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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:Hypertelorism
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Accession:DOID:9003133 term browser browse the term
Definition:Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
Synonyms:exact_synonym: Hypertelorisms
 primary_id: MESH:D006972;   RDO:0000897
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Hypertelorism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta1 actin, alpha 1, skeletal muscle ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr19:56,674,072...56,677,084
Ensembl chr19:56,674,074...56,677,084
JBrowse link
G Aff2 AF4/FMR2 family, member 2 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr  X:153,539,951...154,051,022
Ensembl chr  X:153,539,668...154,051,181
JBrowse link
G Akt3 AKT serine/threonine kinase 3 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr13:95,076,308...95,348,913
Ensembl chr13:95,081,390...95,348,913
JBrowse link
G Alpl alkaline phosphatase, biomineralization associated ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Amotl1 angiomotin-like 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 8:13,037,265...13,157,701
Ensembl chr 8:13,042,641...13,109,487
JBrowse link
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr19:55,703,831...55,862,446
Ensembl chr19:55,703,824...55,737,500
JBrowse link
G Bbs5 Bardet-Biedl syndrome 5 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:15137946, PMID:21209035, PMID:28492532, PMID:30311386 NCBI chr 3:55,886,695...55,907,717
Ensembl chr 3:55,886,695...55,907,716
JBrowse link
G Capn3 calpain 3 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 3:112,227,486...112,278,408
Ensembl chr 3:112,228,720...112,278,408
JBrowse link
G Cblif cobalamin binding intrinsic factor ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:14576042, PMID:15738392, PMID:20408840, PMID:22929189, PMID:24033266, PMID:25308559, PMID:27577878, PMID:28492532, PMID:30311386 NCBI chr 1:228,118,048...228,132,296
Ensembl chr 1:228,118,048...228,132,404
JBrowse link
G Cdk13 cyclin-dependent kinase 13 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr17:49,833,194...49,922,932
Ensembl chr17:49,833,400...49,921,550
JBrowse link
G Cemip2 cell migration inducing hyaluronidase 2 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 1:239,397,322...239,474,931
Ensembl chr 1:239,398,043...239,474,931
JBrowse link
G Champ1 chromosome alignment maintaining phosphoprotein 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr16:80,839,373...80,850,340
Ensembl chr16:80,839,374...80,850,340
JBrowse link
G Chd7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 5:21,769,087...21,952,036
Ensembl chr 5:21,830,882...21,950,696
JBrowse link
G Chek2 checkpoint kinase 2 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:12533788, PMID:15087378, PMID:15095295, PMID:15492928, PMID:15810020, PMID:17085682, PMID:19030985, PMID:21876083, PMID:23296741, PMID:24713400, PMID:25583358, PMID:25741868, PMID:26446916, PMID:26467025, PMID:26822949, PMID:26845104, PMID:27153395, PMID:27616075, PMID:27751358, PMID:28211887, PMID:28492532, PMID:28727877, PMID:28802053, PMID:29902706, PMID:29958926, PMID:30311386, PMID:31843900 NCBI chr12:51,845,574...51,878,098
Ensembl chr12:51,845,796...51,877,624
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
JBrowse link
G Chrng cholinergic receptor nicotinic gamma subunit ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:16826531, PMID:22167768, PMID:24038971, PMID:25608830, PMID:25741868, PMID:25957469, PMID:26752647, PMID:27245440, PMID:30311386 NCBI chr 9:94,302,218...94,308,591 JBrowse link
G Col11a1 collagen type XI alpha 1 chain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 2:216,863,423...217,056,523
Ensembl chr 2:216,863,428...217,056,523
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:8364588, PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 4:31,534,225...31,569,152
