Experimental Factor Ontology

Last uploaded: July 4, 2024

Preferred Name	laminopathy
Synonyms
Definitions	A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.
ID	http://purl.obolibrary.org/obo/MONDO_0021106
database_cross_reference	UMLS:C5392094 Orphanet:98301 MESH:D000083083 GARD:19444
definition	A rare genetic disorder caused by mutations in genes encoding proteins of the nuclear lamina.
disease has basis in dysfunction of	http://purl.obolibrary.org/obo/GO_0005652
exactMatch	http://purl.obolibrary.org/obo/Orphanet_98301 http://linkedlifedata.com/resource/umls/id/C5392094 http://identifiers.org/mesh/D000083083
id	MONDO:0021106
in_subset	http://purl.obolibrary.org/obo/mondo/mondo-base#rare 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
label	laminopathy
notation	MONDO:0021106
preferred label	laminopathy
prefLabel	laminopathy
subClassOf	http://www.ebi.ac.uk/efo/EFO_0000508 http://www.ebi.ac.uk/efo/EFO_0000408

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/MONDO_0021106	MONDO	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0021106	OBA	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0021106	DOVES	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0021106	MONDO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_13318	HRDO	LOOM
http://www.orpha.net/ORDO/Orphanet_98301	ORDO	LOOM
rgo:29958	GAMUTS	LOOM
http://purl.obolibrary.org/obo/MONDO_0021106	OBA	LOOM
http://purl.jp/bio/4/id/200906070855184782	IOBC	LOOM
http://www.orpha.net/ORDO/Orphanet_98301	ORDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0021106	DOVES	LOOM