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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 2:185,590,983...186,110,491
Ensembl chr 2:185,524,774...186,110,495
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 2:185,849,749...185,852,833
Ensembl chr 2:185,850,232...185,852,759
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      eye disease 2664
        microphthalmia 98
          syndromic microphthalmia 20
            syndromic microphthalmia 14 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          eye disease 2664
            Eye Abnormalities 367
              microphthalmia 98
                syndromic microphthalmia 20
                  syndromic microphthalmia 14 2
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.