National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Congenital Cerebellar Hypoplasia
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98890
code	C98890
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source	NICHD
DEFINITION	Hypoplasia of the cerebellum that is associated with inherited metabolic disorders and neurodegenerative disorders. Signs and symptoms include mental and developmental delays, walking and balance difficulties, floppy muscle tone, and seizures.
Has_NICHD_Parent	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97172
label	Congenital Cerebellar Hypoplasia
NICHD_Hierarchy_Term	Congenital Cerebellar Hypoplasia
Preferred_Name	Congenital Cerebellar Hypoplasia
prefixIRI	C98890
prefLabel	Congenital Cerebellar Hypoplasia
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0266470
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97172 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C97154

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/MTHU056917	Online Mendelian Inheritance in Man	LOOM