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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 9 133,532,164 133,575,519 RGD:11554173
G AFF4 AF4/FMR2 family member 4 JBrowse link 5 132,875,381 132,963,655 RGD:11554173
G CCBE1 collagen and calcium binding EGF domains 1 JBrowse link 18 59,430,939 59,698,181 RGD:11554173
G CHD8 chromodomain helicase DNA binding protein 8 JBrowse link 14 21,385,199 21,456,123 RGD:11554173
G DNMT3A DNA methyltransferase 3 alpha JBrowse link 2 25,227,874 25,342,590 RGD:11554173
G FMR1 FMRP translational regulator 1 JBrowse link X 147,911,919 147,951,127 RGD:11554173
G JAG1 jagged canonical Notch ligand 1 JBrowse link 20 10,637,684 10,673,999 RGD:11554173
G MSL3 MSL complex subunit 3 JBrowse link X 11,758,159 11,775,772 RGD:11554173
G RAB40AL RAB40A like JBrowse link X 102,937,272 102,938,300 RGD:11554173
G TBCE tubulin folding cofactor E JBrowse link 1 235,367,360 235,452,443 RGD:11554173
autosomal dominant mental retardation 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRIP12 thyroid hormone receptor interactor 12 JBrowse link 2 229,763,837 229,923,234 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 2 5,692,384 5,701,385 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 6 1,609,915 1,613,897 RGD:11554173
G HMGN2 high mobility group nucleosomal binding domain 2 JBrowse link 1 26,472,440 26,476,642 RGD:13592920
G PAX6 paired box 6 JBrowse link 11 31,784,792 31,817,961 RGD:11554173
G PITX2 paired like homeodomain 2 JBrowse link 4 110,617,423 110,642,123 RGD:8554872
RGD:11554173
RGD:7240710
G PRDM5 PR/SET domain 5 JBrowse link 4 120,684,906 120,922,866 RGD:8554872
Ayme-Gripp syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAF MAF bZIP transcription factor JBrowse link 16 79,202,624 79,601,952 RGD:8554872
RGD:7240710
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTB actin beta JBrowse link 7 5,527,148 5,530,601 RGD:13592920
RGD:8554872
G ACTG1 actin gamma 1 JBrowse link 17 81,509,971 81,512,799 RGD:13592920
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTB actin beta JBrowse link 7 5,527,148 5,530,601 RGD:8554872
RGD:7240710
Baraitser-Winter Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTG1 actin gamma 1 JBrowse link 17 81,509,971 81,512,799 RGD:8554872
RGD:7240710
Beaulieu-Boycott-Innes Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G THOC6 THO complex 6 JBrowse link 16 3,024,035 3,027,750 RGD:8554872
RGD:7240710
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 10 75,026,427 75,073,827 RGD:8554872
G KAT6B lysine acetyltransferase 6B JBrowse link 10 74,824,927 75,032,624 RGD:9588484
RGD:8554872
RGD:7240710
Boomerang dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNB filamin B JBrowse link 3 58,008,422 58,172,251 RGD:8554872
RGD:7240710
Brachycephaly, Trichomegaly, and Developmental Delay term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RPS23 ribosomal protein S23 JBrowse link 5 82,273,320 82,278,354 RGD:8554872
RGD:7240710
Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADNP2 ADNP homeobox 2 JBrowse link 18 80,109,251 80,140,346 RGD:8554872
G ATP9B ATPase phospholipid transporting 9B (putative) JBrowse link 18 79,069,285 79,378,391 RGD:8554872
G CTDP1 CTD phosphatase subunit 1 JBrowse link 18 79,679,803 79,756,625 RGD:8554872
G GALR1 galanin receptor 1 JBrowse link 18 77,249,848 77,277,900 RGD:8554872
G HSBP1L1 heat shock factor binding protein 1 like 1 JBrowse link 18 79,964,643 79,970,822 RGD:8554872
G KCNG2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link 18 79,797,963 79,903,512 RGD:8554872
G LINC00683 long intergenic non-protein coding RNA 683 JBrowse link 18 76,619,777 76,623,559 RGD:8554872
G LINC01879 long intergenic non-protein coding RNA 1879 JBrowse link 18 76,690,029 76,693,636 RGD:8554872
G MBP myelin basic protein JBrowse link 18 76,978,833 77,133,708 RGD:8554872
G NFATC1 nuclear factor of activated T cells 1 JBrowse link 18 79,395,930 79,529,323 RGD:8554872
