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ONTOLOGY REPORT - ANNOTATIONS


Term:Facies
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Accession:DOID:9001487 term browser browse the term
Definition:The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
Synonyms:primary_id: MESH:D019066;   RDO:0000297
For additional species annotation, visit the Alliance of Genome Resources.


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Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 2 27,079,336 27,108,981 RGD:11554173
G Aff4 AF4/FMR2 family, member 4 JBrowse link 11 53,350,640 53,421,830 RGD:11554173
G Ccbe1 collagen and calcium binding EGF domains 1 JBrowse link 18 66,056,855 66,291,838 RGD:11554173
G Chd8 chromodomain helicase DNA binding protein 8 JBrowse link 14 52,198,151 52,258,042 RGD:11554173
G Dnmt3a DNA methyltransferase 3A JBrowse link 12 3,801,559 3,914,443 RGD:11554173
G Fmr1 FMRP translational regulator 1 JBrowse link X 68,678,536 68,717,963 RGD:11554173
G Jag1 jagged 1 JBrowse link 2 137,081,451 137,116,520 RGD:11554173
G Msl3 MSL complex subunit 3 JBrowse link X 168,651,267 168,674,354 RGD:11554173
G Tbce tubulin-specific chaperone E JBrowse link 13 13,997,947 14,039,650 RGD:11554173
autosomal dominant mental retardation 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trip12 thyroid hormone receptor interactor 12 JBrowse link 1 84,721,189 84,850,004 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox11 SRY (sex determining region Y)-box 11 JBrowse link 12 27,334,268 27,342,718 RGD:8554872
RGD:7240710
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Foxc1 forkhead box C1 JBrowse link 13 31,806,646 31,810,635 RGD:11554173
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link 4 133,964,739 133,967,991 RGD:13592920
G Pax6 paired box 6 JBrowse link 2 105,668,896 105,698,410 RGD:11554173
G Pitx2 paired-like homeodomain transcription factor 2 JBrowse link 3 129,199,878 129,219,594 RGD:7240710
RGD:8554872
RGD:13592920
RGD:11554173
G Prdm5 PR domain containing 5 JBrowse link 6 65,777,656 65,937,622 RGD:8554872
Ayme-Gripp syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf avian musculoaponeurotic fibrosarcoma oncogene homolog JBrowse link 8 115,703,253 115,706,894 RGD:8554872
RGD:7240710
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 5 142,903,115 142,907,976 RGD:13592920
RGD:8554872
G Actg1 actin, gamma, cytoplasmic 1 JBrowse link 11 120,345,687 120,348,495 RGD:13592920
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 5 142,903,115 142,907,976 RGD:7240710
RGD:8554872
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg1 actin, gamma, cytoplasmic 1 JBrowse link 11 120,345,687 120,348,495 RGD:7240710
RGD:8554872
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Thoc6 THO complex 6 JBrowse link 17 23,668,618 23,673,917 RGD:7240710
RGD:8554872
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dupd1 dual specificity phosphatase and pro isomerase domain containing 1 JBrowse link 14 21,676,565 21,714,576 RGD:8554872
G Kat6b K(lysine) acetyltransferase 6B JBrowse link 14 21,499,216 21,672,478 RGD:9588484
RGD:8554872
RGD:7240710
Boomerang dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin, beta JBrowse link 14 7,817,921 7,951,588 RGD:7240710
RGD:8554872
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rps23 ribosomal protein S23 JBrowse link 13 90,923,122 90,924,732 RGD:8554872
RGD:7240710
Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adnp2 ADNP homeobox 2 JBrowse link 18 80,126,315 80,151,731 RGD:8554872
G Atp9b ATPase, class II, type 9B JBrowse link 18 80,734,141 80,934,081 RGD:8554872
G Ctdp1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 JBrowse link 18 80,407,959 80,478,739 RGD:8554872
G Galr1 galanin receptor 1 JBrowse link 18 82,392,496 82,406,777 RGD:8554872
G Hsbp1l1 heat shock factor binding protein 1-like 1 JBrowse link 18 80,228,939 80,250,102 RGD:8554872
G Kcng2 potassium voltage-gated channel, subfamily G, member 2 JBrowse link 18 80,294,544 80,364,254 RGD:8554872
G Mbp myelin basic protein JBrowse link 18 82,475,091 82,585,637 RGD:8554872
G Nfatc1 nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 1 JBrowse link 18 80,606,205 80,713,071 RGD:8554872
G Pard6g par-6 family cell polarity regulator gamma JBrowse link 18 80,046,830 80,119,640 RGD:8554872
G Rbfa ribosome binding factor A JBrowse link 18 80,192,264 80,200,619 RGD:8554872
G Sall3 spalt like transcription factor 3 JBrowse link 18 80,966,989 80,987,021 RGD:8554872
G Slc66a2 solute carrier family 66 member 2 JBrowse link 18 80,255,241 80,292,724 RGD:8554872
G Txnl4a thioredoxin-like 4A JBrowse link 18 80,206,798 80,225,851 RGD:8554872
RGD:7240710
G Zfp236 zinc finger protein 236 JBrowse link 18 82,593,593 82,692,913 RGD:8554872
G Zfp516 zinc finger protein 516 JBrowse link 18 82,909,688 83,005,314 RGD:8554872
C syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd96 CD96 antigen JBrowse link 16 46,035,652 46,120,248 RGD:7240710
RGD:8554872
RGD:11554173
cardiofaciocutaneous syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf Braf transforming gene JBrowse link 6 39,603,231 39,725,658 RGD:1600471
RGD:8554872
RGD:13592920
RGD:11352608
RGD:11567236
RGD:11554173
G Hras Harvey rat sarcoma virus oncogene JBrowse link 7 141,189,934 141,194,019 RGD:11554173
G Kras Kirsten rat sarcoma viral oncogene homolog JBrowse link 6 145,216,699 145,250,420 RGD:1600471
RGD:8554872
RGD:11554173
G Map2k1 mitogen-activated protein kinase kinase 1 JBrowse link 9 64,185,769 64,253,605 RGD:8554872
RGD:13592920
RGD:11554173
