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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 1 273,119,826 273,155,412 RGD:9068941
G AFF4 AF4/FMR2 family member 4 JBrowse link 2 135,196,067 135,283,931 RGD:9068941
G CCBE1 collagen and calcium binding EGF domains 1 JBrowse link 1 161,320,627 161,556,539 RGD:9068941
G CHD8 chromodomain helicase DNA binding protein 8 JBrowse link 7 77,719,476 77,780,148 RGD:9068941
G DNMT3A DNA methyltransferase 3 alpha JBrowse link 3 113,501,972 113,609,148 RGD:9068941
G FMR1 FMRP translational regulator 1 JBrowse link X 120,361,232 120,400,282 RGD:9068941
G JAG1 jagged canonical Notch ligand 1 JBrowse link 17 19,591,248 19,629,659 RGD:9068941
G MSL3 MSL complex subunit 3 JBrowse link X 8,519,366 8,535,249 RGD:9068941
G TBCE tubulin folding cofactor E JBrowse link 14 55,816,663 55,901,215 RGD:9068941
autosomal dominant mental retardation 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRIP12 thyroid hormone receptor interactor 12 JBrowse link 15 130,784,567 130,940,497 RGD:7240710
RGD:9068941
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 3 129,797,438 129,800,568 RGD:7240710
RGD:9068941
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FOXC1 forkhead box C1 JBrowse link 7 837,088 840,593 RGD:9068941
G HMGN2 high mobility group nucleosomal binding domain 2 JBrowse link 6 83,857,114 83,861,907 RGD:9068941
G PAX6 paired box 6 JBrowse link 2 28,971,565 29,001,149 RGD:9068941
G PITX2 paired like homeodomain 2 JBrowse link 8 111,697,364 111,723,295 RGD:7240710
RGD:9068941
G PRDM5 PR/SET domain 5 JBrowse link 8 103,188,312 103,383,955 RGD:9068941
Ayme-Gripp syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAF MAF bZIP transcription factor JBrowse link 6 8,468,736 8,910,012 RGD:7240710
RGD:9068941
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTB actin beta JBrowse link 3 4,084,275 4,090,383 RGD:9068941
G ACTG1 actin gamma 1 JBrowse link 12 1,320,355 1,323,219 RGD:9068941
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTB actin beta JBrowse link 3 4,084,275 4,090,383 RGD:7240710
RGD:9068941
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTG1 actin gamma 1 JBrowse link 12 1,320,355 1,323,219 RGD:7240710
RGD:9068941
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G THOC6 THO complex 6 JBrowse link 3 39,161,442 39,164,631 RGD:7240710
RGD:9068941
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 77,602,871 77,643,109 RGD:9068941
G KAT6B lysine acetyltransferase 6B JBrowse link 14 77,390,790 77,597,674 RGD:7240710
RGD:9068941
Boomerang dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNB filamin B JBrowse link 13 39,789,259 39,938,751 RGD:7240710
RGD:9068941
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPS23 ribosomal protein S23 JBrowse link 2 90,679,038 90,680,681 RGD:7240710
RGD:9068941
Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADNP2 ADNP homeobox 2 JBrowse link 6 128,071,503 128,113,292 RGD:9068941
G ATP9B ATPase phospholipid transporting 9B (putative) JBrowse link 1 146,022,975 146,228,847 RGD:9068941
G CTDP1 CTD phosphatase subunit 1 JBrowse link 1 145,769,763 145,811,673 RGD:9068941
G GALR1 galanin receptor 1 JBrowse link 1 147,442,977 147,466,731 RGD:9068941
G HSBP1L1 heat shock factor binding protein 1 like 1 JBrowse link 6 127,960,330 127,972,241 RGD:9068941
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link 6 127,830,032 127,891,294 RGD:9068941
G MBP myelin basic protein JBrowse link 1 147,649,516 147,685,289 RGD:9068941
G NFATC1 nuclear factor of activated T cells 1 JBrowse link 1 145,940,099 146,002,897 RGD:9068941
G PARD6G par-6 family cell polarity regulator gamma JBrowse link 6 128,161,610 128,250,708 RGD:9068941
G RBFA ribosome binding factor A JBrowse link 6 128,030,397 128,048,061 RGD:9068941
G SALL3 spalt like transcription factor 3 JBrowse link 1 146,251,591 146,273,778 RGD:9068941
