About: Phakomatosis

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Phakomatosis
rdfs:subClassOf	Neoplastic Syndromes, Hereditary
Has_NICHD_Parent	Nervous System Malformations
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Phakomatosis
UMLS_CUI	C0265316
Contributing_Source	NICHD
FULL_SYN	PhacomatosisSYNCI PhakomatosisPTNCI Neurocutaneous SyndromeSYNCI Neurocutaneous SyndromePTNICHD
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.NCI
code	C84348
is rdf:first of	nodeID://b730685 nodeID://b730686 nodeID://b730687 nodeID://b730688
is rdfs:subClassOf of	Sturge-Weber Syndrome Neurofibromatoses
is Has_NICHD_Parent of	Sturge-Weber Syndrome Tuberous Sclerosis Neurofibromatoses

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