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ONTOLOGY REPORT - ANNOTATIONS


Term:syndromic microphthalmia 14
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Accession:DOID:0111802 term browser browse the term
Definition:A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in MAB21L2 on chromosome 4q31.3. (DO)
Synonyms:exact_synonym: MCOPS14;   MCSKS;   MICROPHTHALMIA AND COLOBOMA, WITH OR WITHOUT RHIZOMELIC SKELETAL DYSPLASIA;   MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME;   colobomatous microphthalmia-rhizomelic dysplasia syndrome;   microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia;   microphthalmia or coloboma with or without rhizomelic skeletal dysplasia
 primary_id: OMIM:615877
 xref: ORDO:424099
For additional species annotation, visit the Alliance of Genome Resources.


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syndromic microphthalmia 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrba LPS responsive beige-like anchor protein JBrowse link 2 185,590,983 186,110,491 RGD:8554872
G Mab21l2 mab-21 like 2 JBrowse link 2 185,849,749 185,852,833 RGD:8554872
RGD:7240710

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  disease 16021
    sensory system disease 4979
      eye disease 2391
        microphthalmia 92
          syndromic microphthalmia 20
            syndromic microphthalmia 14 2
Path 2
Term Annotations click to browse term
  disease 16021
    disease of anatomical entity 15274
      nervous system disease 10770
        sensory system disease 4979
          eye disease 2391
            Eye Abnormalities 332
              microphthalmia 92
                syndromic microphthalmia 20
                  syndromic microphthalmia 14 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.