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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 NW_004955513 2,849,310 2,879,130 RGD:9068941
G Aff4 AF4/FMR2 family member 4 JBrowse link NW_004955408 4,247,730 4,305,194 RGD:9068941
G Ccbe1 collagen and calcium binding EGF domains 1 JBrowse link NW_004955402 43,551,810 43,819,731 RGD:9068941
G Chd8 chromodomain helicase DNA binding protein 8 JBrowse link NW_004955550 2,115,649 2,175,687 RGD:9068941
G Dnmt3a DNA methyltransferase 3 alpha JBrowse link NW_004955469 7,264,431 7,367,059 RGD:9068941
G Fmr1 FMRP translational regulator 1 JBrowse link NW_004955498 566,741 594,837 RGD:9068941
G Jag1 jagged canonical Notch ligand 1 JBrowse link NW_004955415 20,490,414 20,526,068 RGD:9068941
G Msl3 MSL complex subunit 3 JBrowse link NW_004955544 1,523,369 1,541,012 RGD:9068941
G Tbce tubulin folding cofactor E JBrowse link NW_004955492 4,502,705 4,573,126 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 NW_004955453 5,132,776 5,272,250 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 NW_004955487 2,678,961 2,680,869 RGD:7240710
RGD:9068941
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hmgn2 high mobility group nucleosomal binding domain 2 JBrowse link NW_004955452 5,846,085 5,849,996 RGD:9068941
G Pax6 paired box 6 JBrowse link NW_004955476 10,058,979 10,074,668 RGD:9068941
G Pitx2 paired like homeodomain 2 JBrowse link NW_004955457 15,803,493 15,823,193 RGD:7240710
RGD:9068941
G Prdm5 PR/SET domain 5 JBrowse link NW_004955428 19,684,721 19,881,716 RGD:9068941
Ayme-Gripp syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Maf MAF bZIP transcription factor JBrowse link NW_004955522 2,514,313 2,519,694 RGD:7240710
RGD:9068941
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin beta JBrowse link NW_004955460 10,358,100 10,361,585 RGD:9068941
G Actg1 actin gamma 1 JBrowse link NW_004955506 1,546,678 1,549,611 RGD:9068941
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Actb actin beta JBrowse link NW_004955460 10,358,100 10,361,585 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 NW_004955506 1,546,678 1,549,611 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 NW_004955442 14,314,100 14,317,726 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 NW_004955437 17,002,269 17,037,750 RGD:9068941
Boomerang dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flnb filamin B JBrowse link NW_004955430 7,680,394 7,832,124 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 NW_004955418 28,106,333 28,108,276 RGD:7240710
RGD:9068941
Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adnp2 ADNP homeobox 2 JBrowse link NW_004955402 63,312,588 63,346,307 RGD:9068941
G Atp9b ATPase phospholipid transporting 9B (putative) JBrowse link NW_004955402 62,231,875 62,537,311 RGD:9068941
G Ctdp1 CTD phosphatase subunit 1 JBrowse link NW_004955402 62,817,822 62,914,250 RGD:9068941
G Galr1 galanin receptor 1 JBrowse link NW_004955402 60,449,660 60,559,549 RGD:9068941
G Kcng2 potassium voltage-gated channel modifier subfamily G member 2 JBrowse link NW_004955402 62,997,807 63,033,813 RGD:9068941
G Mbp myelin basic protein JBrowse link NW_004955402 60,324,060 60,448,926 RGD:9068941
G Nfatc1 nuclear factor of activated T cells 1 JBrowse link NW_004955402 62,558,392 62,674,347 RGD:9068941
G Pard6g par-6 family cell polarity regulator gamma JBrowse link NW_004955402 63,374,837 63,459,327 RGD:9068941
G Rbfa ribosome binding factor A JBrowse link NW_004955402 63,213,097 63,224,252 RGD:9068941
G Sall3 spalt like transcription factor 3 JBrowse link NW_004955402 62,157,988 62,163,977 RGD:9068941
G Slc66a2 solute carrier family 66 member 2 JBrowse link NW_004955402 63,035,932 63,073,981 RGD:9068941
G Txnl4a thioredoxin like 4A JBrowse link NW_004955402 63,153,274 63,166,208 RGD:7240710
RGD:9068941
G Znf236 zinc finger protein 236 JBrowse link NW_004955402 60,185,687 60,315,589 RGD:9068941
G Znf516 zinc finger protein 516 JBrowse link NW_004955402 59,750,682 59,874,987 RGD:9068941
C syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cd96 CD96 molecule JBrowse link NW_004955427 11,971,051 12,057,185 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 NW_004955494 2,567,238 2,712,708 RGD:9068941
