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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: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
 xref: NCI:C180842


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Congenital Microtia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP5 bone morphogenetic protein 5 ISO ClinVar Annotator: match by term: Microtia ClinVar PMID:25741868 NCBI chr 6:55,302,721...55,425,248
Ensembl chr 6:56,936,850...57,059,519 		JBrowse link
G HOXA2 homeobox A2 ISO DNA:missense mutation:cds:c.558C>A(p.Q186K)(human) RGD PMID:18394579 RGD:11553827 NCBI chr 7:27,745,138...27,747,129
Ensembl chr 7:27,344,469...27,346,789 		JBrowse link
G LMNA lamin A/C ISO ClinVar Annotator: match by term: Microtia ClinVar PMID:19589617 PMID:22918509 PMID:23183350 PMID:24033266 PMID:25741868 More... NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539 		JBrowse link
G PRKRA protein activator of interferon induced protein kinase EIF2AK2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25554729 NCBI chr2B:65,689,029...65,708,493
Ensembl chr2B:183,393,819...183,413,174 		JBrowse link
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGF3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: DEAFNESS WITH LAMM | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) OMIM
ClinVar		 PMID:17236138 PMID:18435799 PMID:18701883 PMID:19950373 PMID:21306635 More... NCBI chr11:64,905,658...64,915,175
Ensembl chr11:68,197,962...68,207,042 		JBrowse link
EVEN-PLUS SYNDROME term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HSPA9 heat shock protein family A (Hsp70) member 9 ISO ClinVar Annotator: match by term: EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS | ClinVar Annotator: match by term: Even-plus syndrome OMIM
ClinVar		 PMID:25741868 PMID:26598328 PMID:28492532 NCBI chr 5:133,934,859...133,955,048
Ensembl chr 5:140,064,207...140,084,551 		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 ISO OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805 MouseDO NCBI chr 6:55,302,721...55,425,248
Ensembl chr 6:56,936,850...57,059,519 		JBrowse link
G CDC45 cell division cycle 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195 		JBrowse link
G CDC6 cell division cycle 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:28492532 NCBI chr17:16,987,721...17,002,488
Ensembl chr17:17,211,681...17,225,972 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:11992493 PMID:21358632 PMID:22333897 PMID:23023959 PMID:24033266 More... NCBI chr16:69,516,728...69,522,419
Ensembl chr16:89,174,071...89,177,823 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31407851 PMID:31784481 PMID:37638758 NCBI chr21:19,944,692...19,956,140
Ensembl chr21:33,317,841...33,328,132 		JBrowse link
G GMNN geminin DNA replication inhibitor ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:11477602 PMID:14973488 PMID:26637980 NCBI chr 6:24,612,864...24,624,010
Ensembl chr 6:24,944,377...24,955,575 		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 6:51,816,615...51,837,404
Ensembl chr 6:53,085,231...53,105,344 		JBrowse link
G MCM7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr 7:92,128,037...92,136,976
Ensembl chr 7:105,561,591...105,570,720 		JBrowse link
G ORC1 origin recognition complex subunit 1 ISO ClinVar Annotator: match by term: EAR, PATELLA, SHORT STATURE SYNDROME | ClinVar Annotator: match by term: Meier-Gorlin syndrome | ClinVar Annotator: match by term: Microtia, absent patellae, micrognathia syndrome ClinVar PMID:819054 PMID:11477602 PMID:14564153 PMID:21358631 PMID:21358632 More... NCBI chr 1:51,630,344...51,666,327
Ensembl chr 1:53,238,377...53,273,653 		JBrowse link
G ORC4 origin recognition complex subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358631 PMID:21358632 NCBI chr2B:11,841,808...11,931,620
Ensembl chr2B:152,292,822...152,379,487 		JBrowse link
G ORC6 origin recognition complex subunit 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chr16:26,954,596...26,962,780
Ensembl chr16:45,846,747...45,854,836 		JBrowse link
G VPS35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chr16:26,924,901...26,954,443
Ensembl chr16:45,817,371...45,846,531 		JBrowse link
Meier-Gorlin syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DONSON DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 ClinVar PMID:25741868 PMID:28191891 PMID:28492532 PMID:28630177 NCBI chr21:19,944,692...19,956,140
Ensembl chr21:33,317,841...33,328,132 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 ClinVar PMID:7874170 PMID:11781872 PMID:12884424 PMID:20643727 PMID:23348274 More... NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G ORC1 origin recognition complex subunit 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 | ClinVar Annotator: match by term: ORC1-related condition OMIM