G SLC66A2 solute carrier family 66 member 2 JBrowse link 6 127,894,111 127,952,268 RGD:9068941
G TXNL4A thioredoxin like 4A JBrowse link 6 127,975,164 127,991,112 RGD:7240710
RGD:9068941
G ZNF236 zinc finger protein 236 JBrowse link 1 147,690,545 147,782,162 RGD:9068941
G ZNF516 zinc finger protein 516 JBrowse link 1 147,987,660 148,100,788 RGD:9068941
C syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CD96 CD96 molecule JBrowse link 13 148,103,424 148,192,272 RGD:7240710
RGD:9068941
cardiofaciocutaneous syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 18 8,957,963 9,132,558 RGD:9068941
G HRAS HRas proto-oncogene, GTPase JBrowse link 2 299,662 302,539 RGD:9068941
G KRAS KRAS proto-oncogene, GTPase JBrowse link 5 48,508,774 48,546,260 RGD:9068941
G MAP2K1 mitogen-activated protein kinase kinase 1 JBrowse link 1 164,381,892 164,469,313 RGD:9068941
G MAP2K2 mitogen-activated protein kinase kinase 2 JBrowse link 2 74,626,739 74,651,352 RGD:9068941
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 14 39,202,165 39,292,041 RGD:9068941
G SNAPC5 small nuclear RNA activating complex polypeptide 5 JBrowse link 1 164,459,111 164,475,053 RGD:9068941
G TIPIN TIMELESS interacting protein JBrowse link 1 164,349,196 164,369,297 RGD:9068941
cardiofaciocutaneous syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 18 8,957,963 9,132,558 RGD:7240710
RGD:9068941
G KRAS KRAS proto-oncogene, GTPase JBrowse link 5 48,508,774 48,546,260 RGD:9068941
G MAP2K2 mitogen-activated protein kinase kinase 2 JBrowse link 2 74,626,739 74,651,352 RGD:9068941
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRAS KRAS proto-oncogene, GTPase JBrowse link 5 48,508,774 48,546,260 RGD:7240710
RGD:9068941
cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAP2K1 mitogen-activated protein kinase kinase 1 JBrowse link 1 164,381,892 164,469,313 RGD:7240710
RGD:9068941
cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAP2K2 mitogen-activated protein kinase kinase 2 JBrowse link 2 74,626,739 74,651,352 RGD:7240710
RGD:9068941
Cerebellofaciodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit RGD:7240710
RGD:9068941
Chondrodysplasia, Megarbane-Dagher-Melki Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100513346 mitochondrial import inner membrane translocase subunit TIM16 JBrowse link 3 37,928,098 38,005,619 RGD:7240710
RGD:9068941
CHOPS Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AFF4 AF4/FMR2 family member 4 JBrowse link 2 135,196,067 135,283,931 RGD:7240710
RGD:9068941
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 12 42,793,755 42,808,937 RGD:9068941
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 6 80,903,407 80,971,875 RGD:7240710
RGD:9068941
Coffin-Siris syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARID1A AT-rich interaction domain 1A JBrowse link 6 84,049,729 84,124,302 RGD:9068941
G ARID1B AT-rich interaction domain 1B JBrowse link 1 9,791,627 10,227,381 RGD:9068941
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 219,624,773 219,815,438 RGD:9068941
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 2 69,717,175 69,810,301 RGD:9068941
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 14 49,874,981 49,906,043 RGD:9068941
Coffin-Siris syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARID1A AT-rich interaction domain 1A JBrowse link 6 84,049,729 84,124,302 RGD:9068941
G ARID1B AT-rich interaction domain 1B JBrowse link 1 9,791,627 10,227,381 RGD:7240710
RGD:9068941
G DPF2 double PHD fingers 2 JBrowse link 2 6,870,331 6,886,548 RGD:9068941
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 219,624,773 219,815,438 RGD:9068941
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 2 69,717,175 69,810,301 RGD:9068941
Coffin-Siris Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SOX4 SRY-box transcription factor 4 JBrowse link 7 16,886,834 16,895,488 RGD:7240710
