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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 Hoxa2 homeobox A2 ISO DNA:missense mutation:cds:c.558C>A(p.Q186K)(human) RGD PMID:18394579 RGD:11553827 NCBI chr 4:81,262,668...81,266,970
Ensembl chr 4:81,262,768...81,265,044 		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 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Prkra protein activator of interferon induced protein kinase EIF2AK2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25554729 NCBI chr 3:61,575,447...61,594,393
Ensembl chr 3:61,575,447...61,594,347 		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 labyrinthine aplasia microtia and microdontia (LAMM)
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:17236138 PMID:18435799 PMID:19950373 PMID:21306635 PMID:21480479 More... NCBI chr 1:200,001,162...200,005,539
Ensembl chr 1:200,001,261...200,005,187 		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 chr18:26,536,131...26,554,294
Ensembl chr18:26,535,798...26,554,292 		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 PMID:28492532 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:28492532 PMID:31407851 PMID:31784481 PMID:37638758 NCBI chr11:30,919,834...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: EAR, PATELLA, SHORT STATURE SYNDROME | ClinVar Annotator: match by term: Meier-Gorlin syndrome | ClinVar Annotator: match by term: Microtia, absent patellae, micrognathia 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 Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 ClinVar PMID:25741868 NCBI chr11:30,919,834...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 | ClinVar Annotator: match by term: ORC1-related condition 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:22333897 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:16199547 PMID:17576681 PMID:18414213 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 PMID:29036220 PMID:30986546 More... 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
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 4:81,255,814...81,258,587
Ensembl chr 4:81,255,883...81,258,504 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18394579 PMID:23775976 PMID:24239177 PMID:25691070 PMID:25741868 NCBI chr 4:81,262,668...81,266,970
Ensembl chr 4:81,262,768...81,265,044 		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 4:81,255,814...81,258,587
Ensembl chr 4:81,255,883...81,258,504 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19051
    sensory system disease 7253
      auditory system disease 1052
        Congenital Microtia 19
          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 + 13
          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 19051
    disease of anatomical entity 18384
      nervous system disease 14258
        Neurologic Manifestations 10339
          sensory system disease 7253
            Otorhinolaryngologic Diseases 1790
              auditory system disease 1052
                Congenital Microtia 19
                  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 + 13
                  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