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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:microphthalmia with limb anomalies
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Accession:DOID:0060861 term browser browse the term
Definition:A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. (DO)
Synonyms:exact_synonym: Anophthalmos-syndactyly;   MLA;   OAS;   anophthalmia Waardenburg syndrome;   anophthalmia-syndactyly;   anophthalmia-syndactyly syndrome;   anophthalmos with limb anomalies;   ophthalmoacromelic syndrome
 primary_id: MESH:C537769
 alt_id: OMIM:206920
 xref: ORDO:1106


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microphthalmia with limb anomalies term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smoc1 SPARC related modular calcium binding 1 ISO
ISS		 ClinVar Annotator: match by term: Microphthalmia with limb anomalies
CTD Direct Evidence: marker/mechanism
OMIM:206920		 OMIM
ClinVar
CTD
MouseDO		 PMID:19208380 PMID:21194678 PMID:21194680 PMID:23646827 PMID:25741868 More... NCBI chr 6:100,701,330...100,897,441
Ensembl chr 6:100,701,346...100,862,699 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    syndrome 10833
      Waardenburg syndrome 15
        microphthalmia with limb anomalies 1
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                Waardenburg syndrome 15
                  microphthalmia with limb anomalies 1
paths to the root