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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 3 5,624,473 5,654,890 RGD:11554173
G Aff4 AF4/FMR2 family, member 4 JBrowse link 10 38,692,167 38,773,021 RGD:11554173
G Ccbe1 collagen and calcium binding EGF domains 1 JBrowse link 18 61,758,754 62,013,194 RGD:11554173
G Chd8 chromodomain helicase DNA binding protein 8 JBrowse link 15 28,612,932 28,672,574 RGD:11554173
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link 6 28,205,375 28,346,052 RGD:11554173
G Fmr1 FMRP translational regulator 1 JBrowse link X 154,684,924 154,722,369 RGD:11554173
G Jag1 jagged canonical Notch ligand 1 JBrowse link 3 130,079,361 130,114,781 RGD:11554173
G Msl3 MSL complex subunit 3 JBrowse link X 27,015,826 27,033,562 RGD:11554173
G Tbce tubulin folding cofactor E JBrowse link 17 53,983,126 54,029,028 RGD:11554173
autosomal dominant mental retardation 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trio trio Rho guanine nucleotide exchange factor JBrowse link 2 80,471,398 80,769,313 RGD:8554872
G Trip12 thyroid hormone receptor interactor 12 JBrowse link 9 92,305,059 92,435,388 RGD:8554872
RGD:7240710
autosomal dominant non-syndromic intellectual disability 27 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox11 SRY-box transcription factor 11 JBrowse link 6 46,629,967 46,631,988 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 17 33,947,501 33,951,484 RGD:11554173
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link 5 152,195,359 152,198,813 RGD:13592920
G Pax6 paired box 6 JBrowse link 3 95,700,241 95,728,682 RGD:11554173
G Pitx2 paired-like homeodomain 2 JBrowse link 2 233,602,732 233,621,059 RGD:7240710
RGD:8554872
RGD:11554173
G Prdm5 PR/SET domain 5 JBrowse link 4 96,659,062 96,810,816 RGD:8554872
Ayme-Gripp syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link 19 48,179,826 48,200,995 RGD:8554872
RGD:7240710
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:13592920
RGD:8554872
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 RGD:13592920
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin, beta JBrowse link 12 13,715,843 13,718,813 RGD:7240710
RGD:8554872
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actg1 actin, gamma 1 JBrowse link 10 109,518,429 109,521,288 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 10 12,989,135 12,994,495 RGD:7240710
RGD:8554872
blepharophimosis-intellectual disability syndrome, SBBYS type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dusp29 dual specificity phosphatase 29 JBrowse link 15 2,766,929 2,806,573 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:9588484
RGD:8554872
RGD:7240710
Boomerang dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link 15 18,750,152 18,883,019 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 2 19,823,234 19,824,804 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 76,637,415 76,661,186 RGD:8554872
G Atp9b ATPase phospholipid transporting 9B (putative) JBrowse link 18 77,343,551 77,535,608 RGD:8554872
G Ctdp1 CTD phosphatase subunit 1 JBrowse link 18 76,922,913 76,985,095 RGD:8554872
G Galr1 galanin receptor 1 JBrowse link 18 79,243,009 79,258,570 RGD:8554872
G Hsbp1l1 heat shock factor binding protein 1-like 1 JBrowse link 18 76,748,067 76,754,642 RGD:8554872
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link 18 76,808,294 76,880,742 RGD:8554872
G Mbp myelin basic protein JBrowse link 18 79,326,738 79,437,310 RGD:8554872
G Nfatc1 nuclear factor of activated T-cells 1 JBrowse link 18 77,203,517 77,322,690 RGD:8554872
G Pard6g par-6 family cell polarity regulator gamma JBrowse link 18 76,559,877 76,627,843 RGD:8554872
G Rbfa ribosome binding factor A JBrowse link 18 76,704,223 76,714,387 RGD:8554872
G Sall3 spalt-like transcription factor 3 JBrowse link 18 77,572,200 77,591,710 RGD:8554872
G Slc66a2 solute carrier family 66 member 2 JBrowse link 18 76,768,466 76,805,773 RGD:8554872
G Txnl4a thioredoxin-like 4A JBrowse link 18 76,725,221 76,740,673 RGD:8554872
RGD:7240710
G Zfp236 zinc finger protein 236 JBrowse link 18 79,447,384 79,543,271 RGD:8554872
G Zfp516 zinc finger protein 516 JBrowse link 18 79,768,387 79,857,909 RGD:8554872
C syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd96 CD96 molecule JBrowse link 11 57,108,757 57,183,855 RGD:7240710
RGD:8554872
RGD:11554173
cardiofaciocutaneous syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:1600471
RGD:8554872
RGD:11352608
RGD:11567236
RGD:11554173
G Hras HRas proto-oncogene, GTPase JBrowse link 1 214,178,404 214,181,841 RGD:11554173
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:1600471
RGD:8554872
RGD:11554173
G Map2k1 mitogen activated protein kinase kinase 1 JBrowse link 8 69,134,218 69,722,573 RGD:8554872
RGD:11554173
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
RGD:11554173
G Ptpn11 protein tyrosine phosphatase, non-receptor type 11 JBrowse link 12 40,895,515 40,955,999 RGD:8554872
RGD:11554173
G Snapc5 small nuclear RNA activating complex, polypeptide 5 JBrowse link 8 69,127,708 69,131,539 RGD:8554872
G Tipin timeless interacting protein JBrowse link 8 69,753,363 69,768,640 RGD:8554872
cardiofaciocutaneous syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Braf B-Raf proto-oncogene, serine/threonine kinase JBrowse link 4 67,389,331 67,520,549 RGD:8554872
RGD:7240710
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 RGD:8554872
G Map2k2 mitogen activated protein kinase kinase 2 JBrowse link 7 11,458,971 11,478,520 RGD:8554872
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kras KRAS proto-oncogene, GTPase JBrowse link 4 179,482,562 179,515,483 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 8 69,134,218 69,722,573 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 7 11,458,971 11,478,520 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 subunit JBrowse link 6 137,762,230 137,808,573 RGD:8554872
RGD:7240710
Chondrodysplasia, Megarbane-Dagher-Melki Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pam16 presequence translocase associated motor 16 JBrowse link 10 11,146,359 11,153,936 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 10 38,692,167 38,773,021 RGD:8554872
RGD:7240710
chromosome 17q11.2 deletion syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Rnf135 ring finger protein 135 JBrowse link 10 67,531,989 67,551,237 RGD:11554173
RGD:8554872
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdm1a lysine demethylase 1A JBrowse link 5 154,909,003 154,965,171 RGD:7240710
RGD:8554872
Coffin-Siris syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:8554872
RGD:13592920
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
RGD:11526783
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:8554872
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:8554872
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 20 13,679,955 13,702,821 RGD:8554872
Coffin-Siris syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:8554872
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
RGD:7240710
G Dpf2 double PHD fingers 2 JBrowse link 1 221,253,764 221,269,043 RGD:8554872
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:8554872
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:8554872
Coffin-Siris Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox4 SRY-box transcription factor 4 JBrowse link 17 37,615,022 37,619,728 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 7 141,355,623 141,366,725 RGD:7240710
RGD:8554872
Coffin-Siris syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 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 20 13,679,955 13,702,821 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 8 22,648,323 22,739,468 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 10 87,116,827 87,138,890 RGD:8554872
RGD:7240710
Coffin-Siris syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid2 AT-rich interaction domain 2 JBrowse link 7 137,680,564 137,798,329 RGD:8554872
RGD:7240710
Coffin-Siris Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpf2 double PHD fingers 2 JBrowse link 1 221,253,764 221,269,043 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 7 2,875,898 2,905,463 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 1 219,468,866 219,472,445 RGD:11554173
G Crlf1 cytokine receptor-like factor 1 JBrowse link 16 20,675,042 20,686,365 RGD:11554173
