Human Phenotype Ontology 
Grandparent Node:
expandAbnormal cerebellum morphology (HP:0001317)help
Grandparent Node:
expandAplasia/Hypoplasia involving the central nervous system (HP:0002977)help
Parent Node:
expandAplasia/Hypoplasia of the cerebellum (HP:0007360)help
..Starting node
..expandCerebellar agenesis (HP:0012642)help
Term ID: 12642
Name: Cerebellar agenesis
Synonym:
Definition: Cerebellar agenesis is defined by the near complete absence of cerebellar tissue with only remnants of the anterior vermis, flocculus, and/or middle cerebellar peduncles.
Comments:
Reference: HP:0012642
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCerebellar hypoplasia (HP:0001321) 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:0012642HP:0012642Cerebellar agenesis0EN1 CL E G H20193342OMIM:619218ENDOVE SYNDROME, LIMB-BRAIN TYPE; ENDOVESLB1
HP:0012642HP:0012642Cerebellar agenesis0PTF1A CL E G H25629723734OMIM:609069Pancreatic and cerebellar agenesis.22
HP:0012642HP:0012642Cerebellar agenesis0WDR81 CL E G H12499726600OMIM:617967Hydrocephalus, congenital, 3, with brain anomalies27


Genes (3) :EN1 PTF1A WDR81

Diseases (3) :OMIM:619218 OMIM:609069 OMIM:617967
 

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