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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:cleidocranial dysplasia
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Accession:DOID:13994 term browser browse the term
Definition:An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. (DO)
Synonyms:exact_synonym: CCD;   CLCD1;   Marie Sainton syndrome;   Marie-Sainton disease;   Scheuthauer Marie Sainton syndrome;   cleidocranial digital dysostoses;   cleidocranial digital dysostosis;   cleidocranial dysostoses;   cleidocranial dysostosis;   cleidocranial dysplasia 1;   cleidocranial dysplasias
 narrow_synonym: CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE;   LARGE FONTANELLES;   cleidocranial dysplasia 1, forme fruste, dental anomalies only;   cleidocranial dysplasia 1, forme fruste, with brachydactyly;   severe cleidocranial dysplasia with osteoporosis and scoliosis
 broad_synonym: RUNX2-RELATED CONDITION
 primary_id: MESH:D002973
 alt_id: OMIM:119600
 xref: EFO:0004153;   GARD:6118;   ICD10CM:Q74.0;   MONDO:0007340;   NCI:C75020;   ORDO:1452
For additional species annotation, visit the Alliance of Genome Resources.

Please select species to view GViewer data.

show annotations for term's descendants           Sort by:
cleidocranial dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Agt angiotensinogen ISO ClinVar Annotator: match by term: Large fontanelles ClinVar PMID:25741868 PMID:35005812 NCBI chrNW_004624775:18,846,222...18,856,093
Ensembl chrNW_004624775:18,849,118...18,855,577 		JBrowse link
G G AGT angiotensinogen ISO ClinVar Annotator: match by term: Large fontanelles ClinVar PMID:25741868 PMID:35005812 NCBI chr25:67,964,840...67,977,006
Ensembl chr25:67,962,401...67,973,324 		JBrowse link
G P AGT angiotensinogen ISO ClinVar Annotator: match by term: Large fontanelles ClinVar PMID:25741868 PMID:35005812 NCBI chr14:59,643,030...59,656,835
Ensembl chr14:59,643,292...59,656,833 		JBrowse link
G S Agt angiotensinogen ISO ClinVar Annotator: match by term: Large fontanelles ClinVar PMID:25741868 PMID:35005812 NCBI chrNW_004936484:19,713,299...19,721,144
Ensembl chrNW_004936484:19,716,165...19,721,261 		JBrowse link
G D AGT angiotensinogen ISO ClinVar Annotator: match by term: Large fontanelles ClinVar PMID:25741868 PMID:35005812 NCBI chr 4:8,681,192...8,694,059
Ensembl chr 4:8,683,798...8,693,880 		JBrowse link
G B AGT angiotensinogen ISO ClinVar Annotator: match by term: Large fontanelles ClinVar PMID:25741868 PMID:35005812 NCBI chr 1:206,252,141...206,263,830
Ensembl chr 1:211,279,015...211,291,044 		JBrowse link
G C Agt angiotensinogen ISO ClinVar Annotator: match by term: Large fontanelles ClinVar PMID:25741868 PMID:35005812 NCBI chrNW_004955492:7,863,662...7,874,863
Ensembl chrNW_004955492:7,866,833...7,873,357 		JBrowse link
G R Agt angiotensinogen ISO ClinVar Annotator: match by term: Large fontanelles ClinVar PMID:25741868 PMID:35005812 NCBI chr19:52,529,139...52,549,618
Ensembl chr19:52,529,185...52,540,977 		JBrowse link
G M Agt angiotensinogen ISO ClinVar Annotator: match by term: Large fontanelles ClinVar PMID:25741868 PMID:35005812 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G H AGT angiotensinogen IAGP ClinVar Annotator: match by term: Large fontanelles ClinVar PMID:25741868 PMID:35005812 NCBI chr 1:230,702,523...230,745,583
Ensembl chr 1:230,690,776...230,745,576 		JBrowse link
G H LOC109611589 runt related transcription factor 2 polyalanine expansion region IAGP ClinVar Annotator: match by term: Cleidocranial dysostosis
ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis
ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly		 ClinVar PMID:9182765 PMID:25741868 PMID:28492532 NCBI chr 6:45,422,679...45,422,801 JBrowse link
G M LOC109611590 Runx2 P1 promoter region ISO ClinVar Annotator: match by term: Cleidocranial dysostosis ClinVar NCBI chr17:45,125,132...45,128,989 JBrowse link
G H LOC109611593 RUNX2 P1 promoter region IAGP ClinVar Annotator: match by term: Cleidocranial dysostosis ClinVar NCBI chr 6:45,327,048...45,328,652 JBrowse link
G N Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly OMIM
ClinVar		 PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 More... NCBI chrNW_004624754:14,601,574...14,868,469
Ensembl chrNW_004624754:14,679,974...14,867,729 		JBrowse link
G G RUNX2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly OMIM
ClinVar		 PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 More... NCBI chr17:26,679,386...26,807,812
Ensembl chr17:26,683,175...26,807,319 		JBrowse link
G P RUNX2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly OMIM