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 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 16 20,675,042 20,686,365 RGD:7240710
RGD:8554872
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 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 1 219,468,866 219,472,445 RGD:7240710
RGD:8554872
cold-induced sweating syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klhl7 kelch-like family member 7 JBrowse link 4 7,532,881 7,582,032 RGD:8554872
RGD:7240710
Combined Pituitary Hormone Deficiency, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Acbd6 acyl-CoA binding domain containing 6 JBrowse link 13 73,196,504 73,334,077 RGD:8554872
G Chmp2b charged multivesicular body protein 2B JBrowse link 11 2,666,405 2,692,213 RGD:8554872
G Hesx1 HESX homeobox 1 JBrowse link 16 2,616,538 2,636,708 RGD:8554872
G Lhx3 LIM homeobox 3 JBrowse link 3 3,653,861 3,662,509 RGD:8554872
G Lhx4 LIM homeobox 4 JBrowse link 13 73,348,874 73,400,416 RGD:8554872
G Pou1f1 POU class 1 homeobox 1 JBrowse link 11 2,645,659 2,662,581 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 17 49,833,194 49,922,932 RGD:8554872
RGD:7240710
Diets-Jongmans Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kdm3b lysine demethylase 3B JBrowse link 18 27,593,823 27,631,129 RGD:8554872
RGD:7240710
fibrochondrogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:11554173
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:11554173
fibrochondrogenesis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link 2 216,863,423 217,056,523 RGD:7240710
RGD:8554872
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 RGD:8554872
fibrochondrogenesis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 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 3 121,796,221 121,822,352 RGD:8554872
RGD:7240710
geleophysic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:8554872
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 RGD:8554872
geleophysic dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS-like 2 JBrowse link 3 5,624,473 5,654,890 RGD:7240710
RGD:8554872
geleophysic dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link 3 117,569,708 117,766,160 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 1 221,099,155 221,116,096 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 11 70,509,909 70,618,422 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 6 76,056,585 76,079,755 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 methyltransferase 2A JBrowse link 8 49,110,407 49,185,872 RGD:7240710
RGD:8554872
G Smc1a structural maintenance of chromosomes 1A JBrowse link X 21,710,976 21,755,708 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 69,626,682 69,657,373 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 FTO, alpha-ketoglutarate dependent dioxygenase JBrowse link 19 16,774,549 17,115,098 RGD:7240710
RGD:8554872
G Rpgrip1l Rpgrip1-like JBrowse link 19 17,115,266 17,208,055 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 13 49,195,325 49,243,327 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 15 109,734,092 110,046,729 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 homolog, NALCN channel complex subunit JBrowse link 9 73,492,907 73,686,578 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 2 237,751,646 237,958,497 RGD:8554872
RGD:7240710
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 6 11,662,356 11,737,427 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 4 145,264,445 145,280,943 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 deubiquitinase 6B JBrowse link 5 28,333,019 28,350,093 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 6 132,090,235 132,113,560 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-box helicase 6 JBrowse link 8 48,924,768 48,961,394 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 7 59,526,105 59,617,307 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 1 64,130,823 64,147,066 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 BAF chromatin remodeling complex subunit BCL11B JBrowse link 6 131,834,097 131,927,251 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 14 34,554,769 34,570,423 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 12 47,946,691 47,991,973 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 19 55,703,831 55,862,446 RGD:7240710
RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:8554872
G Trappc2l trafficking protein particle complex 2-like JBrowse link 19 55,423,350 55,428,551 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 11 35,011,007 35,262,362 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 JBrowse link 1 225,120,061 225,126,579 RGD:7240710
RGD:8554872
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:8554872
G Chst3 carbohydrate sulfotransferase 3 JBrowse link 20 29,731,828 29,768,656 RGD:11554173
G Col11a2 collagen type XI alpha 2 chain JBrowse link 20 3,829,324 3,859,022 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 1 141,434,183 141,452,592 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 4 152,087,393 152,380,023 RGD:8554872
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 8 72,029,550 72,198,363 RGD:8554872
RGD:7240710
macrocephaly-autism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Klln killin, p53-regulated DNA replication inhibitor JBrowse link 1 251,417,849 251,420,794 RGD:8554872
G Pten phosphatase and tensin homolog JBrowse link 1 251,421,814 251,487,634 RGD:7240710
RGD:8554872
RGD:11554173
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 19 11,473,538 11,509,500 RGD:8554872
G Apob apolipoprotein B JBrowse link 6 33,176,826 33,216,381 RGD:8554872
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:8554872
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Asxl3 ASXL transcriptional regulator 3 JBrowse link 18 13,322,148 13,496,230 RGD:8554872
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 2 204,003,742 204,032,023 RGD:8554872
G Atxn2l ataxin 2-like JBrowse link 1 197,908,087 197,920,400 RGD:8554872
G B3glct beta 3-glucosyltransferase JBrowse link 12 6,403,118 6,476,010 RGD:8554872
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link 17 9,549,605 9,558,672 RGD:8554872
G Bcl11a BAF chromatin remodeling complex subunit BCL11A JBrowse link 14 108,826,717 108,921,197 RGD:8554872
G Begain brain-enriched guanylate kinase-associated JBrowse link 6 132,936,964 132,972,569 RGD:8554872
G Cdh5 cadherin 5 JBrowse link 19 1,025,122 1,074,333 RGD:8554872
G Cdhr2 cadherin-related family member 2 JBrowse link 17 10,415,044 10,450,589 RGD:8554872
G Cdk13 cyclin-dependent kinase 13 JBrowse link 17 49,833,194 49,922,932 RGD:8554872
G Cers2 ceramide synthase 2 JBrowse link 2 196,487,656 196,495,930 RGD:8554872
G Chd3 chromodomain helicase DNA binding protein 3 JBrowse link 10 55,943,467 55,970,417 RGD:8554872
G Chd8 chromodomain helicase DNA binding protein 8 JBrowse link 15 28,612,932 28,672,574 RGD:8554872
G Cic capicua transcriptional repressor JBrowse link 1 82,135,440 82,163,007 RGD:8554872
G Cit citron rho-interacting serine/threonine kinase JBrowse link 12 46,334,669 46,494,152 RGD:8554872
G Cldn11 claudin 11 JBrowse link 2 115,823,541 115,836,846 RGD:8554872
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase JBrowse link 10 88,490,798 88,497,357 RGD:8554872
G Col6a3 collagen type VI alpha 3 chain JBrowse link 9 97,926,784 98,004,643 RGD:8554872
G Crebbp CREB binding protein JBrowse link 10 11,590,994 11,721,039 RGD:8554872
G Dbn1 drebrin 1 JBrowse link 17 9,679,511 9,693,878 RGD:8554872
G Ddx3x DEAD-box helicase 3, X-linked JBrowse link X 10,400,363 10,414,010 RGD:8554872
G Ddx41 DEAD-box helicase 41 JBrowse link 17 9,631,925 9,637,317 RGD:8554872
G Dkk3 dickkopf WNT signaling pathway inhibitor 3 JBrowse link 1 176,940,424 176,983,076 RGD:8554872
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link 10 56,625,845 56,655,543 RGD:8554872
G Dok3 docking protein 3 JBrowse link 17 9,639,064 9,644,090 RGD:8554872
G Dscaml1 DS cell adhesion molecule-like 1 JBrowse link 8 49,733,835 50,056,115 RGD:8554872
G Dsp desmoplakin JBrowse link 17 27,286,811 27,334,453 RGD:8554872
G Ehmt1 euchromatic histone lysine methyltransferase 1 JBrowse link 3 1,966,974 2,123,858 RGD:8554872
G Eif4e1b eukaryotic translation initiation factor 4E family member 1B JBrowse link 17 10,369,153 10,391,667 RGD:8554872
