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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 9 133,269,369 133,309,602 RGD:9068941
G AFF4 AF4/FMR2 family member 4 JBrowse link 5 134,451,740 134,532,517 RGD:9068941
G CCBE1 collagen and calcium binding EGF domains 1 JBrowse link 18 56,149,036 56,412,550 RGD:9068941
G CHD8 chromodomain helicase DNA binding protein 8 JBrowse link 14 20,281,422 20,326,361 RGD:9068941
G DNMT3A DNA methyltransferase 3 alpha JBrowse link 2A 25,331,095 25,441,785 RGD:9068941
G FMR1 FMRP translational regulator 1 JBrowse link X 147,366,713 147,405,327 RGD:9068941
G JAG1 jagged canonical Notch ligand 1 JBrowse link 20 10,582,094 10,618,383 RGD:9068941
G MSL3 MSL complex subunit 3 JBrowse link X 11,676,301 11,693,474 RGD:9068941
G RAB40AL RAB40A like JBrowse link X 102,540,441 102,541,871 RGD:9068941
G TBCE tubulin folding cofactor E JBrowse link 1 215,929,658 216,020,613 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 2B 235,817,633 235,979,780 RGD:9068941
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 2A 5,840,399 5,841,762 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 1 26,801,607 26,804,333 RGD:9068941
G PAX6 paired box 6 JBrowse link 11 31,641,813 31,671,071 RGD:9068941
G PITX2 paired like homeodomain 2 JBrowse link 4 113,676,846 113,696,518 RGD:7240710
RGD:9068941
G PRDM5 PR/SET domain 5 JBrowse link 4 124,036,911 124,252,056 RGD:9068941
Ayme-Gripp syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G MAF MAF bZIP transcription factor JBrowse link 16 79,618,156 79,624,460 RGD:7240710
RGD:9068941
Baraitser-Winter syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTB actin beta JBrowse link 7 5,800,540 5,803,121 RGD:9068941
G ACTG1 actin gamma 1 JBrowse link 17 81,668,221 81,671,087 RGD:9068941
Baraitser-Winter Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ACTB actin beta JBrowse link 7 5,800,540 5,803,121 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 17 81,668,221 81,671,087 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 16 3,138,217 3,141,878 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 10 74,230,684 74,252,072 RGD:9068941
G KAT6B lysine acetyltransferase 6B JBrowse link 10 74,020,143 74,225,546 RGD:7240710
RGD:9068941
Boomerang dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FLNB filamin B JBrowse link 3 59,359,234 59,521,989 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 5 33,323,233 33,325,775 RGD:9068941
RGD:7240710
Burn-Mckeown Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADNP2 ADNP homeobox 2 JBrowse link 18 77,080,446 77,103,098 RGD:9068941
G ATP9B ATPase phospholipid transporting 9B (putative) JBrowse link 18 75,686,430 75,988,106 RGD:9068941
G CTDP1 CTD phosphatase subunit 1 JBrowse link 18 76,646,641 76,720,928 RGD:9068941
G GALR1 galanin receptor 1 JBrowse link 18 73,899,995 73,917,849 RGD:9068941
G HSBP1L1 heat shock factor binding protein 1 like 1 JBrowse link 18 76,916,883 76,934,867 RGD:9068941
G MBP myelin basic protein JBrowse link 18 73,628,537 73,781,956 RGD:9068941
G NFATC1 nuclear factor of activated T cells 1 JBrowse link 18 76,020,443 76,133,790 RGD:9068941
G PARD6G par-6 family cell polarity regulator gamma JBrowse link 18 77,121,496 77,207,613 RGD:9068941
G RBFA ribosome binding factor A JBrowse link 18 76,997,888 77,013,869 RGD:9068941
G SALL3 spalt like transcription factor 3 JBrowse link 18 75,602,465 75,620,927 RGD:9068941
G SLC66A2 solute carrier family 66 member 2 JBrowse link 18 76,869,584 76,915,357 RGD:9068941
G TXNL4A thioredoxin like 4A JBrowse link 18 76,937,460 76,952,428 RGD:7240710
RGD:9068941
G ZNF236 zinc finger protein 236 JBrowse link 18 73,474,631 73,620,028 RGD:9068941
G ZNF516 zinc finger protein 516 JBrowse link 18 73,021,762 73,150,904 RGD:9068941
C syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G CD96 CD96 molecule JBrowse link 3 115,619,322 115,720,858 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 7 145,124,291 145,327,115 RGD:9068941
G HRAS HRas proto-oncogene, GTPase JBrowse link 11 568,305 571,078 RGD:9068941
G KRAS KRAS proto-oncogene, GTPase JBrowse link 12 63,679,293 63,724,335 RGD:9068941
G LOC100977025 dual specificity mitogen-activated protein kinase kinase 2 JBrowse link 19 4,064,626 4,097,933 RGD:9068941
G MAP2K1 mitogen-activated protein kinase kinase 1 JBrowse link 15 63,613,988 63,714,928 RGD:9068941
G PTPN11 protein tyrosine phosphatase non-receptor type 11 JBrowse link 12 113,412,077 113,503,762 RGD:9068941