RGD:9068941
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 5 15,992,348 16,005,778 RGD:7240710
RGD:9068941
Coffin-Siris syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARID1A AT-rich interaction domain 1A JBrowse link 6 84,049,729 84,124,302 RGD:7240710
RGD:9068941
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 14 49,874,981 49,906,043 RGD:7240710
RGD:9068941
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 2 69,717,175 69,810,301 RGD:7240710
RGD:9068941
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 12 21,784,410 21,807,170 RGD:7240710
RGD:9068941
Coffin-Siris syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARID2 AT-rich interaction domain 2 JBrowse link 5 76,637,385 76,800,155 RGD:7240710
RGD:9068941
Coffin-Siris Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DPF2 double PHD fingers 2 JBrowse link 2 6,870,331 6,886,548 RGD:7240710
RGD:9068941
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 5 21,563,426 21,586,790 RGD:7240710
RGD:9068941
cold-induced sweating syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCF1 cardiotrophin like cytokine factor 1 JBrowse link 2 5,142,315 5,152,750 RGD:9068941
G CRLF1 cytokine receptor like factor 1 JBrowse link 2 59,222,551 59,233,723 RGD:9068941
G KLHL7 kelch like family member 7 JBrowse link 9 91,901,876 91,971,706 RGD:9068941
cold-induced sweating syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CRLF1 cytokine receptor like factor 1 JBrowse link 2 59,222,551 59,233,723 RGD:7240710
RGD:9068941
G KLHL7 kelch like family member 7 JBrowse link 9 91,901,876 91,971,706 RGD:9068941
cold-induced sweating syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CLCF1 cardiotrophin like cytokine factor 1 JBrowse link 2 5,142,315 5,152,750 RGD:7240710
RGD:9068941
cold-induced sweating syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KLHL7 kelch like family member 7 JBrowse link 9 91,901,876 91,971,706 RGD:7240710
RGD:9068941
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 9 121,913,050 122,116,031 RGD:9068941
G HESX1 HESX homeobox 1 JBrowse link 13 39,046,961 39,088,926 RGD:9068941
G LHX3 LIM homeobox 3 RGD:9068941
G LHX4 LIM homeobox 4 JBrowse link 9 121,850,997 121,898,622 RGD:9068941
G POU1F1 POU class 1 homeobox 1 JBrowse link 13 168,510,671 168,530,394 RGD:7240710
RGD:9068941
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 18 54,310,311 54,430,060 RGD:7240710
RGD:9068941
fibrochondrogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A1 collagen type XI alpha 1 chain JBrowse link 4 115,638,381 115,841,679 RGD:9068941
G COL11A2 collagen type XI alpha 2 chain JBrowse link 7 25,204,496 25,234,880 RGD:9068941
Fibrochondrogenesis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A1 collagen type XI alpha 1 chain JBrowse link 4 115,638,381 115,841,679 RGD:7240710
RGD:9068941
G COL11A2 collagen type XI alpha 2 chain JBrowse link 7 25,204,496 25,234,880 RGD:9068941
Fibrochondrogenesis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A2 collagen type XI alpha 2 chain JBrowse link 7 25,204,496 25,234,880 RGD:7240710
RGD:9068941
Filippi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CKAP2L cytoskeleton associated protein 2 like JBrowse link 3 43,736,526 43,772,995 RGD:7240710
RGD:9068941
geleophysic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTSL2 ADAMTS like 2 JBrowse link 1 273,119,826 273,155,412 RGD:9068941
G FBN1 fibrillin 1 JBrowse link 1 123,102,011 123,359,649 RGD:9068941
geleophysic dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTSL2 ADAMTS like 2 JBrowse link 1 273,119,826 273,155,412 RGD:7240710
RGD:9068941
geleophysic dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBN1 fibrillin 1 JBrowse link 1 123,102,011 123,359,649 RGD:7240710
RGD:9068941
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 2 6,701,455 6,720,191 RGD:7240710
