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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 6
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Accession:DOID:0060835 term browser browse the term
Definition:An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: MCOP6;   posterior nonsyndromic microphthalmia
 primary_id: OMIM:613517
 xref: ORDO:2542


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isolated microphthalmia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1qtnf5 C1q and TNF related 5 ISO ClinVar Annotator: match by term: Isolated microphthalmia 6 ClinVar PMID:19169412 PMID:25741868 PMID:28492532 NCBI chr 8:44,450,934...44,453,075
Ensembl chr 8:44,451,154...44,453,074 		JBrowse link
G Mfrp membrane frizzled-related protein ISO ClinVar Annotator: match by term: Isolated microphthalmia 6 ClinVar PMID:19169412 PMID:25741868 PMID:28492532 NCBI chr 8:44,445,636...44,450,859
Ensembl chr 8:44,445,697...44,450,859 		JBrowse link
G Prss56 serine protease 56 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:613517
ClinVar Annotator: match by term: Isolated microphthalmia 6 | ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:15823920 PMID:17576681 PMID:19526372 PMID:21397065 More... NCBI chr 9:87,842,806...87,859,978
Ensembl chr 9:87,854,805...87,859,978 		JBrowse link
G Vsx2 visual system homeobox 2 ISO ClinVar Annotator: match by term: MICROPHTHALMIA, POSTERIOR NONSYNDROMIC ClinVar NCBI chr 6:104,214,842...104,240,264
Ensembl chr 6:104,217,230...104,240,018 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    sensory system disease 6948
      eye disease 3480
        microphthalmia 215
          isolated microphthalmia 104
            isolated microphthalmia 6 4
Path 2
Term Annotations click to browse term
  disease 21126
    Pathological Conditions, Signs and Symptoms 13335
      Signs and Symptoms 10811
        Neurologic Manifestations 10043
          sensory system disease 6948
            eye disease 3480
              Eye Abnormalities 780
                microphthalmia 215
                  isolated microphthalmia 104
                    isolated microphthalmia 6 4
paths to the root