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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 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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrba LPS responsive beige-like anchor protein ISO ClinVar Annotator: match by term: MICROPHTHALMIA, SYNDROMIC 14
ClinVar Annotator: match by term: Microphthalmia/coloboma and skeletal dysplasia syndrome
ClinVar PMID:24906020 PMID:25719200 PMID:25741868 PMID:32860008 NCBI chr 2:171,623,668...172,202,576
Ensembl chr 2:171,621,507...172,202,724
JBrowse link
G Mab21l2 mab-21 like 2 ISO ClinVar Annotator: match by OMIM:615877
ClinVar Annotator: match by term: Microphthalmia/coloboma and skeletal dysplasia syndrome
ClinVar
OMIM
PMID:24906020 PMID:25719200 PMID:25741868 PMID:32860008 NCBI chr 2:171,946,573...171,949,655
Ensembl chr 2:171,946,573...171,949,655
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17240
    sensory system disease 5615
      eye disease 2736
        microphthalmia 101
          syndromic microphthalmia 57
            syndromic microphthalmia 14 2
Path 2
Term Annotations click to browse term
  disease 17240
    disease of anatomical entity 16581
      nervous system disease 12115
        sensory system disease 5615
          eye disease 2736
            Eye Abnormalities 401
              microphthalmia 101
                syndromic microphthalmia 57
                  syndromic microphthalmia 14 2
paths to the root