Ensembl chr 4:31,534,225...31,569,151
JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997
JBrowse link
G Col3a1 collagen type III alpha 1 chain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 9:52,023,295...52,059,221
Ensembl chr 9:52,023,295...52,059,217
JBrowse link
G Col5a1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:6,430,180...6,581,010
Ensembl chr 3:6,430,201...6,578,882
JBrowse link
G Col5a2 collagen type V alpha 2 chain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 9:52,091,088...52,238,735
Ensembl chr 9:52,092,511...52,238,564
JBrowse link
G Col6a3 collagen type VI alpha 3 chain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 9:97,926,784...98,004,643
Ensembl chr 9:97,926,787...98,004,546
JBrowse link
G Col9a1 collagen type IX alpha 1 chain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 9:30,419,001...30,502,307
Ensembl chr 9:30,419,001...30,502,298
JBrowse link
G Coq8a coenzyme Q8A ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr13:98,451,629...98,480,438
Ensembl chr13:98,451,637...98,480,419
JBrowse link
G Cplane1 ciliogenesis and planar polarity effector 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25407461, PMID:25741868, PMID:26092869, PMID:28125082, PMID:28492532, PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link
G Cpt2 carnitine palmitoyltransferase 2 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:10090476, PMID:12673791, PMID:12707442, PMID:15642848, PMID:16615913, PMID:18550408, PMID:18925671, PMID:24398345, PMID:24602495, PMID:25741868, PMID:26467025, PMID:28492532, PMID:30311386 NCBI chr 5:127,505,646...127,523,016
Ensembl chr 5:127,505,614...127,523,089
JBrowse link
G Ddr2 discoidin domain receptor tyrosine kinase 2 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr13:88,311,639...88,436,561
Ensembl chr13:88,317,145...88,436,789
JBrowse link
G Diaph1 diaphanous-related formin 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr18:30,972,907...31,071,371
Ensembl chr18:30,972,907...31,071,371
JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 5:173,295,948...173,308,014
Ensembl chr 5:173,296,270...173,307,945
JBrowse link
G Efnb1 ephrin B1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15166289 NCBI chr  X:68,891,227...68,904,034
Ensembl chr  X:68,891,227...68,904,038
JBrowse link
G Ehmt1 euchromatic histone lysine methyltransferase 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 3:1,966,974...2,123,858
Ensembl chr 3:1,960,957...2,123,820
JBrowse link
G Eln elastin ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:9215670, PMID:11175284, PMID:24033266, PMID:25741868, PMID:28492532 NCBI chr12:24,978,478...25,021,864
Ensembl chr12:24,978,483...25,021,863
JBrowse link
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:11309364, PMID:11431688, PMID:12552561, PMID:12731001, PMID:16098226, PMID:25741868, PMID:27431685, PMID:28321846, PMID:28492532, PMID:29618921 NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr14:78,128,620...78,212,394
Ensembl chr14:78,129,749...78,211,931
JBrowse link
G Eya1 EYA transcriptional coactivator and phosphatase 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:24033266, PMID:26310487, PMID:28492532, PMID:30311386 NCBI chr 5:4,275,728...4,495,525
Ensembl chr 5:4,373,626...4,513,142
JBrowse link
G Fbn1 fibrillin 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 3:117,569,708...117,766,160
Ensembl chr 3:117,569,697...117,766,120
JBrowse link
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr18:53,068,495...53,272,254
Ensembl chr18:53,068,495...53,181,503
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:7668257, PMID:7719344, PMID:7874170, PMID:8651276, PMID:9677057, PMID:9700203, PMID:11390973, PMID:11781872, PMID:12124745, PMID:12884424, PMID:15389579, PMID:16969861, PMID:17251833, PMID:20489451, PMID:20643727, PMID:23348274, PMID:23754559, PMID:23786770, PMID:24656465, PMID:25271085, PMID:25741868, PMID:25867380, PMID:27228464, PMID:27683237, PMID:28492532, PMID:30311386, PMID:31145570 NCBI chr 1:200,590,951...200,696,946
