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
Accession: DOID:9001502
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 .
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
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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
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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
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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
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
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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
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
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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
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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
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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
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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
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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
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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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
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
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