JSON

microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability

^ 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 ]

Term info

database cross reference
  • GARD:0003622 (MONDO:equivalentTo)
  • MESH:C537711 (Orphanet:2526/e)
  • Orphanet:2526 (OMIM:152950)
  • DOID:0060349 (MONDO:equivalentTo)
  • UMLS:C1835265 (Orphanet:2526/e)
  • OMIM:152950 (Orphanet:2526/e)
Subsets

ordo_malformation_syndrome

A synonym that is historic and discouraged
microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant [ OMIM:152950 ]

A synonym that is historic and discouraged
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation [ OMIM:152950 MONDO:Lexical ]

abbreviation
MLCRD [ Orphanet:2526 ]

A synonym that is historic and discouraged
MCLMR [ OMIM:152950 MONDO:Lexical ]

A synonym that is historic and discouraged
chorioretinal dysplasia-microcephaly-mental retardation syndrome [ DOID:0060349 ]

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.

exactMatch

https://omim.org/entry/152950, http://identifiers.org/mesh/C537711, http://purl.obolibrary.org/obo/Orphanet_2526, http://purl.obolibrary.org/obo/DOID_0060349, http://linkedlifedata.com/resource/umls/id/C1835265

has exact synonym

chorioretinal dysplasia-microcephaly-mental retardation syndrome, lymphedema and retinal folds with ficrocephaly and microphthalmos, MLCRD, microcephaly, lymphedema, chorioretinal dysplasia syndrome, lymphedema, microcephaly and chorioretinopathy syndrome, microcephaly lymphedema chorioretinal dysplasia, chorioretinal dysplasia-microcephaly-intellectual disability syndrome, microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, microcephaly with or without chorioretinopathy, lymphedema, or mental retardation

has related synonym

lymphedema, microcephaly, chorioretinopathy syndrome, Mlcrd syndrome, microcephaly and chorioretinopathy with or without intellectual disability, autosomal dominant, lymphedema and retinal Folds with microcephaly and microphthalmos, microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant, Cdmmr syndrome, MCLMR, microcephaly-lymphedema-chorioretinopathy syndrome

id

MONDO:0007918