Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Miller-Dieker syndrome
Synonyms	Lissencephaly due to 17p13.3 deletion Monosomy 17p13.3 Telomeric deletion 17p
ID	http://www.limics.org/hrdo/rdfns#pat_id_4054
ageOfOnset	Neonatal/infancy
altLabel	Lissencephaly due to 17p13.3 deletion Monosomy 17p13.3 Telomeric deletion 17p
id_MedDRA	10068361
id_Medline	http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed&Cmd=Search&Term=%28Lissencephaly%5Ball%5D+type+I%5Btw%5D%29+OR+%28%28Lissencephaly+OR+brain/ab%29+%28Miller+Dieker%5Btiab%5D+syndrome%29+OR+LIS1+protein%29
id_MeSH	D054221
id_MIM	247200
id_OMS	Q04.3
id_Orpha	531
id_SNOMEDCT	253148005
id_UMLS	C0265219
inheritance	Autosomal dominant
patType	malformation syndrome
prefixIRI	hrdo:pat_id_4054
prefLabel	Miller-Dieker syndrome
prevalence	Unknown
subClassOf	http://www.limics.org/hrdo/rdfns#typ_id_8

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Mapping To	Ontology	Source
http://sbmi.uth.tmc.edu/ontology/ochv#C0265219	OCHV	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00610	SNMI	LOOM
rgo:24839	GAMUTS	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C124852	NCIT	LOOM
http://purl.bioontology.org/ontology/RCD/X77r4	RCD	LOOM
http://nanbyodata.jp/ontology/NANDO_1201083	NANDO	LOOM
http://www.orpha.net/ORDO/Orphanet_531	CCONT	LOOM
http://www.orpha.net/ORDO/Orphanet_531	EFO	LOOM
http://www.orpha.net/ORDO/Orphanet_531	ORDO	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/253148005	SNOMEDCT	LOOM
http://purl.obolibrary.org/obo/NCIT_C124852	BERO	LOOM
http://purl.bioontology.org/ontology/MEDDRA/10079426	MEDDRA	LOOM
http://purl.jp/bio/4/id/200906063862803718	IOBC	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Miller-Dieker_Syndrome	ESSO	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Miller-Dieker_Syndrome	MEPO	LOOM
http://www.semanticweb.org/rjyy/ontologies/2015/5/ESSO#Miller-Dieker_Syndrome	EPISEM	LOOM