G Hras HRas proto-oncogene, GTPase JBrowse link NW_004955476 11,508,446 11,510,333 RGD:9068941
G Kras KRAS proto-oncogene, GTPase JBrowse link NW_004955413 20,298,852 20,328,756 RGD:9068941
G Map2k1 mitogen-activated protein kinase kinase 1 JBrowse link NW_004955450 9,181,851 9,205,277 RGD:9068941
G Map2k2 mitogen-activated protein kinase kinase 2 JBrowse link NW_004955495 4,695,239 4,718,380 RGD:9068941
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 JBrowse link NW_004955482 8,934,734 9,031,230 RGD:9068941
G Snapc5 small nuclear RNA activating complex polypeptide 5 JBrowse link NW_004955450 9,176,462 9,197,592 RGD:9068941
G Tipin TIMELESS interacting protein JBrowse link NW_004955450 9,259,838 9,279,479 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 NW_004955494 2,567,238 2,712,708 RGD:7240710
RGD:9068941
G Kras KRAS proto-oncogene, GTPase JBrowse link NW_004955413 20,298,852 20,328,756 RGD:9068941
G Map2k2 mitogen-activated protein kinase kinase 2 JBrowse link NW_004955495 4,695,239 4,718,380 RGD:9068941
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kras KRAS proto-oncogene, GTPase JBrowse link NW_004955413 20,298,852 20,328,756 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 NW_004955450 9,181,851 9,205,277 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 NW_004955495 4,695,239 4,718,380 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 JBrowse link NW_004955538 3,469,322 3,544,704 RGD:7240710
RGD:9068941
Chondrodysplasia, Megarbane-Dagher-Melki Type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pam16 presequence translocase associated motor 16 JBrowse link NW_004955442 13,087,082 13,097,048 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 NW_004955408 4,247,730 4,305,194 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 NW_004955481 7,111,760 7,122,800 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 NW_004955452 3,044,042 3,104,650 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 NW_004955452 6,068,631 6,120,759 RGD:9068941
G Arid1b AT-rich interaction domain 1B JBrowse link NW_004955439 5,041,111 5,454,692 RGD:9068941
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link NW_004955434 6,420,850 6,592,797 RGD:9068941
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link NW_004955495 2,021,671 2,105,155 RGD:9068941
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link NW_004955455 8,420,263 8,457,105 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 NW_004955452 6,068,631 6,120,759 RGD:9068941
G Arid1b AT-rich interaction domain 1B JBrowse link NW_004955439 5,041,111 5,454,692 RGD:7240710
RGD:9068941
G Dpf2 double PHD fingers 2 JBrowse link NW_004955422 19,894,502 19,910,989 RGD:9068941
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link NW_004955434 6,420,850 6,592,797 RGD:9068941
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link NW_004955495 2,021,671 2,105,155 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 NW_004955483 5,076,664 5,077,059 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 NW_004955547 659,919 673,637 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 NW_004955452 6,068,631 6,120,759 RGD:9068941
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 NW_004955455 8,420,263 8,457,105 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 NW_004955495 2,021,671 2,105,155 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 NW_004955451 15,129,619 15,147,487 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 NW_004955500 4,998,555 5,177,180 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 NW_004955422 19,894,502 19,910,989 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 NW_004955458 3,764,823 3,787,159 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 NW_004955422 18,097,779 18,108,628 RGD:9068941
G Crlf1 cytokine receptor like factor 1 JBrowse link NW_004955524 2,998,258 3,003,553 RGD:9068941
G Klhl7 kelch like family member 7 JBrowse link NW_004955410 25,406,775 25,477,552 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 NW_004955524 2,998,258 3,003,553 RGD:7240710
RGD:9068941
