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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 6
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Accession:DOID:0111805 term browser browse the term
Definition:A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in BMP4 on chromosome 14q22.2. (DO)
Synonyms:exact_synonym: Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia;   BMP4-RELATED SYNDROMIC MICROPHTHALMIA;   Bakrania-Ragge syndrome;   MCOPS6;   Microphthalmia And Pituitary Anomalies;   microphthalmia with brain and digit anomalies;   microphthalmia with brain and digit developmental anomalies;   syndromic microphthalmia type 6
 primary_id: MESH:C566440
 alt_id: OMIM:607932
 xref: GARD:3645;   ORDO:139471
For additional species annotation, visit the Alliance of Genome Resources.


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syndromic microphthalmia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by OMIM:607932
ClinVar Annotator: match by term: BMP4-Related Syndromic Microphthalmia
ClinVar Annotator: match by term: Microphthalmia syndromic 6
ClinVar Annotator: match by term: Microphthalmia with brain and digit anomalies
OMIM
ClinVar
PMID:12404109 PMID:17003840 PMID:18252212 PMID:18305125 PMID:18771417 PMID:19249007 PMID:19557432 PMID:19685083 PMID:20949628 PMID:21340693 PMID:22052794 PMID:22978696 PMID:23227324 PMID:24429398 PMID:25741868 PMID:28492532 NCBI chr15:20,776,060...20,791,013
Ensembl chr15:20,776,054...20,822,740
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        Nervous System Malformations 1036
          syndromic microphthalmia 6 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        sensory system disease 5168
          eye disease 2582
            Eye Abnormalities 352
              microphthalmia 94
                syndromic microphthalmia 20
                  syndromic microphthalmia 6 1
paths to the root