression of a retrotransposed gene. PLoS Genet. 2010, 6: e1001181-10.1371/journal.pgen.1001181.
Article
PubMed
PubMed Central
Google Scholar
Block GJ, Narayanan D, Amell AM, Petek LM, Davidson KC, Bird TD, Tawil R, Moon RT, Miller DG: Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells. Hum Mol Genet. 2013, 22: 4661-4672. 10.1093/hmg/ddt314.
Article
PubMed
CAS
PubMed Central
Google Scholar
Huang N, Lee I, Marcotte EM, Hurles ME: Characterising and predicting haploinsufficiency in the human genome. PLoS Genet. 2010, 6: e1001154-10.1371/journal.pgen.1001154.
Article
PubMed
PubMed Central
Google Scholar
Hehir-Kwa JY, Wieskamp N, Webber C, Pfundt R, Brunner HG, Gilissen C, de Vries BBA, Ponting CP, Veltman JA: Accurate distinction of pathogenic from benign CNVs in mental retardation. PLoS Comput Biol. 2010, 6: e1000752-10.1371/journal.pcbi.1000752.
Article
PubMed
PubMed Central
Google Scholar
Shaikh TH, Haldeman-Englert C, Geiger EA, Ponting CP, Webber C: Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes. Hum Mol Genet. 2011, 20: 880-893. 10.1093/hmg/ddq527.
Article
PubMed
CAS
PubMed Central
Google Scholar
Boulding H, Webber C: Large-scale objective association of mouse phenotypes with human symptoms through structural variation identified in patients with developmental disorders. Hum Mutat. 2012, 33: 874-883. 10.1002/humu.22069.
Article
PubMed
Google Scholar
Corpas M, Bragin E, Clayton S, Bevan P, Firth HV: Interpretation of genomic copy number variants using DECIPHER. Curr Protoc Hum Genet. 2012, 8: 14-
PubMed
Google Scholar
Hinrichs AS, Karolchik D, Baertsch R, Barber GP, Bejerano G, Clawson H, Diekhans M, Furey TS, Harte RA, Hsu F, Hillman-Jackson J, Kuhn RM, Pedersen JS, Pohl A, Raney BJ, Rosenbloom KR, Siepel A, Smith KE, Sugnet CW, Sultan-Qurraie A, Thomas DJ, Trumbower H, Weber RJ, Weirauch M, Zweig AS, Haussler D, Kent WJ: The UCSC genome browser database: update 2006. Nucleic Acids Res. 2006, 34: D590-D598. 10.1093/nar/gkj144.
Article
PubMed
CAS
PubMed Central
Google Scholar
Song L, Crawford GE: DNase-seq: a high-resolution technique for mapping active gene regulatory elements across the genome from mammalian cells. Cold Spring Harb Protoc. 2010, 2010: pdb.prot5384-10.1101/pdb.prot5384.
Article
PubMed
PubMed Central
Google Scholar
He HH, Meyer CA, Chen MW, Jordan VC, Brown M, Liu XS: Differential DNase I hypersensitivity reveals factor-dependent chromatin dynamics. Genome Res. 2012, 22: 1015-1025. 10.1101/gr.133280.111.
Article
PubMed
CAS
PubMed Central
Google Scholar
Boyle AP, Davis S, Shulha HP, Meltzer P, Margulies EH, Weng Z, Furey TS, Crawford GE: High-resolution mapping and characterization of open chromatin across the genome. Cell. 2008, 132: 311-322. 10.1016/j.cell.2007.12.014.
Article
PubMed
CAS
PubMed Central
Google Scholar
Bernstein BE, Stamatoyannopoulos JA, Costello JF, Ren B, Milosavljevic A, Meissner A, Kellis M, Marra MA, Beaudet AL, Ecker JR, Farnham PJ, Hirst M, Lander ES, Mikkelsen TS, Thomson JA: The NIH Roadmap Epigenomics Mapping Consortium. Nat Biotechnol. 2010, 28: 1045-1048. 10.1038/nbt1010-1045.
Article
PubMed
CAS
PubMed Central
Google Scholar
Quinlan AR, Hall IM: BEDTools: a flexible suite of utilities for comparing genomic features. Bioinformatics. 2010, 26: 841-842. 10.1093/bioinformatics/btq033.
