About: Waardenburg Syndrome

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Waardenburg Syndrome
rdfs:subClassOf	Syndrome Rare Non-Neoplastic Disorder
Has_NICHD_Parent	Genetic Disorder
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Waardenburg Syndrome
UMLS_CUI	C0043008
Contributing_Source	NICHD
FULL_SYN	Waardenburg's SyndromePTNICHD Waardenburg SyndromePTNCI
DEFINITION	A rare, autosomal dominant inherited syndrome caused by mutations in the PAX3, MITF, and SNAI2 genes. Signs and symptoms include hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.NCI
code	C85222
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0022860
is rdfs:subClassOf of	Waardenburg Syndrome Type 1 Waardenburg Syndrome Type 2
is someValuesFrom of	nodeID://b710520

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