G Map2k2 mitogen-activated protein kinase kinase 2 JBrowse link 10 81,105,913 81,124,697 RGD:8554872
RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 5 121,130,533 121,191,397 RGD:8554872
RGD:11554173
G Snapc5 small nuclear RNA activating complex, polypeptide 5 JBrowse link 9 64,179,297 64,182,688 RGD:8554872
G Tipin timeless interacting protein JBrowse link 9 64,281,491 64,305,422 RGD:8554872
cardiofaciocutaneous syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf Braf transforming gene JBrowse link 6 39,603,231 39,725,658 RGD:8554872
RGD:7240710
G Kras Kirsten rat sarcoma viral oncogene homolog JBrowse link 6 145,216,699 145,250,420 RGD:8554872
G Map2k2 mitogen-activated protein kinase kinase 2 JBrowse link 10 81,105,913 81,124,697 RGD:8554872
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kras Kirsten rat sarcoma viral oncogene homolog JBrowse link 6 145,216,699 145,250,420 RGD:7240710
RGD:8554872
cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k1 mitogen-activated protein kinase kinase 1 JBrowse link 9 64,185,769 64,253,605 RGD:8554872
RGD:7240710
cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Map2k2 mitogen-activated protein kinase kinase 2 JBrowse link 10 81,105,913 81,124,697 RGD:7240710
RGD:8554872
Cerebellofaciodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brf1 BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit JBrowse link 12 112,955,631 113,000,706 RGD:8554872
RGD:7240710
Chondrodysplasia, Megarbane-Dagher-Melki Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pam16 presequence translocase-asssociated motor 16 homolog (S. cerevisiae) JBrowse link 16 4,616,466 4,624,946 RGD:8554872
RGD:7240710
CHOPS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aff4 AF4/FMR2 family, member 4 JBrowse link 11 53,350,640 53,421,830 RGD:8554872
RGD:7240710
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 11 80,183,869 80,199,755 RGD:8554872
RGD:11554173
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdm1a lysine (K)-specific demethylase 1A JBrowse link 4 136,550,533 136,602,787 RGD:7240710
RGD:8554872
Coffin-Siris syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT rich interactive domain 1A (SWI-like) JBrowse link 4 133,679,008 133,756,769 RGD:8554872
RGD:13592920
G Arid1b AT rich interactive domain 1B (SWI-like) JBrowse link 17 4,994,297 5,347,656 RGD:8554872
RGD:11526783
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 19 26,605,073 26,778,321 RGD:8554872
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 9 21,616,106 21,704,230 RGD:8554872
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 10 75,896,769 75,921,614 RGD:8554872
Coffin-Siris syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT rich interactive domain 1A (SWI-like) JBrowse link 4 133,679,008 133,756,769 RGD:8554872
G Arid1b AT rich interactive domain 1B (SWI-like) JBrowse link 17 4,994,297 5,347,656 RGD:8554872
RGD:7240710
RGD:13592920
G Dpf2 D4, zinc and double PHD fingers family 2 JBrowse link 19 5,896,516 5,912,871 RGD:8554872
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 19 26,605,073 26,778,321 RGD:8554872
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 9 21,616,106 21,704,230 RGD:8554872
Coffin-Siris Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox4 SRY (sex determining region Y)-box 4 JBrowse link 13 28,948,919 28,953,699 RGD:7240710
RGD:8554872
Coffin-Siris Syndrome 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 JBrowse link 15 99,702,287 99,713,995 RGD:7240710
RGD:8554872
Coffin-Siris syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT rich interactive domain 1A (SWI-like) JBrowse link 4 133,679,008 133,756,769 RGD:7240710
RGD:8554872
Coffin-Siris syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 10 75,896,769 75,921,614 RGD:7240710
RGD:8554872
Coffin-Siris syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 9 21,616,106 21,704,230 RGD:7240710
RGD:8554872
Coffin-Siris Syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 JBrowse link 11 99,209,047 99,231,017 RGD:8554872
RGD:7240710
Coffin-Siris syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid2 AT rich interactive domain 2 (ARID, RFX-like) JBrowse link 15 96,287,522 96,405,463 RGD:8554872
RGD:7240710
Coffin-Siris Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpf2 D4, zinc and double PHD fingers family 2 JBrowse link 19 5,896,516 5,912,871 RGD:8554872
RGD:7240710
Coffin-Siris Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 JBrowse link 10 128,459,182 128,490,586 RGD:7240710
RGD:8554872
cold-induced sweating syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcf1 cardiotrophin-like cytokine factor 1 JBrowse link 19 4,214,238 4,223,505 RGD:11554173
G Crlf1 cytokine receptor-like factor 1 JBrowse link 8 70,493,097 70,504,081 RGD:11554173
G Klhl7 kelch-like 7 JBrowse link 5 24,100,565 24,163,369 RGD:11554173
cold-induced sweating syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crlf1 cytokine receptor-like factor 1 JBrowse link 8 70,493,097 70,504,081 RGD:7240710
RGD:8554872
G Klhl7 kelch-like 7 JBrowse link 5 24,100,565 24,163,369 RGD:8554872
cold-induced sweating syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Clcf1 cardiotrophin-like cytokine factor 1 JBrowse link 19 4,214,238 4,223,505 RGD:7240710
RGD:8554872
cold-induced sweating syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl7 kelch-like 7 JBrowse link 5 24,100,565 24,163,369 RGD:8554872
RGD:7240710
Combined Pituitary Hormone Deficiency, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acbd6 acyl-Coenzyme A binding domain containing 6 JBrowse link 1 155,558,099 155,687,474 RGD:8554872