G Emilin3 elastin microfibril interfacer 3 JBrowse link 3 156,899,892 156,906,566 RGD:8554872
G F12 coagulation factor XII JBrowse link 17 9,736,577 9,744,420 RGD:8554872
G Faf2 Fas associated factor family member 2 JBrowse link 17 10,485,650 10,527,886 RGD:8554872
G Fam193b family with sequence similarity 193, member B JBrowse link 17 9,595,742 9,628,414 RGD:8554872
G Fam83h family with sequence similarity 83, member H JBrowse link 7 117,062,748 117,070,936 RGD:8554872
G Fbn2 fibrillin 2 JBrowse link 18 53,068,495 53,272,254 RGD:8554872
G Fbxo11 F-box protein 11 JBrowse link 6 11,662,356 11,737,427 RGD:8554872
G Fgfr4 fibroblast growth factor receptor 4 JBrowse link 17 9,990,072 10,004,339 RGD:8554872
G Fkbp8 FKBP prolyl isomerase 8 JBrowse link 16 20,645,956 20,652,890 RGD:8554872
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 JBrowse link 10 27,310,718 27,371,802 RGD:8554872
G Glt8d2 glycosyltransferase 8 domain containing 2 JBrowse link 7 27,146,382 27,196,689 RGD:8554872
G Gprin1 G protein-regulated inducer of neurite outgrowth 1 JBrowse link 17 10,411,129 10,415,023 RGD:8554872
G Grk6 G protein-coupled receptor kinase 6 JBrowse link 17 9,705,917 9,721,921 RGD:8554872
G Hdlbp high density lipoprotein binding protein JBrowse link 9 100,554,574 100,624,707 RGD:8554872
G Hk3 hexokinase 3 JBrowse link 17 10,134,726 10,152,976 RGD:8554872
G Kcnb1 potassium voltage-gated channel subfamily B member 1 JBrowse link 3 163,850,785 163,935,610 RGD:8554872
G Lman2 lectin, mannose-binding 2 JBrowse link 17 9,798,136 9,815,820 RGD:8554872
G Med13l mediator complex subunit 13-like JBrowse link 12 43,421,317 43,576,859 RGD:8554872
G Mettl11b methyltransferase like 11B JBrowse link 13 81,987,877 82,027,781 RGD:8554872
G Mtrex Mtr4 exosome RNA helicase JBrowse link 2 44,726,716 44,787,013 RGD:8554872
G Mxd3 Max dimerization protein 3 JBrowse link 17 9,830,326 9,834,052 RGD:8554872
G Neu3 neuraminidase 3 JBrowse link 1 164,803,574 164,814,777 RGD:8554872
G Nf2 neurofibromin 2 JBrowse link 14 84,996,905 85,088,547 RGD:8554872
G Nfib nuclear factor I/B JBrowse link 5 100,436,343 100,647,962 RGD:8554872
G Nfix nuclear factor I X JBrowse link 19 25,818,640 25,914,777 RGD:8554872
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link 17 9,840,859 9,955,391 RGD:8554872
G Nup205 nucleoporin 205 JBrowse link 4 62,703,779 62,773,931 RGD:8554872
G Pah phenylalanine hydroxylase JBrowse link 7 28,066,639 28,129,772 RGD:8554872
G Pdlim7 PDZ and LIM domain 7 JBrowse link 17 9,653,510 9,668,715 RGD:8554872
G Pfn3 profilin 3 JBrowse link 17 9,746,485 9,747,012 RGD:8554872
G Picalm phosphatidylinositol binding clathrin assembly protein JBrowse link 1 154,377,229 154,458,966 RGD:8554872
G Pkd1l2 polycystin 1 like 2 JBrowse link 19 49,535,122 49,624,291 RGD:8554872
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:8554872
G Prelid1 PRELI domain containing 1 JBrowse link 17 9,834,245 9,837,285 RGD:8554872
G Prr7 proline rich 7 (synaptic) JBrowse link 17 9,693,274 9,702,795 RGD:8554872
G Rab24 RAB24, member RAS oncogene family JBrowse link 17 9,837,259 9,839,464 RGD:8554872
G Ralgapb Ral GTPase activating protein non-catalytic subunit beta JBrowse link 3 154,910,291 154,983,021 RGD:8554872
G Ranbp10 RAN binding protein 10 JBrowse link 19 37,734,662 37,795,360 RGD:8554872
G Rgs14 regulator of G-protein signaling 14 JBrowse link 17 9,777,925 9,792,007 RGD:8554872
G Rnf44 ring finger protein 44 JBrowse link 17 10,458,036 10,472,410 RGD:8554872
G Satb1 SATB homeobox 1 JBrowse link 9 2,181,135 2,277,949 RGD:8554872
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link 3 51,687,910 51,822,008 RGD:8554872
G Sidt1 SID1 transmembrane family, member 1 JBrowse link 11 61,320,480 61,416,560 RGD:8554872
G Slc34a1 solute carrier family 34 member 1 JBrowse link 17 9,747,766 9,762,739 RGD:8554872
G Slc6a1 solute carrier family 6 member 1 JBrowse link 4 146,258,842 146,292,176 RGD:8554872
G Sncb synuclein, beta JBrowse link 17 10,384,472 10,392,776 RGD:8554872
G Spag9 sperm associated antigen 9 JBrowse link 10 81,693,736 81,827,562 RGD:8554872
G Stk11 serine/threonine kinase 11 JBrowse link 7 12,440,751 12,457,513 RGD:8554872