G Klhl7 kelch like family member 7 JBrowse link NW_004955410 25,406,775 25,477,552 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 NW_004955422 18,097,779 18,108,628 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 NW_004955410 25,406,775 25,477,552 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 NW_004955406 19,481,640 19,658,807 RGD:9068941
G Hesx1 HESX homeobox 1 JBrowse link NW_004955430 6,955,575 6,956,991 RGD:9068941
G Lhx3 LIM homeobox 3 JBrowse link NW_004955513 4,464,149 4,470,962 RGD:9068941
G Lhx4 LIM homeobox 4 JBrowse link NW_004955406 19,457,658 19,470,875 RGD:9068941
G Pou1f1 POU class 1 homeobox 1 JBrowse link NW_004955407 5,996,016 6,011,483 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 NW_004955460 3,590,854 3,701,148 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 NW_004955435 7,352,617 7,545,235 RGD:9068941
G Col11a2 collagen type XI alpha 2 chain JBrowse link NW_004955437 1,739,426 1,767,087 RGD:9068941
Fibrochondrogenesis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a1 collagen type XI alpha 1 chain JBrowse link NW_004955435 7,352,617 7,545,235 RGD:7240710
RGD:9068941
G Col11a2 collagen type XI alpha 2 chain JBrowse link NW_004955437 1,739,426 1,767,087 RGD:9068941
Fibrochondrogenesis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Col11a2 collagen type XI alpha 2 chain JBrowse link NW_004955437 1,739,426 1,767,087 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 NW_004955470 1,552,279 1,581,261 RGD:7240710
RGD:9068941
geleophysic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS like 2 JBrowse link NW_004955513 2,849,310 2,879,130 RGD:9068941
G Fbn1 fibrillin 1 JBrowse link NW_004955409 5,281,603 5,502,547 RGD:9068941
geleophysic dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Adamtsl2 ADAMTS like 2 JBrowse link NW_004955513 2,849,310 2,879,130 RGD:7240710
RGD:9068941
geleophysic dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbn1 fibrillin 1 JBrowse link NW_004955409 5,281,603 5,502,547 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 NW_004955422 19,714,161 19,730,344 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 NW_004955427 24,294,926 24,430,697 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 NW_004955409 25,920,973 25,943,985 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 NW_004955412 19,586,435 19,670,149 RGD:7240710
RGD:9068941
G Smc1a structural maintenance of chromosomes 1A JBrowse link NW_004955475 421,472 468,286 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 NW_004955402 35,956,080 36,001,746 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 NW_004955433 11,424,069 11,834,955 RGD:7240710
RGD:9068941
G Rpgrip1l RPGRIP1 like JBrowse link NW_004955433 11,321,504 11,423,981 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 NW_004955406 40,922,972 40,971,433 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 NW_004955404 9,603,567 9,894,688 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 NW_004955457 5,445,255 5,649,286 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 NW_004955496 3,108,113 3,288,141 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 NW_004955553 2,305,425 2,353,596 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 NW_004955441 14,471,283 14,495,508 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 NW_004955561 1,260,237 1,275,953 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 NW_004955417 7,844,311 7,859,032 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 NW_004955438 20,826,818 20,850,496 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 NW_004955412 19,854,785 19,889,422 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 NW_004955405 10,451,414 10,547,229 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 NW_004955604 109,522 122,001 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 NW_004955438 20,562,345 20,637,662 RGD:7240710
RGD:9068941
Kahrizi syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Srd5a3 steroid 5 alpha-reductase 3 JBrowse link NW_004955447 15,578,661 15,588,218 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 NW_004955455 8,982,293 9,032,609 RGD:7240710
RGD:9068941
KBG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd11 ankyrin repeat domain 11 JBrowse link NW_004955541 2,921,230 3,033,612 RGD:7240710