G Hesx1 homeobox gene expressed in ES cells JBrowse link 14 26,994,419 27,002,329 RGD:8554872
G Lhx3 LIM homeobox protein 3 JBrowse link 2 26,200,212 26,208,249 RGD:8554872
G Lhx4 LIM homeobox protein 4 JBrowse link 1 155,698,031 155,751,726 RGD:8554872
G Pou1f1 POU domain, class 1, transcription factor 1 JBrowse link 16 65,520,512 65,535,018 RGD:7240710
RGD:8554872
Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdk13 cyclin-dependent kinase 13 JBrowse link 13 17,711,676 17,805,212 RGD:8554872
RGD:7240710
fibrochondrogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen, type XI, alpha 1 JBrowse link 3 114,030,479 114,220,756 RGD:11554173
G Col11a2 collagen, type XI, alpha 2 JBrowse link 17 34,038,919 34,066,684 RGD:11554173
Fibrochondrogenesis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen, type XI, alpha 1 JBrowse link 3 114,030,479 114,220,756 RGD:7240710
RGD:8554872
G Col11a2 collagen, type XI, alpha 2 JBrowse link 17 34,038,919 34,066,684 RGD:8554872
Fibrochondrogenesis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen, type XI, alpha 2 JBrowse link 17 34,038,919 34,066,684 RGD:8554872
RGD:7240710
Filippi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ckap2l cytoskeleton associated protein 2-like JBrowse link 2 129,268,210 129,297,228 RGD:8554872
RGD:7240710
geleophysic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 2 27,079,336 27,108,981 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 2 125,300,594 125,506,485 RGD:8554872
geleophysic dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 2 27,079,336 27,108,981 RGD:7240710
RGD:8554872
geleophysic dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 2 125,300,594 125,506,485 RGD:7240710
RGD:8554872
geleophysic dysplasia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 19 5,740,900 5,758,536 RGD:8554872
RGD:7240710
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zfp148 zinc finger protein 148 JBrowse link 16 33,380,775 33,503,903 RGD:8554872
RGD:7240710
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma JBrowse link 12 55,280,809 55,303,239 RGD:8554872
RGD:7240710
Growth Deficiency and Mental Retardation with Facial Dysmorphism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kmt2a lysine (K)-specific methyltransferase 2A JBrowse link 9 44,803,355 44,881,352 RGD:7240710
RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 152,016,428 152,061,973 RGD:8554872
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smad4 SMAD family member 4 JBrowse link 18 73,634,790 73,703,791 RGD:7240710
RGD:8554872
RGD:12880042
RGD:11554173
Growth Retardation, Developmental Delay, Coarse Facies, and Early Death term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fto fat mass and obesity associated JBrowse link 8 91,313,367 91,668,433 RGD:7240710
RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 8 91,217,030 91,313,291 RGD:8554872
hereditary spastic paraplegia 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dstyk dual serine/threonine and tyrosine protein kinase JBrowse link 1 132,417,389 132,466,959 RGD:7240710
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nalcn sodium leak channel, non-selective JBrowse link 14 123,275,678 123,627,330 RGD:7240710
RGD:8554872
RGD:12911215
RGD:12914762
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Unc80 unc-80, NALCN activator JBrowse link 1 66,467,915 66,699,150 RGD:8554872
RGD:7240710
RGD:11528248
Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbck TBC1 domain containing kinase JBrowse link 3 132,684,113 132,841,688 RGD:8554872
RGD:7240710
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tmem94 transmembrane protein 94 JBrowse link 11 115,765,419 115,799,033 RGD:7240710
RGD:8554872
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxo11 F-box protein 11 JBrowse link 17 87,990,859 88,066,090 RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Brpf1 bromodomain and PHD finger containing, 1 JBrowse link 6 113,306,863 113,324,862 RGD:8554872
RGD:7240710
Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Otud6b OTU domain containing 6B JBrowse link 4 14,809,505 14,826,413 RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccnk cyclin K JBrowse link 12 108,179,308 108,203,359 RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddx6 DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 JBrowse link 9 44,602,983 44,640,731 RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnot2 CCR4-NOT transcription complex, subunit 2 JBrowse link 10 116,485,160 116,581,900 RGD:7240710
RGD:8554872
Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnot3 CCR4-NOT transcription complex, subunit 3 JBrowse link 7 3,645,247 3,661,109 RGD:8554872
RGD:7240710
INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcl11b B cell leukemia/lymphoma 11B JBrowse link 12 107,910,403 108,004,145 RGD:8554872
RGD:7240710
Kahrizi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srd5a3 steroid 5 alpha-reductase 3 JBrowse link 5 76,140,273 76,155,503 RGD:7240710
RGD:8554872
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ube3b ubiquitin protein ligase E3B JBrowse link 5 114,380,517 114,421,169 RGD:8554872
RGD:7240710
RGD:11554173
KBG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd11 ankyrin repeat domain 11 JBrowse link 8 122,883,321 123,042,284 RGD:7240710
RGD:8554872
G Kat6b K(lysine) acetyltransferase 6B JBrowse link 14 21,499,216 21,672,478 RGD:8554872
G Trappc2l trafficking protein particle complex 2-like JBrowse link 8 122,611,626 122,615,591 RGD:8554872
