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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:syndromic microphthalmia 5
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Accession:DOID:0111806 term browser browse the term
Definition:A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in OTX2 on chromosome 14q22.3. (DO)
Synonyms:exact_synonym: ANOPHTHALMIA-MICROPHTHALMIA SYNDROME;   MCOPS5;   MCOPS5 RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION,;   OTX2-RELATED SYNDROMIC MICROPHTHALMIA;   syndromic microphthalmia type 5;   syndromic microphthalmia/anophthalmia due to OTX2 mutation
 narrow_synonym: early-onset retinal dystrophy and pituitary dysfunction
 primary_id: MESH:C566441
 alt_id: OMIM:610125
 xref: GARD:3692;   ORDO:178364
For additional species annotation, visit the Alliance of Genome Resources.


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syndromic microphthalmia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elp4 elongator acetyltransferase complex subunit 4 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar NCBI chr 3:95,733,810...95,954,987 JBrowse link
G Otx2 orthodenticle homeobox 2 ISO ClinVar Annotator: match by OMIM:610125
ClinVar Annotator: match by term: Syndromic microphthalmia type 5
ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome
ClinVar Annotator: match by term: OTX2-Related Syndromic Microphthalmia
ClinVar Annotator: match by term: Microphthalmia syndromic 5
ClinVar
OMIM
PMID:15846561 PMID:16607563 PMID:17541950 PMID:18628516 PMID:18781617 PMID:19956411 PMID:19965921 PMID:20396904 PMID:22577225 PMID:22715480 PMID:24033328 PMID:24167467 PMID:25293953 PMID:25326635 PMID:25741868 PMID:28492532 NCBI chr15:25,500,037...25,511,619
Ensembl chr15:25,502,019...25,505,691
JBrowse link
G Pax6 paired box 6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:9727514 PMID:12868034 PMID:15086958 PMID:16407227 PMID:17417613 PMID:18776953 PMID:25741868 PMID:28492532 NCBI chr 3:95,700,241...95,728,682
Ensembl chr 3:95,707,386...95,728,624
JBrowse link
G Six6 SIX homeobox 6 ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:24875647 PMID:25741868 PMID:28492532 NCBI chr 6:95,816,749...95,821,729
Ensembl chr 6:95,816,749...95,821,729
JBrowse link
G Wnt7b Wnt family member 7B ISO ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar PMID:25741868 NCBI chr 7:126,423,418...126,465,724
Ensembl chr 7:126,420,656...126,465,723
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    sensory system disease 5176
      eye disease 2591
        microphthalmia 95
          syndromic microphthalmia 20
            syndromic microphthalmia 5 5
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        sensory system disease 5176
          eye disease 2591
            Eye Abnormalities 353
              microphthalmia 95
                syndromic microphthalmia 20
                  syndromic microphthalmia 5 5
paths to the root