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isolated microphthalmia 2 - Ontology Report - Rat Genome Database

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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:isolated microphthalmia 2
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Accession:DOID:0060839 term browser browse the term
Definition:An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. (DO)
Synonyms:exact_synonym: MCOP2;   isolated clinical anophthalmia
 broad_synonym: VSX2-RELATED CONDITION
 primary_id: MESH:C566446
 alt_id: MIM:610093

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isolated microphthalmia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624734:6,595,827...6,678,139
Ensembl chrNW_004624734:6,595,814...6,678,081 		JBrowse link
G G VRK1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr24:74,686,102...74,770,496
Ensembl chr24:74,686,111...74,770,874 		JBrowse link
G P VRK1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 7:117,942,929...118,025,991
Ensembl chr 7:117,942,973...118,028,923 		JBrowse link
G S Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004936604:1,011,048...1,097,388
Ensembl chrNW_004936604:1,011,052...1,097,403 		JBrowse link
G D VRK1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:65,444,404...65,551,348
Ensembl chr 8:65,443,949...65,551,151 		JBrowse link
G B VRK1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:77,429,970...77,514,217
Ensembl chr14:96,756,397...96,831,954 		JBrowse link
G C Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955438:18,508,915...18,595,104
Ensembl chrNW_004955438:18,508,769...18,595,704 		JBrowse link
G R Vrk1 VRK serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:130,679,400...130,746,089
Ensembl chr 6:124,914,855...124,981,436 		JBrowse link
G M Vrk1 vaccinia related kinase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr12:105,976,398...106,044,578
Ensembl chr12:105,976,487...106,043,685
Ensembl chr12:105,976,487...106,043,685 		JBrowse link
G H VRK1 VRK serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: Isolated microphthalmia 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846 		JBrowse link
G N Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 | ClinVar Annotator: match by term: VSX2-related condition OMIM
ClinVar		 PMID:3378363 PMID:10932181 PMID:15257456 PMID:16199547 PMID:17661825 More... NCBI chrNW_004624734:27,342,668...27,363,372
Ensembl chrNW_004624734:27,344,221...27,363,372 		JBrowse link
G G VSX2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 | ClinVar Annotator: match by term: VSX2-related condition OMIM
ClinVar		 PMID:3378363 PMID:10932181 PMID:15257456 PMID:16199547 PMID:17661825 More... NCBI chr24:51,446,781...51,471,156
Ensembl chr24:51,447,714...51,469,345 		JBrowse link
G P VSX2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 | ClinVar Annotator: match by term: VSX2-related condition OMIM
ClinVar		 PMID:3378363 PMID:10932181 PMID:15257456 PMID:16199547 PMID:17661825 More... NCBI chr 7:97,532,021...97,551,072
Ensembl chr 7:97,531,860...97,552,033 		JBrowse link
G S Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 | ClinVar Annotator: match by term: VSX2-related condition OMIM
ClinVar		 PMID:3378363 PMID:10932181 PMID:15257456 PMID:16199547 PMID:17661825 More... NCBI chrNW_004936488:3,487,718...3,507,802
Ensembl chrNW_004936488:3,487,702...3,508,191 		JBrowse link
G D VSX2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 | ClinVar Annotator: match by term: VSX2-related condition OMIM
ClinVar		 PMID:3378363 PMID:10932181 PMID:15257456 PMID:16199547 PMID:17661825 More... NCBI chr 8:47,455,337...47,473,786
Ensembl chr 8:47,455,340...47,473,684 		JBrowse link
G B VSX2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 | ClinVar Annotator: match by term: VSX2-related condition OMIM
ClinVar		 PMID:3378363 PMID:10932181 PMID:15257456 PMID:16199547 PMID:17661825 More... NCBI chr14:54,797,734...54,821,081 JBrowse link
G C Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 2 | ClinVar Annotator: match by term: VSX2-related condition OMIM
ClinVar		 PMID:3378363 PMID:10932181 PMID:15257456 PMID:16199547 PMID:17661825 More... NCBI chrNW_004955523:1,192,035...1,207,949
Ensembl chrNW_004955523:1,193,686...1,210,641 		JBrowse link
G R Vsx2 visual system homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Isolated microphthalmia 2 | ClinVar Annotator: match by term: VSX2-related condition		 OMIM
CTD
ClinVar		 PMID:3378363 PMID:10932181 PMID:15257456 PMID:16199547 PMID:17661825 More... NCBI chr 6:109,932,943...109,972,005
Ensembl chr 6:104,217,230...104,240,018 		JBrowse link
G M Vsx2 visual system homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Isolated microphthalmia 2 | ClinVar Annotator: match by term: VSX2-related condition		 OMIM
CTD
ClinVar		 PMID:3378363 PMID:10932181 PMID:15257456 PMID:16199547 PMID:17661825 More... NCBI chr12:84,616,602...84,642,231
Ensembl chr12:84,616,536...84,642,231 		JBrowse link
G H VSX2 visual system homeobox 2 IAGP
EXP		 ClinVar Annotator: match by term: Isolated microphthalmia 2
ClinVar Annotator: match by term: Isolated microphthalmia 2 | ClinVar Annotator: match by term: VSX2-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3378363 PMID:10932181 PMID:15257456 PMID:16199547 PMID:17661825 More... NCBI chr14:74,239,449...74,262,738
Ensembl chr14:74,239,449...74,262,738 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    sensory system disease 89068
      eye disease 42489
        microphthalmia 2268
          isolated microphthalmia 1043
            isolated microphthalmia 2 20
Path 2
Term Annotations click to browse term
  disease 288179
    Pathological Conditions, Signs and Symptoms 178736
      Signs and Symptoms 137100
        Neurologic Manifestations 126178
          sensory system disease 89068
            eye disease 42489
              Eye Abnormalities 8216
                microphthalmia 2268
                  isolated microphthalmia 1043
                    isolated microphthalmia 2 20
paths to the root