RGD:9068941
G Trappc2l trafficking protein particle complex 2 like JBrowse link NW_004955541 2,711,051 2,715,458 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 NW_004955407 36,670,824 36,923,960 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 NW_004955599 573,982 578,032 RGD:7240710
RGD:9068941
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link NW_004955408 29,837,982 29,847,891 RGD:9068941
G Chst3 carbohydrate sulfotransferase 3 JBrowse link NW_004955437 19,563,645 19,605,747 RGD:9068941
G Col11a2 collagen type XI alpha 2 chain JBrowse link NW_004955437 1,739,426 1,767,087 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 NW_004955416 15,555,959 15,570,925 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 NW_004955454 3,584,910 4,036,276 RGD:9068941
G Herc1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link NW_004955450 11,525,245 11,719,992 RGD:7240710
RGD:9068941
macrocephaly-autism syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pten phosphatase and tensin homolog JBrowse link NW_004955425 5,007,811 5,091,829 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 NW_004955433 14,172,871 14,205,484 RGD:9068941
G Apob apolipoprotein B JBrowse link NW_004955469 3,437,422 3,478,408 RGD:9068941
G Arid1a AT-rich interaction domain 1A JBrowse link NW_004955452 6,068,631 6,120,759 RGD:9068941
G Arid1b AT-rich interaction domain 1B JBrowse link NW_004955439 5,041,111 5,454,692 RGD:9068941
G Asxl3 ASXL transcriptional regulator 3 JBrowse link NW_004955402 20,571,209 20,704,480 RGD:9068941
G Atp1a1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link NW_004955435 19,537,224 19,563,631 RGD:9068941
G Atxn2l ataxin 2 like JBrowse link NW_004955493 6,626,106 6,637,678 RGD:9068941
G B3glct beta 3-glucosyltransferase JBrowse link NW_004955431 14,507,184 14,621,376 RGD:9068941
G B4galt7 beta-1,4-galactosyltransferase 7 JBrowse link NW_004955408 29,837,982 29,847,891 RGD:9068941
G Bcl11a BAF chromatin remodeling complex subunit BCL11A JBrowse link NW_004955424 23,233,523 23,330,679 RGD:9068941
G Begain brain enriched guanylate kinase associated JBrowse link NW_004955438 21,572,080 21,580,311 RGD:9068941
G Cdh5 cadherin 5 JBrowse link NW_004955433 22,957,718 22,994,515 RGD:9068941
G Cdhr2 cadherin related family member 2 JBrowse link NW_004955408 28,832,362 28,871,345 RGD:9068941
G Cdk13 cyclin dependent kinase 13 JBrowse link NW_004955460 3,590,854 3,701,148 RGD:9068941
G Cers2 ceramide synthase 2 JBrowse link NW_004955588 338,381 342,139 RGD:9068941
G Chd3 chromodomain helicase DNA binding protein 3 JBrowse link NW_004955467 9,024,112 9,050,062 RGD:9068941
G Chd8 chromodomain helicase DNA binding protein 8 JBrowse link NW_004955550 2,115,649 2,175,687 RGD:9068941
G Cic capicua transcriptional repressor JBrowse link NW_004955555 613,549 641,587 RGD:9068941
G Cit citron rho-interacting serine/threonine kinase JBrowse link NW_004955455 11,705,015 11,871,762 RGD:9068941
G Cldn11 claudin 11 JBrowse link NW_004955420 580,588 595,052 RGD:9068941
G Cnp 2',3'-cyclic nucleotide 3' phosphodiesterase JBrowse link NW_004955451 16,115,137 16,119,261 RGD:9068941
G Col6a3 collagen type VI alpha 3 chain JBrowse link NW_004955542 2,869,183 2,950,569 RGD:9068941
G Crebbp CREB binding protein JBrowse link NW_004955442 13,559,496 13,691,913 RGD:9068941
G Dbn1 drebrin 1 JBrowse link NW_004955408 29,695,442 29,705,417 RGD:9068941
G Ddx3x DEAD-box helicase 3 X-linked JBrowse link NW_004955565 1,387,043 1,403,624 RGD:9068941
G Ddx41 DEAD-box helicase 41 JBrowse link NW_004955408 29,748,091 29,753,610 RGD:9068941
G Dkk3 dickkopf WNT signaling pathway inhibitor 3 JBrowse link NW_004955414 27,466,636 27,507,186 RGD:9068941
G Dlg4 discs large MAGUK scaffold protein 4 JBrowse link NW_004955467 9,691,733 9,715,872 RGD:9068941
G Dok3 docking protein 3 JBrowse link NW_004955408 29,740,606 29,747,986 RGD:9068941
G Dscaml1 DS cell adhesion molecule like 1 JBrowse link NW_004955412 18,708,444 19,022,538 RGD:9068941
G Dsp desmoplakin JBrowse link NW_004955465 6,356,970 6,391,206 RGD:9068941
G Ehmt1 euchromatic histone lysine methyltransferase 1 JBrowse link NW_004955513 5,491,446 5,642,559 RGD:9068941