Ensembl chr 1:200,590,953...200,696,928
JBrowse link
G Fh fumarate hydratase ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr13:93,651,486...93,677,371
Ensembl chr13:93,651,484...93,677,377
JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868, PMID:30311386 NCBI chr15:18,750,152...18,883,019
Ensembl chr15:18,750,118...18,883,005
JBrowse link
G Foxc1 forkhead box C1 ISO associated with Axenfeld-Rieger Syndrome;DNA:deletion:cds:437-453del17(human) RGD PMID:17653043 RGD:12904051 NCBI chr17:33,947,501...33,951,484
Ensembl chr17:33,947,506...33,951,484
JBrowse link
G Gatad2b GATA zinc finger domain containing 2B ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 2:189,654,871...189,735,056
Ensembl chr 2:189,655,702...189,733,540
JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 2:53,149,225...53,413,954
Ensembl chr 2:53,150,370...53,413,638
JBrowse link
G Gli3 GLI family zinc finger 3 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr17:52,294,942...52,569,036
Ensembl chr17:52,294,942...52,569,036
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr10:5,707,806...6,123,568
Ensembl chr10:5,930,298...6,119,990
JBrowse link
G Hdac8 histone deacetylase 8 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr  X:72,163,777...72,370,058
Ensembl chr  X:72,163,777...72,370,044
JBrowse link
G Hspa9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:26598328, PMID:30311386 NCBI chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235
JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 3:130,079,361...130,114,781
Ensembl chr 3:130,079,361...130,114,770
JBrowse link
G Kat6b lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr15:2,811,933...2,966,833
Ensembl chr15:2,813,537...2,966,576
JBrowse link
G Kcnq5 potassium voltage-gated channel subfamily Q member 5 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 9:27,565,869...28,141,114
Ensembl chr 9:27,562,959...27,761,733
JBrowse link
G Kmt2d lysine methyltransferase 2D ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 7:140,507,137...140,542,479
Ensembl chr 7:140,489,492...140,546,908
JBrowse link
G Krt83 keratin 83 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 7:143,078,996...143,085,833
Ensembl chr 7:143,078,996...143,085,833
JBrowse link
G Lamp2 lysosomal-associated membrane protein 2 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr  X:124,722,628...124,766,079
Ensembl chr  X:124,722,628...124,766,044
JBrowse link
G Lars2 leucyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:23541342, PMID:30311386 NCBI chr 8:132,441,277...132,537,176
Ensembl chr 8:132,441,285...132,536,369
JBrowse link
G Macf1 microtubule-actin crosslinking factor 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 5:141,039,455...141,363,524
Ensembl chr 5:141,039,468...141,363,524
JBrowse link
G Masp1 mannan-binding lectin serine peptidase 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr11:80,736,424...80,806,278
Ensembl chr11:80,736,576...80,803,382
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr  X:156,650,389...156,713,813
Ensembl chr  X:156,655,960...156,705,233
JBrowse link
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:18414213, PMID:28492532, PMID:30311386 NCBI chr  X:71,174,653...71,197,812
Ensembl chr  X:71,174,699...71,197,812
JBrowse link
G Megf8 multiple EGF-like-domains 8 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 1:82,184,671...82,234,045
Ensembl chr 1:82,185,034...82,234,045
JBrowse link
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr  X:25,458,782...25,839,941
Ensembl chr  X:25,458,771...25,628,272
JBrowse link
G Mipep mitochondrial intermediate peptidase ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr15:41,084,180...41,192,621
Ensembl chr15:41,084,206...41,190,005
JBrowse link
G Mllt1 MLLT1, super elongation complex subunit ISO ClinVar Annotator: match by term: Hypertelorism ClinVar NCBI chr 9:10,110,389...10,155,305