G SNAPC5 small nuclear RNA activating complex polypeptide 5 JBrowse link 15 63,712,363 63,720,420 RGD:9068941
G TIPIN TIMELESS interacting protein JBrowse link 15 63,566,463 63,586,090 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 7 145,124,291 145,327,115 RGD:7240710
RGD:9068941
G KRAS KRAS proto-oncogene, GTPase JBrowse link 12 63,679,293 63,724,335 RGD:9068941
G LOC100977025 dual specificity mitogen-activated protein kinase kinase 2 JBrowse link 19 4,064,626 4,097,933 RGD:9068941
cardiofaciocutaneous syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G KRAS KRAS proto-oncogene, GTPase JBrowse link 12 63,679,293 63,724,335 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 15 63,613,988 63,714,928 RGD:7240710
RGD:9068941
cardiofaciocutaneous syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100977025 dual specificity mitogen-activated protein kinase kinase 2 JBrowse link 19 4,064,626 4,097,933 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 14 105,635,757 105,714,465 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 16 4,421,899 4,445,761 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 5 134,451,740 134,532,517 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 17 25,333,945 25,358,151 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 1 23,153,066 23,217,693 RGD:7240710
RGD:9068941
Coffin-Siris syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARID1B AT-rich interaction domain 1B JBrowse link 6 160,591,552 160,974,991 RGD:9068941
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 9 2,043,336 2,189,409 RGD:9068941
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 19 11,250,006 11,334,952 RGD:9068941
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 22 22,627,950 22,673,921 RGD:9068941
Coffin-Siris syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ARID1B AT-rich interaction domain 1B JBrowse link 6 160,591,552 160,974,991 RGD:9068941
RGD:7240710
G DPF2 double PHD fingers 2 JBrowse link 11 64,037,128 64,055,727 RGD:9068941
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 9 2,043,336 2,189,409 RGD:9068941
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 19 11,250,006 11,334,952 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 6 21,765,921 21,771,728 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 12 39,552,155 39,567,804 RGD:7240710
RGD:9068941
Coffin-Siris syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 22 22,627,950 22,673,921 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 19 11,250,006 11,334,952 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 17 16,860,098 16,884,946 RGD:9068941
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 43,692,717 43,871,652 RGD:9068941
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 64,037,128 64,055,727 RGD:9068941
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 32,977,917 33,004,144 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 11 66,034,536 66,042,114 RGD:9068941
G CRLF1 cytokine receptor like factor 1 JBrowse link 19 19,040,355 19,048,927 RGD:9068941
G KLHL7 kelch like family member 7 JBrowse link 7 23,399,130 23,467,919 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 19 19,040,355 19,048,927 RGD:7240710
RGD:9068941
G KLHL7 kelch like family member 7 JBrowse link 7 23,399,130 23,467,919 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 11 66,034,536 66,042,114 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 7 23,399,130 23,467,919 RGD:9068941
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 1 159,448,023 159,661,741 RGD:9068941
G HESX1 HESX homeobox 1 JBrowse link 3 58,341,955 58,370,338 RGD:9068941
G LHX3 LIM homeobox 3 JBrowse link 9 136,252,974 136,260,366 RGD:9068941
G LHX4 LIM homeobox 4 JBrowse link 1 159,390,105 159,438,802 RGD:9068941
G POU1F1 POU class 1 homeobox 1 JBrowse link 3 89,504,290 89,521,168 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 7 44,177,940 44,324,319 RGD:9068941
RGD:7240710
fibrochondrogenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A1 collagen type XI alpha 1 chain JBrowse link 1 104,248,931 104,481,259 RGD:9068941
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,849,885 33,879,635 RGD:9068941
Fibrochondrogenesis 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A1 collagen type XI alpha 1 chain JBrowse link 1 104,248,931 104,481,259 RGD:7240710
RGD:9068941
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,849,885 33,879,635 RGD:9068941
