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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:Micrognathism
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Accession:DOID:9005616 term browser browse the term
Definition:Abnormally small jaw.
Synonyms:exact_synonym: Congenital Micrognathia;   Congenital Micrognathism;   Congenital Micrognathisms;   Mandibular Micrognathia;   Mandibular Micrognathias;   Mandibular Micrognathism;   Mandibular Micrognathisms;   Micrognathia;   Micrognathias;   congenital micrognathias;   micrognathisms
 primary_id: MESH:D008844
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Micrognathism term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:22608503 PMID:22610116 PMID:25741868 PMID:26871653 PMID:28492532 NCBI chr 4:175,531,854...175,655,849
Ensembl chr 4:175,532,547...175,655,356
JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 8:4,189,257...4,412,183
Ensembl chr 8:4,189,257...4,412,183
JBrowse link
G Lemd2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 PMID:30905398 NCBI chr20:5,282,397...5,296,621
Ensembl chr20:5,282,397...5,296,626
JBrowse link
G Mecp2 methyl CpG binding protein 2 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 More... NCBI chr  X:151,781,177...151,844,687
Ensembl chr  X:151,789,930...151,844,689
JBrowse link
G Nog noggin ISO DNA:SNP:rs1348322(human) RGD PMID:20645637 RGD:12801465 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 1:156,591,540...156,618,116
Ensembl chr 1:156,591,615...156,618,114
JBrowse link
G Pitx1 paired-like homeodomain 1 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr17:8,794,134...8,800,292
Ensembl chr17:8,794,134...8,800,291
JBrowse link
G Sf3b4 splicing factor 3B subunit 4 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 2:183,732,791...183,737,545
Ensembl chr 2:183,732,754...183,737,959
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 OMIM
ClinVar
PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More... NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116
JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr14:81,465,299...81,473,866
Ensembl chr14:81,465,299...81,473,781
JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 OMIM
ClinVar
PMID:9536098 PMID:15543491 PMID:16329096 PMID:17576681 PMID:18060436 More... NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018
JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar PMID:15543491 PMID:18300272 PMID:23801932 PMID:28492532 NCBI chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135
JBrowse link
cerebrocostomandibular syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome
DNA:missense mutations:CDS:multiple (human)
ClinVar
OMIM
RGD
PMID:25047197 PMID:25504470 PMID:26240113 PMID:26971886 PMID:26971886 RGD:155641254 NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339
JBrowse link
Coffin-Siris syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22426308 PMID:25741868 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome
CTD
ClinVar
RGD
PMID:18414213 PMID:22426308 PMID:22426309 PMID:24033266 PMID:25741868 More... RGD:11526783 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G Kdm8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 1:180,013,969...180,028,829
Ensembl chr 1:180,020,656...180,028,841
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:18414213 PMID:22426308 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:9536098 PMID:17576681 PMID:18414213 PMID:21280140 PMID:22426308 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:22426308 PMID:28492532 NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22426308 NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
JBrowse link
G Sox11 SRY-box transcription factor 11 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
JBrowse link
Coffin-Siris syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar PMID:22426308 PMID:25741868 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12
OMIM
ClinVar
PMID:10361086 PMID:15057123 PMID:18414213 PMID:22405089 PMID:22426308 More... NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493
JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684
JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:21280140 PMID:24728327 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
Coffin-Siris syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 10 OMIM
ClinVar
PMID:25741868 PMID:30661772 NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665
JBrowse link
Coffin-Siris syndrome 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 11 OMIM
ClinVar
PMID:25741868 PMID:30879640 NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323
JBrowse link
Coffin-Siris syndrome 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicra BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 12 OMIM
ClinVar
PMID:25741868 PMID:25741870 PMID:33232675 NCBI chr 1:76,661,897...76,736,146
Ensembl chr 1:76,661,897...76,737,157
JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847
JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar
PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564
JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313
JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027
JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628
JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 OMIM
ClinVar
PMID:9536098 PMID:11161377 PMID:17576681 PMID:22426308 PMID:22726846 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620
JBrowse link
Coffin-Siris syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy OMIM
ClinVar
PMID:9536098 PMID:10601012 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975
JBrowse link
Coffin-Siris syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 5 OMIM
ClinVar
PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989
JBrowse link
Coffin-Siris syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 6 OMIM
ClinVar
PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More... NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512
JBrowse link
G Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 6 ClinVar PMID:25741868 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884
JBrowse link
Coffin-Siris syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 7 OMIM
ClinVar
PMID:25741868 PMID:29429572 PMID:31207137 NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983
JBrowse link
Coffin-Siris syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition OMIM
ClinVar
PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:30580808 NCBI chr 7:881,844...910,090
Ensembl chr 7:881,421...909,978
JBrowse link
Coffin-Siris syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 9 OMIM
ClinVar
PMID:24886874 PMID:25741868 PMID:31292255 PMID:32860008 NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354
JBrowse link
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igbp1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome OMIM
ClinVar
PMID:25741868 NCBI chr  X:65,582,832...65,605,078
Ensembl chr  X:65,582,821...65,606,049
JBrowse link
Meier-Gorlin syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp5 bone morphogenetic protein 5 ISS OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805 MouseDO NCBI chr 8:76,517,164...76,639,925
Ensembl chr 8:76,517,164...76,639,925
JBrowse link
G Cdc45 cell division cycle 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
JBrowse link
G Cdc6 cell division cycle 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD
ClinVar
PMID:21358632 NCBI chr10:83,864,189...83,878,011
Ensembl chr10:83,864,638...83,878,011
JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD
ClinVar
PMID:11992493 PMID:21358632 PMID:22333897 PMID:23023959 PMID:24033266 More... NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:31784481 NCBI chr11:30,911,616...30,933,150
Ensembl chr11:30,923,239...30,932,889
JBrowse link
G Gmnn geminin, DNA replication inhibitor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD
ClinVar
PMID:11477602 PMID:14973488 PMID:26637980 NCBI chr17:40,301,771...40,310,054
Ensembl chr17:40,301,808...40,310,054
JBrowse link
G Mcm3 minichromosome maintenance complex component 3 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr 9:23,219,169...23,237,314
Ensembl chr 9:23,219,169...23,237,314
JBrowse link
G Mcm7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr12:17,042,207...17,049,470
Ensembl chr12:17,042,212...17,050,063
JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD
ClinVar
PMID:819054 PMID:11477602 PMID:14564153 PMID:21358631 PMID:21358632 More... NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375
JBrowse link
G Orc4 origin recognition complex, subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358631 PMID:21358632 NCBI chr 3:33,290,844...33,334,022
Ensembl chr 3:33,294,355...33,333,824
JBrowse link
G Orc6 origin recognition complex, subunit 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD
ClinVar
PMID:21358632 PMID:25741868 NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662
JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618
JBrowse link
Meier-Gorlin syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 ClinVar PMID:25741868 PMID:28492532 PMID:31474763 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 ClinVar PMID:25741868 NCBI chr11:30,911,616...30,933,150
Ensembl chr11:30,923,239...30,932,889
JBrowse link
G Orc1 origin recognition complex, subunit 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 OMIM
ClinVar
PMID:819054 PMID:11477602 PMID:14564153 PMID:18414213 PMID:21358631 More... NCBI chr 5:123,324,273...123,348,375
Ensembl chr 5:123,324,315...123,348,375
JBrowse link
Meier-Gorlin syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orc4 origin recognition complex, subunit 4 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 2 OMIM
ClinVar
PMID:11477602 PMID:18414213 PMID:21358631 PMID:21358632 PMID:24033266 More... NCBI chr 3:33,290,844...33,334,022
Ensembl chr 3:33,294,355...33,333,824
JBrowse link
Meier-Gorlin syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orc6 origin recognition complex, subunit 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 OMIM
ClinVar
PMID:7710253 PMID:9536098 PMID:17576681 PMID:18414213 PMID:21358632 More... NCBI chr19:21,757,867...21,765,638
Ensembl chr19:21,757,866...21,765,662
JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 ClinVar PMID:25741868 NCBI chr19:21,765,771...21,801,620
Ensembl chr19:21,765,749...21,801,618