ClinVar		 PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 More... NCBI chr 7:40,106,581...40,353,304
Ensembl chr 7:40,106,532...40,460,687 		JBrowse link
G S Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly OMIM
ClinVar		 PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 More... NCBI chrNW_004936476:14,695,965...14,818,246
Ensembl chrNW_004936476:14,695,965...14,905,157 		JBrowse link
G D RUNX2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly OMIM
ClinVar		 PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 More... NCBI chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785
Ensembl chr12:13,628,539...13,840,785 		JBrowse link
G B RUNX2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly OMIM
ClinVar		 PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 More... NCBI chr 6:45,003,962...45,133,148
Ensembl chr 6:46,189,432...46,524,389 		JBrowse link
G C Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly OMIM
ClinVar		 PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 More... NCBI chrNW_004955437:10,598,145...10,885,858
Ensembl chrNW_004955437:10,598,145...10,800,560 		JBrowse link
G R Runx2 RUNX family transcription factor 2 ISO
ISS		 DNA:insertion, point mutation:exon:p.W283X (human)
OMIM:119600 | OMIM:216330
ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly
CTD Direct Evidence: marker/mechanism		 MouseDO
ClinVar
CTD
OMIM
RGD		 PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 More... RGD:1601649 NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
G M Runx2 runt related transcription factor 2 ISO
IAGP		 DNA:insertion, point mutation:exon:p.W283X (human)
ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly
OMIM:119600 | OMIM:216330
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 More... RGD:1601649 NCBI chr17:44,806,873...45,125,518
Ensembl chr17:44,806,874...45,125,684 		JBrowse link
G H RUNX2 RUNX family transcription factor 2 IAGP
ISS
EXP		 DNA:insertion, point mutation:exon:p.W283X (human)
ClinVar Annotator: match by term: Cleidocranial dysostosis
ClinVar Annotator: match by term: CLEIDOCRANIAL DYSPLASIA 1 | ClinVar Annotator: match by term: Cleidocranial dysostosis
ClinVar Annotator: match by term: Cleidocranial dysostosis | ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, with brachydactyly
OMIM:119600 | OMIM:216330
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleidocranial dysplasia 1, forme fruste, dental anomalies only		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:9182765 PMID:9207800 PMID:10521292 PMID:10545612 PMID:10980549 More... RGD:1601649 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G M Supt3 SPT3, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Cleidocranial dysostosis ClinVar PMID:33987976 NCBI chr17:45,088,005...45,430,181
Ensembl chr17:45,088,039...45,430,177 		JBrowse link
G N Supt3h SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Cleidocranial dysostosis ClinVar PMID:33987976 NCBI chrNW_004624754:14,823,331...15,236,032 JBrowse link
G G SUPT3H SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Cleidocranial dysostosis ClinVar PMID:33987976 NCBI chr17:26,849,199...27,417,306 JBrowse link
G P SUPT3H SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Cleidocranial dysostosis ClinVar PMID:33987976 NCBI chr 7:39,763,303...40,161,123
Ensembl chr 7:39,751,927...40,161,103 		JBrowse link
G S Supt3h SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Cleidocranial dysostosis ClinVar PMID:33987976 NCBI chrNW_004936476:14,857,428...15,336,145
Ensembl chrNW_004936476:14,866,970...15,334,893 		JBrowse link
G D SUPT3H SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Cleidocranial dysostosis ClinVar PMID:33987976 NCBI chr12:13,083,084...13,684,090
Ensembl chr12:13,154,955...13,670,397 		JBrowse link
G B SUPT3H SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Cleidocranial dysostosis ClinVar PMID:33987976 NCBI chr 6:44,406,978...44,960,039 JBrowse link
G C Supt3h SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Cleidocranial dysostosis ClinVar PMID:33987976 NCBI chrNW_004955437:10,207,802...10,649,559
Ensembl chrNW_004955437:10,258,783...10,649,590 		JBrowse link
G R Supt3h SPT3 homolog, SAGA and STAGA complex component ISO ClinVar Annotator: match by term: Cleidocranial dysostosis ClinVar PMID:33987976 NCBI chr 9:15,878,296...16,206,768
Ensembl chr 9:15,868,287...16,206,706 		JBrowse link
G H SUPT3H SPT3 homolog, SAGA and STAGA complex component IAGP ClinVar Annotator: match by term: Cleidocranial dysostosis ClinVar PMID:33987976 NCBI chr 6:44,809,057...45,377,934
Ensembl chr 6:44,809,317...45,377,953 		JBrowse link
