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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 ClinVar Annotator: match by OMIM:206920
ClinVar Annotator: match by term: Anophthalmos with limb anomalies
OMIM
ClinVar
PMID:19208380 PMID:21194678 PMID:21194680 PMID:23646827 PMID:28085523 NCBI chr 6:104,718,403...104,879,611
Ensembl chr 6:104,718,512...104,877,980
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    syndrome 7036
      Waardenburg's syndrome 12
        microphthalmia with limb anomalies 1
Path 2
Term Annotations click to browse term
  disease 16091
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7958
          monogenic disease 5742
            autosomal genetic disease 4757
              autosomal dominant disease 3034
                Waardenburg's syndrome 12
                  microphthalmia with limb anomalies 1
paths to the root