Experimental Factor Ontology

Last uploaded: October 15, 2024
Preferred Name

Chiari malformation
Synonyms

(Arnold) Chiari malformation

Chiari malformation

Arnold-Chiari malformation

Definitions

A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.

ID

http://purl.obolibrary.org/obo/MONDO_0000115

database_cross_reference

MESH:D001139

MEDGEN:2065

UMLS:C0003803

NCIT:C84570

SCTID:253184003

definition

A rare genetic brain malformation characterized by displacement of the brain stem and cerebellum through the foramen magnum. It may result in hydrocephalus.

has_exact_synonym

(Arnold) Chiari malformation

Chiari malformation

Arnold-Chiari malformation

id

MONDO:0000115

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

label

Chiari malformation

notation

MONDO:0000115

preferred label

Chiari malformation

prefLabel

Chiari malformation

skos_exactMatch

http://identifiers.org/medgen/2065

http://linkedlifedata.com/resource/umls/id/C0003803

http://purl.obolibrary.org/obo/NCIT_C84570

http://identifiers.org/snomedct/253184003

http://identifiers.org/mesh/D001139

subClassOf

http://www.ebi.ac.uk/efo/EFO_0000508

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