G N Tbx1 T-box transcription factor 1 ISO RGD PMID:25209980 RGD:155641242 NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		JBrowse link
G G TBX1 T-box transcription factor 1 ISO RGD PMID:25209980 RGD:155641242 NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244 		JBrowse link
G P TBX1 T-box transcription factor 1 ISO RGD PMID:25209980 RGD:155641242 NCBI chr14:51,289,376...51,297,110
Ensembl chr14:51,289,321...51,296,725 		JBrowse link
G S Tbx1 T-box transcription factor 1 ISO RGD PMID:25209980 RGD:155641242 NCBI chrNW_004936619:3,662,567...3,670,470
Ensembl chrNW_004936619:3,664,468...3,670,525 		JBrowse link
G D TBX1 T-box transcription factor 1 ISO RGD PMID:25209980 RGD:155641242 NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784 		JBrowse link
G B TBX1 T-box transcription factor 1 ISO RGD PMID:25209980 RGD:155641242 NCBI chr22:2,521,080...2,541,267 JBrowse link
G C Tbx1 T-box transcription factor 1 ISO RGD PMID:25209980 RGD:155641242 NCBI chrNW_004955442:18,320,674...18,327,062
Ensembl chrNW_004955442:18,319,762...18,325,337 		JBrowse link
G R Tbx1 T-box transcription factor 1 ISO RGD PMID:25209980 RGD:155641242 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G M Tbx1 T-box 1 IMP RGD PMID:25209980 RGD:155641242 NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421 		JBrowse link
G H TBX1 T-box transcription factor 1 ISO RGD PMID:25209980 RGD:155641242 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
Parietal Foramina with Cleidocranial Dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia OMIM
ClinVar		 PMID:14571277 NCBI chrNW_004624733:15,288,417...15,294,481
Ensembl chrNW_004624733:15,288,326...15,294,568 		JBrowse link
G G MSX2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia OMIM
ClinVar		 PMID:14571277 NCBI chr23:76,873,499...76,879,935
Ensembl chr23:76,873,669...76,879,553 		JBrowse link
G P MSX2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia OMIM
ClinVar		 PMID:14571277 NCBI chr16:49,765,587...49,771,745
Ensembl chr16:49,765,910...49,771,789 		JBrowse link
G S Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia OMIM
ClinVar		 PMID:14571277 NCBI chrNW_004936609:1,216,436...1,221,528
Ensembl chrNW_004936609:1,216,436...1,221,561 		JBrowse link
G D MSX2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia OMIM
ClinVar		 PMID:14571277 NCBI chr 4:38,002,724...38,007,407
Ensembl chr 4:38,002,428...38,007,407 		JBrowse link
G B MSX2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia OMIM
ClinVar		 PMID:14571277 NCBI chr 5:170,063,137...170,070,226
Ensembl chr 5:176,967,902...176,976,609 		JBrowse link
G C Msx2 msh homeobox 2 ISO ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia OMIM
ClinVar		 PMID:14571277 NCBI chrNW_004955408:27,323,405...27,329,484
Ensembl chrNW_004955408:27,323,360...27,329,755 		JBrowse link
G R Msx2 msh homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia		 OMIM
CTD
ClinVar		 PMID:14571277 NCBI chr17:11,097,214...11,102,879
Ensembl chr17:11,097,103...11,102,879 		JBrowse link
G M Msx2 msh homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia		 OMIM
CTD
ClinVar		 PMID:14571277 NCBI chr13:53,620,917...53,626,816
Ensembl chr13:53,620,920...53,627,110 		JBrowse link
G H MSX2 msh homeobox 2 IAGP
EXP		 ClinVar Annotator: match by term: Parietal foramina with cleidocranial dysplasia
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:14571277 NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896 		JBrowse link
Yunis-Varon syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Yunis-Varon syndrome OMIM
ClinVar		 PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 More... NCBI chrNW_004624850:29,362...156,346 JBrowse link
G G FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Yunis-Varon syndrome OMIM
ClinVar		 PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 More... NCBI chr13:64,054,000...64,186,800
Ensembl chr13:64,054,002...64,186,714 		JBrowse link
G P FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Yunis-Varon syndrome OMIM
ClinVar		 PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 More... NCBI chr 1:75,694,151...75,847,021
Ensembl chr 1:75,694,151...75,847,528 		JBrowse link
G S Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Yunis-Varon syndrome OMIM
ClinVar		 PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 More... NCBI chrNW_004936564:5,736,908...5,842,210
Ensembl chrNW_004936564:5,736,873...5,842,722 		JBrowse link
G D FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Yunis-Varon syndrome OMIM
ClinVar		 PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 More... NCBI chr12:66,508,801...66,632,830
