Human Phenotype Ontology 
Grandparent Node:
expandMorphological central nervous system abnormality (HP:0002011)help
Parent Node:
expandAbnormality of the spinal cord (HP:0002143)help
..Starting node
..expandCervicomedullary schisis (HP:0030325)help
Term ID: 30325
Name: Cervicomedullary schisis
Synonym:
Definition: Fissure within the spinal cord of the neck.
Comments:
Reference: HP:0030325
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal spinal meningeal morphology (HP:0010303) help
..expandAbnormality of the dorsal column of the spinal cord (HP:0011397) help
..expandAbnormality of the spinocerebellar tracts (HP:0003133) help
..expandAtrophy/Degeneration involving the spinal cord (HP:0007344) help
..expandHyperintensity of MRI T2 signal of the spinal cord (HP:0040272) help
..expandLong-tract signs (HP:0002423) help
..expandMyelitis (HP:0012486) help
..expandMyelopathy (HP:0002196) help
..expandSpinal arteriovenous malformation (HP:0002390) help
..expandSpinal cord compression (HP:0002176) help
..expandSpinal cord lesion (HP:0100561) help
..expandSpinal cord posterior columns myelin loss (HP:0008311) help
..expandSpinal cord tumor (HP:0010302) help
..expandSpinal dysraphism (HP:0010301) help
..expandTethered cord (HP:0002144) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030325HP:0030325Cervicomedullary schisis0GDF6 CL E G H3922554221OMIM:118100Klippel-Feil syndrome 1, autosomal dominant64


Genes (1) :GDF6

Diseases (1) :OMIM:118100
 

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