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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;   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;   lymphedema, microcephaly, 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
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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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Path 1
Term Annotations click to browse term
  disease 15599
    syndrome 5135
      microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
Path 2
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          monogenic disease 4558
            autosomal genetic disease 3509
              autosomal dominant disease 2076
                complex cortical dysplasia with other brain malformations 479
                  Malformations of Cortical Development, Group I 335
                    microcephaly 207
                      microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.