microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
Go to external page http://purl.obolibrary.org/obo/MONDO_0007918
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. [ Orphanet:2526 ]
Synonyms: chorioretinal dysplasia-microcephaly-mental retardation syndrome lymphedema and retinal folds with ficrocephaly and microphthalmos MLCRD microcephaly, lymphedema, chorioretinal dysplasia syndrome microcephaly lymphedema chorioretinal dysplasia lymphedema, microcephaly and chorioretinopathy syndrome chorioretinal dysplasia-microcephaly-intellectual disability syndrome microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability microcephaly with or without chorioretinopathy, lymphedema, or mental retardation
Term information
- MEDGEN:320559 (MONDO:equivalentTo)
- DOID:0060349 (MONDO:equivalentTo)
- MESH:C537711 (Orphanet:2526/e)
- UMLS:C1835265 (MONDO:equivalentTo)
- Orphanet:2526 (OMIM:152950)
- OMIM:152950 (Orphanet:2526/e)
- GARD:3622 (MONDO:GARD)
gard_rare, ordo_disorder, otar, rare, ordo_malformation_syndrome, nord_rare, orphanet_rare, clingen
http://identifiers.org/mesh/C537711
https://omim.org/entry/152950
http://www.orpha.net/ORDO/Orphanet_2526
http://purl.obolibrary.org/obo/DOID_0060349
http://identifiers.org/medgen/320559
http://linkedlifedata.com/resource/umls/id/C1835265
lymphedema, microcephaly, chorioretinopathy syndrome
Mlcrd syndrome
microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant
microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant
lymphedema and retinal Folds with microcephaly and microphthalmos
Cdmmr syndrome
MCLMR
microcephaly-lymphedema-chorioretinopathy syndrome