ClinVar		 PMID:819054 PMID:11477602 PMID:14564153 PMID:18414213 PMID:21358631 More... NCBI chr 1:51,630,344...51,666,327
Ensembl chr 1:53,238,377...53,273,653 		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 | ClinVar Annotator: match by term: ORC4-related condition OMIM
ClinVar		 PMID:11477602 PMID:18414213 PMID:21358631 PMID:21358632 PMID:22333897 More... NCBI chr2B:11,841,808...11,931,620
Ensembl chr2B:152,292,822...152,379,487 		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 | ClinVar Annotator: match by term: ORC6-related condition OMIM
ClinVar		 PMID:7710253 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr16:26,954,596...26,962,780
Ensembl chr16:45,846,747...45,854,836 		JBrowse link
G VPS35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 ClinVar PMID:25741868 NCBI chr16:26,924,901...26,954,443
Ensembl chr16:45,817,371...45,846,531 		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: CDT1-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 4 OMIM
ClinVar		 PMID:9536098 PMID:11477602 PMID:11992493 PMID:16199547 PMID:17576681 More... NCBI chr16:69,516,728...69,522,419
Ensembl chr16:89,174,071...89,177,823 		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: CDC6-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 5 OMIM
ClinVar		 PMID:11477602 PMID:18414213 PMID:21358632 PMID:25741868 PMID:28492532 More... NCBI chr17:16,987,721...17,002,488
Ensembl chr17:17,211,681...17,225,972 		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: GMNN-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 6 OMIM
ClinVar		 PMID:11477602 PMID:14973488 PMID:25741868 PMID:26637980 PMID:28492532 NCBI chr 6:24,612,864...24,624,010
Ensembl chr 6:24,944,377...24,955,575 		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: CDC45-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 7 OMIM
ClinVar		 PMID:25741868 PMID:27374770 PMID:28492532 PMID:29036220 PMID:30986546 More... NCBI chr22:2,239,040...2,279,807
Ensembl chr22:17,913,729...17,955,195 		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: MCM5-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 8 OMIM
ClinVar		 PMID:25741868 PMID:28198391 PMID:28492532 NCBI chr22:16,407,145...16,431,822
Ensembl chr22:34,249,831...34,274,423 		JBrowse link
Microtia, Hearing Impairment, and Cleft Palate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA1 homeobox A1 ISO ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate ClinVar PMID:25741868 NCBI chr 7:27,737,432...27,740,442
Ensembl chr 7:27,335,710...27,339,747 		JBrowse link
G HOXA2 homeobox A2 ISO ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate OMIM
ClinVar		 PMID:18394579 PMID:23775976 PMID:25691070 PMID:25741868 NCBI chr 7:27,745,138...27,747,129
Ensembl chr 7:27,344,469...27,346,789 		JBrowse link
Microtia-Anotia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA1 homeobox A1 ISO Microtia OMIA PMID:26035869 NCBI chr 7:27,737,432...27,740,442
Ensembl chr 7:27,335,710...27,339,747 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15838
    sensory system disease 7061
      auditory system disease 1012
        Congenital Microtia 20
          Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 1
          Diamond-Blackfan Anemia with Microtia and Cleft Palate 0
          EVEN-PLUS SYNDROME 1
          Isotretinoin Embryopathy Like Syndrome 0
          Mastocytosis, Cutaneous, with Short Stature, Conductive Hearing Loss and Microtia 0
          Meier-Gorlin syndrome + 14
          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 1
          hypertelorism, microtia, facial clefting syndrome 0
Path 2
Term Annotations click to browse term
  disease 15838
    disease of anatomical entity 15494
      nervous system disease 13588
        Neurologic Manifestations 10066
          sensory system disease 7061
            Otorhinolaryngologic Diseases 1738
              auditory system disease 1012
                Congenital Microtia 20
                  Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 1
                  Diamond-Blackfan Anemia with Microtia and Cleft Palate 0
                  EVEN-PLUS SYNDROME 1
                  Isotretinoin Embryopathy Like Syndrome 0
                  Mastocytosis, Cutaneous, with Short Stature, Conductive Hearing Loss and Microtia 0
                  Meier-Gorlin syndrome + 14
                  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 1
                  hypertelorism, microtia, facial clefting syndrome 0
paths to the root