G PARD6G par-6 family cell polarity regulator gamma JBrowse link 18 80,157,232 80,247,514 RGD:8554872
G RBFA ribosome binding factor A JBrowse link 18 80,034,434 80,050,651 RGD:8554872
G SALL3 spalt like transcription factor 3 JBrowse link 18 78,980,275 78,998,969 RGD:8554872
G SLC66A2 solute carrier family 66 member 2 JBrowse link 18 79,902,420 79,951,665 RGD:8554872
G TXNL4A thioredoxin like 4A JBrowse link 18 79,970,813 80,033,936 RGD:8554872
RGD:7240710
G ZNF236 zinc finger protein 236 JBrowse link 18 76,822,550 76,970,732 RGD:8554872
G ZNF516 zinc finger protein 516 JBrowse link 18 76,357,682 76,495,255 RGD:8554872
C syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CD96 CD96 molecule JBrowse link 3 111,542,118 111,665,996 RGD:8554872
RGD:11554173
RGD:7240710
cardiofaciocutaneous syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRAF B-Raf proto-oncogene, serine/threonine kinase JBrowse link 7 140,713,328 140,924,929 RGD:1600471
RGD:8554872
RGD:11554173
RGD:11352608
RGD:11567236
G HRAS HRas proto-oncogene, GTPase JBrowse link 11 532,242 535,576 RGD:11554173
G KRAS KRAS proto-oncogene, GTPase JBrowse link 12 25,205,246 25,250,929 RGD:1600471
RGD:8554872
RGD:11554173
G MAP2K1 mitogen-activated protein kinase kinase 1 JBrowse link 15 66,386,912 66,491,544 RGD:8554872
RGD:11554173
G MAP2K2 mitogen-activated protein kinase kinase 2 JBrowse link 19 4,090,321 4,124,184 RGD:8554872
RGD:11554173
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 12 112,418,915 112,509,918 RGD:8554872
RGD:11554173
G SNAPC5 small nuclear RNA activating complex polypeptide 5 JBrowse link 15 66,489,748 66,497,815 RGD:8554872
G TIPIN TIMELESS interacting protein JBrowse link 15 66,334,974 66,387,273 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 7 140,713,328 140,924,929 RGD:8554872
RGD:7240710
G KRAS KRAS proto-oncogene, GTPase JBrowse link 12 25,205,246 25,250,929 RGD:8554872
G MAP2K2 mitogen-activated protein kinase kinase 2 JBrowse link 19 4,090,321 4,124,184 RGD:8554872
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRAS KRAS proto-oncogene, GTPase JBrowse link 12 25,205,246 25,250,929 RGD:8554872
RGD:7240710
cardiofaciocutaneous syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAP2K1 mitogen-activated protein kinase kinase 1 JBrowse link 15 66,386,912 66,491,544 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 19 4,090,321 4,124,184 RGD:8554872
RGD:7240710
Cerebellofaciodental Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BRF1 BRF1 RNA polymerase III transcription initiation factor subunit JBrowse link 14 105,209,286 105,315,577 RGD:8554872
RGD:7240710
Chondrodysplasia, Megarbane-Dagher-Melki Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CORO7-PAM16 CORO7-PAM16 readthrough JBrowse link 16 4,340,251 4,416,596 RGD:8554872
G PAM16 presequence translocase associated motor 16 JBrowse link 16 4,340,251 4,351,321 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 5 132,875,381 132,963,655 RGD:8554872
RGD:7240710
chromosome 17q11.2 deletion syndrome, 1.4Mb term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RNF135 ring finger protein 135 JBrowse link 17 30,968,642 30,999,911 RGD:8554872
RGD:11554173
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KDM1A lysine demethylase 1A JBrowse link 1 23,019,443 23,083,691 RGD:8554872
RGD:7240710
Coffin-Siris syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARID1A AT-rich interaction domain 1A JBrowse link 1 26,696,015 26,782,104 RGD:8554872
RGD:13592920
G ARID1B AT-rich interaction domain 1B JBrowse link 6 156,776,026 157,210,779 RGD:11526783
RGD:8554872
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 9 2,015,347 2,193,624 RGD:8554872
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 19 10,960,997 11,062,277 RGD:8554872
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 22 23,786,966 23,838,009 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 1 26,696,015 26,782,104 RGD:8554872