Fibrochondrogenesis 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,849,885 33,879,635 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 2A 113,747,536 113,775,619 RGD:7240710
RGD:9068941
geleophysic dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTSL2 ADAMTS like 2 JBrowse link 9 133,269,369 133,309,602 RGD:9068941
G FBN1 fibrillin 1 JBrowse link 15 45,680,688 45,918,111 RGD:9068941
geleophysic dysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ADAMTSL2 ADAMTS like 2 JBrowse link 9 133,269,369 133,309,602 RGD:7240710
RGD:9068941
geleophysic dysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBN1 fibrillin 1 JBrowse link 15 45,680,688 45,918,111 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 11 64,233,504 64,252,797 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 3 129,223,025 129,372,404 RGD:9068941
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 34,020,893 34,056,842 RGD:9068941
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 11 117,203,337 117,294,755 RGD:7240710
RGD:9068941
G SMC1A structural maintenance of chromosomes 1A JBrowse link X 53,697,154 53,745,641 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 18 47,692,311 47,802,530 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 16 53,023,203 53,451,708 RGD:7240710
RGD:9068941
G RPGRIP1L RPGRIP1 like JBrowse link 16 52,920,790 53,023,178 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 1 185,036,950 185,107,039 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 13 101,352,535 101,710,917 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 2B 215,434,345 215,660,429 RGD:9068941
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 4 109,126,992 109,404,266 RGD:9068941
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 74,957,741 75,000,604 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 2A 48,849,746 48,948,007 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 3 9,922,769 9,939,025 RGD:9068941
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 89,685,766 89,702,661 RGD:9068941
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 99,427,200 99,457,678 RGD:9068941
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 11 117,515,778 117,559,364 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 12 70,520,722 70,633,149 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 19 59,913,040 59,931,108 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 14 99,122,231 99,205,962 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 4 75,131,196 75,155,347 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 12 110,449,101 110,508,136 RGD:7240710
RGD:9068941
KBG syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ANKRD11 ankyrin repeat domain 11 JBrowse link 16 89,632,991 89,795,110 RGD:7240710
RGD:9068941
G KAT6B lysine acetyltransferase 6B JBrowse link 10 74,020,143 74,225,546 RGD:9068941
G TRAPPC2L trafficking protein particle complex 2 like JBrowse link 16 89,226,211 89,231,854 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 21 37,339,201 37,634,876 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 11 61,327,454 61,332,323 RGD:7240710
RGD:9068941
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 5 179,965,928 179,976,159 RGD:9068941
G CHST3 carbohydrate sulfotransferase 3 JBrowse link 10 70,951,211 71,000,022 RGD:9068941
G COL11A2 collagen type XI alpha 2 chain JBrowse link 6 33,849,885 33,879,635 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 15 87,528,828 87,555,931 RGD:9068941
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 1,027,967 1,550,182 RGD:9068941
G HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1 JBrowse link 15 60,848,030 61,017,273 RGD:9068941
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 88,088,758 88,093,022 RGD:9068941
G PTEN phosphatase and tensin homolog JBrowse link 10 88,093,539 88,197,902 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 16 55,780,633 55,843,738 RGD:9068941
G APOB apolipoprotein B JBrowse link 2A 21,100,349 21,142,545 RGD:9068941
G ARID1B AT-rich interaction domain 1B JBrowse link 6 160,591,552 160,974,991 RGD:9068941
G ASXL3 ASXL transcriptional regulator 3 JBrowse link 18 30,403,023 30,546,237 RGD:9068941
G ATP1A1 ATPase Na+/K+ transporting subunit alpha 1 JBrowse link 1 121,212,161 121,232,876 RGD:9068941
G ATXN2L ataxin 2 like JBrowse link 16 29,210,011 29,223,859 RGD:9068941
G B3GLCT beta 3-glucosyltransferase JBrowse link 13 30,913,127 31,038,347 RGD:9068941
