About: Congenital Cerebellar Hypoplasia

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About: Congenital Cerebellar Hypoplasia Goto Sponge Distinct Permalink

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

Attributes	Values
rdf:type	Class
rdfs:label	Congenital Cerebellar Hypoplasia
rdfs:subClassOf	Non-Neoplastic Brain Disorder Nervous System Malformations
Has_NICHD_Parent	Nervous System Malformations
Concept_In_Subset	NICHD Terminology Neonatal Research Network Terminology
Semantic_Type	Disease or Syndrome
Preferred_Name	Congenital Cerebellar Hypoplasia
UMLS_CUI	C0266470
Contributing_Source	NICHD
FULL_SYN	Congenital Cerebellar HypoplasiaPTNCI Congenital Cerebellar HypoplasiaPTNICHD
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.NCI
code	C98890
http://linked.open...y/mesh/hasConcept	http://linked.opendata.cz/resource/mesh/concept/M0562868

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