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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 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 the MAB21L2 gene 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

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syndromic microphthalmia 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome ClinVar PMID:24906020 PMID:25719200 PMID:25741868 PMID:25741913 PMID:32860008 More... NCBI chrNW_004936689:429,907...1,080,226
Ensembl chrNW_004936689:430,293...1,079,838 		JBrowse link
G Mab21l2 mab-21 like 2 ISO ClinVar Annotator: match by term: Colobomatous microphthalmia-rhizomelic dysplasia syndrome OMIM
ClinVar		 PMID:24906020 PMID:25719200 PMID:25741868 PMID:25741913 PMID:32860008 More... NCBI chrNW_004936689:694,119...696,840
Ensembl chrNW_004936689:695,172...696,251 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16465
    sensory system disease 6279
      eye disease 3211
        Eye Abnormalities 740
          coloboma 112
            syndromic microphthalmia 14 2
Path 2
Term Annotations click to browse term
  disease 16465
    Pathological Conditions, Signs and Symptoms 11287
      Signs and Symptoms 9356
        Neurologic Manifestations 9046
          sensory system disease 6279
            eye disease 3211
              Eye Abnormalities 740
                microphthalmia 204
                  syndromic microphthalmia 76
                    syndromic microphthalmia 14 2
paths to the root