G B4GALT7 beta-1,4-galactosyltransferase 7 JBrowse link 5 179,965,928 179,976,159 RGD:9068941
G BCL11A BAF chromatin remodeling complex subunit BCL11A JBrowse link 2A 61,695,613 61,795,818 RGD:9068941
G BEGAIN brain enriched guanylate kinase associated JBrowse link 14 100,471,147 100,484,789 RGD:9068941
G CDH5 cadherin 5 JBrowse link 16 65,787,426 65,825,360 RGD:9068941
G CDHR2 cadherin related family member 2 JBrowse link 5 178,916,707 178,963,944 RGD:9068941
G CDK13 cyclin dependent kinase 13 JBrowse link 7 44,177,940 44,324,319 RGD:9068941
G CERS2 ceramide synthase 2 JBrowse link 1 129,962,894 129,973,074 RGD:9068941
G CHD3 chromodomain helicase DNA binding protein 3 JBrowse link 17 7,910,644 7,934,285 RGD:9068941
G CHD8 chromodomain helicase DNA binding protein 8 JBrowse link 14 20,281,422 20,326,361 RGD:9068941
G CIC capicua transcriptional repressor JBrowse link 19 47,748,261 47,775,304 RGD:9068941
G CIT citron rho-interacting serine/threonine kinase JBrowse link 12 120,641,747 120,832,511 RGD:9068941
G CLDN11 claudin 11 JBrowse link 3 175,621,472 175,636,782 RGD:9068941
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase JBrowse link 17 15,560,056 15,569,108 RGD:9068941
G COL6A3 collagen type VI alpha 3 chain JBrowse link 2B 243,407,786 243,497,700 RGD:9068941
G CREBBP CREB binding protein JBrowse link 16 3,820,507 3,974,200 RGD:9068941
G DBN1 drebrin 1 JBrowse link 5 179,820,791 179,833,546 RGD:9068941
G DDX3X DEAD-box helicase 3, X-linked JBrowse link X 41,474,515 41,491,479 RGD:9068941
G DDX41 DEAD-box helicase 41 JBrowse link 5 179,874,281 179,880,685 RGD:9068941
G DKK3 dickkopf WNT signaling pathway inhibitor 3 JBrowse link 11 11,824,955 11,871,139 RGD:9068941
G DLG4 discs large MAGUK scaffold protein 4 JBrowse link 17 7,207,483 7,236,000 RGD:9068941
G DOK3 docking protein 3 JBrowse link 5 179,864,910 179,874,157 RGD:9068941
G DSCAML1 DS cell adhesion molecule like 1 JBrowse link 11 116,196,121 116,564,715 RGD:9068941
G DSP desmoplakin JBrowse link 6 7,664,399 7,709,391 RGD:9068941
G EHMT1 euchromatic histone lysine methyltransferase 1 JBrowse link 9 137,699,213 137,895,564 RGD:9068941
G EIF4E1B eukaryotic translation initiation factor 4E family member 1B JBrowse link 5 178,998,930 179,014,809 RGD:9068941
G EMILIN3 elastin microfibril interfacer 3 JBrowse link 20 38,797,882 38,803,065 RGD:9068941
G F12 coagulation factor XII JBrowse link 5 179,766,089 179,773,854 RGD:9068941
G FAF2 Fas associated factor family member 2 JBrowse link 5 178,813,998 178,875,208 RGD:9068941
G FAM193B family with sequence similarity 193 member B JBrowse link 5 179,881,778 179,915,942 RGD:9068941
G FAM83H family with sequence similarity 83 member H JBrowse link 8 143,491,221 143,499,243 RGD:9068941
G FBN2 fibrillin 2 JBrowse link 5 129,435,248 129,715,699 RGD:9068941
G FBXO11 F-box protein 11 JBrowse link 2A 48,849,746 48,948,007 RGD:9068941
G FGFR4 fibroblast growth factor receptor 4 JBrowse link 5 179,454,995 179,466,114 RGD:9068941
G FKBP8 FKBP prolyl isomerase 8 JBrowse link 19 18,980,269 18,992,170 RGD:9068941
G GABRA1 gamma-aminobutyric acid type A receptor alpha1 subunit JBrowse link 5 163,928,392 163,981,127 RGD:9068941
G GLT8D2 glycosyltransferase 8 domain containing 2 JBrowse link 12 104,961,397 105,036,590 RGD:9068941
G GPRIN1 G protein regulated inducer of neurite outgrowth 1 JBrowse link 5 178,964,458 178,967,802 RGD:9068941
G GRK6 G protein-coupled receptor kinase 6 JBrowse link 5 179,790,665 179,807,473 RGD:9068941
G HDLBP high density lipoprotein binding protein JBrowse link 2B 247,293,154 247,381,509 RGD:9068941
G HK3 hexokinase 3 JBrowse link 5 179,248,348 179,266,657 RGD:9068941
G KCNB1 potassium voltage-gated channel subfamily B member 1 JBrowse link 20 46,761,428 46,885,521 RGD:9068941
G LMAN2 lectin, mannose binding 2 JBrowse link 5 179,696,018 179,716,076 RGD:9068941
G LOC100977262 sodium channel protein type 2 subunit alpha JBrowse link 2B 169,873,992 170,026,392 RGD:9068941
G MED13L mediator complex subunit 13L JBrowse link 12 116,906,557 117,187,192 RGD:9068941
G METTL11B methyltransferase like 11B JBrowse link 1 149,352,738 149,374,488 RGD:9068941
G MTREX Mtr4 exosome RNA helicase JBrowse link 5 60,227,431 60,345,303 RGD:9068941
G MXD3 MAX dimerization protein 3 JBrowse link 5 179,673,221 179,679,289 RGD:9068941
G NEU3 neuraminidase 3 JBrowse link 11 73,353,332 73,373,270 RGD:9068941
G NF2 neurofibromin 2 JBrowse link 22 28,454,119 28,544,013 RGD:9068941