G ARID1B AT-rich interaction domain 1B JBrowse link 6 156,776,026 157,210,779 RGD:8554872
RGD:7240710
G DPF2 double PHD fingers 2 JBrowse link 11 65,333,840 65,354,262 RGD:8554872
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 9 2,015,347 2,193,624 RGD:8554872
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 19 10,960,997 11,062,277 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 6 21,593,751 21,598,619 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 12 50,085,236 50,100,707 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 1 26,696,015 26,782,104 RGD:8554872
RGD:7240710
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 22 23,786,966 23,838,009 RGD:8554872
RGD:7240710
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 19 10,960,997 11,062,277 RGD:8554872
RGD:7240710
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 17 40,624,962 40,647,818 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 12 45,729,706 45,908,037 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 11 65,333,840 65,354,262 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 12 56,162,359 56,189,504 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 11 67,364,168 67,374,177 RGD:11554173
G CRLF1 cytokine receptor like factor 1 JBrowse link 19 18,593,237 18,606,799 RGD:11554173
G KLHL7 kelch like family member 7 JBrowse link 7 23,105,734 23,177,914 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 19 18,593,237 18,606,799 RGD:7240710
RGD:8554872
G KLHL7 kelch like family member 7 JBrowse link 7 23,105,734 23,177,914 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 11 67,364,168 67,374,177 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 7 23,105,734 23,177,914 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 1 180,269,663 180,502,577 RGD:8554872
G HESX1 HESX homeobox 1 JBrowse link 3 57,197,838 57,227,643 RGD:8554872
G LHX3 LIM homeobox 3 JBrowse link 9 136,196,250 136,205,128 RGD:8554872
G LHX4 LIM homeobox 4 JBrowse link 1 180,228,372 180,278,984 RGD:8554872
G LHX4-AS1 LHX4 antisense RNA 1 JBrowse link 1 180,269,663 180,274,681 RGD:8554872
G POU1F1 POU class 1 homeobox 1 JBrowse link 3 87,259,404 87,276,584 RGD:8554872
RGD:7240710
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 7 39,949,664 40,099,580 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 1 102,876,467 103,108,580 RGD:11554173
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,162,692 33,193,009 RGD:11554173
Fibrochondrogenesis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A1 collagen type XI alpha 1 chain JBrowse link 1 102,876,467 103,108,580 RGD:7240710
RGD:8554872
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,162,692 33,193,009 RGD:8554872
Fibrochondrogenesis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,162,692 33,193,009 RGD:8554872
RGD:7240710
Filippi Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CKAP2L cytoskeleton associated protein 2 like JBrowse link 2 112,736,349 112,764,617 RGD:8554872
RGD:7240710
geleophysic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTSL2 ADAMTS like 2 JBrowse link 9 133,532,164 133,575,519 RGD:8554872
G FBN1 fibrillin 1 JBrowse link 15 48,408,313 48,645,709 RGD:8554872
geleophysic dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTSL2 ADAMTS like 2 JBrowse link 9 133,532,164 133,575,519 RGD:8554872
RGD:7240710
geleophysic dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBN1 fibrillin 1 JBrowse link 15 48,408,313 48,645,709 RGD:8554872
RGD:7240710
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 11 65,538,559 65,558,389 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 ZNF148 zinc finger protein 148 JBrowse link 3 125,225,669 125,375,354 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 14 35,085,467 35,122,662 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 11 118,436,492 118,526,832 RGD:8554872
