Biological and Environmental Research Ontology

Last uploaded: December 23, 2022

Preferred Name	Phakomatosis
Synonyms
Definitions	A hereditary syndrome affecting the central nervous system that is associated with lesions of the skin and retina. Representative examples include neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and Sturge-Weber syndrome.
ID	http://purl.obolibrary.org/obo/NCIT_C84348
code	C84348
Contributing_Source	NICHD
definition	A hereditary syndrome affecting the central nervous system that is associated with lesions of the skin and retina. Representative examples include neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and Sturge-Weber syndrome.
in_subset	http://purl.obolibrary.org/obo/NCIT_C90259 http://purl.obolibrary.org/obo/NCIT_C99147
label	Phakomatosis
Maps_To	Phakomatoses, not elsewhere classified
Preferred_Name	Phakomatosis
prefixIRI	NCIT:C84348
prefLabel	Phakomatosis
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0265316
subClassOf	http://purl.obolibrary.org/obo/NCIT_C3266

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C84348	NCIT	LOOM
	http://purl.bioontology.org/ontology/MEDDRA/10048734	MEDDRA	LOOM