G NFIB nuclear factor I B JBrowse link 9 14,432,239 14,664,424 RGD:9068941
G NFIX nuclear factor I X JBrowse link 19 13,315,482 13,402,406 RGD:9068941
G NSD1 nuclear receptor binding SET domain protein 1 JBrowse link 5 179,499,866 179,666,351 RGD:9068941
G NUP205 nucleoporin 205 JBrowse link 7 140,042,087 140,119,175 RGD:9068941
G PAH phenylalanine hydroxylase JBrowse link 12 103,811,761 103,891,726 RGD:9068941
G PDLIM7 PDZ and LIM domain 7 JBrowse link 5 179,846,476 179,860,619 RGD:9068941
G PFN3 profilin 3 JBrowse link 5 179,764,057 179,764,580 RGD:9068941
G PICALM phosphatidylinositol binding clathrin assembly protein JBrowse link 11 84,619,241 84,730,516 RGD:9068941
G PKD1L2 polycystin 1 like 2 JBrowse link 16 81,134,136 81,253,092 RGD:9068941
G PNPLA6 patatin like phospholipase domain containing 6 JBrowse link 19 7,683,241 7,710,444 RGD:9068941
G PRELID1 PRELI domain containing 1 JBrowse link 5 179,669,885 179,672,965 RGD:9068941
G PRR7 proline rich 7, synaptic JBrowse link 5 179,818,184 179,820,471 RGD:9068941
G RAB24 RAB24, member RAS oncogene family JBrowse link 5 179,667,583 179,669,864 RGD:9068941
G RALGAPB Ral GTPase activating protein non-catalytic beta subunit JBrowse link 20 35,906,029 36,011,685 RGD:9068941
G RANBP10 RAN binding protein 10 JBrowse link 16 67,460,311 67,536,849 RGD:9068941
G RGS14 regulator of G protein signaling 14 JBrowse link 5 179,721,876 179,736,608 RGD:9068941
G RNF44 ring finger protein 44 JBrowse link 5 178,896,097 178,903,872 RGD:9068941
G SATB1 SATB homeobox 1 JBrowse link 3 18,602,204 18,700,696 RGD:9068941
G SIDT1 SID1 transmembrane family member 1 JBrowse link 3 117,596,224 117,692,704 RGD:9068941
G SLC34A1 solute carrier family 34 member 1 JBrowse link 5 179,748,492 179,762,804 RGD:9068941
G SLC6A1 solute carrier family 6 member 1 JBrowse link 3 11,296,014 11,323,624 RGD:9068941
G SNCB synuclein beta JBrowse link 5 178,988,314 178,998,805 RGD:9068941
G SPAG9 sperm associated antigen 9 JBrowse link 17 49,924,650 50,081,918 RGD:9068941
G STK11 serine/threonine kinase 11 JBrowse link 19 1,188,537 1,210,677 RGD:9068941
G SYNGAP1 synaptic Ras GTPase activating protein 1 JBrowse link 6 34,111,285 34,144,490 RGD:9068941
G TAF1 TATA-box binding protein associated factor 1 JBrowse link X 70,684,192 70,784,292 RGD:9068941
G TAPBPL TAP binding protein like JBrowse link 12 6,499,353 6,509,844 RGD:9068941
G TBR1 T-box brain transcription factor 1 JBrowse link 2B 166,079,344 166,089,098 RGD:9068941
G TMED9 transmembrane p24 trafficking protein 9 JBrowse link 5 179,957,842 179,961,840 RGD:9068941
G TPCN2 two pore segment channel 2 JBrowse link 11 67,438,635 67,478,106 RGD:9068941
G TSPAN17 tetraspanin 17 JBrowse link 5 179,015,641 179,030,941 RGD:9068941
G UIMC1 ubiquitin interaction motif containing 1 JBrowse link 5 179,272,208 179,390,215 RGD:9068941
G UNC5A unc-5 netrin receptor A JBrowse link 5 179,170,309 179,248,377 RGD:9068941
G WSCD2 WSC domain containing 2 JBrowse link 12 109,096,956 109,218,774 RGD:9068941
G ZBTB18 zinc finger and BTB domain containing 18 JBrowse link 1 225,042,282 225,050,259 RGD:9068941
G ZBTB20 zinc finger and BTB domain containing 20 JBrowse link 3 118,365,142 118,806,716 RGD:9068941
G ZBTB46 zinc finger and BTB domain containing 46 JBrowse link 20 61,667,319 61,770,196 RGD:9068941
G ZEB2 zinc finger E-box binding homeobox 2 JBrowse link 2B 148,460,904 148,596,500 RGD:9068941
G ZNF346 zinc finger protein 346 JBrowse link 5 179,390,239 179,449,071 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 12 116,906,557 117,187,192 RGD:9068941
RGD:7240710
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FBXL3 F-box and leucine rich repeat protein 3 JBrowse link 13 77,266,496 77,283,651 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 6 46,189,426 46,411,889 RGD:7240710
RGD:9068941
G SUPT3H SPT3 homolog, SAGA and STAGA complex component JBrowse link 6 45,687,038 46,239,155 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 10 92,852,786 92,914,440 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 2B 148,024,000 148,370,779 RGD:9068941
G ZEB2 zinc finger E-box binding homeobox 2 JBrowse link 2B 148,460,904 148,596,500 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 17 48,417,634 48,495,725 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 17 48,417,634 48,495,725 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 7 1,838,001 1,871,974 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 17 7,858,734 7,876,220 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 10 78,294,867 78,492,484 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 17 82,141,531 82,143,623 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 6 160,591,552 160,974,991 RGD:9068941