Ensembl chr 9:10,110,389...10,155,302
JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:1436530, PMID:1539598, PMID:1550128, PMID:2137962, PMID:8042671, PMID:8095070, PMID:8250532, PMID:8395787, PMID:9199572, PMID:9329425, PMID:9556461, PMID:9883875, PMID:10590437, PMID:10660580, PMID:10676807, PMID:10889120, PMID:11076946, PMID:11371515, PMID:11730668, PMID:11751691, PMID:11843698, PMID:11925565, PMID:14998933, PMID:17452590, PMID:19667215, PMID:24088041, PMID:25741868, PMID:26633545, PMID:32313153 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
JBrowse link
G Mthfr methylenetetrahydrofolate reductase ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 5:164,844,642...164,864,360
Ensembl chr 5:164,845,925...164,860,910
JBrowse link
G Mutyh mutY DNA glycosylase ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:16134147, PMID:16287072, PMID:16455870, PMID:16557584, PMID:17081686, PMID:17949294, PMID:18534194, PMID:19279422, PMID:19394335, PMID:19732775, PMID:23108399, PMID:24444654, PMID:24569162, PMID:25741868, PMID:25820570, PMID:25980754, PMID:26446593, PMID:26467025, PMID:26556299, PMID:27870730, PMID:28152038, PMID:28492532, PMID:29406563, PMID:30311386 NCBI chr 5:135,663,328...135,675,348
Ensembl chr 5:135,663,371...135,675,344
JBrowse link
G Myh10 myosin heavy chain 10 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar NCBI chr10:55,274,910...55,406,738
Ensembl chr10:55,275,411...55,406,732
JBrowse link
G Nf1 neurofibromin 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:21520333, PMID:24033266, PMID:24728327, PMID:28492532, PMID:30311386 NCBI chr10:66,732,460...66,928,706
Ensembl chr10:66,690,133...66,928,903
JBrowse link
G Nsd1 nuclear receptor binding SET domain protein 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:12807965, PMID:15942875, PMID:17565729, PMID:18414213, PMID:21196496, PMID:24412544, PMID:25741868, PMID:26690673, PMID:27834868, PMID:28492532, PMID:30311386 NCBI chr17:9,840,859...9,955,391
Ensembl chr17:9,844,133...9,952,898
JBrowse link
G Obsl1 obscurin like cytoskeletal adaptor 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 9:82,673,871...82,699,577
Ensembl chr 9:82,680,384...82,699,551
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:11309364, PMID:11431688, PMID:12552561, PMID:12731001, PMID:16098226, PMID:25741868, PMID:27431685, PMID:28321846, PMID:28492532, PMID:29618921 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:19142205, PMID:19877282, PMID:22871920, PMID:24016303, PMID:25741868, PMID:27302843, PMID:28492532, PMID:30311386 NCBI chr 9:16,568,743...16,580,900
Ensembl chr 9:16,566,688...16,581,078
JBrowse link
G Phka1 phosphorylase kinase regulatory subunit alpha 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr  X:72,377,020...72,515,385
Ensembl chr  X:72,377,021...72,515,366
JBrowse link
G Pigl phosphatidylinositol glycan anchor biosynthesis, class L ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:3041916, PMID:7666399, PMID:8893234, PMID:18414213, PMID:22444671, PMID:23561846, PMID:24784135, PMID:25250048, PMID:25741868, PMID:28371479, PMID:28492532, PMID:30311386 NCBI chr10:48,774,018...48,831,848
Ensembl chr10:48,773,828...48,831,855
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
JBrowse link
G Pik3ca phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868, PMID:26619011, PMID:27631024, PMID:28492532, PMID:31568861 NCBI chr 2:118,831,350...118,861,456
Ensembl chr 2:118,831,350...118,861,454
JBrowse link
G Plcb4 phospholipase C, beta 4 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 3:128,601,163...128,971,720
Ensembl chr 3:128,756,799...128,971,746
JBrowse link
G Pms2 PMS1 homolog 2, mismatch repair system component ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:24033266, PMID:25741868, PMID:25856668, PMID:28152038, PMID:28492532, PMID:30311386 NCBI chr12:12,714,394...12,738,654
Ensembl chr12:12,714,394...12,738,641
JBrowse link