Keppen-Lubinsky Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kcnj6 potassium inwardly-rectifying channel, subfamily J, member 6 JBrowse link 16 94,744,980 94,997,696 RGD:7240710
RGD:8554872
Larsen-like syndrome B3GAT3 type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3gat3 beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I) JBrowse link 19 8,920,374 8,927,236 RGD:7240710
RGD:8554872
G B4galt7 xylosylprotein beta1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) JBrowse link 13 55,599,896 55,610,443 RGD:8554872
G Chst3 carbohydrate sulfotransferase 3 JBrowse link 10 60,181,527 60,222,114 RGD:11554173
G Col11a2 collagen, type XI, alpha 2 JBrowse link 17 34,038,919 34,066,684 RGD:8554872
Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif7 kinesin family member 7 JBrowse link 7 79,698,098 79,715,772 RGD:8554872
RGD:7240710
MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Erc1 ELKS/RAB6-interacting/CAST family member 1 JBrowse link 6 119,570,796 119,848,184 RGD:8554872
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 9 66,350,412 66,508,775 RGD:8554872
RGD:7240710
macrocephaly-autism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gm36566 predicted gene, 36566 JBrowse link 19 32,754,447 32,757,412 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 19 32,757,577 32,826,160 RGD:7240710
RGD:8554872
RGD:11554173
RGD:13592920
RGD:12832751
Marfanoid Mental Retardation Syndrome, Autosomal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Amfr autocrine motility factor receptor JBrowse link 8 93,971,588 94,012,640 RGD:8554872
G Apob apolipoprotein B JBrowse link 12 7,977,629 8,016,839 RGD:8554872
G Arid1a AT rich interactive domain 1A (SWI-like) JBrowse link 4 133,679,008 133,756,769 RGD:8554872
G Arid1b AT rich interactive domain 1B (SWI-like) JBrowse link 17 4,994,297 5,347,656 RGD:8554872
G Asxl3 additional sex combs like 3, transcriptional regulator JBrowse link 18 22,344,077 22,530,227 RGD:8554872
G Atp1a1 ATPase, Na+/K+ transporting, alpha 1 polypeptide JBrowse link 3 101,576,219 101,604,707 RGD:8554872
G Atxn2l ataxin 2-like JBrowse link 7 126,491,708 126,507,819 RGD:8554872
G B3glct beta-3-glucosyltransferase JBrowse link 5 149,678,100 149,762,599 RGD:8554872
G B4galt7 xylosylprotein beta1,4-galactosyltransferase, polypeptide 7 (galactosyltransferase I) JBrowse link 13 55,599,896 55,610,443 RGD:8554872
G Bcl11a B cell CLL/lymphoma 11A (zinc finger protein) JBrowse link 11 24,076,564 24,173,558 RGD:8554872
G Begain brain-enriched guanylate kinase-associated JBrowse link 12 109,032,181 109,068,250 RGD:8554872
G Cdh5 cadherin 5 JBrowse link 8 104,101,613 104,144,504 RGD:8554872
G Cdhr2 cadherin-related family member 2 JBrowse link 13 54,701,463 54,736,662 RGD:8554872
G Cdk13 cyclin-dependent kinase 13 JBrowse link 13 17,711,676 17,805,212 RGD:8554872
G Cers2 ceramide synthase 2 JBrowse link 3 95,314,771 95,323,599 RGD:8554872
G Chd3 chromodomain helicase DNA binding protein 3 JBrowse link 11 69,343,273 69,369,499 RGD:8554872
G Chd8 chromodomain helicase DNA binding protein 8 JBrowse link 14 52,198,151 52,258,042 RGD:8554872
G Cic capicua transcriptional repressor JBrowse link 7 25,267,658 25,294,159 RGD:8554872
G Cit citron JBrowse link 5 115,845,224 116,008,953 RGD:8554872
G Cldn11 claudin 11 JBrowse link 3 31,149,920 31,164,326 RGD:8554872
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase JBrowse link 11 100,574,909 100,591,875 RGD:8554872
G Col6a3 collagen, type VI, alpha 3 JBrowse link 1 90,766,860 90,844,001 RGD:8554872
G Crebbp CREB binding protein JBrowse link 16 4,081,334 4,213,957 RGD:8554872
G Dbn1 drebrin 1 JBrowse link 13 55,473,428 55,488,126 RGD:8554872
G Ddx3x DEAD box helicase 3, X-linked JBrowse link X 13,280,496 13,293,988 RGD:8554872
G Ddx41 DEAD box helicase 41 JBrowse link 13 55,530,410 55,536,658 RGD:8554872
G Dkk3 dickkopf WNT signaling pathway inhibitor 3 JBrowse link 7 112,116,019 112,159,482 RGD:8554872
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link 11 70,017,203 70,045,535 RGD:8554872
G Dok3 docking protein 3 JBrowse link 13 55,523,231 55,530,345 RGD:8554872
G Dscaml1 DS cell adhesion molecule like 1 JBrowse link 9 45,427,433 45,753,713 RGD:8554872
G Dsp desmoplakin JBrowse link 13 38,151,294 38,198,577 RGD:8554872
G Ehmt1 euchromatic histone methyltransferase 1 JBrowse link 2 24,790,769 24,919,643 RGD:8554872
G Eif4e1b eukaryotic translation initiation factor 4E family member 1B JBrowse link 13 54,783,994 54,788,459 RGD:8554872
G Emilin3 elastin microfibril interfacer 3 JBrowse link 2 160,906,438 160,912,339 RGD:8554872
G F12 coagulation factor XII (Hageman factor) JBrowse link 13 55,417,958 55,426,804 RGD:8554872
G Faf2 Fas associated factor family member 2 JBrowse link 13 54,621,784 54,664,063 RGD:8554872
G Fam193b family with sequence similarity 193, member B JBrowse link 13 55,539,316 55,571,120 RGD:8554872
G Fam83h family with sequence similarity 83, member H JBrowse link 15 76,001,092 76,014,336 RGD:8554872
G Fbn2 fibrillin 2 JBrowse link 18 58,008,623 58,210,572 RGD:8554872
G Fbxo11 F-box protein 11 JBrowse link 17 87,990,859 88,066,090 RGD:8554872
G Fgfr4 fibroblast growth factor receptor 4 JBrowse link 13 55,152,818 55,168,759 RGD:8554872
G Fkbp8 FK506 binding protein 8 JBrowse link 8 70,527,710 70,535,328 RGD:8554872
G Gabra1 gamma-aminobutyric acid (GABA) A receptor, subunit alpha 1 JBrowse link 11 42,130,939 42,183,066 RGD:8554872
G Glt8d2 glycosyltransferase 8 domain containing 2 JBrowse link 10 82,650,431 82,694,125 RGD:8554872
