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ONTOLOGY REPORT - ANNOTATIONS


Term:Macrotia
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Accession:HP:0000400 term browser browse the term
Definition:Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).
Comment:This is acknowledged to be a bundled term but retained here because of its usefulness in practice. Ear length is determined by the maximal distance from the superior aspect to the inferior aspect of the external ear. If only length is increased the term Long ear should be used.
Synonyms:exact_synonym: Large ears;   Large pinnae
 alt_id: HP:0000382;   HP:0000386;   HP:0000401;   HP:0001755
 xref: SNOMEDCT_US:275480001;   SNOMEDCT_US:69056000;   UMLS:C0152421;   UMLS:C0554972;   UMLS:C1835581;   UMLS:C1848570;   UMLS:C1850189;   UMLS:C1855062;   UMLS:C1860838


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Macrotia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTSL1 ADAMTS like 1 JBrowse link 9 17,906,515 18,910,950 RGD:8699517
G AEBP1 AE binding protein 1 JBrowse link 7 44,104,320 44,114,564 RGD:8699517
G AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2 JBrowse link 9 136,673,143 136,687,457 RGD:8699517
G AHSG alpha 2-HS glycoprotein JBrowse link 3 186,613,060 186,621,318 RGD:8699517
G AIP aryl hydrocarbon receptor interacting protein JBrowse link 11 67,468,179 67,491,108 RGD:8699517
G AKT1 AKT serine/threonine kinase 1 JBrowse link 14 104,769,349 104,795,748 RGD:8699517
G ALG3 ALG3 alpha-1,3- mannosyltransferase JBrowse link 3 184,242,301 184,258,301 RGD:8699517
G ANKRD11 ankyrin repeat domain 11 JBrowse link 16 89,267,619 89,490,561 RGD:8699517
G AP1S2 adaptor related protein complex 1 subunit sigma 2 JBrowse link X 15,825,806 15,854,966 RGD:8699517
G AP3D1 adaptor related protein complex 3 subunit delta 1 JBrowse link 19 2,100,988 2,151,620 RGD:8699517
G APC2 APC regulator of WNT signaling pathway 2 JBrowse link 19 1,446,268 1,473,244 RGD:8699517
G ASNS asparagine synthetase (glutamine-hydrolyzing) JBrowse link 7 97,851,677 97,928,441 RGD:8699517
G ATP6V1A ATPase H+ transporting V1 subunit A JBrowse link 3 113,747,035 113,812,056 RGD:8699517
G BAZ1B bromodomain adjacent to zinc finger domain 1B JBrowse link 7 73,440,406 73,522,293 RGD:8699517
G BMP4 bone morphogenetic protein 4 JBrowse link 14 53,949,736 53,956,891 RGD:8699517
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 7 140,719,331 140,924,929 RGD:8699517
G BRWD3 bromodomain and WD repeat domain containing 3 JBrowse link X 80,669,503 80,809,877 RGD:8699517
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin JBrowse link 11 62,690,262 62,709,619 RGD:8699517
G CASK calcium/calmodulin dependent serine protein kinase JBrowse link X 41,514,934 41,923,554 RGD:8699517
G CBL Cbl proto-oncogene JBrowse link 11 119,206,339 119,308,149 RGD:8699517
G CEP120 centrosomal protein 120 JBrowse link 5 123,344,885 123,423,592 RGD:8699517
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit JBrowse link 2 174,747,592 174,764,472 RGD:8699517
G CHRNA7 cholinergic receptor nicotinic alpha 7 subunit JBrowse link 15 32,030,462 32,173,018 RGD:8699517
G CIT citron rho-interacting serine/threonine kinase JBrowse link 12 119,685,791 119,877,320 RGD:8699517
G CLIC2 chloride intracellular channel 2 JBrowse link X 155,276,211 155,334,614 RGD:8699517
G CLIP2 CAP-Gly domain containing linker protein 2 JBrowse link 7 74,289,407 74,405,943 RGD:8699517
G CTU2 cytosolic thiouridylase subunit 2 JBrowse link 16 88,706,481 88,715,396 RGD:8699517