RGD:9068941
GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ZNF148 zinc finger protein 148 JBrowse link 13 134,968,774 135,093,828 RGD:7240710
RGD:9068941
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 7 64,762,863 64,789,919 RGD:7240710
RGD:9068941
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 9 45,743,566 45,828,559 RGD:7240710
RGD:9068941
G SMC1A structural maintenance of chromosomes 1A JBrowse link X 46,143,738 46,202,187 RGD:9068941
Growth Mental Deficiency Syndrome of Myhre term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SMAD4 SMAD family member 4 JBrowse link 1 100,521,843 100,633,501 RGD:7240710
RGD:9068941
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 6 31,177,112 31,564,674 RGD:7240710
RGD:9068941
G RPGRIP1L RPGRIP1 like JBrowse link 6 31,564,937 31,660,540 RGD:9068941
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 9 65,833,050 65,892,024 RGD:7240710
RGD:9068941
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 11 69,710,355 70,023,020 RGD:7240710
RGD:9068941
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 15 112,463,832 112,717,510 RGD:7240710
RGD:9068941
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 8 115,476,776 115,703,011 RGD:7240710
RGD:9068941
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 12 5,870,092 5,905,789 RGD:7240710
RGD:9068941
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 3 92,696,402 92,792,623 RGD:7240710
RGD:9068941
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 13 66,021,047 66,037,446 RGD:7240710
RGD:9068941
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 4 45,776,776 45,793,270 RGD:7240710
RGD:9068941
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CCNK cyclin K JBrowse link 7 120,487,140 120,514,223 RGD:7240710
RGD:9068941
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 9 46,025,616 46,063,836 RGD:7240710
RGD:9068941
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 5 34,470,911 34,548,968 RGD:7240710
RGD:9068941
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 6 55,975,628 55,993,140 RGD:7240710
RGD:9068941
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 7 120,205,008 120,295,737 RGD:7240710
RGD:9068941
Kahrizi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100525350 polyprenol reductase JBrowse link 8 42,024,352 42,049,209 RGD:7240710
RGD:9068941
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UBE3B ubiquitin protein ligase E3B JBrowse link 14 41,383,238 41,442,752 RGD:7240710
RGD:9068941
KBG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKRD11 ankyrin repeat domain 11 JBrowse link 6 455,856 612,878 RGD:7240710
RGD:9068941
G KAT6B lysine acetyltransferase 6B JBrowse link 14 77,390,790 77,597,674 RGD:9068941
G TRAPPC2L trafficking protein particle complex 2 like JBrowse link 6 865,498 869,253 RGD:9068941
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 13 201,231,803 201,525,943 RGD:7240710
RGD:9068941
Larsen-like syndrome B3GAT3 type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B3GAT3 beta-1,3-glucuronyltransferase 3 JBrowse link 2 9,119,621 9,125,081 RGD:7240710
RGD:9068941
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 2 80,349,732 80,359,878 RGD:9068941
G CHST3 carbohydrate sulfotransferase 3 JBrowse link 14 74,850,931 74,891,527 RGD:9068941
G COL11A2 collagen type XI alpha 2 chain JBrowse link 7 25,204,496 25,234,880 RGD:9068941
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 55,200,591 55,220,237 RGD:7240710
RGD:9068941
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 5 68,223,722 68,608,705 RGD:9068941
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 1 108,206,172 108,404,149 RGD:7240710
RGD:9068941
macrocephaly-autism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KLLN killin, p53 regulated DNA replication inhibitor JBrowse link 14 99,923,996 99,928,887 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 14 99,929,590 100,021,619 RGD:7240710