G Gprin1 G protein-regulated inducer of neurite outgrowth 1 JBrowse link 13 54,736,671 54,749,874 RGD:8554872
G Grk6 G protein-coupled receptor kinase 6 JBrowse link 13 55,445,072 55,460,927 RGD:8554872
G Hdlbp high density lipoprotein (HDL) binding protein JBrowse link 1 93,405,940 93,478,917 RGD:8554872
G Hk3 hexokinase 3 JBrowse link 13 55,005,985 55,021,475 RGD:8554872
G Kcnb1 potassium voltage gated channel, Shab-related subfamily, member 1 JBrowse link 2 167,095,969 167,190,072 RGD:8554872
G Lman2 lectin, mannose-binding 2 JBrowse link 13 55,343,833 55,362,783 RGD:8554872
G Med13l mediator complex subunit 13-like JBrowse link 5 118,560,330 118,765,438 RGD:8554872
G Mettl11b methyltransferase like 11B JBrowse link 1 163,702,993 163,725,232 RGD:8554872
G Mtrex Mtr4 exosome RNA helicase JBrowse link 13 112,867,780 112,927,380 RGD:8554872
G Mxd3 Max dimerization protein 3 JBrowse link 13 55,325,170 55,329,900 RGD:8554872
G Neu3 neuraminidase 3 JBrowse link 7 99,811,434 99,828,457 RGD:8554872
G Nf2 neurofibromin 2 JBrowse link 11 4,757,639 4,849,544 RGD:8554872
G Nfib nuclear factor I/B JBrowse link 4 82,290,173 82,506,751 RGD:8554872
G Nfix nuclear factor I/X JBrowse link 8 84,704,712 84,801,238 RGD:8554872
G Nsd1 nuclear receptor-binding SET-domain protein 1 JBrowse link 13 55,209,782 55,318,325 RGD:8554872
G Nup205 nucleoporin 205 JBrowse link 6 35,177,616 35,247,599 RGD:8554872
G Pah phenylalanine hydroxylase JBrowse link 10 87,521,795 87,584,137 RGD:8554872
G Pdlim7 PDZ and LIM domain 7 JBrowse link 13 55,497,487 55,513,473 RGD:8554872
G Pfn3 profilin 3 JBrowse link 13 55,414,688 55,415,232 RGD:8554872
G Picalm phosphatidylinositol binding clathrin assembly protein JBrowse link 7 90,130,192 90,209,447 RGD:8554872
G Pkd1l2 polycystic kidney disease 1 like 2 JBrowse link 8 116,995,679 117,082,449 RGD:8554872
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 8 3,515,235 3,544,267 RGD:8554872
G Prelid1 PRELI domain containing 1 JBrowse link 13 55,322,055 55,325,272 RGD:8554872
G Prr7 proline rich 7 (synaptic) JBrowse link 13 55,464,267 55,473,162 RGD:8554872
G Rab24 RAB24, member RAS oncogene family JBrowse link 13 55,319,223 55,321,980 RGD:8554872
G Ralgapb Ral GTPase activating protein, beta subunit (non-catalytic) JBrowse link 2 158,409,830 158,499,253 RGD:8554872
G Ranbp10 RAN binding protein 10 JBrowse link 8 105,768,308 105,833,831 RGD:8554872
G Rgs14 regulator of G-protein signaling 14 JBrowse link 13 55,369,732 55,384,687 RGD:8554872
G Rnf44 ring finger protein 44 JBrowse link 13 54,679,399 54,694,076 RGD:8554872
G Satb1 special AT-rich sequence binding protein 1 JBrowse link 17 51,736,187 51,833,290 RGD:8554872
G Scn2a sodium channel, voltage-gated, type II, alpha JBrowse link 2 65,620,764 65,767,447 RGD:8554872
G Sidt1 SID1 transmembrane family, member 1 JBrowse link 16 44,240,177 44,333,212 RGD:8554872
G Slc34a1 solute carrier family 34 (sodium phosphate), member 1 JBrowse link 13 55,399,622 55,414,695 RGD:8554872
G Slc6a1 solute carrier family 6 (neurotransmitter transporter, GABA), member 1 JBrowse link 6 114,282,635 114,317,525 RGD:8554872
G Sncb synuclein, beta JBrowse link 13 54,758,860 54,766,622 RGD:8554872
G Spag9 sperm associated antigen 9 JBrowse link 11 93,996,046 94,126,093 RGD:8554872
G Stk11 serine/threonine kinase 11 JBrowse link 10 80,115,767 80,130,679 RGD:8554872
G Syngap1 synaptic Ras GTPase activating protein 1 homolog (rat) JBrowse link 17 26,941,212 26,972,434 RGD:8554872
G Taf1 TATA-box binding protein associated factor 1 JBrowse link X 101,527,572 101,601,789 RGD:8554872
G Tapbpl TAP binding protein-like JBrowse link 6 125,223,927 125,231,860 RGD:8554872
G Tbr1 T-box brain transcription factor 1 JBrowse link 2 61,802,863 61,814,114 RGD:8554872
G Tmed9 transmembrane p24 trafficking protein 9 JBrowse link 13 55,593,135 55,597,697 RGD:8554872
G Tpcn2 two pore segment channel 2 JBrowse link 7 145,181,633 145,284,011 RGD:8554872
G Tspan17 tetraspanin 17 JBrowse link 13 54,789,102 54,796,775 RGD:8554872
G Uimc1 ubiquitin interaction motif containing 1 JBrowse link 13 55,027,880 55,100,363 RGD:8554872
G Unc5a unc-5 netrin receptor A JBrowse link 13 54,945,151 55,006,018 RGD:8554872
G Wscd2 WSC domain containing 2 JBrowse link 5 113,489,110 113,589,725 RGD:8554872
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link 1 177,442,351 177,450,764 RGD:8554872
G Zbtb20 zinc finger and BTB domain containing 20 JBrowse link 16 42,875,689 43,634,392 RGD:8554872
G Zbtb46 zinc finger and BTB domain containing 46 JBrowse link 2 181,371,009 181,493,262 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 2 44,983,512 45,117,442 RGD:8554872
G Zfp346 zinc finger protein 346 JBrowse link 13 55,105,271 55,135,071 RGD:8554872
Mental Retardation and Distinctive Facial Features with or without Cardiac Defects term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Med13l mediator complex subunit 13-like JBrowse link 5 118,560,330 118,765,438 RGD:8554872
RGD:7240710
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxl3 F-box and leucine-rich repeat protein 3 JBrowse link 14 103,080,239 103,099,566 RGD:7240710
RGD:8554872
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx2 runt related transcription factor 2 JBrowse link 17 44,495,987 44,814,797 RGD:7240710
RGD:8554872
G Supt3 SPT3, SAGA and STAGA complex component JBrowse link 17 44,777,118 45,119,294 RGD:8554872
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif11 kinesin family member 11 JBrowse link 19 37,376,382 37,421,863 RGD:7240710
RGD:8554872
