ONTOLOGY REPORT - ANNOTATIONS


Term:isolated microphthalmia 2
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Accession:DOID:0060839 term browser browse the term
Definition:A microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. (DO)
Synonyms:exact_synonym: MCOP2;   isolated clinical anophthalmia
 primary_id: MESH:C566446
 alt_id: OMIM:610093;   RDO:0014797
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isolated microphthalmia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vsx2 visual system homeobox 2 JBrowse link 6 108,285,031 108,308,588 RGD:8554872
RGD:7240710

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  disease 14926
    Developmental Diseases 7774
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7096
        genetic disease 6457
          isolated microphthalmia 2 1
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 2 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.