G Eif4e1b eukaryotic translation initiation factor 4E family member 1B JBrowse link NW_004955408 28,910,141 28,913,692 RGD:9068941
G Emilin3 elastin microfibril interfacer 3 JBrowse link NW_004955445 15,590,996 15,599,813 RGD:9068941
G F12 coagulation factor XII JBrowse link NW_004955408 29,644,279 29,665,161 RGD:9068941
G Faf2 Fas associated factor family member 2 JBrowse link NW_004955408 28,737,597 28,797,143 RGD:9068941
G Fam193b family with sequence similarity 193 member B JBrowse link NW_004955408 29,756,057 29,788,349 RGD:9068941
G Fam83h family with sequence similarity 83 member H JBrowse link NW_004955454 2,421,393 2,436,012 RGD:9068941
G Fbn2 fibrillin 2 JBrowse link NW_004955415 1,307,553 1,535,435 RGD:9068941
G Fbxo11 F-box protein 11 JBrowse link NW_004955441 14,471,283 14,495,508 RGD:9068941
G Fgfr4 fibroblast growth factor receptor 4 JBrowse link NW_004955408 29,370,480 29,383,531 RGD:9068941
G Fkbp8 FKBP prolyl isomerase 8 JBrowse link NW_004955524 3,037,825 3,044,296 RGD:9068941
G Gabra1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link NW_004955408 15,608,984 15,662,309 RGD:9068941
G Glt8d2 glycosyltransferase 8 domain containing 2 JBrowse link NW_004955405 38,680,302 38,708,383 RGD:9068941
G Gprin1 G protein regulated inducer of neurite outgrowth 1 JBrowse link NW_004955408 28,871,379 28,884,961 RGD:9068941
G Grk6 G protein-coupled receptor kinase 6 JBrowse link NW_004955408 29,665,534 29,684,225 RGD:9068941
G Hdlbp high density lipoprotein binding protein JBrowse link NW_004955542 444,221 505,512 RGD:9068941
G Hk3 hexokinase 3 JBrowse link NW_004955408 29,132,717 29,149,030 RGD:9068941
G Kcnb1 potassium voltage-gated channel subfamily B member 1 JBrowse link NW_004955445 8,680,979 8,779,662 RGD:9068941
G Lman2 lectin, mannose binding 2 JBrowse link NW_004955408 29,581,737 29,597,240 RGD:9068941
G Med13l mediator complex subunit 13L JBrowse link NW_004955455 14,679,416 14,960,226 RGD:9068941
G Mettl11b methyltransferase like 11B JBrowse link NW_004955462 6,450,063 6,473,919 RGD:9068941
G Mtrex Mtr4 exosome RNA helicase JBrowse link NW_004955446 12,270,338 12,362,064 RGD:9068941
G Mxd3 MAX dimerization protein 3 JBrowse link NW_004955408 29,555,028 29,560,589 RGD:9068941
G Neu3 neuraminidase 3 JBrowse link NW_004955414 16,783,996 16,798,368 RGD:9068941
G Nf2 neurofibromin 2 JBrowse link NW_004955455 3,862,804 3,950,669 RGD:9068941
G Nfib nuclear factor I B JBrowse link NW_004955434 17,192,188 17,603,503 RGD:9068941
G Nfix nuclear factor I X JBrowse link NW_004955415 32,055,926 32,121,611 RGD:9068941
G Nsd1 nuclear receptor binding SET domain protein 1 JBrowse link NW_004955408 29,416,393 29,547,444 RGD:9068941
G Nup205 nucleoporin 205 JBrowse link NW_004955494 7,084,150 7,148,264 RGD:9068941
G Pah phenylalanine hydroxylase JBrowse link NW_004955405 37,848,486 37,909,163 RGD:9068941
G Pdlim7 PDZ and LIM domain 7 JBrowse link NW_004955408 29,718,830 29,734,085 RGD:9068941
G Pfn3 profilin 3 JBrowse link NW_004955408 29,642,186 29,642,993 RGD:9068941
G Picalm phosphatidylinositol binding clathrin assembly protein JBrowse link NW_004955414 6,871,220 6,970,569 RGD:9068941
G Pkd1l2 polycystin 1 like 2 JBrowse link NW_004955522 3,877,806 3,963,197 RGD:9068941
G Pnpla6 patatin like phospholipase domain containing 6 JBrowse link NW_004955563 1,681,112 1,703,287 RGD:9068941
G Prelid1 PRELI domain containing 1 JBrowse link NW_004955408 29,551,253 29,554,778 RGD:9068941
G Prr7 proline rich 7, synaptic JBrowse link NW_004955408 29,685,254 29,695,113 RGD:9068941
G Rab24 RAB24, member RAS oncogene family JBrowse link NW_004955408 29,548,839 29,551,184 RGD:9068941
G Ralgapb Ral GTPase activating protein non-catalytic beta subunit JBrowse link NW_004955445 18,146,316 18,241,128 RGD:9068941
G Ranbp10 RAN binding protein 10 JBrowse link NW_004955484 8,889,349 8,960,122 RGD:9068941
G Rgs14 regulator of G protein signaling 14 JBrowse link NW_004955408 29,602,654 29,616,793 RGD:9068941
G Rnf44 ring finger protein 44 JBrowse link NW_004955408 28,809,383 28,826,587 RGD:9068941
G Satb1 SATB homeobox 1 JBrowse link NW_004955430 10,587,539 10,683,887 RGD:9068941