Mowat-Wilson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gtdc1 glycosyltransferase-like domain containing 1 JBrowse link 2 44,564,412 44,927,717 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 2 44,983,512 45,117,442 RGD:7240710
RGD:8554872
RGD:13592920
RGD:11554173
G Zeb2os zinc finger E-box binding homeobox 2, opposite strand JBrowse link 2 45,111,138 45,114,087 RGD:8554872
Nabais Sa-de Vries Syndrome, Type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spop speckle-type BTB/POZ protein JBrowse link 11 95,414,083 95,493,410 RGD:8554872
RGD:7240710
Nabais Sa-de Vries Syndrome, Type 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Spop speckle-type BTB/POZ protein JBrowse link 11 95,414,083 95,493,410 RGD:8554872
RGD:7240710
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ints1 integrator complex subunit 1 JBrowse link 5 139,751,282 139,775,702 RGD:8554872
RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdm6b KDM1 lysine (K)-specific demethylase 6B JBrowse link 11 69,398,508 69,420,367 RGD:7240710
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Zmiz1 zinc finger, MIZ-type containing 1 JBrowse link 14 25,457,875 25,666,743 RGD:7240710
RGD:8554872
Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rac3 Rac family small GTPase 3 JBrowse link 11 120,721,468 120,723,969 RGD:8554872
RGD:7240710
Nicolaides Baraitser Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT rich interactive domain 1B (SWI-like) JBrowse link 17 4,994,297 5,347,656 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 160,784,308 160,994,681 RGD:8554872
G Rs1 retinoschisis (X-linked, juvenile) 1 (human) JBrowse link X 160,765,819 160,799,663 RGD:8554872
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 19 26,605,073 26,778,321 RGD:7240710
RGD:8554872
RGD:11554173
Oculoskeletodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pik3c2a phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha JBrowse link 7 116,337,265 116,443,465 RGD:7240710
RGD:8554872
oligomeganephronia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcl2 B cell leukemia/lymphoma 2 JBrowse link 1 106,538,176 106,714,290 RGD:13592920
Omodysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpc6 glypican 6 JBrowse link 14 116,924,920 117,979,529 RGD:7240710
RGD:8554872
RGD:11554173
Omodysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd2 frizzled class receptor 2 JBrowse link 11 102,604,431 102,608,058 RGD:8554872
RGD:7240710
PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubgcp2 tubulin, gamma complex associated protein 2 JBrowse link 7 139,995,955 140,036,674 RGD:8554872
RGD:7240710
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptf1a pancreas specific transcription factor, 1a JBrowse link 2 19,445,663 19,447,501 RGD:7240710
RGD:8554872
RGD:11554173
Pierpont syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 transducin (beta)-like 1X-linked receptor 1 JBrowse link 3 22,076,253 22,216,594 RGD:8554872
RGD:7240710
renal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddx54 DEAD box helicase 54 JBrowse link 5 120,613,082 120,628,592 RGD:8554872
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 1 14,168,953 14,311,035 RGD:8554872
G Kat6b K(lysine) acetyltransferase 6B JBrowse link 14 21,499,216 21,672,478 RGD:8554872
Seckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atr ataxia telangiectasia and Rad3 related JBrowse link 9 95,857,597 95,953,217 RGD:7240710
RGD:8554872
RGD:10053614
G Cenpj centromere protein J JBrowse link 14 56,526,761 56,575,489 RGD:8554872
G Cep152 centrosomal protein 152 JBrowse link 2 125,549,864 125,625,174 RGD:11554173
G Pcnt pericentrin (kendrin) JBrowse link 10 76,351,254 76,442,912 RGD:11554173
Severe Growth Restriction with Distinctive Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igf2 insulin-like growth factor 2 JBrowse link 7 142,650,768 142,666,816 RGD:7240710
RGD:8554872
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cript cysteine-rich PDZ-binding protein JBrowse link 17 87,025,561 87,035,808 RGD:7240710
RGD:8554872
G Pigf phosphatidylinositol glycan anchor biosynthesis, class F JBrowse link 17 86,997,259 87,025,401 RGD:8554872
SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Exosc2 exosome component 2 JBrowse link 2 31,670,715 31,681,352 RGD:8554872
RGD:7240710
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Poc1a POC1 centriolar protein A JBrowse link 9 106,279,443 106,350,522 RGD:7240710
RGD:8554872
Snijders Blok-Campeau Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chd3 chromodomain helicase DNA binding protein 3 JBrowse link 11 69,343,273 69,369,499 RGD:7240710
RGD:8554872
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atrx ATRX, chromatin remodeler JBrowse link X 105,797,615 105,929,372 RGD:8554872
G Huwe1 HECT, UBA and WWE domain containing 1 JBrowse link X 151,800,785 151,935,417 RGD:8554872
RGD:7240710
trichohepatoenteric syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nelfe negative elongation factor complex member E, Rdbp JBrowse link 17 34,850,391 34,856,372 RGD:8554872
G Skiv2l superkiller viralicidic activity 2-like (S. cerevisiae) JBrowse link 17 34,839,226 34,850,204 RGD:11554173
RGD:8554872
G Ttc37 tetratricopeptide repeat domain 37 JBrowse link 13 76,098,705 76,190,318 RGD:11554173
RGD:8554872
trichohepatoenteric syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link 6 40,325,076 40,397,570 RGD:8554872
G Ttc37 tetratricopeptide repeat domain 37 JBrowse link 13 76,098,705 76,190,318 RGD:7240710
RGD:8554872