RGD:9068941
Marfanoid Mental Retardation Syndrome, Autosomal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AMFR autocrine motility factor receptor JBrowse link 6 29,366,812 29,417,800 RGD:9068941
G APOB apolipoprotein B JBrowse link 3 117,250,096 117,316,200 RGD:9068941
G ARID1A AT-rich interaction domain 1A JBrowse link 6 84,049,729 84,124,302 RGD:9068941
G ARID1B AT-rich interaction domain 1B JBrowse link 1 9,791,627 10,227,381 RGD:9068941
G ASXL3 ASXL transcriptional regulator 3 JBrowse link 6 117,334,177 117,518,589 RGD:9068941
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 4 104,353,506 104,384,321 RGD:9068941
G ATXN2L ataxin 2 like JBrowse link 3 18,506,082 18,519,060 RGD:9068941
G B3GLCT beta 3-glucosyltransferase JBrowse link 11 7,792,160 7,907,052 RGD:9068941
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 2 80,349,732 80,359,878 RGD:9068941
G BCL11A BAF chromatin remodeling complex subunit BCL11A JBrowse link 3 81,195,217 81,296,165 RGD:9068941
G BEGAIN brain enriched guanylate kinase associated JBrowse link 7 121,389,554 121,434,420 RGD:9068941
G CDH5 cadherin 5 JBrowse link 6 27,108,560 27,142,145 RGD:9068941
G CDHR2 cadherin related family member 2 JBrowse link 2 81,319,179 81,361,598 RGD:9068941
G CDK13 cyclin dependent kinase 13 JBrowse link 18 54,310,311 54,430,060 RGD:9068941
G CERS2 ceramide synthase 2 JBrowse link 4 98,250,773 98,260,504 RGD:9068941
G CHD3 chromodomain helicase DNA binding protein 3 JBrowse link 12 53,135,767 53,163,244 RGD:9068941
G CHD8 chromodomain helicase DNA binding protein 8 JBrowse link 7 77,719,476 77,780,148 RGD:9068941
G CIC capicua transcriptional repressor JBrowse link 6 49,638,986 49,664,146 RGD:9068941
G CIT citron rho-interacting serine/threonine kinase JBrowse link 14 33,009,828 33,195,985 RGD:9068941
G CLDN11 claudin 11 JBrowse link 13 109,075,672 109,089,097 RGD:9068941
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase JBrowse link 12 20,758,081 20,765,655 RGD:9068941
G COL6A3 collagen type VI alpha 3 chain JBrowse link 15 137,011,549 137,103,687 RGD:9068941
G CREBBP CREB binding protein JBrowse link 3 38,388,366 38,530,243 RGD:9068941
G DBN1 drebrin 1 JBrowse link 2 80,480,603 80,495,797 RGD:9068941
G DDX3X DEAD-box helicase 3 X-linked JBrowse link X 36,988,031 37,005,496 RGD:9068941
G DDX41 DEAD-box helicase 41 JBrowse link 2 80,433,065 80,445,484 RGD:9068941
G DKK3 dickkopf WNT signaling pathway inhibitor 3 JBrowse link 2 47,385,244 47,444,664 RGD:9068941
G DLG4 discs large MAGUK scaffold protein 4 JBrowse link 12 52,550,138 52,574,021 RGD:9068941
G DOK3 docking protein 3 JBrowse link 2 80,440,774 80,445,484 RGD:9068941
G DSCAML1 DS cell adhesion molecule like 1 JBrowse link 9 44,785,142 45,153,256 RGD:9068941
G DSP desmoplakin JBrowse link 7 4,862,649 4,915,626 RGD:9068941
G EHMT1 euchromatic histone lysine methyltransferase 1 RGD:9068941
G EIF4E1B eukaryotic translation initiation factor 4E family member 1B JBrowse link 2 81,277,086 81,281,668 RGD:9068941
G EMILIN3 elastin microfibril interfacer 3 JBrowse link 17 44,006,838 44,013,501 RGD:9068941
G F12 coagulation factor XII JBrowse link 2 80,527,451 80,544,835 RGD:9068941
G FAF2 Fas associated factor family member 2 JBrowse link 2 81,401,852 81,454,272 RGD:9068941
G FAM193B family with sequence similarity 193 member B JBrowse link 2 80,396,371 80,430,074 RGD:9068941
G FAM83H family with sequence similarity 83 member H JBrowse link 4 887,472 907,523 RGD:9068941
G FBN2 fibrillin 2 JBrowse link 2 131,150,665 131,370,241 RGD:9068941
G FBXO11 F-box protein 11 JBrowse link 3 92,696,402 92,792,623 RGD:9068941
G FGFR4 fibroblast growth factor receptor 4 JBrowse link 2 80,841,536 80,853,791 RGD:9068941
G FKBP8 FKBP prolyl isomerase 8 JBrowse link 2 59,256,546 59,267,171 RGD:9068941
