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ONTOLOGY REPORT - ANNOTATIONS


Term:Micrognathism
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Accession:DOID:9005616 term browser browse the term
Definition:Abnormally small jaw.
Synonyms:exact_synonym: Congenital Micrognathia;   Congenital Micrognathias;   Congenital Micrognathism;   Congenital Micrognathisms;   Mandibular Micrognathia;   Mandibular Micrognathias;   Mandibular Micrognathism;   Mandibular Micrognathisms;   Micrognathia;   Micrognathias;   Micrognathisms
 primary_id: MESH:D008844;   RDO:0000567
For additional species annotation, visit the Alliance of Genome Resources.


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Micrognathism term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 JBrowse link 8 5,217,054 5,436,969 RGD:8554872
G Ep300 E1A binding protein p300 JBrowse link 7 122,818,194 122,889,055 RGD:8554872
G Mecp2 methyl CpG binding protein 2 JBrowse link X 156,650,389 156,713,813 RGD:8554872
G Nog noggin JBrowse link 10 76,811,759 76,813,386 RGD:12801465
G RGD1307100 similar to RIKEN cDNA D630029K19 JBrowse link 2 123,555,742 123,766,675 RGD:8554872
G Rps6ka3 ribosomal protein S6 kinase A3 JBrowse link X 37,469,736 37,576,055 RGD:8554872
G Satb2 SATB homeobox 2 JBrowse link 9 63,456,877 63,642,193 RGD:8554872
G Sf3b4 splicing factor 3b, subunit 4 JBrowse link 2 198,312,428 198,317,180 RGD:8554872
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 6 46,629,967 46,631,988 RGD:8554872
RGD:7240710
cerebral cavernous malformation 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ccm2 CCM2 scaffold protein JBrowse link 14 86,812,728 86,859,408 RGD:7240710
RGD:8554872
G Nacad NAC alpha domain containing JBrowse link 14 86,860,607 86,868,605 RGD:8554872
cerebral cavernous malformation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pdcd10 programmed cell death 10 JBrowse link 2 173,966,701 174,012,730 RGD:7240710
RGD:8554872
cerebrocostomandibular syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 JBrowse link 3 122,696,125 122,703,734 RGD:8554872
RGD:7240710
Coffin-Siris syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:8554872
RGD:13592920
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
RGD:11526783
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:8554872
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:8554872
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 JBrowse link 20 13,679,955 13,702,821 RGD:8554872
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 JBrowse link 10 87,116,827 87,138,890 RGD:8554872
Coffin-Siris syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1b AT-rich interaction domain 1B JBrowse link 1 45,923,119 46,232,301 RGD:8554872
RGD:7240710
G Dpf2 double PHD fingers 2 JBrowse link 1 221,253,764 221,269,043 RGD:8554872
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 JBrowse link 1 244,615,811 244,783,736 RGD:8554872
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 JBrowse link 8 22,648,323 22,739,468 RGD:8554872
Coffin-Siris Syndrome 10 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sox4 SRY-box transcription factor 4 JBrowse link 17 37,615,022 37,619,728 RGD:7240710
RGD:8554872
Coffin-Siris syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid1a AT-rich interaction domain 1A JBrowse link 5 151,904,687 151,977,973 RGD:7240710
RGD:8554872
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 20 13,679,955 13,702,821 RGD:7240710
RGD:8554872
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 8 22,648,323 22,739,468 RGD:7240710
RGD:8554872
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 10 87,116,827 87,138,890 RGD:8554872
RGD:7240710
Coffin-Siris syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Arid2 AT-rich interaction domain 2 JBrowse link 7 137,680,564 137,798,329 RGD:8554872
RGD:7240710
Coffin-Siris Syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dpf2 double PHD fingers 2 JBrowse link 1 221,253,764 221,269,043 RGD:8554872
RGD:7240710
Coffin-Siris Syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 JBrowse link 7 2,875,898 2,905,463 RGD:7240710
RGD:8554872
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Igbp1 immunoglobulin binding protein 1 JBrowse link X 70,322,764 70,345,005 RGD:7240710
RGD:8554872
Meier-Gorlin syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bmp5 bone morphogenetic protein 5 JBrowse link 8 82,669,466 82,950,273 RGD:13592920
G Cdc45 cell division cycle 45 JBrowse link 11 86,328,785 86,354,099 RGD:11554173
G Cdc6 cell division cycle 6 JBrowse link 10 86,819,477 86,833,301 RGD:11554173
RGD:8554872
G Cdt1 chromatin licensing and DNA replication factor 1 JBrowse link 19 55,381,565 55,386,511 RGD:11554173
RGD:8554872
G Gmnn geminin, DNA replication inhibitor JBrowse link 17 42,302,523 42,310,783 RGD:8554872
RGD:11554173
G Orc1 origin recognition complex, subunit 1 JBrowse link 5 128,186,651 128,212,901 RGD:8554872
RGD:11554173
G Orc4 origin recognition complex, subunit 4 JBrowse link 3 33,034,913 33,075,833 RGD:11554173
G Orc6 origin recognition complex, subunit 6 JBrowse link 19 27,457,541 27,464,804 RGD:11554173
RGD:8554872
G Vps35 VPS35 retromer complex component JBrowse link 19 27,464,937 27,500,636 RGD:8554872
Meier-Gorlin syndrome 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Orc1 origin recognition complex, subunit 1 JBrowse link 5 128,186,651 128,212,901 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Orc4 origin recognition complex, subunit 4 JBrowse link 3 33,034,913 33,075,833 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Orc6 origin recognition complex, subunit 6 JBrowse link 19 27,457,541 27,464,804 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdt1 chromatin licensing and DNA replication factor 1 JBrowse link 19 55,381,565 55,386,511 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc6 cell division cycle 6 JBrowse link 10 86,819,477 86,833,301 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gmnn geminin, DNA replication inhibitor JBrowse link 17 42,302,523 42,310,783 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cdc45 cell division cycle 45 JBrowse link 11 86,328,785 86,354,099 RGD:8554872
RGD:7240710
Meier-Gorlin syndrome 8 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcm5 minichromosome maintenance complex component 5 JBrowse link 19 14,523,482 14,561,281 RGD:8554872
RGD:7240710
postaxial acrofacial dysostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dhodh dihydroorotate dehydrogenase (quinone) JBrowse link 19 42,066,103 42,087,906 RGD:7240710
RGD:8554872
split hand-foot malformation 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fbxw4 F-box and WD repeat domain containing 4 JBrowse link 1 265,318,526 265,420,503 RGD:7240710
Yunis-Varon syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fig4 FIG4 phosphoinositide 5-phosphatase JBrowse link 20 45,922,806 46,044,754 RGD:7240710
RGD:8554872
G Vac14 VAC14 component of PIKFYVE complex JBrowse link 19 40,927,007 41,029,206 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    Stomatognathic Diseases 867
      Jaw Diseases 260
        Jaw Abnormalities 205
          Micrognathism 38
            Baetz-Greenwalt syndrome 0
            Bird Headed Dwarfism Montreal Type 0
            Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia 0
            Coffin-Siris syndrome + 11
            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 + 10
            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 1
            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 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        Congenital Abnormalities 3574
          Musculoskeletal Abnormalities 1294
            Craniofacial Abnormalities 1039
              Maxillofacial Abnormalities 208
                Jaw Abnormalities 205
                  Micrognathism 38
                    Baetz-Greenwalt syndrome 0
                    Bird Headed Dwarfism Montreal Type 0
                    Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia 0
                    Coffin-Siris syndrome + 11
                    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 + 10
                    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 1
                    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

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.