Human Phenotype Ontology 
Grandparent Node:
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Abnormal cerebellum morphology (HP:0001317)help
Grandparent Node:
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Abnormality of coordination (HP:0011443)help
Parent Node:
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Ataxia (HP:0001251)help
..Starting node
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Nonprogressive cerebellar ataxia (HP:0002470)help
Term ID: 2470
Name: Nonprogressive cerebellar ataxia
Synonym:
Definition:
Comments:
Reference: HP:0002470
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandCerebellar ataxia associated with quadrupedal gait (HP:0009878) help
..expandDysdiadochokinesis (HP:0002075) help
..expandDysmetria (HP:0001310) help
..expandDyssynergia (HP:0010867) help
..expandEpisodic ataxia (HP:0002131) help
..expandGait ataxia (HP:0002066) help
..expandLimb ataxia (HP:0002070) help
..expandProgressive cerebellar ataxia (HP:0002073) help
..expandSpastic ataxia (HP:0002497) help
..expandTruncal ataxia (HP:0002078) 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:0002470HP:0002470Nonprogressive cerebellar ataxia0ABCB7 CL E G H2248OMIM:301310Anemia, sideroblastic, and spinocerebellar ataxia.35
HP:0002470HP:0002470Nonprogressive cerebellar ataxia0ATCAY CL E G H85300779ORPHA:94122Cerebellar ataxia, Cayman typeHP:0040281 - Very frequent72
HP:0002470HP:0002470Nonprogressive cerebellar ataxia0ATP2B3 CL E G H492816ORPHA:314978X-linked non progressive cerebellar ataxiaHP:0040281 - Very frequent19
HP:0002470HP:0002470Nonprogressive cerebellar ataxia0CAMTA1 CL E G H2326118806ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent34
HP:0002470HP:0002470Nonprogressive cerebellar ataxia0CWF19L1 CL E G H5528025613ORPHA:453521Autosomal recessive cerebellar ataxia due to CWF19L1 deficiencyHP:0040282 - Frequent9
HP:0002470HP:0002470Nonprogressive cerebellar ataxia0DNAJC19 CL E G H13111830528OMIM:6101983-@methylglutaconic aciduria, type V.25
HP:0002470HP:0002470Nonprogressive cerebellar ataxia0FRMD4A CL E G H5569125491ORPHA:466688Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndromeHP:0040282 - Frequent1
HP:0002470HP:0002470Nonprogressive cerebellar ataxia0ITPR1 CL E G H37086180OMIM:117360Spinocerebellar ataxia 29.177
HP:0002470HP:0002470Nonprogressive cerebellar ataxia0NADK2 CL E G H13368626404ORPHA:431361Progressive encephalopathy with leukodystrophy due to DECR deficiencyHP:0040282 - Frequent14
HP:0002470HP:0002470Nonprogressive cerebellar ataxia0POU4F1 CL E G H54579218ORPHA:314647Non-progressive cerebellar ataxia with intellectual disabilityHP:0040282 - Frequent


Genes (10) :ABCB7 ATCAY ATP2B3 CAMTA1 CWF19L1 DNAJC19 FRMD4A ITPR1 NADK2 POU4F1

Diseases (9) :OMIM:301310 ORPHA:94122 ORPHA:314978 ORPHA:314647 ORPHA:453521 OMIM:610198 ORPHA:466688 OMIM:117360 ORPHA:431361
 

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