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ONTOLOGY REPORT - ANNOTATIONS


Term:microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
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Accession:DOID:0060349 term browser browse the term
Definition:A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. (DO)
Synonyms:exact_synonym: CDMMR syndrome;   LYMPHEDEMA, MICROCEPHALY, CHORIORETINOPATHY SYNDROME;   MCLMR;   MLCRD syndrome;   chorioretinal dysplasia-microcephaly-mental retardation syndrome;   lymphedema and retinal folds with ficrocephaly and microphthalmos;   lymphedema and retinal folds with microcephaly and microphthalmos;   lymphedema, microcephaly and chorioretinopathy syndrome;   microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant;   microcephaly lymphedema chorioretinal dysplasia;   microcephaly, lymphedema, chorioretinal dysplasia syndrome
 primary_id: MESH:C537711
 alt_id: OMIM:152950;   RDO:0003598;   RDO:0016134
 xref: ORDO:2526
For additional species annotation, visit the Alliance of Genome Resources.


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microcephaly with or without chorioretinopathy, lymphedema, or mental retardation term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif11 kinesin family member 11 JBrowse link 1 256,035,866 256,088,299 RGD:7240710
RGD:8554872

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Term Annotations click to browse term
  disease 14759
    syndrome 4210
      microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              developmental disorder of mental health 2584
                specific developmental disorder 1319
                  intellectual disability 1146
                    microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
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