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microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability - Ontology Report - Rat Genome Database

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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
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Accession:EFO:MONDO:0007918 term browser browse the term
Definition:Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID) is a rare autosomal dominant condition characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.
Synonyms:exact_synonym: DOID:0060349;   MLCRD;   Orphanet:2526;   chorioretinal dysplasia-microcephaly-intellectual disability syndrome;   chorioretinal dysplasia-microcephaly-mental retardation syndrome;   http://identifiers.org/medgen/320559;   http://identifiers.org/mesh/C537711;   http://linkedlifedata.com/resource/umls/id/C1835265;   https://omim.org/entry/152950;   lymphedema and retinal folds with ficrocephaly and microphthalmos;   lymphedema, microcephaly and chorioretinopathy syndrome;   microcephaly lymphedema chorioretinal dysplasia;   microcephaly with or without chorioretinopathy, lymphedema, or mental retardation;   microcephaly, lymphedema, chorioretinal dysplasia syndrome
 related_synonym: Cdmmr syndrome;   MCLMR;   Mlcrd syndrome;   lymphedema and retinal Folds with microcephaly and microphthalmos;   microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant;   microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant;   microcephaly-lymphedema-chorioretinopathy syndrome
 alt_id: MONDO:0007918
 xref: DOID:0060349;   GARD:3622;   MEDGEN:320559;   MESH:C537711;   MIM:152950;   ORDO:2526;   UMLS:C1835265

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  experimental factor 0
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          immune system disease 0
            lymphoid system disorder 0
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                lymphedema 0
                  primary lymphedema 0
                    lymphatic malformation 0
                      microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability 0
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