trichohepatoenteric syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Skiv2l superkiller viralicidic activity 2-like (S. cerevisiae) JBrowse link 17 34,839,226 34,850,204 RGD:7240710
RGD:8554872
trichorhinophalangeal syndrome type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trps1 transcriptional repressor GATA binding 1 JBrowse link 15 50,654,757 50,890,631 RGD:7240710
RGD:8554872
Turnpenny-Fry Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pcgf2 polycomb group ring finger 2 JBrowse link 11 97,688,821 97,702,434 RGD:7240710
RGD:8554872
urofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpse2 heparanase 2 JBrowse link 19 42,786,541 43,388,476 RGD:11554173
RGD:13592920
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 JBrowse link 3 104,453,980 104,511,918 RGD:11554173
Urofacial Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpse2 heparanase 2 JBrowse link 19 42,786,541 43,388,476 RGD:7240710
RGD:8554872
Urofacial Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 JBrowse link 3 104,453,980 104,511,918 RGD:7240710
RGD:8554872
Uruguay Faciocardiomusculoskeletal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fhl1 four and a half LIM domains 1 JBrowse link X 56,731,209 56,793,346 RGD:8554872
RGD:7240710
Verheij Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Puf60 poly-U binding splicing factor 60 JBrowse link 15 76,070,182 76,082,537 RGD:7240710
RGD:8554872
VERVERI-BRADY SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Qrich1 glutamine-rich 1 JBrowse link 9 108,516,982 108,560,167 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13044
    Pathological Conditions, Signs and Symptoms 7605
      Pathologic Processes 5196
        Disease Attributes 546
          Facies 244
            Al Gazali Aziz Salem Syndrome 0
            Al Gazali Hirschsprung Syndrome 0
            Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges 0
            Aortic Arch Anomaly with Peculiar Facies and Mental Retardation 0
            Axenfeld-Rieger syndrome type 1 5
            Ayme-Gripp syndrome 1
            Baraitser-Winter syndrome + 2
            Beaulieu-Boycott-Innes Syndrome 1
            Beemer Ertbruggen Syndrome 0
            Boomerang dysplasia 1
            Bowen Syndrome 0
            Brachycephaly, Trichomegaly, and Developmental Delay 1
            Brachytelephalangy Characteristic Facies Kallmann 0
            Brunoni Syndrome 0
            Burn-Mckeown Syndrome 15
            C syndrome 1
            CHOPS Syndrome 1
            Cerebellofaciodental Syndrome 1
            Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 0
            Chondrodysplasia, Megarbane-Dagher-Melki Type 1
            Chromosome Xq28 Duplication Syndrome 0
            Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss 0
            Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features 1
            Coffin-Siris syndrome + 12
            Combined Pituitary Hormone Deficiency, 1 5
            Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 0
            Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 1
            Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 0
            Congenital Micromelic Dysplasia with Dislocation of Radius + 1
            Cortical Blindness, Retardation, and Postaxial Polydactyly 0
            Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
            Cree Mental Retardation Syndrome 0
            Crumpled Helices and Small Mouth 0
            Cubitus Valgus with Mental Retardation and Unusual Facies 0
            Cyprus Facial Neuromusculoskeletal Syndrome 0
            Davis Lafer Syndrome 0
            De Hauwere syndrome 0
            Deafness-Craniofacial Syndrome 0
            Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 0
            Der Kaloustian Mcintosh Silver Syndrome 0
            Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 0
            Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 0
            Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 0
            Dubowitz syndrome 0
            Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 0
            Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
            Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 0
            Ectrodactyly Cardiopathy Dysmorphism 0
            Edinburgh Malformation Syndrome 0
            FACES Syndrome 0
            Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 0
            Faciocardiomelic Syndrome 0
            Feingold Trainer Syndrome 0
            Filippi Syndrome 1
            Fryns Macrocephaly 0
            Fryns Syndrome 0
            GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
            Giacheti Syndrome 0
            Gingival Fibromatosis with Distinctive Facies 0
            Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy 1
            Granddad Syndrome 0
            Growth Deficiency and Mental Retardation with Facial Dysmorphism 2
            Growth Mental Deficiency Syndrome of Myhre 1
            Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 2
            Hadziselimovic Syndrome 0
            Haspeslagh Fryns Muelenaere Syndrome 0
            Holoprosencephaly 10 0
            Hypotonia, Seizures, and Precocious Puberty 0
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES 1
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 1
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 1
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES 1
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES 1