G Pogz pogo transposable element derived with ZNF domain ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 2:195,995,322...196,041,500
Ensembl chr 2:195,996,521...196,041,497
JBrowse link
G Prom1 prominin 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr14:71,532,321...71,637,400
Ensembl chr14:71,533,063...71,637,417
JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr17:1,032,242...1,085,885
Ensembl chr17:1,029,048...1,093,873
JBrowse link
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:11992261, PMID:12058348, PMID:12161596, PMID:14634749, PMID:15121796, PMID:15389709, PMID:15520399, PMID:16053901, PMID:16358218, PMID:16377799, PMID:16638574, PMID:16679933, PMID:17020470, PMID:18372317, PMID:18849586, PMID:19725129, PMID:19768645, PMID:20308328, PMID:21339643, PMID:21747628, PMID:22681964, PMID:22822385, PMID:23673659, PMID:24033266, PMID:24401936, PMID:24775816, PMID:24820750, PMID:24935154, PMID:25731833, PMID:25741868, PMID:25917897, PMID:26337637, PMID:26918529, PMID:28483241, PMID:28492532, PMID:29276006, PMID:30311386 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:2660074, PMID:3078962, PMID:7536460, PMID:7824936, PMID:7845675, PMID:7906417, PMID:7906866, PMID:7911697, PMID:7977365, PMID:8570194, PMID:8595427, PMID:8782503, PMID:8797874, PMID:8880581, PMID:8918855, PMID:9242375, PMID:9620546, PMID:9681850, PMID:9839497, PMID:10369718, PMID:10445857, PMID:10679286, PMID:11351254, PMID:15277225, PMID:15281979, PMID:16715139, PMID:17108110, PMID:17848262, PMID:18073307, PMID:18209889, PMID:18252215, PMID:18541894, PMID:19041016, PMID:19240193, PMID:19255327, PMID:20065189, PMID:20368568, PMID:20516206, PMID:20847059, PMID:21253810, PMID:21422803, PMID:21455200, PMID:21470995, PMID:21765987, PMID:21810974, PMID:22025146, PMID:22199277, PMID:22233172, PMID:22359510, PMID:22676344, PMID:22992277, PMID:23056499, PMID:25157968, PMID:25741868, PMID:26084817, PMID:26467025, PMID:27539324, PMID:27807060, PMID:28492532 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:24033266, PMID:25741868, PMID:26518681, PMID:27101134, PMID:28492532, PMID:28554332, PMID:29734338 NCBI chr 2:188,087,486...188,099,444
Ensembl chr 2:188,087,486...188,099,444
JBrowse link
G Rps6ka3 ribosomal protein S6 kinase A3 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr  X:37,469,736...37,576,055
Ensembl chr  X:37,469,937...37,575,624
JBrowse link
G Scn1a sodium voltage-gated channel alpha subunit 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868, PMID:30311386 NCBI chr 3:52,388,811...52,533,365
Ensembl chr 3:52,381,975...52,510,507
JBrowse link
G Sec23b Sec23 homolog B, COPII coat complex component ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:19561605, PMID:19621418, PMID:25044164, PMID:28492532, PMID:30311386 NCBI chr 3:138,715,118...138,757,111
Ensembl chr 3:138,715,570...138,757,111
JBrowse link
G Set SET nuclear proto-oncogene ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr19:58,420,635...58,422,153
Ensembl chr19:58,419,961...58,421,504
JBrowse link
G Setd2 SET domain containing 2, histone lysine methyltransferase ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 8:118,802,478...118,888,224
Ensembl chr 8:118,803,075...118,888,224
JBrowse link
G Sim1 SIM bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr20:55,590,810...55,674,002
Ensembl chr20:55,594,676...55,673,995
JBrowse link
G Ski SKI proto-oncogene ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:23023332, PMID:24357594, PMID:28492532, PMID:30311386 NCBI chr 5:172,556,196...172,623,878
Ensembl chr 5:172,559,135...172,623,899
JBrowse link
G Slc12a6 solute carrier family 12, member 6 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868 NCBI chr 3:103,752,213...103,852,686
Ensembl chr 3:103,753,238...103,852,686
JBrowse link
G Slc25a3 solute carrier family 25 member 3 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 7:31,816,601...31,824,064
Ensembl chr 7:31,816,602...31,824,071
JBrowse link
