ONTOLOGY REPORT - ANNOTATIONS


Term:isolated microphthalmia 6
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Accession:DOID:0060835 term browser browse the term
Definition:A 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
 alt_id: RDO:0009904
 xref: ORDO:2542
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isolated microphthalmia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G C1qtnf5 C1q and TNF related 5 JBrowse link 8 48,443,515 48,445,639 RGD:8554872
G Mfrp membrane frizzled-related protein JBrowse link 8 48,437,720 48,443,421 RGD:8554872
G Prss56 serine protease 56 JBrowse link 9 94,278,981 94,284,111 RGD:7240710
RGD:8554872
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872

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Path 1
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  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          isolated microphthalmia 6 4
Path 2
Term Annotations click to browse term
  disease 14926
    disease of anatomical entity 14092
      nervous system disease 9154
        sensory system disease 4267
          eye and adnexa disease 1996
            eye disease 1996
              Eye Abnormalities 287
                microphthalmia 89
                  isolated microphthalmia 6 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.