RGD:7240710
G SMC1A structural maintenance of chromosomes 1A JBrowse link X 53,374,149 53,422,728 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 51,030,213 51,085,042 RGD:12880042
RGD:8554872
RGD:11554173
RGD:7240710
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 16 53,703,963 54,121,941 RGD:8554872
RGD:7240710
G RPGRIP1L RPGRIP1 like JBrowse link 16 53,598,153 53,703,938 RGD:8554872
hereditary spastic paraplegia 23 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DSTYK dual serine/threonine and tyrosine protein kinase JBrowse link 1 205,142,497 205,211,702 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 13 101,053,774 101,417,206 RGD:12911215
RGD:8554872
RGD:7240710
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 2 209,771,832 209,999,300 RGD:11528248
RGD:8554872
RGD:7240710
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 4 106,041,599 106,316,683 RGD:8554872
RGD:7240710
Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TMEM94 transmembrane protein 94 JBrowse link 17 75,441,159 75,500,452 RGD:7240710
RGD:8554872
INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBXO11 F-box protein 11 JBrowse link 2 47,806,920 47,906,498 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 3 9,731,729 9,748,015 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 8 91,070,305 91,087,095 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 14 99,481,409 99,512,440 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 11 118,747,763 118,791,696 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 12 70,242,993 70,355,257 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 19 54,137,689 54,155,690 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 14 99,169,287 99,272,197 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 4 55,346,228 55,373,100 RGD:8554872
RGD:7240710
Kaufman oculocerebrofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G UBE3B ubiquitin protein ligase E3B JBrowse link 12 109,477,410 109,543,628 RGD:8554872
RGD:11554173
RGD:7240710
KBG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKRD11 ankyrin repeat domain 11 JBrowse link 16 89,267,619 89,490,561 RGD:8554872
RGD:7240710
G KAT6B lysine acetyltransferase 6B JBrowse link 10 74,824,927 75,032,624 RGD:8554872
G TRAPPC2L trafficking protein particle complex 2 like JBrowse link 16 88,856,220 88,862,686 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 21 37,607,373 37,916,457 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 11 62,615,296 62,621,986 RGD:7240710
RGD:8554872
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 5 177,600,102 177,610,330 RGD:8554872
G CHST3 carbohydrate sulfotransferase 3 JBrowse link 10 71,964,395 72,013,562 RGD:11554173
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,162,692 33,193,009 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 15 89,627,977 89,663,086 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 12 990,030 1,495,933 RGD:8554872
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 15 63,608,618 63,833,948 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 10 87,859,161 87,863,437 RGD:8554872
G PTEN phosphatase and tensin homolog JBrowse link 10 87,863,625 87,971,930 RGD:12832751
RGD:8554872
RGD:11554173
RGD:7240710
Marfanoid Mental Retardation Syndrome, Autosomal term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AMFR autocrine motility factor receptor JBrowse link 16 56,361,452 56,425,545 RGD:8554872
G APOB apolipoprotein B JBrowse link 2 21,001,429 21,044,073 RGD:8554872
G ARID1A AT-rich interaction domain 1A JBrowse link 1 26,696,015 26,782,104 RGD:8554872
G ARID1B AT-rich interaction domain 1B JBrowse link 6 156,776,026 157,210,779 RGD:8554872
G ASXL3 ASXL transcriptional regulator 3 JBrowse link 18 33,578,219 33,751,195 RGD:8554872
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 1 116,372,986 116,410,259 RGD:8554872