G CWC27 CWC27 spliceosome associated cyclophilin JBrowse link 5 64,768,918 65,018,763 RGD:8699517
G CXorf56 chromosome X open reading frame 56 JBrowse link X 119,538,149 119,565,409 RGD:8699517
G DENND5A DENN domain containing 5A JBrowse link 11 9,138,825 9,265,350 RGD:8699517
G DPF2 double PHD fingers 2 JBrowse link 11 65,333,840 65,354,262 RGD:8699517
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A JBrowse link 21 37,365,573 37,526,358 RGD:8699517
G DZIP1L DAZ interacting zinc finger protein 1 like JBrowse link 3 138,061,990 138,115,862 RGD:8699517
G EED embryonic ectoderm development JBrowse link 11 86,244,384 86,285,420 RGD:8699517
G EIF2S3 eukaryotic translation initiation factor 2 subunit gamma JBrowse link X 24,054,956 24,078,810 RGD:8699517
G ELN elastin JBrowse link 7 74,027,772 74,069,907 RGD:8699517
G EYA1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 8 71,197,433 71,548,104 RGD:8699517
G EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit JBrowse link 7 148,807,374 148,884,344 RGD:8699517
G FAR1 fatty acyl-CoA reductase 1 JBrowse link 11 13,668,666 13,732,346 RGD:8699517
G FGFR2 fibroblast growth factor receptor 2 JBrowse link 10 121,478,330 121,598,458 RGD:8699517
G FIBP FGF1 intracellular binding protein JBrowse link 11 65,883,740 65,888,510 RGD:8699517
G FLNA filamin A JBrowse link X 154,348,531 154,374,638 RGD:8699517
G FMR1 FMRP translational regulator 1 JBrowse link X 147,911,919 147,951,127 RGD:8699517
G FTSJ1 FtsJ RNA 2'-O-methyltransferase 1 JBrowse link X 48,476,021 48,486,364 RGD:8699517
G GLI2 GLI family zinc finger 2 JBrowse link 2 120,735,865 120,992,653 RGD:8699517
G GPR101 G protein-coupled receptor 101 JBrowse link X 137,030,148 137,031,674 RGD:8699517
G GRIA4 glutamate ionotropic receptor AMPA type subunit 4 JBrowse link 11 105,609,540 105,982,092 RGD:8699517
G GTF2I general transcription factor IIi JBrowse link 7 74,657,665 74,760,692 RGD:8699517
G GTF2IRD1 GTF2I repeat domain containing 1 JBrowse link 7 74,453,906 74,603,070 RGD:8699517
G HDAC8 histone deacetylase 8 JBrowse link X 72,329,516 72,573,103 RGD:8699517
G HECW2 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 JBrowse link 2 196,194,072 196,593,692 RGD:8699517
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 15 63,608,618 63,833,948 RGD:8699517
G HHAT hedgehog acyltransferase JBrowse link 1 210,327,873 210,676,298 RGD:8699517
G INSR insulin receptor JBrowse link 19 7,112,257 7,294,414 RGD:8699517
G ITGA3 integrin subunit alpha 3 JBrowse link 17 50,056,065 50,090,481 RGD:8699517
G ITGB6 integrin subunit beta 6 JBrowse link 2 160,099,666 160,200,313 RGD:8699517
G JAG1 jagged canonical Notch ligand 1 JBrowse link 20 10,637,684 10,673,999 RGD:8699517
G KANSL1 KAT8 regulatory NSL complex subunit 1 JBrowse link 17 46,027,335 46,225,374 RGD:8699517
G KCNJ1 potassium inwardly rectifying channel subfamily J member 1 JBrowse link 11 128,836,315 128,867,373 RGD:8699517
G KDM5C lysine demethylase 5C JBrowse link X 53,176,277 53,225,422 RGD:8699517
G KDM6A lysine demethylase 6A JBrowse link X 44,873,175 45,112,612 RGD:8699517
G KIF1A kinesin family member 1A JBrowse link 2 240,713,764 240,820,308 RGD:8699517
G KIFBP kinesin family binding protein JBrowse link 10 68,988,803 69,016,982 RGD:8699517
G KMT2A lysine methyltransferase 2A JBrowse link 11 118,436,490 118,526,832 RGD:8699517
G KMT2D lysine methyltransferase 2D JBrowse link 12 49,018,975 49,060,884 RGD:8699517
G LAGE3 L antigen family member 3 JBrowse link X 154,477,769 154,479,257 RGD:8699517