G CDKL5 cyclin dependent kinase like 5 JBrowse link X 18,412,018 18,638,735 RGD:9068941
G RS1 retinoschisin 1 JBrowse link X 18,624,687 18,657,315 RGD:9068941
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 9 2,043,336 2,189,409 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 11 16,828,959 16,949,891 RGD:7240710
RGD:9068941
oligomeganephronia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G BCL2 BCL2 apoptosis regulator JBrowse link 18 59,797,184 59,993,298 RGD:9068941
Omodysplasia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G GPC6 glypican 6 JBrowse link 13 93,556,152 94,744,052 RGD:7240710
RGD:9068941
Omodysplasia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FZD2 frizzled class receptor 2 JBrowse link 17 13,007,752 13,013,346 RGD:9068941
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 10 134,189,800 134,214,759 RGD:7240710
RGD:9068941
Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G PTF1A pancreas associated transcription factor 1a JBrowse link 10 23,731,808 23,732,880 RGD:7240710
RGD:9068941
Pierpont syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G TBL1XR1 TBL1X receptor 1 JBrowse link 3 182,247,335 182,429,608 RGD:9068941
RGD:7240710
renal hypoplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G DDX54 DEAD-box helicase 54 JBrowse link 12 114,144,659 114,173,129 RGD:9068941
G EYA1 EYA transcriptional coactivator and phosphatase 1 JBrowse link 8 69,387,769 69,551,829 RGD:9068941
G KAT6B lysine acetyltransferase 6B JBrowse link 10 74,020,143 74,225,546 RGD:9068941
Seckel syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATR ATR serine/threonine kinase JBrowse link 3 147,074,993 147,204,399 RGD:7240710
RGD:9068941
G CENPJ centromere protein J JBrowse link 13 24,464,045 24,503,432 RGD:9068941
G CEP152 centrosomal protein 152 JBrowse link 15 46,011,447 46,084,233 RGD:9068941
G PCNT pericentrin JBrowse link 21 45,914,665 46,042,990 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 11 2,202,764 2,228,890 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 2A 47,663,304 47,671,463 RGD:7240710
RGD:9068941
G PIGF phosphatidylinositol glycan anchor biosynthesis class F JBrowse link 2A 47,627,376 47,663,272 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 9 130,464,487 130,475,719 RGD:9068941
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 53,245,162 53,324,579 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 17 7,910,644 7,934,285 RGD:7240710
RGD:9068941
syndromic X-linked intellectual disability Turner type term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G ATRX ATRX chromatin remodeler JBrowse link X 76,795,574 77,083,486 RGD:9068941
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 JBrowse link X 53,855,404 54,005,383 RGD:9068941
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 32,499,538 32,506,382 RGD:9068941
G SKIV2L Ski2 like RNA helicase JBrowse link 6 32,506,399 32,517,025 RGD:9068941
G TTC37 tetratricopeptide repeat domain 37 JBrowse link 5 19,939,324 20,036,558 RGD:9068941
trichohepatoenteric syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G AGK acylglycerol kinase JBrowse link 7 145,909,004 146,050,512 RGD:9068941
G TTC37 tetratricopeptide repeat domain 37 JBrowse link 5 19,939,324 20,036,558 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 6 32,506,399 32,517,025 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 8 114,626,357 114,854,222 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 17 18,800,426 18,814,838 RGD:7240710
RGD:9068941
urofacial syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPSE2 heparanase 2 (inactive) JBrowse link 10 98,566,705 99,344,205 RGD:9068941
Urofacial Syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G HPSE2 heparanase 2 (inactive) JBrowse link 10 98,566,705 99,344,205 RGD:7240710
RGD:9068941
Uruguay Faciocardiomusculoskeletal Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G FHL1 four and a half LIM domains 1 JBrowse link X 135,538,152 135,602,375 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 8 143,583,451 143,597,351 RGD:7240710
RGD:9068941
VERVERI-BRADY SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G QRICH1 glutamine rich 1 JBrowse link 3 50,035,676 50,098,667 RGD:7240710
