Human Phenotype Ontology 
..Starting node
..expandChiari type II malformation (HP:0025660)help
Term ID: 25660
Name: Chiari type II malformation
Synonym: Arnold-Chiari type II malformation
Definition: A type of Chiari malformation that consists of brainstem herniation and a towering cerebellum in addition to the herniated cerebellar tonsils and vermis due to an open distal spinal dysraphism/myelomeningocele.
Comments:
Reference: HP:0025660
Genes and Diseases:
 
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InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0025660HP:0025660Chiari type II malformation0 CL E G H


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Diseases (0) :
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.