G LIMK1 LIM domain kinase 1 JBrowse link 7 74,083,804 74,122,525 RGD:8699517
G LMNA lamin A/C JBrowse link 1 156,082,546 156,140,089 RGD:8699517
G MAN2B1 mannosidase alpha class 2B member 1 JBrowse link 19 12,646,508 12,666,777 RGD:8699517
G MAP2K1 mitogen-activated protein kinase kinase 1 JBrowse link 15 66,386,873 66,491,544 RGD:8699517
G MAP2K2 mitogen-activated protein kinase kinase 2 JBrowse link 19 4,090,321 4,124,184 RGD:8699517
G MBTPS2 membrane bound transcription factor peptidase, site 2 JBrowse link X 21,839,617 21,885,423 RGD:8699517
G MECP2 methyl-CpG binding protein 2 JBrowse link X 154,021,573 154,097,731 RGD:8699517
G MED13L mediator complex subunit 13L JBrowse link 12 115,958,576 116,277,219 RGD:8699517
G MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase JBrowse link 14 49,620,799 49,623,481 RGD:8699517
G MGP matrix Gla protein JBrowse link 12 14,880,864 14,885,854 RGD:8699517
G MID2 midline 2 JBrowse link X 107,820,453 107,931,637 RGD:8699517
G MMACHC metabolism of cobalamin associated C JBrowse link 1 45,500,229 45,513,382 RGD:8699517
G MPLKIP M-phase specific PLK1 interacting protein JBrowse link 7 40,126,027 40,134,622 RGD:8699517
G NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit JBrowse link X 153,929,225 153,935,037 RGD:8699517
G NALCN sodium leak channel, non-selective JBrowse link 13 101,053,774 101,417,206 RGD:8699517
G NBN nibrin JBrowse link 8 89,933,336 89,984,724 RGD:8699517
G NDE1 nudE neurodevelopment protein 1 JBrowse link 16 15,643,267 15,726,353 RGD:8699517
G NDP norrin cystine knot growth factor NDP JBrowse link X 43,948,776 43,973,390 RGD:8699517
G NECTIN1 nectin cell adhesion molecule 1 JBrowse link 11 119,638,098 119,729,200 RGD:8699517
G NEXMIF neurite extension and migration factor JBrowse link X 74,732,856 74,925,452 RGD:8699517
G NHS NHS actin remodeling regulator JBrowse link X 17,375,200 17,735,994 RGD:8699517
G NIPBL NIPBL cohesin loading factor JBrowse link 5 36,876,769 37,066,413 RGD:8699517
G NSD1 nuclear receptor binding SET domain protein 1 JBrowse link 5 177,131,835 177,300,213 RGD:11568154
RGD:8699517
G NUP107 nucleoporin 107 JBrowse link 12 68,686,971 68,745,809 RGD:8699517
G NUP133 nucleoporin 133 JBrowse link 1 229,440,259 229,508,342 RGD:8699517
G OPHN1 oligophrenin 1 JBrowse link X 68,042,344 68,433,841 RGD:8699517
G OSGEP O-sialoglycoprotein endopeptidase JBrowse link 14 20,446,401 20,454,812 RGD:8699517
G OTUD6B OTU deubiquitinase 6B JBrowse link 8 91,070,305 91,087,095 RGD:8699517
G PACS1 phosphofurin acidic cluster sorting protein 1 JBrowse link 11 66,070,272 66,244,744 RGD:8699517
G PAK3 p21 (RAC1) activated kinase 3 JBrowse link X 110,944,241 111,227,361 RGD:8699517
G PAX1 paired box 1 JBrowse link 20 21,705,659 21,718,486 RGD:8699517
G PCLO piccolo presynaptic cytomatrix protein JBrowse link 7 82,754,012 83,164,161 RGD:8699517
G PGAP1 post-GPI attachment to proteins inositol deacylase 1 JBrowse link 2 196,833,004 196,926,995 RGD:8699517
G PHF6 PHD finger protein 6 JBrowse link X 134,373,312 134,428,790 RGD:8699517
G PHGDH phosphoglycerate dehydrogenase JBrowse link 1 119,711,934 119,744,218 RGD:8699517
G PHIP pleckstrin homology domain interacting protein JBrowse link 6 78,934,419 79,078,294 RGD:8699517
G PIEZO2 piezo type mechanosensitive ion channel component 2 JBrowse link 18 10,670,237 11,149,585 RGD:8699517
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 JBrowse link 5 68,215,737 68,301,821 RGD:8699517
G PKHD1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin JBrowse link 6 51,614,685 52,087,625 RGD:8699517
