Experimental Factor Ontology

Last uploaded: October 15, 2024
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Preferred Name

lissencephaly spectrum disorders
Synonyms

Broad gyri of cerebrum

large gyri of cerebrum

macrogyria

pachygyria

lissencephaly

lissencephaly (disease)

Lissencephaly

lissencephaly spectrum disorders
Definitions

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.
ID

http://purl.obolibrary.org/obo/MONDO_0018838
curated_content_resource

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

MESH:D054082

DOID:0050453

NANDO:1200574

MedDRA:10048911

NANDO:2200817

NCIT:C103921

UMLS:C0266463

SCTID:204036008

MEDGEN:78604

OMIMPS:607432

Orphanet:48471

GARD:12291

HP:0001339

NORD:1374
definition

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.
disease has major feature

http://purl.obolibrary.org/obo/HP_0001339
has_exact_synonym

lissencephaly

lissencephaly (disease)

Lissencephaly

lissencephaly spectrum disorders
has_related_synonym

Broad gyri of cerebrum

large gyri of cerebrum

macrogyria

pachygyria
IAO_0000233

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

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

MONDO:0018838
in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#clingen

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare
label

lissencephaly spectrum disorders
notation

MONDO:0018838
preferred label

lissencephaly spectrum disorders
prefLabel

lissencephaly spectrum disorders
skos_closeMatch

http://identifiers.org/meddra/10048911
skos_exactMatch

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

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

http://purl.obolibrary.org/obo/Orphanet_48471

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

https://omim.org/phenotypicSeries/PS607432

http://identifiers.org/medgen/78604

http://identifiers.org/snomedct/204036008

http://identifiers.org/mesh/D054082
subClassOf

http://purl.obolibrary.org/obo/MONDO_0100545

http://purl.obolibrary.org/obo/MONDO_0002320

http://purl.obolibrary.org/obo/MONDO_0021147
excluded_subClassOf

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