G ATP1A1-AS1 ATP1A1 antisense RNA 1 JBrowse link 1 116,392,865 116,418,622 RGD:8554872
G ATXN2L ataxin 2 like JBrowse link 16 28,823,048 28,837,237 RGD:8554872
G B3GLCT beta 3-glucosyltransferase JBrowse link 13 31,199,975 31,332,276 RGD:8554872
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 5 177,600,102 177,610,330 RGD:8554872
G BCL11A BAF chromatin remodeling complex subunit BCL11A JBrowse link 2 60,450,520 60,553,654 RGD:8554872
G BEGAIN brain enriched guanylate kinase associated JBrowse link 14 100,537,147 100,587,404 RGD:8554872
G CDH5 cadherin 5 JBrowse link 16 66,366,657 66,404,784 RGD:8554872
G CDHR2 cadherin related family member 2 JBrowse link 5 176,542,511 176,595,974 RGD:8554872
G CDK13 cyclin dependent kinase 13 JBrowse link 7 39,949,664 40,099,580 RGD:8554872
G CERS2 ceramide synthase 2 JBrowse link 1 150,965,173 150,975,003 RGD:8554872
G CHD3 chromodomain helicase DNA binding protein 3 JBrowse link 17 7,884,764 7,912,755 RGD:8554872
G CHD8 chromodomain helicase DNA binding protein 8 JBrowse link 14 21,385,199 21,456,123 RGD:8554872
G CIC capicua transcriptional repressor JBrowse link 19 42,268,537 42,295,796 RGD:8554872
G CIT citron rho-interacting serine/threonine kinase JBrowse link 12 119,685,791 119,877,320 RGD:8554872
G CLDN11 claudin 11 JBrowse link 3 170,418,868 170,434,691 RGD:8554872
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase JBrowse link 17 41,966,795 41,977,740 RGD:8554872
G COL6A3 collagen type VI alpha 3 chain JBrowse link 2 237,324,012 237,434,822 RGD:8554872
G CREBBP CREB binding protein JBrowse link 16 3,725,054 3,880,727 RGD:8554872
G DBN1 drebrin 1 JBrowse link 5 177,456,592 177,480,368 RGD:8554872
G DDX3X DEAD-box helicase 3 X-linked JBrowse link X 41,333,308 41,364,472 RGD:8554872
G DDX41 DEAD-box helicase 41 JBrowse link 5 177,511,577 177,516,961 RGD:8554872
G DKK3 dickkopf WNT signaling pathway inhibitor 3 JBrowse link 11 11,962,979 12,009,827 RGD:8554872
G DLG4 discs large MAGUK scaffold protein 4 JBrowse link 17 7,187,180 7,220,050 RGD:8554872
G DOK3 docking protein 3 JBrowse link 5 177,501,904 177,511,267 RGD:8554872
G DSCAML1 DS cell adhesion molecule like 1 JBrowse link 11 117,427,772 117,817,514 RGD:8554872
G DSP desmoplakin JBrowse link 6 7,541,671 7,586,714 RGD:8554872
G EHMT1 euchromatic histone lysine methyltransferase 1 JBrowse link 9 137,619,001 137,836,127 RGD:8554872
G EIF4E1B eukaryotic translation initiation factor 4E family member 1B JBrowse link 5 176,630,675 176,646,644 RGD:8554872
G EMILIN3 elastin microfibril interfacer 3 JBrowse link 20 41,359,962 41,366,818 RGD:8554872
G F12 coagulation factor XII JBrowse link 5 177,402,138 177,409,564 RGD:8554872
G FAF2 Fas associated factor family member 2 JBrowse link 5 176,448,328 176,510,074 RGD:8554872
G FAM193B family with sequence similarity 193 member B JBrowse link 5 177,519,788 177,554,563 RGD:8554872
G FAM83H family with sequence similarity 83 member H JBrowse link 8 143,723,933 143,733,779 RGD:8554872
G FBN2 fibrillin 2 JBrowse link 5 128,257,909 128,538,245 RGD:8554872
G FBXO11 F-box protein 11 JBrowse link 2 47,806,920 47,906,498 RGD:8554872
G FGFR4 fibroblast growth factor receptor 4 JBrowse link 5 177,086,915 177,098,144 RGD:8554872
G FKBP8 FKBP prolyl isomerase 8 JBrowse link 19 18,531,763 18,543,573 RGD:8554872
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 JBrowse link 5 161,847,191 161,899,971 RGD:8554872
G GLT8D2 glycosyltransferase 8 domain containing 2 JBrowse link 12 103,988,983 104,064,177 RGD:8554872
G GPRIN1 G protein regulated inducer of neurite outgrowth 1 JBrowse link 5 176,595,802 176,610,156 RGD:8554872
G GRK6 G protein-coupled receptor kinase 6 JBrowse link 5 177,426,496 177,442,891 RGD:8554872
G HDLBP high density lipoprotein binding protein JBrowse link 2 241,227,264 241,315,842 RGD:8554872
G HK3 hexokinase 3 JBrowse link 5 176,880,869 176,899,373 RGD:8554872