G Scn2a sodium voltage-gated channel alpha subunit 2 JBrowse link NW_004955449 8,722,043 8,846,165 RGD:9068941
G Sidt1 SID1 transmembrane family member 1 JBrowse link NW_004955427 13,649,216 13,747,983 RGD:9068941
G Slc34a1 solute carrier family 34 member 1 JBrowse link NW_004955408 29,626,775 29,640,811 RGD:9068941
G Slc6a1 solute carrier family 6 member 1 JBrowse link NW_004955429 13,930,899 13,946,010 RGD:9068941
G Sncb synuclein beta JBrowse link NW_004955408 28,894,204 28,903,095 RGD:9068941
G Spag9 sperm associated antigen 9 JBrowse link NW_004955451 10,800,251 10,895,400 RGD:9068941
G Stk11 serine/threonine kinase 11 JBrowse link NW_004955495 6,678,195 6,699,408 RGD:9068941
G Syngap1 synaptic Ras GTPase activating protein 1 JBrowse link NW_004955437 1,950,559 1,981,004 RGD:9068941
G Taf1 TATA-box binding protein associated factor 1 JBrowse link NW_004955475 10,930,175 11,006,876 RGD:9068941
G Tapbpl TAP binding protein like JBrowse link NW_004955413 4,108,044 4,116,413 RGD:9068941
G Tbr1 T-box brain transcription factor 1 JBrowse link NW_004955449 12,293,534 12,301,440 RGD:9068941
G Tmed9 transmembrane p24 trafficking protein 9 JBrowse link NW_004955408 29,830,125 29,834,408 RGD:9068941
G Tpcn2 two pore segment channel 2 JBrowse link NW_004955422 16,899,730 16,923,962 RGD:9068941
G Tspan17 tetraspanin 17 JBrowse link NW_004955408 28,914,392 28,924,352 RGD:9068941
G Uimc1 ubiquitin interaction motif containing 1 JBrowse link NW_004955408 29,154,373 29,274,817 RGD:9068941
G Unc5a unc-5 netrin receptor A JBrowse link NW_004955408 29,071,812 29,132,744 RGD:9068941
G Wscd2 WSC domain containing 2 JBrowse link NW_004955455 9,433,628 9,549,862 RGD:9068941
G Zbtb18 zinc finger and BTB domain containing 18 JBrowse link NW_004955406 7,364,080 7,372,038 RGD:9068941
G Zbtb20 zinc finger and BTB domain containing 20 JBrowse link NW_004955427 14,409,700 15,231,495 RGD:9068941
G Zbtb46 zinc finger and BTB domain containing 46 JBrowse link NW_004955528 438,826 485,484 RGD:9068941
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link NW_004955440 10,755,658 10,881,044 RGD:9068941
G Znf346 zinc finger protein 346 JBrowse link NW_004955408 29,312,273 29,346,983 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 NW_004955455 14,679,416 14,960,226 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 NW_004955404 30,215,140 30,229,798 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 NW_004955437 10,598,145 10,885,858 RGD:7240710
RGD:9068941
G Supt3h SPT3 homolog, SAGA and STAGA complex component JBrowse link NW_004955437 10,207,802 10,649,559 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 NW_004955425 764,382 804,856 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 NW_004955440 10,334,584 10,702,436 RGD:9068941
G Zeb2 zinc finger E-box binding homeobox 2 JBrowse link NW_004955440 10,755,658 10,881,044 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 NW_004955451 11,897,642 11,970,269 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 NW_004955451 11,897,642 11,970,269 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 NW_004955460 9,116,650 9,149,470 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 NW_004955467 9,085,239 9,106,658 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 NW_004955437 13,338,077 13,534,283 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 NW_004955506 1,139,098 1,142,443 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 NW_004955439 5,041,111 5,454,692 RGD:9068941
G Cdkl5 cyclin dependent kinase like 5 JBrowse link NW_004955586 791,886 997,713 RGD:9068941
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link NW_004955434 6,420,850 6,592,797 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 NW_004955414 31,896,161 31,999,730 RGD:7240710
RGD:9068941
oligomeganephronia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bcl2 BCL2 apoptosis regulator JBrowse link NW_004955402 46,911,125 47,084,214 RGD:9068941
Omodysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gpc6 glypican 6 JBrowse link NW_004955404 15,429,811 16,504,973 RGD:7240710
RGD:9068941
Omodysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fzd2 frizzled class receptor 2 JBrowse link NW_004955451 17,501,410 17,503,726 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 NW_004955477 10,909,213 10,932,833 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 NW_004955429 5,807,804 5,809,522 RGD:7240710
RGD:9068941
Pierpont syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbl1xr1 TBL1X receptor 1 JBrowse link NW_004955420 6,546,529 6,705,481 RGD:7240710
RGD:9068941
renal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddx54 DEAD-box helicase 54 JBrowse link NW_004955482 9,493,840 9,509,916 RGD:9068941
G Eya1 EYA transcriptional coactivator and phosphatase 1 JBrowse link NW_004955444 8,336,071 8,655,041 RGD:9068941
Seckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atr ATR serine/threonine kinase JBrowse link NW_004955508 3,337,036 3,440,313 RGD:7240710
RGD:9068941
G Cenpj centromere protein J JBrowse link NW_004955497 432,595 497,335 RGD:9068941
G Cep152 centrosomal protein 152 JBrowse link NW_004955409 5,121,332 5,210,729 RGD:9068941
G Pcnt pericentrin JBrowse link NW_004955407 42,735,078 42,835,851 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 NW_004955422 13,880,525 13,907,963 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 NW_004955441 13,525,686 13,533,458 RGD:7240710
RGD:9068941
G Pigf phosphatidylinositol glycan anchor biosynthesis class F JBrowse link NW_004955441 13,492,334 13,525,581 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 NW_004955513 639,798 648,360 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 NW_004955532 3,707,680 3,790,565 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 NW_004955467 9,024,112 9,050,062 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 NW_004955557 947,368 1,252,701 RGD:9068941
G Huwe1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link NW_004955475 550,643 671,771 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 NW_004955437 467,018 473,084 RGD:9068941
G Skiv2l Ski2 like RNA helicase JBrowse link NW_004955437 473,192 482,811 RGD:9068941
G Ttc37 tetratricopeptide repeat domain 37 JBrowse link NW_004955418 16,989,400 17,068,479 RGD:9068941
trichohepatoenteric syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Agk acylglycerol kinase JBrowse link NW_004955494 1,924,026 2,041,914 RGD:9068941
G Ttc37 tetratricopeptide repeat domain 37 JBrowse link NW_004955418 16,989,400 17,068,479 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 NW_004955437 473,192 482,811 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 NW_004955417 21,674,545 21,913,137 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 NW_004955451 13,817,559 13,822,342 RGD:7240710
RGD:9068941
urofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpse2 heparanase 2 (inactive) JBrowse link NW_004955507 4,442,677 5,205,976 RGD:9068941
G Lrig2 leucine rich repeats and immunoglobulin like domains 2 JBrowse link NW_004955435 16,468,300 16,522,503 RGD:9068941
Urofacial Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hpse2 heparanase 2 (inactive) JBrowse link NW_004955507 4,442,677 5,205,976 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 NW_004955435 16,468,300 16,522,503 RGD:9068941
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 NW_004955489 8,888,845 8,944,778 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 NW_004955454 2,482,968 2,497,339 RGD:7240710
RGD:9068941
VERVERI-BRADY SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Qrich1 glutamine rich 1 JBrowse link NW_004955532 1,052,174 1,092,211 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11656
    Pathological Conditions, Signs and Symptoms 6834
      Pathologic Processes 4621
        Disease Attributes 502
          Facies 238
            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 4
            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 14
            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 2
            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 3
            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 + 3
            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 1
            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 1
            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.