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 JBrowse link 16 61,656,583 61,723,428 RGD:9068941
G GLT8D2 glycosyltransferase 8 domain containing 2 JBrowse link 5 80,409,915 80,473,964 RGD:9068941
G GPRIN1 G protein regulated inducer of neurite outgrowth 1 JBrowse link 2 81,307,732 81,319,183 RGD:9068941
G GRK6 G protein-coupled receptor kinase 6 JBrowse link 2 80,496,105 80,527,208 RGD:9068941
G HDLBP high density lipoprotein binding protein JBrowse link 15 139,957,703 140,025,336 RGD:9068941
G HK3 hexokinase 3 JBrowse link 2 81,042,401 81,060,832 RGD:9068941
G KCNB1 potassium voltage-gated channel subfamily B member 1 JBrowse link 17 51,032,163 51,152,566 RGD:9068941
G LMAN2 lectin, mannose binding 2 JBrowse link 2 80,595,064 80,636,168 RGD:9068941
G LOC100515171 sodium channel protein type 2 subunit alpha JBrowse link 15 71,864,753 71,999,219 RGD:9068941
G MED13L mediator complex subunit 13L JBrowse link 14 36,061,834 36,384,567 RGD:9068941
G METTL11B methyltransferase like 11B JBrowse link 4 80,854,850 80,932,412 RGD:9068941
G MTREX Mtr4 exosome RNA helicase JBrowse link 16 34,478,227 34,605,508 RGD:9068941
G MXD3 MAX dimerization protein 3 JBrowse link 2 80,636,778 80,641,346 RGD:9068941
G NEU3 neuraminidase 3 JBrowse link 9 9,315,263 9,333,878 RGD:9068941
G NF2 neurofibromin 2 JBrowse link 14 46,653,869 46,726,421 RGD:9068941
G NFIB nuclear factor I B JBrowse link 1 208,182,397 208,427,504 RGD:9068941
G NFIX nuclear factor I X JBrowse link 2 65,954,808 66,056,591 RGD:9068941
G NSD1 nuclear receptor binding SET domain protein 1 JBrowse link 2 80,649,882 80,810,934 RGD:9068941
G NUP205 nucleoporin 205 JBrowse link 18 13,674,301 13,777,773 RGD:9068941
G PAH phenylalanine hydroxylase JBrowse link 5 81,385,401 81,460,569 RGD:9068941
G PDLIM7 PDZ and LIM domain 7 JBrowse link 2 80,453,013 80,472,660 RGD:9068941
G PFN3 profilin 3 JBrowse link 2 80,545,495 80,546,524 RGD:9068941
G PICALM phosphatidylinositol binding clathrin assembly protein JBrowse link 9 19,835,934 19,947,239 RGD:9068941
G PKD1L2 polycystin 1 like 2 JBrowse link 6 7,065,143 7,166,620 RGD:9068941
G PNPLA6 patatin like phospholipase domain containing 6 JBrowse link 2 71,577,165 71,602,756 RGD:9068941
G PRELID1 PRELI domain containing 1 JBrowse link 2 80,641,844 80,646,390 RGD:9068941
G PRR7 proline rich 7, synaptic JBrowse link 2 80,496,105 80,508,825 RGD:9068941
G RAB24 RAB24, member RAS oncogene family JBrowse link 2 80,646,426 80,651,498 RGD:9068941
G RALGAPB Ral GTPase activating protein non-catalytic subunit beta JBrowse link 17 41,507,756 41,606,903 RGD:9068941
G RANBP10 RAN binding protein 10 JBrowse link 6 28,352,001 28,428,383 RGD:9068941
G RGS14 regulator of G protein signaling 14 JBrowse link 2 80,574,411 80,589,998 RGD:9068941
G RNF44 ring finger protein 44 JBrowse link 2 81,372,427 81,390,232 RGD:9068941
G SATB1 SATB homeobox 1 JBrowse link 13 5,315,985 5,410,686 RGD:9068941
G SIDT1 SID1 transmembrane family member 1 JBrowse link 13 146,300,172 146,396,552 RGD:9068941
G SLC34A1 solute carrier family 34 member 1 JBrowse link 2 80,548,208 80,563,380 RGD:9068941
G SLC6A1 solute carrier family 6 member 1 JBrowse link 13 67,156,786 67,199,092 RGD:9068941
G SNCB synuclein beta JBrowse link 2 81,287,764 81,302,859 RGD:9068941
G SPAG9 sperm associated antigen 9 JBrowse link 12 27,225,377 27,370,337 RGD:9068941
G STK11 serine/threonine kinase 11 JBrowse link 2 77,229,888 77,249,322 RGD:9068941
G SYNGAP1 synaptic Ras GTPase activating protein 1 JBrowse link 7 29,723,745 29,752,351 RGD:9068941
G TAF1 TATA-box binding protein associated factor 1 JBrowse link X 57,382,211 57,466,700 RGD:9068941
G TAPBPL TAP binding protein like JBrowse link 5 64,188,184 64,197,033 RGD:9068941
G TBR1 T-box brain transcription factor 1 JBrowse link 15 68,208,884 68,222,993 RGD:9068941
