Experimental Factor Ontology

Last uploaded: October 15, 2024

Preferred Name	Miller-Dieker syndrome
Synonyms	Lissencephaly due to 17p13.3 deletion Telomeric deletion 17p Monosomy 17p13.3
ID	http://www.orpha.net/ORDO/Orphanet_531
database_cross_reference	MedDRA:10068361 OMIM:247200 UMLS:C0265219 MeSH:D054221 MedDRA:10079426 ICD10:Q04.3
has_exact_synonym	Lissencephaly due to 17p13.3 deletion Telomeric deletion 17p Monosomy 17p13.3
label	Miller-Dieker syndrome
preferred label	Miller-Dieker syndrome
prefLabel	Miller-Dieker syndrome
subClassOf	http://www.orpha.net/ORDO/Orphanet_261965 http://www.orpha.net/ORDO/Orphanet_166478

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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_531	CCONT	SAME_URI
http://www.orpha.net/ORDO/Orphanet_531	ORDO	SAME_URI
http://sbmi.uth.tmc.edu/ontology/ochv#C0265219	OCHV	LOOM
http://purl.bioontology.org/ontology/SNMI/D4-00610	SNMI	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_4054	HRDO	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	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