Article
PubMed
CAS
PubMed Central
Google Scholar
Tibshirani R, Hastie T, Narasimhan B, Chu G: Diagnosis of multiple cancer types by shrunken centroids of gene expression. Proc Natl Acad Sci USA. 2002, 99: 6567-6572. 10.1073/pnas.082099299.
Article
PubMed
CAS
PubMed Central
Google Scholar
Irizarry RA, Warren D, Spencer F, Kim IF, Biswal S, Frank BC, Gabrielson E, Garcia JGN, Geoghegan J, Germino G, Griffin C, Hilmer SC, Hoffman E, Jedlicka AE, Kawasaki E, Martínez-Murillo F, Morsberger L, Lee H, Petersen D, Quackenbush J, Scott A, Wilson M, Yang Y, Ye SQ, Yu W: Multiple-laboratory comparison of microarray platforms. Nat Methods. 2005, 2: 345-350. 10.1038/nmeth756.
Article
PubMed
CAS
Google Scholar
Li Q, Brown JB, Huang H, Bickel PJ: Measuring reproducibility of high-throughput experiments. Ann Appl Stat. 2011, 5: 1752-1779. 10.1214/11-AOAS466.
Article
Google Scholar
San Diego Supercomputer Center. [], [http://chromosome.sdsc.edu/mouse/hi-c/download.html]
Resnik P: Semantic similarity in a taxonomy: an information-based measure and its application to problems of ambiguity in natural language. J Artif Intell Res. 1999, 11: 95-130.
Google Scholar
Robinson PN, Bauer S: Introduction to Bio-Ontologies, Boca Raton: CRC Press; 2011.
Lanctôt C, Lamolet B, Drouin J: The bicoid-related homeoprotein Ptx1 defines the most anterior domain of the embryo and differentiates posterior from anterior lateral mesoderm. Development. 1997, 124: 2807-2817.
PubMed
Google Scholar
Gurnett CA, Alaee F, Kruse LM, Desruisseau DM, Hecht JT, Wise CA, Bowcock AM, Dobbs MB: Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation. Am J Hum Genet. 2008, 83: 616-622. 10.1016/j.ajhg.2008.10.004.
Article
PubMed
CAS
PubMed Central
Google Scholar
Alvarado DM, McCall K, Aferol H, Silva MJ, Garbow JR, Spees WM, Patel T, Siegel M, Dobbs MB, Gurnett CA: Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice. Hum Mol Genet. 2011, 20: 3943-3952. 10.1093/hmg/ddr313.
Article
PubMed
CAS
PubMed Central
Google Scholar
Köhler S, Doelken SC, Mungall CJ, Bauer S, Firth HV, Bailleul-Forestier I, Black GCM, Brown DL, Brudno M, Campbell J, Fitzpatrick DR, Eppig JT, Jackson AP, Freson K, Girdea M, Helbig I, Hurst JA, Jähn J, Jackson LG, Kelly AM, Ledbetter DH, Mansour S, Martin CL, Moss C, Mumford A, Ouwehand WH, Park SM, Riggs ER, Scott RH, Sisodiya S, et al: The human phenotype ontology project: linking molecular biology and disease through phenotype data. Nucleic Acids Res. 2014, 42: D966-D974. 10.1093/nar/gkt1026.
Article
PubMed
PubMed Central
Google Scholar
topdombar: Source code repository for analysis of phenotypes, microdeletions, and topological chromosome domain boundaries. [], [https://github.com/charite/topodombar]
SparseData. [], [https://github.com/mikelove/SparseData]
DECIPHER (DatabasE of genomic variants and phenotype in humans using ensembl resources). [], [http://decipher.sanger.ac.uk/]
Karolchik D, Barber GP, Casper J, Clawson H, Cline MS, Diekhans M, Dreszer TR, Fujita PA, Guruvadoo L, Haeussler M, Harte RA, Heitner S, Hinrichs AS, Learned K, Lee BT, Li CH, Raney BJ, Rhead B, Rosenbloom KR, Sloan CA, Speir ML, Zweig AS, Haussler D, Kuhn RM, Kent WJ: The UCSC Genome Browser database: 2014 update. Nucleic Acids Res. 2014, 42: D764-D770. 10.1093/nar/gkt1168.
Article
PubMed
CAS
PubMed Central
Google Scholar
Human Phenotype Ontology Downloads. [], [http://human-phenotype-ontology.org/contao/index.php/downloads.html]