JSON

lissencephaly spectrum disorders

Go to external page http://purl.obolibrary.org/obo/MONDO_0018838

The term lissencephaly covers a group of rare malformations sharing the common feature of anomalies in the appearance of brain convolutions (characterized by simplification or absence of folding) associated with abnormal organization of the cortical layers as a result of neuronal migration defects during embryogenesis. [ Orphanet:48471 ]

Synonyms: lissencephaly Lissencephaly lissencephaly (disease) lissencephaly spectrum disorders

This is just here as a test because I lose it

Term information

database cross reference
  • HP:0001339 (MONDO:otherHierarchy)
  • OMIMPS:607432 (https://orcid.org/0000-0002-6601-2165)
  • NCIT:C103921 (MONDO:equivalentTo)
  • DOID:0050453 (MONDO:equivalentTo)
  • MedDRA:10048911 (Orphanet:48471/e)
  • SCTID:204036008 (MONDO:equivalentTo)
  • GARD:12291 (MONDO:GARD)
  • NORD:1374 (MONDO:NORD)
  • NANDO:1200574 (https://orcid.org/0000-0003-0011-764X)
  • MEDGEN:78604 (MONDO:equivalentTo)
  • UMLS:C0266463 (MONDO:equivalentTo)
  • NANDO:2200817 (https://orcid.org/0000-0003-0011-764X)
  • Orphanet:48471 (MONDO:equivalentTo)
  • MESH:D054082 (Orphanet:48471/e)
Subsets

matrix_llm__is_cancer_other, gard_rare, disease_grouping, matrix_llm__txgnn_other, mondo_top_grouping_member, matrix_included, nord_rare, clingen, 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, harrisons_view_member, mondo_top_grouping_nervous_system_disorder, mondo_top_grouping_disorder_of_development_or_morphogenesis, harrisons_view_hereditary_disease, ordo_group_of_disorders

ClinGen label
lissencephaly spectrum disorders

closeMatch

http://identifiers.org/meddra/10048911

comment

Lissencephaly is a spectrum of gyral abnormalities. Lissencephaly, pchygyria and subcortical band heterotopia are known to be caused by the same genes. The distinction between these radiographic terms is not clear cut. The clinical consequences for these radiographic abnormalities is also often overlapping. (PMID:20331703, PMID:28440899)

contributor

https://orcid.org/0000-0002-4142-7153

https://orcid.org/0000-0003-2955-4640

curated content resource

https://search.clinicalgenome.org/kb/conditions/MONDO:0018838

exactMatch

https://omim.org/phenotypicSeries/PS607432

http://identifiers.org/mesh/D054082

http://purl.obolibrary.org/obo/NCIT_C103921

http://identifiers.org/medgen/78604

http://identifiers.org/snomedct/204036008

http://purl.obolibrary.org/obo/DOID_0050453

http://linkedlifedata.com/resource/umls/id/C0266463

http://www.orpha.net/ORDO/Orphanet_48471

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0000508

has related synonym

macrogyria

large gyri of cerebrum

Broad gyri of cerebrum

pachygyria

id

MONDO:0018838

should conform to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

term tracker item

https://github.com/monarch-initiative/mondo/issues/1312

https://github.com/monarch-initiative/mondo/issues/5588