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
Accession: DOID:0060842
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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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ALPK2
alpha kinase 2
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 3
ClinVar
PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532 More...
NCBI chr18:51,872,394...52,020,137
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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 PMID:26686525 PMID:28492532 More...
NCBI chr18:51,035,483...51,187,461
Ensembl chr18:54,370,447...54,522,196
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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 PMID:26686525 PMID:28492532 More...
NCBI chr18:52,819,591...53,087,772
Ensembl chr18:56,149,036...56,412,222
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CPLX4
complexin 4
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 3
ClinVar
PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532 More...
NCBI chr18:52,691,095...52,713,697
Ensembl chr18:55,998,958...56,040,108
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FECH
ferrochelatase
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 3
ClinVar
PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532 More...
NCBI chr18:50,934,520...50,977,132
Ensembl chr18:54,273,527...54,312,378
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GRP
gastrin releasing peptide
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 3
ClinVar
PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532 More...
NCBI chr18:52,614,169...52,626,427
Ensembl chr18:55,942,263...55,953,188
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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 PMID:26686525 PMID:28492532 More...
NCBI chr18:52,722,735...52,754,013
Ensembl chr18:56,049,292...56,080,533
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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 PMID:26686525 PMID:28492532 More...
NCBI chr18:53,286,590...53,290,913
Ensembl chr18:56,611,098...56,615,449
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MALT1
MALT1 paracaspase
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 3
ClinVar
PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532 More...
NCBI chr18:52,060,878...52,141,985
Ensembl chr18:55,395,462...55,473,574
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MC4R
melanocortin 4 receptor
ISO
ClinVar Annotator: match by term: Isolated microphthalmia 3
ClinVar
PMID:14662654 PMID:18783408 PMID:19935664 PMID:21778431 PMID:24033328 PMID:26686525 PMID:28492532 More...
NCBI chr18:53,744,172...53,747,282
Ensembl chr18:57,069,259...57,070,257
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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 PMID:26686525 PMID:28492532 More...
NCBI chr18:50,991,047...51,011,628
Ensembl chr18:54,326,053...54,346,454
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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 PMID:26686525 PMID:28492532 More...
NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423
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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 PMID:21778431 PMID:22736936 PMID:24033328 PMID:25741868 PMID:26686525 PMID:28492532 PMID:30811539 More...
NCBI chr18:52,664,243...52,669,177
Ensembl chr18:55,990,984...55,995,469
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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 PMID:26686525 PMID:28492532 More...
NCBI chr18:52,534,718...52,553,726
Ensembl chr18:55,860,471...55,880,060
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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 PMID:26686525 PMID:28492532 More...
NCBI chr18:52,257,241...52,380,431
Ensembl chr18:55,640,924...55,706,365
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