G KCNB1 potassium voltage-gated channel subfamily B member 1 JBrowse link 20 49,363,877 49,484,033 RGD:8554872
G LMAN2 lectin, mannose binding 2 JBrowse link 5 177,331,567 177,351,668 RGD:8554872
G MED13L mediator complex subunit 13L JBrowse link 12 115,958,576 116,277,693 RGD:8554872
G METTL11B methyltransferase like 11B JBrowse link 1 170,145,959 170,168,866 RGD:8554872
G MTREX Mtr4 exosome RNA helicase JBrowse link 5 55,307,989 55,425,579 RGD:8554872
G MXD3 MAX dimerization protein 3 JBrowse link 5 177,305,499 177,311,898 RGD:8554872
G NEU3 neuraminidase 3 JBrowse link 11 74,988,644 75,010,907 RGD:8554872
G NF2 neurofibromin 2 JBrowse link 22 29,603,556 29,698,600 RGD:8554872
G NFIB nuclear factor I B JBrowse link 9 14,081,843 14,532,077 RGD:8554872
G NFIX nuclear factor I X JBrowse link 19 12,995,475 13,098,796 RGD:8554872
G NSD1 nuclear receptor binding SET domain protein 1 JBrowse link 5 177,131,835 177,300,213 RGD:8554872
G NUP205 nucleoporin 205 JBrowse link 7 135,557,917 135,648,753 RGD:8554872
G PAH phenylalanine hydroxylase JBrowse link 12 102,836,889 102,958,441 RGD:8554872
G PDLIM7 PDZ and LIM domain 7 JBrowse link 5 177,483,394 177,497,605 RGD:8554872
G PFN3 profilin 3 JBrowse link 5 177,400,109 177,400,661 RGD:8554872
G PICALM phosphatidylinositol binding clathrin assembly protein JBrowse link 11 85,957,175 86,069,860 RGD:8554872
G PKD1L2 polycystin 1 like 2 (gene/pseudogene) JBrowse link 16 81,100,875 81,220,394 RGD:8554872
G PNPLA6 patatin like phospholipase domain containing 6 JBrowse link 19 7,534,164 7,561,767 RGD:8554872
G PRELID1 PRELI domain containing 1 JBrowse link 5 177,303,799 177,306,949 RGD:8554872
G PRR7 proline rich 7, synaptic JBrowse link 5 177,445,995 177,456,701 RGD:8554872
G RAB24 RAB24, member RAS oncogene family JBrowse link 5 177,301,190 177,303,744 RGD:8554872
G RALGAPB Ral GTPase activating protein non-catalytic subunit beta JBrowse link 20 38,472,820 38,578,861 RGD:8554872
G RANBP10 RAN binding protein 10 JBrowse link 16 67,723,068 67,806,560 RGD:8554872
G RGS14 regulator of G protein signaling 14 JBrowse link 5 177,357,672 177,372,601 RGD:8554872
G RNF44 ring finger protein 44 JBrowse link 5 176,526,704 176,544,206 RGD:8554872
G SATB1 SATB homeobox 1 JBrowse link 3 18,345,377 18,445,592 RGD:8554872
G SCN2A sodium voltage-gated channel alpha subunit 2 JBrowse link 2 165,208,056 165,392,310 RGD:8554872
G SIDT1 SID1 transmembrane family member 1 JBrowse link 3 113,532,296 113,629,579 RGD:8554872
G SLC34A1 solute carrier family 34 member 1 JBrowse link 5 177,384,434 177,412,021 RGD:8554872
G SLC6A1 solute carrier family 6 member 1 JBrowse link 3 10,992,734 11,039,249 RGD:8554872
G SNCB synuclein beta JBrowse link 5 176,620,082 176,630,561 RGD:8554872
G SPAG9 sperm associated antigen 9 JBrowse link 17 50,962,174 51,120,868 RGD:8554872
G STK11 serine/threonine kinase 11 JBrowse link 19 1,205,778 1,228,431 RGD:8554872
G SYNGAP1 synaptic Ras GTPase activating protein 1 JBrowse link 6 33,420,065 33,453,689 RGD:8554872
G TAF1 TATA-box binding protein associated factor 1 JBrowse link X 71,366,220 71,530,525 RGD:8554872
G TAPBPL TAP binding protein like JBrowse link 12 6,451,656 6,472,006 RGD:8554872
G TBR1 T-box brain transcription factor 1 JBrowse link 2 161,416,297 161,425,870 RGD:8554872
G TMED9 transmembrane p24 trafficking protein 9 JBrowse link 5 177,592,203 177,597,242 RGD:8554872
G TPCN2 two pore segment channel 2 JBrowse link 11 69,048,932 69,090,597 RGD:8554872
G TSPAN17 tetraspanin 17 JBrowse link 5 176,647,484 176,659,051 RGD:8554872
G UIMC1 ubiquitin interaction motif containing 1 JBrowse link 5 176,905,005 177,022,640 RGD:8554872
G UNC5A unc-5 netrin receptor A JBrowse link 5 176,810,559 176,880,898 RGD:8554872
G WSCD2 WSC domain containing 2 JBrowse link 12 108,129,288 108,250,537 RGD:8554872
G ZBTB18 zinc finger and BTB domain containing 18 JBrowse link 1 244,048,939 244,057,476 RGD:8554872
