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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
For additional species annotation, visit the Alliance of Genome Resources.

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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 4:82,130,441...82,134,846
Ensembl chr 4:82,131,329...82,133,605 		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: Deafness with labyrinthine aplasia microtia and microdontia (LAMM)
ClinVar Annotator: match by OMIM:610706		 OMIM
ClinVar		 PMID:17236138 PMID:18435799 PMID:18701883 PMID:19950373 PMID:21306635 PMID:21480479 PMID:25741868 NCBI chr 1:218,003,018...218,006,942
Ensembl chr 1:218,003,018...218,006,942 		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: EVEN-PLUS SYNDROME
ClinVar Annotator: match by term: Even-plus syndrome		 ClinVar
OMIM		 PMID:25741868 PMID:26598328 NCBI chr18:27,731,072...27,749,235
Ensembl chr18:27,731,072...27,749,235 		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 8:82,669,466...82,950,273
Ensembl chr 8:82,878,941...82,950,273 		JBrowse link
G Cdc45 cell division cycle 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr11:86,328,785...86,354,099
Ensembl chr11:86,329,012...86,358,453 		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 chr10:86,819,477...86,833,301
Ensembl chr10:86,819,472...86,833,402 		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 PMID:25741868 NCBI chr19:55,381,565...55,386,511
Ensembl chr19:55,381,565...55,386,511 		JBrowse link
G Gmnn geminin, DNA replication inhibitor ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:11477602 PMID:14973488 PMID:26637980 NCBI chr17:42,302,523...42,310,783
Ensembl chr17:42,302,540...42,310,783 		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 PMID:21358633 PMID:22333897 PMID:22855792 PMID:23023959 PMID:23516378 PMID:24033266 PMID:25689043 NCBI chr 5:128,186,651...128,212,901
Ensembl chr 5:128,190,708...128,210,445 		JBrowse link
G Orc4 origin recognition complex, subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358631 PMID:21358632 NCBI chr 3:33,034,913...33,075,833
Ensembl chr 3:33,037,034...33,075,685 		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 chr19:27,457,541...27,464,804
Ensembl chr19:27,457,474...27,464,805 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chr19:27,464,937...27,500,636
Ensembl chr19:27,464,937...27,500,636 		JBrowse link
Meier-Gorlin syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orc1 origin recognition complex, subunit 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 ClinVar
OMIM		 PMID:819054 PMID:11477602 PMID:14564153 PMID:18414213 PMID:21358631 PMID:21358632 PMID:21358633 PMID:22333897 PMID:22689986 PMID:22855792 PMID:23023959 PMID:23516378 PMID:24033266 PMID:25689043 PMID:25741868 PMID:28492532 NCBI chr 5:128,186,651...128,212,901
Ensembl chr 5:128,190,708...128,210,445 		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
OMIM		 PMID:11477602 PMID:18414213 PMID:21358631 PMID:21358632 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 3:33,034,913...33,075,833
Ensembl chr 3:33,037,034...33,075,685 		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
OMIM		 PMID:7710253 PMID:18414213 PMID:21358632 PMID:22333897 PMID:25741868 NCBI chr19:27,457,541...27,464,804
Ensembl chr19:27,457,474...27,464,805 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 ClinVar PMID:25741868 NCBI chr19:27,464,937...27,500,636
Ensembl chr19:27,464,937...27,500,636 		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 ClinVar
OMIM		 PMID:11477602 PMID:11992493 PMID:18414213 PMID:21358631 PMID:21358632 PMID:22333897 PMID:23023959 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr19:55,381,565...55,386,511
Ensembl chr19:55,381,565...55,386,511 		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 ClinVar
OMIM		 PMID:11477602 PMID:18414213 PMID:21358632 PMID:25741868 PMID:28492532 NCBI chr10:86,819,477...86,833,301
Ensembl chr10:86,819,472...86,833,402 		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 ClinVar
OMIM		 PMID:11477602 PMID:14973488 PMID:26637980 NCBI chr17:42,302,523...42,310,783
Ensembl chr17:42,302,540...42,310,783 		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 ClinVar
OMIM		 PMID:25741868 PMID:27374770 NCBI chr11:86,328,785...86,354,099
Ensembl chr11:86,329,012...86,358,453 		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 ClinVar
OMIM		 PMID:28198391 NCBI chr19:14,523,482...14,561,281
Ensembl chr19:14,523,554...14,561,278 		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 NCBI chr 4:82,124,358...82,127,182
Ensembl chr 4:82,125,406...82,127,066 		JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate
ClinVar Annotator: match by OMIM:612290
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:18394579 PMID:23775976 PMID:24239177 PMID:25691070 NCBI chr 4:82,130,441...82,134,846
Ensembl chr 4:82,131,329...82,133,605 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    sensory system disease 5245
      auditory system disease 741
        Congenital Microtia 14
          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 + 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 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        sensory system disease 5245
          Otorhinolaryngologic Diseases 1154
            auditory system disease 741
              Congenital Microtia 14
                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 + 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