RGD:9068941

Term paths to the root
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Term Annotations click to browse term
  disease 12321
    Pathological Conditions, Signs and Symptoms 7155
      Pathologic Processes 4813
        Disease Attributes 517
          Facies 240
            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 + 11
            Combined Pituitary Hormone Deficiency, 1 5
            Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism 0
            Congenital Heart Defects, Dysmorphic Facial Features, and Intellectual Developmental Disorder 1
            Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation 0
            Congenital Micromelic Dysplasia with Dislocation of Radius + 1
            Cortical Blindness, Retardation, and Postaxial Polydactyly 0
            Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
            Cree Mental Retardation Syndrome 0
            Crumpled Helices and Small Mouth 0
            Cubitus Valgus with Mental Retardation and Unusual Facies 0
            Cyprus Facial Neuromusculoskeletal Syndrome 0
            Davis Lafer Syndrome 0
            De Hauwere syndrome 0
            Deafness-Craniofacial Syndrome 0
            Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease 0
            Der Kaloustian Mcintosh Silver Syndrome 0
            Disproportionate Short Stature with Ptosis and Valvular Heart Lesions 0
            Distal Arthrogryposis, with Mental Retardation and Characteristic Facies 0
            Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 0
            Dubowitz syndrome 0
            Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet 0
            Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly 0
            Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features 0
            Ectrodactyly Cardiopathy Dysmorphism 0
            Edinburgh Malformation Syndrome 0
            FACES Syndrome 0
            Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification 0
            Faciocardiomelic Syndrome 0
            Feingold Trainer Syndrome 0
            Filippi Syndrome 1
            Fryns Macrocephaly 0
            Fryns Syndrome 0
            GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES 1
            Giacheti Syndrome 0
            Gingival Fibromatosis with Distinctive Facies 0
            Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy 1
            Granddad Syndrome 0
            Growth Deficiency and Mental Retardation with Facial Dysmorphism 2
            Growth Mental Deficiency Syndrome of Myhre 1
            Growth Retardation, Developmental Delay, Coarse Facies, and Early Death 2
            Hadziselimovic Syndrome 0
            Haspeslagh Fryns Muelenaere Syndrome 0
            Holoprosencephaly 10 0
            Hypotonia, Seizures, and Precocious Puberty 0
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES 1
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND PTOSIS 1
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES 1
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES 1
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH NASAL SPEECH, DYSMORPHIC FACIES, AND VARIABLE SKELETAL ANOMALIES 1
            INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES 1
            Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies + 3
            Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age 0
            Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies 1
            Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies 1
            Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies 1
            Iris Dysplasia Hypertelorism Deafness 0
            Irons Bhan Syndrome 0
            KBG syndrome 3
            Kahrizi syndrome 1
            Kaufman oculocerebrofacial syndrome 1
            Keppen-Lubinsky Syndrome 1
            Kozlowski Rafinski Klicharska Syndrome 0
            Kozlowski-Krajewska Syndrome 0
            Larsen-Like Syndromes + 4
            Leri Pleonosteosis 0
            Lichtenstein Syndrome 0
            Lymphedema, Cardiac Septal Defects, And Characteristic Facies 0
            MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION 2
            Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies 1
            Malocclusion and Short Stature 0
            Marfanoid Mental Retardation Syndrome, Autosomal 95
            McDonough Syndrome 0