G PMM2 phosphomannomutase 2 JBrowse link 16 8,797,813 8,849,326 RGD:8699517
G PPP1CB protein phosphatase 1 catalytic subunit beta JBrowse link 2 28,751,748 28,802,940 RGD:8699517
G PPP1R15B protein phosphatase 1 regulatory subunit 15B JBrowse link 1 204,398,684 204,412,454 RGD:8699517
G PQBP1 polyglutamine binding protein 1 JBrowse link X 48,897,862 48,903,145 RGD:8699517
G PRDX1 peroxiredoxin 1 JBrowse link 1 45,511,035 45,522,890 RGD:8699517
G PRUNE1 prune exopolyphosphatase 1 JBrowse link 1 151,008,405 151,035,713 RGD:8699517
G PSAT1 phosphoserine aminotransferase 1 JBrowse link 9 78,297,125 78,330,093 RGD:8699517
G PSMB8 proteasome 20S subunit beta 8 JBrowse link 6 32,840,717 32,844,679 RGD:8699517
G PTCH1 patched 1 JBrowse link 9 95,442,980 95,517,057 RGD:8699517
G PTDSS1 phosphatidylserine synthase 1 JBrowse link 8 96,261,902 96,336,995 RGD:8699517
G PTEN phosphatase and tensin homolog JBrowse link 10 87,863,625 87,971,930 RGD:8699517
G RAB18 RAB18, member RAS oncogene family JBrowse link 10 27,504,174 27,542,239 RGD:8699517
G RAB3GAP1 RAB3 GTPase activating protein catalytic subunit 1 JBrowse link 2 135,052,281 135,176,667 RGD:8699517
G RAB3GAP2 RAB3 GTPase activating non-catalytic protein subunit 2 JBrowse link 1 220,148,293 220,272,453 RGD:8699517
G RAD21 RAD21 cohesin complex component JBrowse link 8 116,845,934 116,874,776 RGD:8699517
G RAP1A RAP1A, member of RAS oncogene family JBrowse link 1 111,542,009 111,716,695 RGD:8699517
G RAP1B RAP1B, member of RAS oncogene family JBrowse link 12 68,610,899 68,671,901 RGD:8699517
G RBMX RNA binding motif protein X-linked JBrowse link X 136,869,192 136,880,780 RGD:8699517
G RFC2 replication factor C subunit 2 JBrowse link 7 74,231,502 74,254,458 RGD:8699517
G RHOBTB2 Rho related BTB domain containing 2 JBrowse link 8 22,987,251 23,020,199 RGD:8699517
G RMRP RNA component of mitochondrial RNA processing endoribonuclease JBrowse link 9 35,657,751 35,658,018 RGD:8699517
G SALL1 spalt like transcription factor 1 JBrowse link 16 51,135,975 51,151,270 RGD:8699517
G SET SET nuclear proto-oncogene JBrowse link 9 128,683,432 128,696,396 RGD:8699517
G SETD2 SET domain containing 2, histone lysine methyltransferase JBrowse link 3 47,016,408 47,164,113 RGD:8699517
G SETD5 SET domain containing 5 JBrowse link 3 9,397,615 9,478,154 RGD:8699517
G SHANK3 SH3 and multiple ankyrin repeat domains 3 JBrowse link 22 50,674,391 50,733,212 RGD:8699517
G SHOC2 SHOC2 leucine rich repeat scaffold protein JBrowse link 10 110,919,370 111,013,667 RGD:8699517
G SIM1 SIM bHLH transcription factor 1 JBrowse link 6 100,385,009 100,464,929 RGD:8699517
G SIN3A SIN3 transcription regulator family member A JBrowse link 15 75,369,379 75,455,819 RGD:8699517
G SLC12A6 solute carrier family 12 member 6 JBrowse link 15 34,229,784 34,338,057 RGD:8699517
G SLC16A2 solute carrier family 16 member 2 JBrowse link X 74,421,493 74,533,916 RGD:8699517
G SLC2A10 solute carrier family 2 member 10 JBrowse link 20 46,708,358 46,736,347 RGD:8699517
G SLC6A17 solute carrier family 6 member 17 JBrowse link 1 110,150,494 110,202,202 RGD:8699517
G SLC9A6 solute carrier family 9 member A6 JBrowse link X 135,974,596 136,047,269 RGD:8699517
G SMC1A structural maintenance of chromosomes 1A JBrowse link X 53,374,149 53,422,728 RGD:8699517
G SMC3 structural maintenance of chromosomes 3 JBrowse link 10 110,567,691 110,604,634 RGD:8699517
G SNAP29 synaptosome associated protein 29 JBrowse link 22 20,859,007 20,891,214 RGD:8699517