G Slc6a8 solute carrier family 6 member 8 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr  X:157,129,987...157,139,321
Ensembl chr  X:157,129,987...157,139,291
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:11532986, PMID:12552563, PMID:15300850, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464
JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868, PMID:30311386 NCBI chr17:24,653,342...24,670,457
Ensembl chr17:24,654,902...24,670,457
JBrowse link
G Tfap2b transcription factor AP-2 beta ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868, PMID:30311386 NCBI chr 9:25,410,669...25,440,568
Ensembl chr 9:25,410,669...25,440,411
JBrowse link
G Toe1 target of EGR1, exonuclease ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 5:135,659,733...135,663,299
Ensembl chr 5:135,659,734...135,663,299
JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:30311386 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214
JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr 7:74,118,834...74,722,341 JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Hypertelorism ClinVar PMID:19559398, PMID:22581971, PMID:28492532, PMID:30311386 NCBI chr 9:82,053,581...82,066,047
Ensembl chr 9:82,053,581...82,066,047
JBrowse link
Barber-Say syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Barber-Say syndrome ClinVar
OMIM
PMID:1867254, PMID:8368246, PMID:9674915, PMID:16650233, PMID:19760652, PMID:20799330, PMID:20830793, PMID:26119818 NCBI chr 9:98,924,134...98,968,510
Ensembl chr 9:98,924,134...98,968,510
JBrowse link
Brachycephalofrontonasal Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Brachycephalofrontonasal dysplasia
ClinVar Annotator: match by term: Hypertelorism, Teebi type
ClinVar
OMIM
PMID:17506099, PMID:25412741, PMID:25741868, PMID:25741869, PMID:26111080, PMID:28492532 NCBI chr20:14,287,470...14,393,879
Ensembl chr20:14,287,457...14,393,793
JBrowse link
Frontonasal Dysplasia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx3 ALX homeobox 3 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 1
ClinVar Annotator: match by OMIM:136760
OMIM
ClinVar
PMID:17963218, PMID:19409524, PMID:25741868 NCBI chr 2:210,376,510...210,386,928
Ensembl chr 2:210,381,829...210,386,928
JBrowse link
Frontonasal Dysplasia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx4 ALX homeobox 4 ISO ClinVar Annotator: match by null
ClinVar Annotator: match by OMIM:613451
ClinVar Annotator: match by term: Frontonasal dysplasia 2
OMIM
ClinVar
PMID:11017806, PMID:11106354, PMID:11137991, PMID:16319823, PMID:19692347, PMID:22140057, PMID:22829454, PMID:24668755, PMID:25741868 NCBI chr 3:82,548,959...82,585,531
Ensembl chr 3:82,548,959...82,585,531
JBrowse link
Frontonasal Dysplasia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 3
ClinVar Annotator: match by OMIM:613456
OMIM
ClinVar
PMID:20451171, PMID:24467814, PMID:27324866, PMID:28492532 NCBI chr 7:44,751,865...44,771,458
Ensembl chr 7:44,751,873...44,771,458
JBrowse link
Gillessen-Kaesbach-Nishimura Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg9 ALG9, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Gillessen-kaesbach-nishimura syndrome ClinVar
OMIM
PMID:25741868, PMID:25966638 NCBI chr 8:55,202,140...55,265,478
Ensembl chr 8:55,202,725...55,265,478
JBrowse link
Hamamy Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irx5 iroquois homeobox 5 ISO ClinVar Annotator: match by OMIM:611174 OMIM
ClinVar
PMID:17230486, PMID:22581230 NCBI chr19:16,415,813...16,421,088
Ensembl chr19:16,415,636...16,421,191
JBrowse link
Hyperphosphatasia with Mental Retardation Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pigb phosphatidylinositol glycan anchor biosynthesis, class B ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25326635, PMID:25741868, PMID:31256876 NCBI chr 8:79,691,407...79,715,284
Ensembl chr 8:79,691,407...79,715,284
JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25741868, PMID:26996948, PMID:28492532 NCBI chr14:2,410,339...2,438,630
