Fanconi Anemia Ontology

Last uploaded: February 18, 2014

Preferred Name	Encephalocraniocutaneous Lipomatosis
Synonyms
Definitions	A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4701
comment	A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.
label	Encephalocraniocutaneous Lipomatosis
prefLabel	Encephalocraniocutaneous Lipomatosis
synonym	ECCL Fishman Syndrome
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3193

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4701	NCIT	SAME_URI
http://purl.obolibrary.org/obo/MONDO_0013074	MONDO	LOOM
http://purl.obolibrary.org/obo/MONDO_0013074	EFO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C535736	RH-MESH	LOOM
http://purl.obolibrary.org/obo/DERMO_0003421	DERMO	LOOM
http://www.orpha.net/ORDO/Orphanet_2396	ORDO	LOOM
http://www.limics.org/hrdo/rdfns#pat_id_2225	HRDO	LOOM
http://purl.bioontology.org/ontology/RCD/X50EL	RCD	LOOM
http://purl.bioontology.org/ontology/MESH/C535736	MESH	LOOM
http://purl.bioontology.org/ontology/OMIM/613001	OMIM	LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/238905009	SNOMEDCT	LOOM
http://www.gamuts.net/entity#encephalocraniocutaneous_lipomatosis	GAMUTS	LOOM
http://purl.obolibrary.org/obo/MONDO_0013074	DOVES	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C4701	NCIT	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Encephalocraniocutaneous_Lipomatosis	CSEO	LOOM
http://purl.obolibrary.org/obo/NCIT_C4701	BERO	LOOM
http://www.owl-ontologies.com/unnamed.owl#RID14727	DERMLEX	LOOM