G SSR4 signal sequence receptor subunit 4 JBrowse link X 153,794,159 153,798,512 RGD:8699517
G SUZ12 SUZ12 polycomb repressive complex 2 subunit JBrowse link 17 31,937,007 32,001,040 RGD:8699517
G TAF1 TATA-box binding protein associated factor 1 JBrowse link X 71,366,220 71,530,525 RGD:8699517
G TAZ tafazzin JBrowse link X 154,411,539 154,421,726 RGD:8699517
G TBC1D20 TBC1 domain family member 20 JBrowse link 20 435,480 462,543 RGD:8699517
G TBC1D23 TBC1 domain family member 23 JBrowse link 3 100,260,992 100,325,238 RGD:8699517
G TBCD tubulin folding cofactor D JBrowse link 17 82,752,048 82,945,914 RGD:8699517
G TBL2 transducin beta like 2 JBrowse link 7 73,567,537 73,578,605 RGD:8699517
G TBX22 T-box transcription factor 22 JBrowse link X 80,014,753 80,031,774 RGD:8699517
G TOE1 target of EGR1, exonuclease JBrowse link 1 45,339,751 45,343,973 RGD:8699517
G TP53RK TP53 regulating kinase JBrowse link 20 46,684,365 46,689,444 RGD:8699517
G TPRKB TP53RK binding protein JBrowse link 2 73,729,837 73,737,406 RGD:8699517
G TRIO trio Rho guanine nucleotide exchange factor JBrowse link 5 14,143,342 14,510,204 RGD:8699517
G TRPS1 transcriptional repressor GATA binding 1 JBrowse link 8 115,408,496 115,669,637 RGD:8699517
G TTI2 TELO2 interacting protein 2 JBrowse link 8 33,498,465 33,513,185 RGD:8699517
G UBA1 ubiquitin like modifier activating enzyme 1 JBrowse link X 47,190,847 47,215,128 RGD:8699517
G UBE2A ubiquitin conjugating enzyme E2 A JBrowse link X 119,574,563 119,584,423 RGD:8699517
G WDR4 WD repeat domain 4 JBrowse link 21 42,843,075 42,891,695 RGD:8699517
G WDR73 WD repeat domain 73 JBrowse link 15 84,641,492 84,654,343 RGD:8699517
G YME1L1 YME1 like 1 ATPase JBrowse link 10 27,110,111 27,155,051 RGD:8699517
G ZBTB20 zinc finger and BTB domain containing 20 JBrowse link 3 114,314,500 115,147,288 RGD:8699517
G ZIC2 Zic family member 2 JBrowse link 13 99,981,784 99,986,765 RGD:8699517
G ZMPSTE24 zinc metallopeptidase STE24 JBrowse link 1 40,258,078 40,294,180 RGD:8699517
G ZNF711 zinc finger protein 711 JBrowse link X 85,243,820 85,273,362 RGD:8699517
G ZNHIT3 zinc finger HIT-type containing 3 JBrowse link 17 36,486,627 36,499,312 RGD:8699517
Large fleshy ears term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 JBrowse link 8 20,197,375 20,226,852 RGD:8699517
G COLEC10 collectin subfamily member 10 JBrowse link 8 118,952,233 119,108,455 RGD:8699517
G COLEC11 collectin subfamily member 11 JBrowse link 2 3,594,832 3,644,644 RGD:8699517
G KCNH1 potassium voltage-gated channel subfamily H member 1 JBrowse link 1 210,678,314 211,134,148 RGD:8699517
G MASP1 mannan binding lectin serine peptidase 1 JBrowse link 3 187,216,085 187,293,529 RGD:8699517
G PIGN phosphatidylinositol glycan anchor biosynthesis class N JBrowse link 18 62,041,164 62,187,118 RGD:8699517
G TAPT1 transmembrane anterior posterior transformation 1 JBrowse link 4 16,160,505 16,226,477 RGD:8699517
G TBL1XR1 transducin beta like 1 X-linked receptor 1 JBrowse link 3 177,019,357 177,197,482 RGD:8699517
G TRAPPC9 trafficking protein particle complex 9 JBrowse link 8 139,727,725 140,458,579 RGD:8699517

Term paths to the root
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Term Annotations click to browse term
  Human phenotype 5901
    Phenotypic abnormality 5897
      Abnormality of the ear 1777
        Abnormal ear morphology 1600
          Abnormality of the outer ear 897
            Abnormality of the pinna 556
              Macrotia 176
                Large fleshy ears 9
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.