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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: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
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 Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif11 kinesin family member 11 ISO ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM
ClinVar
PMID:15930898, PMID:22284827, PMID:24281367, PMID:25115524, PMID:25124931, PMID:25741868, PMID:25934493, PMID:25996076, PMID:26472404, PMID:27212378, PMID:28492532, PMID:28494495, PMID:28785766, PMID:32214227 NCBI chr 1:256,035,866...256,088,299
Ensembl chr 1:256,035,866...256,088,299
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                complex cortical dysplasia with other brain malformations 743
                  Malformations of Cortical Development, Group I 597
                    microcephaly 433
                      microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.