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 1
            Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies + 3
            Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 0
            Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 1
            Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
            Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 1
            Iris Dysplasia Hypertelorism Deafness 0
            Irons Bhan Syndrome 0
            KBG syndrome 3
            Kahrizi syndrome 1
            Kaufman oculocerebrofacial syndrome 1
            Keppen-Lubinsky Syndrome 1
            Kozlowski Rafinski Klicharska Syndrome 0
            Kozlowski-Krajewska Syndrome 0
            Larsen-Like Syndromes + 4
            Leri Pleonosteosis 0
            Lichtenstein Syndrome 0
            Lymphedema, Cardiac Septal Defects, And Characteristic Facies 0
            MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION 2
            Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 1
            Malocclusion and Short Stature 0
            Marfanoid Mental Retardation Syndrome, Autosomal 96
            McDonough Syndrome 0
            McPherson Clemens Syndrome 0
            Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 1
            Mental Retardation, Buenos Aires Type 0
            Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 0
            Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 1
            Microcephaly Cervical Spine Fusion Anomalies 0
            Microcephaly Deafness Syndrome 0
            Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 0
            Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
            Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 0
            Mowat-Wilson syndrome 3
            Multiple Pterygium Syndrome, X-Linked 0
            NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; 1
            NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES 1
            NF1 Microduplication Syndrome 0
            Nabais Sa-de Vries Syndrome, Type 1 1
            Nabais Sa-de Vries Syndrome, Type 2 1
            Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies 1
            Nicolaides Baraitser Syndrome 4
            Night Blindness Skeletal Anomalies Unusual Facies 0
            Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 0
            Oculoskeletodental Syndrome 1
            Omodysplasia 2 1
            Oroacral Syndrome, Verloes-Koulischer Type 0
            Osteolysis Syndrome, Recessive 0
            Otoonychoperoneal Syndrome 0
            PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES 1
            Palant Cleft Palate Syndrome 0
            Partington Anderson Syndrome 0
            Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis 1
            Pfeiffer Palm Teller Syndrome 0
            Pierpont syndrome 1
            Pierre Robin Sequence with Facial and Digital Anomalies 0
            Progeroid Facial Appearance with Hand Anomalies 0
            Radioulnar Synostosis Retinal Pigment Abnormalities 0
            Ramos Arroyo Clark Syndrome 0
            Renal Dysplasia - Limb Defects Syndrome 0
            Renal and Mullerian Duct Hypoplasia + 4
            Robin Sequence with Distinctive Facial Appearance and Brachydactyly 0
            Roifman-Chitayat Syndrome 0
            Rudiger Syndrome 0
            Ruvalcaba Syndrome 0
            SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
            SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES 1
            Schrander-Stumpel Theunissen Hulsmans Syndrome 0
            Seckel Syndrome 3 0
            Seckel syndrome 1 4
            Severe Growth Restriction with Distinctive Facies 1
            Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 0
            Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
            Shprintzen Omphalocele Syndrome 0
            Snijders Blok-Campeau Syndrome 1
            Spinocerebellar Ataxia with Dysmorphism 0
            Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 0
            Thakker Donnai Syndrome 0
            Thomas Jewett Raines Syndrome 0
            Thrombocytopenia Robin Sequence 0
            Turnpenny-Fry Syndrome 1
            Uruguay Faciocardiomusculoskeletal Syndrome 1
            VERVERI-BRADY SYNDROME 1
            Verheij Syndrome 1
            White Forelock with Malformations 0
            Winter Harding Hyde Syndrome 0
            Zechi-Ceide Syndrome 0
            autosomal dominant mental retardation 49 1
            blepharophimosis-intellectual disability syndrome, SBBYS type 2
            cardiofaciocutaneous syndrome + 8
            chromosome 17q11.2 deletion syndrome, 1.4Mb 1
            chromosome 5p13 duplication syndrome 0
            cold-induced sweating syndrome + 3
            distal 10q deletion syndrome 0
            fibrochondrogenesis + 2
            geleophysic dysplasia + 3
            hereditary spastic paraplegia 23 1
            macrocephaly-autism syndrome 2
            metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2
            microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
            neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1
            syndromic X-linked intellectual disability Turner type 2
            trichohepatoenteric syndrome + 4
            trichorhinophalangeal syndrome type III 1
            urofacial syndrome + 2
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.