JBrowse link
Meier-Gorlin syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 4 OMIM
ClinVar
PMID:11477602 PMID:11992493 PMID:16199547 PMID:18414213 PMID:21358631 More... NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659
JBrowse link
Meier-Gorlin syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc6 cell division cycle 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 5 OMIM
ClinVar
PMID:11477602 PMID:18414213 PMID:21358632 PMID:25741868 PMID:28492532 NCBI chr10:83,864,189...83,878,011
Ensembl chr10:83,864,638...83,878,011
JBrowse link
Meier-Gorlin syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmnn geminin, DNA replication inhibitor ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 6 OMIM
ClinVar
PMID:11477602 PMID:14973488 PMID:25741868 PMID:26637980 NCBI chr17:40,301,771...40,310,054
Ensembl chr17:40,301,808...40,310,054
JBrowse link
Meier-Gorlin syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 7 OMIM
ClinVar
PMID:25741868 PMID:27374770 PMID:28492532 NCBI chr11:82,185,427...82,210,630
Ensembl chr11:82,185,473...82,210,619
JBrowse link
Meier-Gorlin syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm5 minichromosome maintenance complex component 5 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 8 OMIM
ClinVar
PMID:25741868 PMID:28198391 PMID:28492532 NCBI chr19:13,483,030...13,504,389
Ensembl chr19:13,483,066...13,504,389
JBrowse link
postaxial acrofacial dysostosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhodh dihydroorotate dehydrogenase (quinone) ISO ClinVar Annotator: match by term: Miller syndrome OMIM
ClinVar
PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 More... NCBI chr19:37,551,858...37,573,327
Ensembl chr19:37,558,177...37,591,654
JBrowse link
split hand-foot malformation 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxw4 F-box and WD repeat domain containing 4 ISO ClinVar Annotator: match by term: Split hand-foot malformation 3 ClinVar
OMIM
PMID:28492532 NCBI chr 1:244,426,892...244,514,188
Ensembl chr 1:244,426,896...244,514,163
JBrowse link
Yunis-Varon syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Yunis-Varon syndrome OMIM
ClinVar
PMID:2319578 PMID:7496176 PMID:9536098 PMID:17572665 PMID:17576681 More... NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844
JBrowse link
G Vac14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar NCBI chr19:38,590,569...38,691,911
Ensembl chr19:38,590,569...38,691,909
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18215
    Stomatognathic Diseases 1195
      Jaw Diseases 355
        Jaw Abnormalities 242
          Micrognathism 51
            Baetz-Greenwalt Syndrome 0
            Bird Headed Dwarfism Montreal Type 0
            Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia 0
            Coffin-Siris syndrome + 19
            Crumpled Helices and Small Mouth 0
            Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 0
            Genito Palato Cardiac Syndrome 0
            Ho Kaufman Mcalister Syndrome 0
            Meier-Gorlin syndrome + 13
            Milner Khallouf Gibson Syndrome 0
            Multiple Epiphyseal Dysplasia with Robin Phenotype 0
            Schweitzer Kemink Graham Syndrome 0
            Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 0
            Yunis-Varon syndrome 2
            cerebral cavernous malformation 2 2
            cerebral cavernous malformation 3 2
            cerebrocostomandibular syndrome 1
            corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
            postaxial acrofacial dysostosis 1
            split hand-foot malformation 3 1
Path 2
Term Annotations click to browse term
  disease 18215
    Developmental Disease 13068
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11804
        Congenital Abnormalities 6810
          Musculoskeletal Abnormalities 2818
            Craniofacial Abnormalities 2387
              Maxillofacial Abnormalities 289
                Jaw Abnormalities 242
                  Micrognathism 51
                    Baetz-Greenwalt Syndrome 0
                    Bird Headed Dwarfism Montreal Type 0
                    Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia 0
                    Coffin-Siris syndrome + 19
                    Crumpled Helices and Small Mouth 0
                    Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia 0
                    Genito Palato Cardiac Syndrome 0
                    Ho Kaufman Mcalister Syndrome 0
                    Meier-Gorlin syndrome + 13
                    Milner Khallouf Gibson Syndrome 0
                    Multiple Epiphyseal Dysplasia with Robin Phenotype 0
                    Schweitzer Kemink Graham Syndrome 0
                    Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet 0
                    Yunis-Varon syndrome 2
                    cerebral cavernous malformation 2 2
                    cerebral cavernous malformation 3 2
                    cerebrocostomandibular syndrome 1
                    corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 1
                    postaxial acrofacial dysostosis 1
                    split hand-foot malformation 3 1
paths to the root