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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 by variable 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;   KIF11-RELATED CONDITION;   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 with or without chorioretinopathy, lymphedema, or impaired intellectual development;   microcephaly, lymphedema, chorioretinal dysplasia syndrome
 xref: MESH:C537711;   MIM:152950;   MONDO:0007918;   ORDO:2526


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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: KIF11-related condition | ClinVar Annotator: match by term: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Microcephaly lymphedema chorioretinal dysplasia | ClinVar Annotator: match by term: Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM
ClinVar		 PMID:9536098 PMID:15930898 PMID:16199547 PMID:17576681 PMID:22284827 More... NCBI chr 1:235,124,371...235,176,760
Ensembl chr 1:235,124,316...235,176,766 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    syndrome 11181
      microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
Path 2
Term Annotations click to browse term
  disease 19047
    Developmental Disease 14521
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13535
        genetic disease 13198
          monogenic disease 10701
            autosomal genetic disease 9873
              autosomal dominant disease 6529
                complex cortical dysplasia with other brain malformations 1633
                  Malformations of Cortical Development, Group I 1393
                    microcephaly 1143
                      microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 1
paths to the root