G TMED9 transmembrane p24 trafficking protein 9 JBrowse link 2 80,364,532 80,368,434 RGD:9068941
G TPCN2 two pore segment channel 2 JBrowse link 2 4,069,267 4,105,065 RGD:9068941
G TSPAN17 tetraspanin 17 JBrowse link 2 81,256,989 81,276,638 RGD:9068941
G UIMC1 ubiquitin interaction motif containing 1 JBrowse link 2 80,895,631 81,040,712 RGD:9068941
G UNC5A unc-5 netrin receptor A JBrowse link 2 81,061,096 81,126,191 RGD:9068941
G WSCD2 WSC domain containing 2 JBrowse link 14 42,482,923 42,584,388 RGD:9068941
G ZBTB18 zinc finger and BTB domain containing 18 JBrowse link 10 16,913,022 16,921,722 RGD:9068941
G ZBTB20 zinc finger and BTB domain containing 20 JBrowse link 13 144,855,821 145,668,320 RGD:9068941
G ZBTB46 zinc finger and BTB domain containing 46 JBrowse link 17 62,659,779 62,715,221 RGD:9068941
G ZEB2 zinc finger E-box binding homeobox 2 JBrowse link 15 7,498,879 7,631,347 RGD:9068941
G ZNF346 zinc finger protein 346 JBrowse link 2 80,871,576 80,895,592 RGD:9068941
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 13L JBrowse link 14 36,061,834 36,384,567 RGD:7240710
RGD:9068941
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 11 49,131,663 49,151,380 RGD:7240710
RGD:9068941
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 7 40,106,581 40,353,304 RGD:7240710
RGD:9068941
G SUPT3H SPT3 homolog, SAGA and STAGA complex component JBrowse link 7 39,763,303 40,161,123 RGD:9068941
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 14 104,125,839 104,177,381 RGD:7240710
RGD:9068941
Mowat-Wilson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GTDC1 glycosyltransferase like domain containing 1 JBrowse link 15 7,685,969 8,162,784 RGD:9068941
G ZEB2 zinc finger E-box binding homeobox 2 JBrowse link 15 7,498,879 7,631,347 RGD:7240710
RGD:9068941
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 12 25,792,621 25,860,630 RGD:7240710
RGD:9068941
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 12 25,792,621 25,860,630 RGD:7240710
RGD:9068941
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 3 979,403 1,005,584 RGD:7240710
RGD:9068941
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 12 53,087,072 53,108,949 RGD:7240710
RGD:9068941
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 81,409,067 81,647,808 RGD:7240710
RGD:9068941
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 12 981,072 984,222 RGD:7240710
RGD:9068941
Nicolaides Baraitser Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARID1B AT-rich interaction domain 1B JBrowse link 1 9,791,627 10,227,381 RGD:9068941
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 14,858,826 15,096,969 RGD:9068941
G RS1 retinoschisin 1 JBrowse link X 15,080,972 15,099,426 RGD:9068941
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 219,624,773 219,815,438 RGD:7240710
RGD:9068941
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 2 41,829,969 42,024,062 RGD:7240710
RGD:9068941
oligomeganephronia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCL2 BCL2 apoptosis regulator JBrowse link 1 158,337,403 158,518,214 RGD:9068941
Omodysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPC6 glypican 6 JBrowse link 11 62,436,143 63,560,908 RGD:7240710
RGD:9068941
Omodysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FZD2 frizzled class receptor 2 JBrowse link 12 18,740,417 18,742,301 RGD:7240710
RGD:9068941
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 14 141,233,854 141,253,377 RGD:7240710
RGD:9068941
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 10 51,817,697 51,820,147 RGD:7240710
RGD:9068941
Pierpont syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBL1XR1 TBL1X receptor 1 JBrowse link 13 115,312,444 115,488,228 RGD:7240710
RGD:9068941
renal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DDX54 DEAD-box helicase 54 JBrowse link 14 38,650,660 38,668,266 RGD:9068941
