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ONTOLOGY REPORT - ANNOTATIONS


Term:Congenital Microtia
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Accession:DOID:9001502 term browser browse the term
Definition:Malformation of external portion of EAR AURICLE.
Synonyms:exact_synonym: Anotia;   Anotias;   Congenital Microtias;   microtia;   microtias
 primary_id: MESH:D065817
 alt_id: RDO:0015947
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Microtia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa2 homeobox A2 JBrowse link 4 82,130,441 82,134,846 RGD:11553827
G Plxna3 plexin A3 JBrowse link X 156,363,400 156,379,433 RGD:8554872
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fgf3 fibroblast growth factor 3 JBrowse link 1 218,003,018 218,006,942 RGD:7240710
RGD:8554872
Diamond-Blackfan Anemia with Microtia and Cleft Palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G LOC100361854 ribosomal protein S26-like JBrowse link X 115,495,660 115,496,062 RGD:8554872
G Rps28 ribosomal protein S28 JBrowse link 7 18,682,071 18,683,440 RGD:8554872
G Tsr2 TSR2, ribosome maturation factor JBrowse link X 20,141,406 20,146,082 RGD:8554872
EVEN-PLUS SYNDROME term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hspa9 heat shock protein family A (Hsp70) member 9 JBrowse link 18 27,731,072 27,749,235 RGD:8554872
RGD:7240710
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
Microtia, Hearing Impairment, and Cleft Palate term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hoxa1 homeobox A1 JBrowse link 4 82,124,358 82,127,182 RGD:8554872
G Hoxa2 homeobox A2 JBrowse link 4 82,130,441 82,134,846 RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    sensory system disease 4684
      auditory system disease 683
        Congenital Microtia 18
          Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 1
          Diamond-Blackfan Anemia with Microtia and Cleft Palate 3
          EVEN-PLUS SYNDROME 1
          Isotretinoin Embryopathy Like Syndrome 0
          Mastocytosis, Cutaneous, with Short Stature, Conductive Hearing Loss and Microtia 0
          Meier-Gorlin syndrome + 10
          Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 0
          Microtia, Hearing Impairment, and Cleft Palate 2
          Microtia, Meatal Atresia and Conductive Deafness 0
          Microtia-Anotia 0
          hypertelorism, microtia, facial clefting syndrome 0
Path 2
Term Annotations click to browse term
  disease 15625
    disease of anatomical entity 14954
      nervous system disease 10224
        sensory system disease 4684
          Otorhinolaryngologic Diseases 1074
            auditory system disease 683
              Congenital Microtia 18
                Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 1
                Diamond-Blackfan Anemia with Microtia and Cleft Palate 3
                EVEN-PLUS SYNDROME 1
                Isotretinoin Embryopathy Like Syndrome 0
                Mastocytosis, Cutaneous, with Short Stature, Conductive Hearing Loss and Microtia 0
                Meier-Gorlin syndrome + 10
                Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma 0
                Microtia, Hearing Impairment, and Cleft Palate 2
                Microtia, Meatal Atresia and Conductive Deafness 0
                Microtia-Anotia 0
                hypertelorism, microtia, facial clefting syndrome 0
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.