Ensembl chr14:2,410,342...2,438,592
JBrowse link
G Pigo phosphatidylinositol glycan anchor biosynthesis, class O ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1 ClinVar PMID:25741868 NCBI chr 5:58,461,055...58,470,699
Ensembl chr 5:58,461,759...58,469,399
JBrowse link
G Pigv phosphatidylinositol glycan anchor biosynthesis, class V ISO ClinVar Annotator: match by term: Hyperphosphatasia with mental retardation syndrome 1
ClinVar Annotator: match by OMIM:239300
OMIM
ClinVar
PMID:1724113, PMID:17351347, PMID:20578257, PMID:20802478, PMID:21739589, PMID:22228761, PMID:22315194, PMID:24033266, PMID:24129430, PMID:24439110, PMID:25741868, PMID:26467025, PMID:27166760, PMID:28492532 NCBI chr 5:151,886,132...151,899,024
Ensembl chr 5:151,886,035...151,898,022
JBrowse link
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnk cyclin K ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES ClinVar
OMIM
PMID:30122539 NCBI chr 6:132,090,235...132,113,560
Ensembl chr 6:132,090,218...132,113,557
JBrowse link
Marles Greenberg Persaud Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frem1 Fras1 related extracellular matrix 1 ISO ClinVar Annotator: match by term: Manitoba Trichoanal syndrome
ClinVar Annotator: match by term: Marles Greenberg Persaud syndrome
ClinVar Annotator: match by OMIM:248450
DNA:mutation:splice junction:
DNA:deletion,frameshift,missense mutations:exons,cds:
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11332973, PMID:17352387, PMID:21507892, PMID:21931569, PMID:23112756, PMID:23221805, PMID:23333812, PMID:23806086, PMID:24088041, PMID:24115501, PMID:25736269, PMID:25741868, PMID:26893459, PMID:28492532, PMID:21507892, PMID:21507892 RGD:11070482, RGD:11070482 NCBI chr 5:101,018,009...101,166,794
Ensembl chr 5:101,020,448...101,166,651
JBrowse link
Opitz GBBB syndrome type I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO ClinVar Annotator: match by term: Opitz GBBB syndrome, type I
ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I
OMIM
ClinVar
PMID:9354791, PMID:11030761, PMID:12545276, PMID:15558842, PMID:17221865, PMID:18360914, PMID:18949047, PMID:21326312, PMID:23757202, PMID:25207814, PMID:25741868, PMID:25874572, PMID:26064728, PMID:26788540, PMID:28492532 NCBI chr  X:25,458,782...25,839,941
Ensembl chr  X:25,458,771...25,628,272
JBrowse link
Opitz GBBB syndrome type II term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Opitz GBBB syndrome, type II OMIM
ClinVar
PMID:3228142, PMID:25412741, PMID:25741868 NCBI chr20:14,287,470...14,393,879
Ensembl chr20:14,287,457...14,393,793
JBrowse link
Opitz-GBBB syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISS
ISO
OMIM:145410 | OMIM:300000
ClinVar Annotator: match by term: TELECANTHUS-HYPOSPADIAS SYNDROME
MouseDO
ClinVar
PMID:25741868, PMID:28492532 NCBI chr  X:25,458,782...25,839,941
Ensembl chr  X:25,458,771...25,628,272
JBrowse link
Roberts syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esco2 establishment of sister chromatid cohesion N-acetyltransferase 2 ISO ClinVar Annotator: match by term: Roberts-SC phocomelia syndrome
ClinVar Annotator: match by OMIM:269000
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:268300
DNA:deletion:exon
DNA:frameshift mutations, missense mutation, nonsense mutation:multiple
OMIM
ClinVar
CTD
PMID:495649, PMID:1642282, PMID:3740099, PMID:15821733, PMID:16380922, PMID:18186147, PMID:18411254, PMID:18414213, PMID:19574259, PMID:20101700, PMID:20301332, PMID:24098154, PMID:24864645, PMID:25741868, PMID:28492532, PMID:31192177, PMID:18186147, PMID:15821733 RGD:11535978, RGD:11535977 NCBI chr15:42,500,929...42,519,019
Ensembl chr15:42,500,929...42,518,855
JBrowse link
Schwartz-Lelek Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO DNA:missense mutation: :c.716G>A (p.R239Q) (human) RGD PMID:23951358 RGD:8662399 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link
