Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	lamin A/C
Synonyms	mandibuloacral dysplasia type A MADA HGPS progerin
ID	http://www.orpha.net/ORDO/Orphanet_123090
alternative_term	mandibuloacral dysplasia type A MADA HGPS progerin
hasDbXref	SwissProt:P02545 OMIM:150330 Genatlas:LMNA ClinVar:LMNA Ensembl:ENSG00000160789 Reactome:P02545 HGNC:6636
label	lamin A/C
prefixIRI	ORDO:Orphanet_123090
prefLabel	lamin A/C
symbol	LMNA
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.org/skeletome/bonedysplasia#P000104	BDO	LOOM
http://purl.bioontology.org/ontology/OMIM/150330	OMIM	LOOM
http://www.limics.org/hrdo/rdfns#gen_id_16364	HRDO	LOOM
http://purl.obolibrary.org/obo/NCIT_C136976	BERO	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C136976	NCIT	LOOM