            McPherson Clemens Syndrome 0
            Mental Retardation and Distinctive Facial Features with or without Cardiac Defects 1
            Mental Retardation, Buenos Aires Type 0
            Mental Retardation, Microcephaly, Epilepsy, and Coarse Face 0
            Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations 1
            Microcephaly Cervical Spine Fusion Anomalies 0
            Microcephaly Deafness Syndrome 0
            Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia 0
            Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 0
            Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects 0
            Mowat-Wilson syndrome 2
            Multiple Pterygium Syndrome, X-Linked 0
            NEURODEVELOPMENTAL DISORDER WITH COARSE FACIES AND MILD DISTAL SKELETAL ABNORMALITIES; 1
            NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES 1
            NF1 Microduplication Syndrome 0
            Nabais Sa-de Vries Syndrome, Type 1 1
            Nabais Sa-de Vries Syndrome, Type 2 1
            Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies 1
            Nicolaides Baraitser Syndrome 4
            Night Blindness Skeletal Anomalies Unusual Facies 0
            Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features 0
            Oculoskeletodental Syndrome 1
            Omodysplasia 2 1
            Oroacral Syndrome, Verloes-Koulischer Type 0
            Osteolysis Syndrome, Recessive 0
            Otoonychoperoneal Syndrome 0
            PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES 1
            Palant Cleft Palate Syndrome 0
            Partington Anderson Syndrome 0
            Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis 1
            Pfeiffer Palm Teller Syndrome 0
            Pierpont syndrome 1
            Pierre Robin Sequence with Facial and Digital Anomalies 0
            Progeroid Facial Appearance with Hand Anomalies 0
            Radioulnar Synostosis Retinal Pigment Abnormalities 0
            Ramos Arroyo Clark Syndrome 0
            Renal Dysplasia - Limb Defects Syndrome 0
            Renal and Mullerian Duct Hypoplasia + 4
            Robin Sequence with Distinctive Facial Appearance and Brachydactyly 0
            Roifman-Chitayat Syndrome 0
            Rudiger Syndrome 0
            Ruvalcaba Syndrome 0
            SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES 2
            SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES 1
            Schrander-Stumpel Theunissen Hulsmans Syndrome 0
            Seckel Syndrome 3 0
            Seckel syndrome 1 4
            Severe Growth Restriction with Distinctive Facies 1
            Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly 0
            Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 1
            Shprintzen Omphalocele Syndrome 0
            Snijders Blok-Campeau Syndrome 1
            Spinocerebellar Ataxia with Dysmorphism 0
            Spondyloepiphyseal Dysplasia Tarda with Characteristic Facies 0
            Thakker Donnai Syndrome 0
            Thomas Jewett Raines Syndrome 0
            Thrombocytopenia Robin Sequence 0
            Turnpenny-Fry Syndrome 1
            Uruguay Faciocardiomusculoskeletal Syndrome 1
            VERVERI-BRADY SYNDROME 1
            Verheij Syndrome 1
            White Forelock with Malformations 0
            Winter Harding Hyde Syndrome 0
            Zechi-Ceide Syndrome 0
            autosomal dominant mental retardation 49 1
            blepharophimosis-intellectual disability syndrome, SBBYS type 2
            cardiofaciocutaneous syndrome + 8
            chromosome 17q11.2 deletion syndrome, 1.4Mb 1
            chromosome 5p13 duplication syndrome 0
            cold-induced sweating syndrome + 3
            distal 10q deletion syndrome 0
            fibrochondrogenesis + 2
            geleophysic dysplasia + 3
            hereditary spastic paraplegia 23 1
            macrocephaly-autism syndrome 2
            metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 2
            microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
            neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies 1
            syndromic X-linked intellectual disability Turner type 2
            trichohepatoenteric syndrome + 4
            trichorhinophalangeal syndrome type III 1
            urofacial syndrome + 1
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.