G ZBTB20 zinc finger and BTB domain containing 20 JBrowse link 3 114,314,500 115,147,288 RGD:8554872
G ZBTB46 zinc finger and BTB domain containing 46 JBrowse link 20 63,743,670 63,832,332 RGD:8554872
G ZEB2 zinc finger E-box binding homeobox 2 JBrowse link 2 144,384,081 144,520,119 RGD:8554872
G ZNF346 zinc finger protein 346 JBrowse link 5 177,022,680 177,081,189 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 13L JBrowse link 12 115,958,576 116,277,693 RGD:8554872
RGD:7240710
G MIR620 microRNA 620 JBrowse link 12 116,148,560 116,148,654 RGD:8554872
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 13 76,992,597 77,027,164 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 6 45,328,317 45,551,082 RGD:7240710
RGD:8554872
G SUPT3H SPT3 homolog, SAGA and STAGA complex component JBrowse link 6 44,809,057 45,378,051 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 10 92,593,130 92,655,395 RGD:8554872
RGD:7240710
Mowat-Wilson syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GTDC1 glycosyltransferase like domain containing 1 JBrowse link 2 143,944,414 144,333,069 RGD:8554872
G LINC01412 long intergenic non-protein coding RNA 1412 JBrowse link 2 144,521,868 144,579,434 RGD:8554872
G TEX41 testis expressed 41 JBrowse link 2 144,667,967 145,076,729 RGD:8554872
G ZEB2 zinc finger E-box binding homeobox 2 JBrowse link 2 144,384,081 144,520,119 RGD:8554872
RGD:11554173
RGD:7240710
G ZEB2-AS1 ZEB2 antisense RNA 1 JBrowse link 2 144,519,614 144,520,899 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 17 49,598,884 49,678,163 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 17 49,598,884 49,678,163 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 7 1,470,277 1,504,389 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 17 7,834,210 7,854,796 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 10 79,068,966 79,316,519 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 17 82,031,678 82,034,204 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 6 156,776,026 157,210,779 RGD:8554872
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 18,425,605 18,653,629 RGD:8554872
G RS1 retinoschisin 1 JBrowse link X 18,639,688 18,672,108 RGD:8554872
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 9 2,015,347 2,193,624 RGD:8554872
RGD:11554173
RGD:7240710
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 11 17,086,575 17,207,986 RGD:7240710
RGD:8554872
oligomeganephronia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCL2 BCL2 apoptosis regulator JBrowse link 18 63,123,346 63,320,280 RGD:13592920
Omodysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPC6 glypican 6 JBrowse link 13 93,226,807 94,408,020 RGD:8554872
RGD:11554173
RGD:7240710
G GPC6-AS2 GPC6 antisense RNA 2 JBrowse link 13 93,818,424 93,858,473 RGD:8554872
Omodysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FZD2 frizzled class receptor 2 JBrowse link 17 44,557,484 44,561,262 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 10 133,278,630 133,312,337 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 10 23,192,312 23,194,245 RGD:8554872
RGD:11554173
RGD:7240710
Pierpont syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBL1XR1 TBL1X receptor 1 JBrowse link 3 177,019,344 177,197,482 RGD:8554872
RGD:7240710
renal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DDX54 DEAD-box helicase 54 JBrowse link 12 113,157,173 113,185,478 RGD:8554872
G EYA1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 8 71,197,433 71,548,104 RGD:8554872
G KAT6B lysine acetyltransferase 6B JBrowse link 10 74,824,927 75,032,624 RGD:8554872
Seckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATR ATR serine/threonine kinase JBrowse link 3 142,449,235 142,578,793 RGD:10053614
RGD:8554872
RGD:7240710
G CENPJ centromere protein J JBrowse link 13 24,882,279 24,922,889 RGD:8554872
G CEP152 centrosomal protein 152 JBrowse link 15 48,662,534 48,811,904 RGD:11554173