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link 20 5,535,434 5,564,657 RGD:8554872
G Taf1 TATA-box binding protein associated factor 1 JBrowse link X 71,412,291 71,486,456 RGD:8554872
G Tapbpl TAP binding protein-like JBrowse link 4 157,735,748 157,743,199 RGD:8554872
G Tbr1 T-box brain transcription factor 1 JBrowse link 3 47,677,720 47,685,902 RGD:8554872
G Tmed9 transmembrane p24 trafficking protein 9 JBrowse link 17 9,560,735 9,565,249 RGD:8554872
G Tpcn2 two pore segment channel 2 JBrowse link 1 218,419,182 218,448,902 RGD:8554872
G Tspan17 tetraspanin 17 JBrowse link 17 10,356,980 10,364,614 RGD:8554872
G Uimc1 ubiquitin interaction motif containing 1 JBrowse link 17 10,061,915 10,130,921 RGD:8554872
G Unc5a unc-5 netrin receptor A JBrowse link 17 10,152,949 10,208,599 RGD:8554872
G Wscd2 WSC domain containing 2 JBrowse link 12 48,814,840 48,861,823 RGD:8554872
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link 13 95,582,234 95,593,316 RGD:8554872
G Zbtb20 zinc finger and BTB domain containing 20 JBrowse link 11 62,014,925 62,561,113 RGD:8554872
G Zbtb46 zinc finger and BTB domain containing 46 JBrowse link 3 176,888,502 176,959,009 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:8554872
G Zfp346 zinc finger protein 346 JBrowse link 17 10,021,596 10,061,803 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 12 43,421,317 43,576,859 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 15 93,647,307 93,667,395 RGD:7240710
RGD:8554872
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Runx2 RUNX family transcription factor 2 JBrowse link 9 18,564,743 18,773,092 RGD:7240710
RGD:8554872
G Supt3h SPT3 homolog, SAGA and STAGA complex component JBrowse link 9 18,249,565 18,604,814 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 1 256,035,866 256,088,299 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 3 29,410,426 29,705,981 RGD:8554872
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link 3 29,857,289 29,985,932 RGD:7240710
RGD:8554872
RGD:11554173
G Zeb2os zinc finger E-box binding homeobox 2, opposite strand JBrowse link 3 29,994,753 29,997,626 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 10 83,231,187 83,311,987 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 10 83,231,187 83,311,987 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 12 16,950,704 16,974,896 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 lysine demethylase 6B JBrowse link 10 56,000,494 56,009,582 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 16 1,749,191 1,954,633 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 10 109,903,920 109,906,596 RGD:8554872
RGD:7240710
Nicolaides Baraitser Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
G Cdkl5 cyclin-dependent kinase-like 5 JBrowse link X 35,536,396 35,773,204 RGD:8554872
G Rs1 retinoschisin 1 JBrowse link X 35,749,957 35,777,243 RGD:8554872
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 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 1 185,210,922 185,326,314 RGD:7240710
RGD:8554872
oligomeganephronia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcl2 BCL2, apoptosis regulator JBrowse link 13 26,605,426 26,769,374 RGD:13592920
Omodysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpc6 glypican 6 JBrowse link 15 102,164,091 103,174,721 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 10 90,550,147 90,552,057 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 1 212,333,740 212,359,352 RGD:8554872
RGD:7240710
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ptf1a pancreas associated transcription factor 1a JBrowse link 17 86,199,623 86,201,477 RGD:7240710
RGD:8554872
RGD:11554173
Pierpont syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 TBL1X receptor 1 JBrowse link 2 107,221,913 107,359,229 RGD:8554872
RGD:7240710
renal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddx54 DEAD-box helicase 54 JBrowse link 12 41,469,642 41,484,887 RGD:8554872
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 5 4,275,728 4,495,525 RGD:8554872
G Kat6b lysine acetyltransferase 6B JBrowse link 15 2,811,933 2,966,833 RGD:8554872
Seckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atr ATR serine/threonine kinase JBrowse link 8 103,673,578 103,770,886 RGD:7240710
RGD:8554872
RGD:10053614
G Cenpj centromere protein J JBrowse link 15 36,745,672 36,809,228 RGD:8554872
G Cep152 centrosomal protein 152 JBrowse link 3 117,822,799 117,894,856 RGD:11554173
G Pcnt pericentrin JBrowse link 20 12,943,523 13,038,615 RGD:11554173
SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cript CXXC repeat containing interactor of PDZ3 domain JBrowse link 6 10,594,147 10,602,103 RGD:7240710
RGD:8554872
G Pigf phosphatidylinositol glycan anchor biosynthesis, class F JBrowse link 6 10,565,841 10,593,972 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 3 10,151,734 10,161,997 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 8 114,982,764 115,050,844 RGD:7240710
RGD:8554872
Silver-Russell Syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igf2 insulin-like growth factor 2 JBrowse link 1 215,828,102 215,839,081 RGD:7240710
RGD:8554872
G Ins1 insulin 1 JBrowse link 1 272,799,784 272,800,351 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 10 55,943,467 55,970,417 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 76,820,110 76,979,155 RGD:8554872
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link X 21,474,627 21,603,348 RGD:8554872
RGD:7240710
trichohepatoenteric syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nelfe negative elongation factor complex member E JBrowse link 20 4,530,328 4,536,085 RGD:8554872
G Skiv2l Ski2 like RNA helicase JBrowse link 20 4,519,457 4,530,177 RGD:11554173
RGD:8554872
G Ttc37 tetratricopeptide repeat domain 37 JBrowse link 2 2,891,265 3,037,602 RGD:11554173
RGD:8554872
trichohepatoenteric syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link 4 68,483,345 68,561,518 RGD:8554872
G Ttc37 tetratricopeptide repeat domain 37 JBrowse link 2 2,891,265 3,037,602 RGD:7240710
RGD:8554872
trichohepatoenteric syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Skiv2l Ski2 like RNA helicase JBrowse link 20 4,519,457 4,530,177 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 7 90,085,895 90,320,430 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 10 85,631,829 85,642,591 RGD:7240710
RGD:8554872
urofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpse2 heparanase 2 (inactive) JBrowse link 1 262,020,903 263,138,299 RGD:11554173
G Lrig2 leucine-rich repeats and immunoglobulin-like domains 2 JBrowse link 2 206,928,708 206,997,915 RGD:11554173
Urofacial Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpse2 heparanase 2 (inactive) JBrowse link 1 262,020,903 263,138,299 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 2 206,928,708 206,997,915 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 159,112,516 159,172,528 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 7 117,129,237 117,140,234 RGD:7240710
RGD:8554872
VERVERI-BRADY SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Qrich1 glutamine-rich 1 JBrowse link 8 117,305,803 117,346,738 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    Pathological Conditions, Signs and Symptoms 8489
      Pathologic Processes 5981
        Disease Attributes 550
          Facies 247
            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 6
            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
            Diets-Jongmans Syndrome 1
            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 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 0
            Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
            Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal 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
            Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 0
            Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
            Shprintzen Omphalocele Syndrome 0
            Silver-Russell Syndrome 3 2
            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 2
            blepharophimosis-intellectual disability syndrome, SBBYS type 2
            cardiofaciocutaneous syndrome + 8
            chromosome 17q11.2 deletion syndrome 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.