syndactyly-telecanthus-anogenital and renal malformations syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnq cyclin Q ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:300707
OMIM
CTD
ClinVar
PMID:8818947, PMID:18297069 NCBI chr10:66,019,519...66,020,682
Ensembl chr10:66,019,520...66,020,682
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        Musculoskeletal Abnormalities 1759
          Craniofacial Abnormalities 1459
            Hypertelorism 118
              Acrootoocular Syndrome 0
              Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 0
              Bagatelle Cassidy syndrome 0
              Barber-Say syndrome 1
              Brachycephalofrontonasal Dysplasia 1
              Camptodactyly Syndrome Guadalajara Type 2 0
              Camptodactyly Syndrome Guadalajara Type 3 0
              De Hauwere Leroy Adriaenssens syndrome 0
              De Hauwere syndrome 0
              Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 0
              Frontonasal Dysplasia 1 1
              Frontonasal Dysplasia 2 1
              Frontonasal Dysplasia 3 1
              Gastrocutaneous Syndrome 0
              Gillessen-Kaesbach-Nishimura Dysplasia 1
              HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 0
              Hamamy Syndrome 1
              Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
              Hyperphosphatasia with Mental Retardation Syndrome 1 4
              Hypertelorism and Tetralogy of Fallot 0
              Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 0
              INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 1
              Krauss Herman Holmes Syndrome 0
              Marles Greenberg Persaud Syndrome 1
              Naguib-Richieri-Costa Syndrome 0
              Opitz-GBBB syndrome + 2
              Roberts syndrome 1
              Santos Mateus Leal Syndrome 0
              Schwartz-Lelek Syndrome 1
              Seaver Cassidy Syndrome 0
              chromosome 6pter-p24 deletion syndrome 0
              syndactyly-telecanthus-anogenital and renal malformations syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Craniofacial Abnormalities 1459
              Hypertelorism 118
                Acrootoocular Syndrome 0
                Atrial Septal Defect, Secundum, with Various Cardiac and Noncardiac Defects 0
                Bagatelle Cassidy syndrome 0
                Barber-Say syndrome 1
                Brachycephalofrontonasal Dysplasia 1
                Camptodactyly Syndrome Guadalajara Type 2 0
                Camptodactyly Syndrome Guadalajara Type 3 0
                De Hauwere Leroy Adriaenssens syndrome 0
                De Hauwere syndrome 0
                Facial Abnormalities, Kyphoscoliosis, and Mental Retardation 0
                Frontonasal Dysplasia 1 1
                Frontonasal Dysplasia 2 1
                Frontonasal Dysplasia 3 1
                Gastrocutaneous Syndrome 0
                Gillessen-Kaesbach-Nishimura Dysplasia 1
                HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS 0
                Hamamy Syndrome 1
                Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness 0
                Hyperphosphatasia with Mental Retardation Syndrome 1 4
                Hypertelorism and Tetralogy of Fallot 0
                Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss 0
                INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 1
                Krauss Herman Holmes Syndrome 0
                Marles Greenberg Persaud Syndrome 1
                Naguib-Richieri-Costa Syndrome 0
                Opitz-GBBB syndrome + 2
                Roberts syndrome 1
                Santos Mateus Leal Syndrome 0
                Schwartz-Lelek Syndrome 1
                Seaver Cassidy Syndrome 0
                chromosome 6pter-p24 deletion syndrome 0
                syndactyly-telecanthus-anogenital and renal malformations syndrome 1
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.