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megalencephaly-capillary malformation-polymicrogyria syndrome

Go to external page 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. [ https://orcid.org/0000-0001-5208-3432 Orphanet:60040 ]

Synonyms: megalencephaly-capillary malformation-polymicrogyria syndrome megalencephaly-cutis marmorata telangiectatica congenita syndrome MCAP MCM macrocephaly-cutis marmorata telangiectatica congenita syndrome megalencephaly-capillary malformation-polymicrogyria syndrome, somatic megalencephaly-capillary malformation syndrome Megalencephaly-Capillary Malformation MCMTC macrocephaly-capillary malformation syndrome

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:60040 (OMIM:602501)
  • OMIM:602501 (Orphanet:60040/e)
  • MEDGEN:355421 (MONDO:equivalentTo)
  • GARD:6950 (MONDO:GARD)
  • NANDO:2200823 (https://orcid.org/0000-0003-0011-764X)
  • SCTID:703370002 (MONDO:equivalentTo)
  • UMLS:C1865285 (MONDO:equivalentTo)
  • ICD9:759.89 (MONDO:relatedTo)
  • NORD:1423 (MONDO:NORD)
  • MESH:C536142 (MONDO:equivalentTo)
Subsets

matrix_llm__is_cancer_other, ordo_disorder, gard_rare, mondo_top_grouping_member, matrix_llm__txgnn_other, nord_rare, matrix_included, rare, orphanet_rare, harrisons_view_nervous_system_disorder, matrix_llm__is_glucose_dysfunction_other, otar, matrix_llm__tag_qualy_lost_other, harrisons_view_disorder_of_development_or_morphogenesis, matrix_llm__medical_specialization_other, mondo_top_grouping_hereditary_disease, matrix_llm__tag_existing_treatment_other, matrix_txgnn_grouping_other, matrix_llm__anatomical_other, matrix_llm__is_pathogen_caused_other, ordo_malformation_syndrome, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, harrisons_view_hereditary_disease, mondo_top_grouping_disorder_of_development_or_morphogenesis

abbreviation
MCAP [ Orphanet:60040 https://omim.org/entry/602501 MONDO:Lexical ]

abbreviation
MCMTC [ Orphanet:60040 ]

abbreviation
MCM [ Orphanet:60040 ]

exactMatch

https://omim.org/entry/602501

http://identifiers.org/mesh/C536142

http://identifiers.org/medgen/355421

http://linkedlifedata.com/resource/umls/id/C1865285

http://identifiers.org/snomedct/703370002

http://www.orpha.net/ORDO/Orphanet_60040

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019293

http://purl.obolibrary.org/obo/MONDO_0019716

http://purl.obolibrary.org/obo/MONDO_0018719

has related synonym

megalocephaly cutis marmorata telangiectatica congenita

macrocephaly-capillary malformation

M-CMTC

M-CM

megalencephaly cutis marmorata telangiectatica congenita

macrocephaly cutis marmorata telangiectatica congenita

macrocephaly-cutis marmorata telangiectatica congenita

megalencephaly-cutis marmorata telangiectatica congenita

id

MONDO:0011240

term tracker item

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

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