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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 3
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Accession:DOID:0060842 term browser browse the term
Definition:An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. (DO)
Synonyms:exact_synonym: MCOP3;   RAX-RELATED CONDITION
 primary_id: MESH:C567025
 alt_id: MIM:611038



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isolated microphthalmia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALPK2 alpha kinase 2 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:51,872,394...52,020,137 JBrowse link
G ATP8B1 ATPase phospholipid transporting 8B1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:51,035,483...51,187,461
Ensembl chr18:54,370,447...54,522,196
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:52,819,591...53,087,772
Ensembl chr18:56,149,036...56,412,222
JBrowse link
G CPLX4 complexin 4 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:52,691,095...52,713,697
Ensembl chr18:55,998,958...56,040,108
JBrowse link
G FECH ferrochelatase ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:50,934,520...50,977,132
Ensembl chr18:54,273,527...54,312,378
JBrowse link
G GRP gastrin releasing peptide ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:52,614,169...52,626,427
Ensembl chr18:55,942,263...55,953,188
JBrowse link
G LMAN1 lectin, mannose binding 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:52,722,735...52,754,013
Ensembl chr18:56,049,292...56,080,533
JBrowse link
G LOC100979315 phorbol-12-myristate-13-acetate-induced protein 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:53,286,590...53,290,913
Ensembl chr18:56,611,098...56,615,449
JBrowse link
G MALT1 MALT1 paracaspase ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:52,060,878...52,141,985
Ensembl chr18:55,395,462...55,473,574
JBrowse link
G MC4R melanocortin 4 receptor ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257
JBrowse link
G NARS1 asparaginyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:50,991,047...51,011,628
Ensembl chr18:54,326,053...54,346,454
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423
JBrowse link
G RAX retina and anterior neural fold homeobox ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 | ClinVar Annotator: match by term: RAX-related condition OMIM
ClinVar
PMID:14662654 PMID:18783408 PMID:19158959 PMID:19935664 PMID:20494911 More... NCBI chr18:52,664,243...52,669,177
Ensembl chr18:55,990,984...55,995,469
JBrowse link
G SEC11C SEC11 homolog C, signal peptidase complex subunit ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:52,534,718...52,553,726
Ensembl chr18:55,860,471...55,880,060
JBrowse link
G ZNF532 zinc finger protein 532 ISO ClinVar Annotator: match by term: Isolated microphthalmia 3 ClinVar PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 More... NCBI chr18:52,257,241...52,380,431
Ensembl chr18:55,640,924...55,706,365
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15834
    sensory system disease 7065
      eye disease 3621
        microphthalmia 218
          isolated microphthalmia 102
            isolated microphthalmia 3 15
Path 2
Term Annotations click to browse term
  disease 15834
    Pathological Conditions, Signs and Symptoms 12336
      Signs and Symptoms 10382
        Neurologic Manifestations 10059
          sensory system disease 7065
            eye disease 3621
              Eye Abnormalities 807
                microphthalmia 218
                  isolated microphthalmia 102
                    isolated microphthalmia 3 15
paths to the root