G EYA1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 4 63,970,939 64,328,107 RGD:9068941
G KAT6B lysine acetyltransferase 6B JBrowse link 14 77,390,790 77,597,674 RGD:9068941
Seckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATR ATR serine/threonine kinase JBrowse link 13 83,175,515 83,289,986 RGD:7240710
RGD:9068941
G CENPJ centromere protein J JBrowse link 11 289,660 357,920 RGD:9068941
G CEP152 centrosomal protein 152 JBrowse link 1 122,876,146 122,979,851 RGD:9068941
G PCNT pericentrin RGD:9068941
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 2 1,469,183 1,496,417 RGD:7240710
RGD:9068941
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 3 93,911,425 93,925,916 RGD:7240710
RGD:9068941
G PIGF phosphatidylinositol glycan anchor biosynthesis class F JBrowse link 3 93,925,886 93,973,531 RGD:9068941
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 1 270,748,534 270,757,717 RGD:7240710
RGD:9068941
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 13 34,227,884 34,308,099 RGD:7240710
RGD:9068941
Snijders Blok-Campeau Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHD3 chromodomain helicase DNA binding protein 3 JBrowse link 12 53,135,767 53,163,244 RGD:7240710
RGD:9068941
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 61,584,028 61,872,341 RGD:9068941
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link X 46,281,958 46,444,315 RGD:7240710
RGD:9068941
trichohepatoenteric syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G NELFE negative elongation factor complex member E JBrowse link 7 24,040,525 24,046,932 RGD:9068941
G SKIV2L Ski2 like RNA helicase JBrowse link 7 24,047,000 24,057,621 RGD:9068941
G TTC37 tetratricopeptide repeat domain 37 JBrowse link 2 102,079,675 102,164,020 RGD:9068941
trichohepatoenteric syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGK acylglycerol kinase JBrowse link 18 8,263,761 8,369,060 RGD:9068941
G TTC37 tetratricopeptide repeat domain 37 JBrowse link 2 102,079,675 102,164,020 RGD:7240710
RGD:9068941
trichohepatoenteric syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SKIV2L Ski2 like RNA helicase JBrowse link 7 24,047,000 24,057,621 RGD:7240710
RGD:9068941
trichorhinophalangeal syndrome type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRPS1 transcriptional repressor GATA binding 1 JBrowse link 4 22,905,627 23,162,862 RGD:7240710
RGD:9068941
Turnpenny-Fry Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCGF2 polycomb group ring finger 2 JBrowse link 12 23,362,631 23,375,779 RGD:7240710
RGD:9068941
urofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPSE2 heparanase 2 (inactive) JBrowse link 14 109,764,511 110,469,064 RGD:9068941
G LRIG2 leucine rich repeats and immunoglobulin like domains 2 JBrowse link 4 107,348,662 107,511,308 RGD:9068941
Urofacial Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPSE2 heparanase 2 (inactive) JBrowse link 14 109,764,511 110,469,064 RGD:7240710
RGD:9068941
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 4 107,348,662 107,511,308 RGD:7240710
RGD:9068941
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 111,309,989 111,367,900 RGD:9068941
RGD:7240710
Verheij Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PUF60 poly(U) binding splicing factor 60 JBrowse link 4 812,137 824,321 RGD:7240710
RGD:9068941
VERVERI-BRADY SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G QRICH1 glutamine rich 1 JBrowse link 13 31,663,812 31,714,523 RGD:7240710
RGD:9068941

Term paths to the root
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Term Annotations click to browse term
  disease 12431
    Pathological Conditions, Signs and Symptoms 7264
      Pathologic Processes 4940
        Disease Attributes 528
          Facies 243
            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 2
            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.