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megalencephaly-capillary malformation-polymicrogyria syndrome

^ http://purl.obolibrary.org/obo/MONDO_0011240

A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism. [ Orphanet:60040 https://orcid.org/0000-0001-5208-3432 ]

Term info

database cross reference
  • OMIM:602501 (Orphanet:60040/e)
  • UMLS:C1865285 (Orphanet:60040)
  • Orphanet:60040 (OMIM:602501)
  • SCTID:703370002 (MONDO:equivalentTo)
  • GARD:0006950 (MONDO:equivalentTo)
  • MESH:C536142 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
Subsets

ordo_malformation_syndrome

abbreviation
MCM [ Orphanet:60040 ]

abbreviation
MCAP [ OMIM:602501 MONDO:Lexical Orphanet:60040 ]

abbreviation
MCMTC [ Orphanet:60040 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521, https://github.com/monarch-initiative/mondo/issues/5210

definition

A polymalfomative syndrome characterized by cutaneous capillary malformations, megalencephaly, cortical brain malformations (most distinctively polymicrogyria), abnormalities of somatic growth with body and brain asymmetry, developmental delay, and characteristic facial dysmorphism.

exactMatch

https://omim.org/entry/602501, http://identifiers.org/mesh/C536142, http://purl.obolibrary.org/obo/Orphanet_60040, http://linkedlifedata.com/resource/umls/id/C1865285, http://identifiers.org/snomedct/703370002

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019716, http://purl.obolibrary.org/obo/MONDO_0019293, http://purl.obolibrary.org/obo/MONDO_0018719

has exact synonym

MCAP, megalencephaly-capillary malformation-polymicrogyria syndrome, megalencephaly-cutis marmorata telangiectatica congenita syndrome, MCM, macrocephaly-cutis marmorata telangiectatica congenita syndrome, megalencephaly-capillary malformation syndrome, megalencephaly-capillary malformation-polymicrogyria syndrome, somatic, MCMTC, macrocephaly-capillary malformation syndrome

has related synonym

megalocephaly cutis marmorata telangiectatica congenita, macrocephaly-capillary malformation, M-CMTC, megalencephaly cutis marmorata telangiectatica congenita, M-CM, macrocephaly cutis marmorata telangiectatica congenita, macrocephaly-cutis marmorata telangiectatica congenita, megalencephaly-cutis marmorata telangiectatica congenita

id

MONDO:0011240