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ONTOLOGY REPORT - ANNOTATIONS


Term:microphthalmia with limb anomalies
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Accession:DOID:0060861 term browser browse the term
Definition:An autosomal recessive disease 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: Anophthalmia Waardenburg syndrome;   Anophthalmos with Limb Anomalies;   Anophthalmos-syndactyly;   MLA;   OAS;   anophthalmia-syndactyly;   anophthalmia-syndactyly syndrome;   ophthalmoacromelic syndrome
 primary_id: MESH:C537769
 alt_id: OMIM:206920;   RDO:0003667
 xref: ORDO:1106
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microphthalmia with limb anomalies term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Smoc1 SPARC related modular calcium binding 1 JBrowse link 6 104,718,403 104,879,611 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15625
    syndrome 5162
      Waardenburg's syndrome 12
        microphthalmia with limb anomalies 1
Path 2
Term Annotations click to browse term
  disease 15625
    Developmental Diseases 8759
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7543
        genetic disease 7038
          monogenic disease 4656
            autosomal genetic disease 3617
              autosomal dominant disease 2135
                Waardenburg's syndrome 12
                  microphthalmia with limb anomalies 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.