Ensembl chr12:66,509,431...66,632,822 		JBrowse link
G B FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Yunis-Varon syndrome OMIM
ClinVar		 PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 More... NCBI chr 6:107,495,637...107,631,201
Ensembl chr 6:111,539,937...111,673,894 		JBrowse link
G C Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Yunis-Varon syndrome OMIM
ClinVar		 PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 More... NCBI chrNW_004955411:3,135,752...3,217,891 JBrowse link
G R Fig4 FIG4 phosphoinositide 5-phosphatase ISO
ISS		 ClinVar Annotator: match by term: Yunis-Varon syndrome
OMIM:216340
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 More... NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844 		JBrowse link
G M Fig4 FIG4 phosphoinositide 5-phosphatase ISO
IAGP		 ClinVar Annotator: match by term: Yunis-Varon syndrome
CTD Direct Evidence: marker/mechanism
OMIM:216340		 OMIM
ClinVar
CTD
MouseDO		 PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 More... NCBI chr10:41,064,168...41,179,237
Ensembl chr10:41,064,168...41,179,256 		JBrowse link
G H FIG4 FIG4 phosphoinositide 5-phosphatase IAGP
ISS
EXP		 ClinVar Annotator: match by term: Yunis-Varon syndrome
OMIM:216340
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
OMIM		 PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 More... NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098 		JBrowse link
G N Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar PMID:17956977 PMID:28492532 PMID:28635952 NCBI chrNW_004624746:12,889,010...12,992,318
Ensembl chrNW_004624746:12,888,208...12,992,397 		JBrowse link
G G VAC14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar PMID:17956977 PMID:28492532 PMID:28635952 NCBI chr 5:53,829,168...53,944,178
Ensembl chr 5:53,828,117...53,944,136 		JBrowse link
G P VAC14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar PMID:17956977 PMID:28492532 PMID:28635952 NCBI chr 6:13,683,800...13,791,246
Ensembl chr 6:13,683,801...13,791,241 		JBrowse link
G S Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar PMID:17956977 PMID:28492532 PMID:28635952 NCBI chrNW_004936475:22,842,333...22,944,680
Ensembl chrNW_004936475:22,842,248...22,944,690 		JBrowse link
G D VAC14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar PMID:17956977 PMID:28492532 PMID:28635952 NCBI chr 5:76,635,931...76,737,414
Ensembl chr 5:76,636,355...76,737,353 		JBrowse link
G B VAC14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar PMID:17956977 PMID:28492532 PMID:28635952 NCBI chr16:54,216,303...54,330,073
Ensembl chr16:70,520,440...70,634,143 		JBrowse link
G C Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar PMID:17956977 PMID:28492532 PMID:28635952 NCBI chrNW_004955484:3,451,187...3,557,471
Ensembl chrNW_004955484:3,451,016...3,557,824 		JBrowse link
G R Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar PMID:17956977 PMID:28492532 PMID:28635952 NCBI chr19:38,590,569...38,691,911
Ensembl chr19:38,590,569...38,691,909 		JBrowse link
G M Vac14 Vac14 homolog (S. cerevisiae) ISO ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar PMID:17956977 PMID:28492532 PMID:28635952 NCBI chr 8:111,345,161...111,447,030
Ensembl chr 8:111,345,217...111,447,030 		JBrowse link
G H VAC14 VAC14 component of PIKFYVE complex IAGP ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar PMID:17956977 PMID:28492532 PMID:28635952 NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 175454
    Developmental Disease 147731
      bone development disease 23448
        osteochondrodysplasia 8890
          cleidocranial dysplasia 73
            Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 0
            Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 0
            Cleidocranial Dysplasia, Recessive Form 0
            Parietal Foramina with Cleidocranial Dysplasia 10
            Yunis-Varon syndrome 20
Path 2
Term Annotations click to browse term
  disease 175454
    Developmental Disease 147731
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 135799
        genetic disease 131945
          monogenic disease 108583
            autosomal genetic disease 99984
              autosomal dominant disease 142935
                cleidocranial dysplasia 73
                  Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 0
                  Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly 0
                  Cleidocranial Dysplasia, Recessive Form 0
                  Parietal Foramina with Cleidocranial Dysplasia 10
                  Yunis-Varon syndrome 20
paths to the root