G PCNT pericentrin JBrowse link 21 46,324,122 46,445,769 RGD:11554173
Severe Growth Restriction with Distinctive Facies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G IGF2 insulin like growth factor 2 JBrowse link 11 2,129,112 2,149,603 RGD:8554872
RGD:7240710
G INS-IGF2 INS-IGF2 readthrough JBrowse link 11 2,129,117 2,161,209 RGD:8554872
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 2 46,617,215 46,630,176 RGD:8554872
RGD:7240710
G PIGF phosphatidylinositol glycan anchor biosynthesis class F JBrowse link 2 46,580,937 46,617,057 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 9 130,693,760 130,704,894 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 3 52,075,226 52,154,423 RGD:8554872
RGD:7240710
Snijders Blok-Campeau Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CHD3 chromodomain helicase DNA binding protein 3 JBrowse link 17 7,884,764 7,912,755 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 77,504,878 77,786,235 RGD:8554872
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link X 53,532,096 53,686,723 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 6 31,952,087 31,959,043 RGD:8554872
G SKIV2L Ski2 like RNA helicase JBrowse link 6 31,959,157 31,969,852 RGD:11554173
RGD:8554872
G TTC37 tetratricopeptide repeat domain 37 JBrowse link 5 95,463,894 95,554,980 RGD:11554173
RGD:8554872
trichohepatoenteric syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGK acylglycerol kinase JBrowse link 7 141,551,410 141,662,153 RGD:8554872
G TTC37 tetratricopeptide repeat domain 37 JBrowse link 5 95,463,894 95,554,980 RGD:8554872
RGD:7240710
trichohepatoenteric syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SKIV2L Ski2 like RNA helicase JBrowse link 6 31,959,157 31,969,852 RGD:8554872
RGD:7240710
trichorhinophalangeal syndrome type III term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TRPS1 transcriptional repressor GATA binding 1 JBrowse link 8 115,408,496 115,668,975 RGD:8554872
RGD:7240710
Turnpenny-Fry Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PCGF2 polycomb group ring finger 2 JBrowse link 17 38,733,898 38,749,817 RGD:7240710
RGD:8554872
urofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPSE2 heparanase 2 (inactive) JBrowse link 10 98,457,077 99,235,875 RGD:11554173
G LRIG2 leucine rich repeats and immunoglobulin like domains 2 JBrowse link 1 113,073,170 113,132,260 RGD:11554173
Urofacial Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPSE2 heparanase 2 (inactive) JBrowse link 10 98,457,077 99,235,875 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 1 113,073,170 113,132,260 RGD:8554872
RGD:7240710
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 136,146,702 136,211,359 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 8 143,816,344 143,829,315 RGD:8554872
RGD:7240710
VERVERI-BRADY SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G QRICH1 glutamine rich 1 JBrowse link 3 49,029,707 49,094,373 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16990
    Pathological Conditions, Signs and Symptoms 8912
      Pathologic Processes 5679
        Disease Attributes 566
          Facies 255
            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 17
            C syndrome 1
            CHOPS Syndrome 1
            Cerebellofaciodental Syndrome 1
            Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type 0
            Chondrodysplasia, Megarbane-Dagher-Melki Type 2
            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 + 2
            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 97
            McDonough Syndrome 0
            McPherson Clemens Syndrome 0
            Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 2
            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 5
            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 2
            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.