Human Phenotype Ontology 
Grandparent Node:
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Cerebellar malformation (HP:0002438)help
Parent Node:
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Abnormality of the cerebellar vermis (HP:0002334)help
..Starting node
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Cerebellar vermis atrophy (HP:0006855)help
Term ID: 6855
Name: Cerebellar vermis atrophy
Synonym: Atrophy of cerebellar vermis; Atrophy of the cerebellar vermis
Definition: Wasting (atrophy) of the vermis of cerebellum.
Comments:
Reference: HP:0006855
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAplasia/Hypoplasia of the cerebellar vermis (HP:0006817) help
..expandDisorganization of the anterior cerebellar vermis (HP:0007065) help
..expandDysgenesis of the cerebellar vermis (HP:0002195) help
..expandDysmorphic inferior cerebellar vermis (HP:0012460) help
..expandLoss of Purkinje cells in the cerebellar vermis (HP:0007001) help
InputHPO IDHPO termDistanceGeneGene id entrezDiseaseIdDiseaseNameDiseaseMIMConceptIDSourceTypical associationHGMD variantsClinVar variantsHGNC IDGeneMIM
 
HPO disease - gene - phenotype typical associations:
HP:0006855HP:0006855Cerebellar vermis atrophy0ATXN8 CL E G H72406698760ORPHA12232925613289
HP:0006855HP:0006855Cerebellar vermis atrophy0ATXN8OS CL E G H631598760ORPHA156910561603680
HP:0006855HP:0006855Cerebellar vermis atrophy0CACNA1A CL E G H773108500Episodic ataxia type 2108500C1720416OMIM125113931388601011
HP:0006855HP:0006855Cerebellar vermis atrophy0CACNA1G CL E G H8913458803ORPHA1121671394604065
HP:0006855HP:0006855Cerebellar vermis atrophy0DAB1 CL E G H1600363710ORPHA12482661603448
HP:0006855HP:0006855Cerebellar vermis atrophy0GJB1 CL E G H27051175CDK4 linked melanomaORPHA14996684283304040
HP:0006855HP:0006855Cerebellar vermis atrophy0GRID2 CL E G H2895363432ORPHA1211074576602368
HP:0006855HP:0006855Cerebellar vermis atrophy0ITPR1 CL E G H3708208513ORPHA1955016180147265
HP:0006855HP:0006855Cerebellar vermis atrophy0ITPR1 CL E G H3708117360Spinocerebellar ataxia 29117360C1861732OMIM1955016180147265
HP:0006855HP:0006855Cerebellar vermis atrophy0PEX16 CL E G H9409614877Peroxisome biogenesis disorder 8B614877C3553960OMIM1151498857603360
HP:0006855HP:0006855Cerebellar vermis atrophy0PIK3R5 CL E G H2353364753ORPHA123930035611317
HP:0006855HP:0006855Cerebellar vermis atrophy0PRKCG CL E G H558298763ORPHA1521859402176980
HP:0006855HP:0006855Cerebellar vermis atrophy0PUM1 CL E G H9698617931SPINOCEREBELLAR ATAXIA 47617931CN244564OMIM1123214957607204
HP:0006855HP:0006855Cerebellar vermis atrophy0QARS CL E G H5859615760Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy615760C4014239OMIM1109751603727
HP:0006855HP:0006855Cerebellar vermis atrophy0RNU12 CL E G H267010512260ORPHA1112193800
HP:0006855HP:0006855Cerebellar vermis atrophy0SACS CL E G H26278270550Spastic ataxia Charlevoix-Saguenay type270550C1849140OMIM1264119110519604490
HP:0006855HP:0006855Cerebellar vermis atrophy0SCYL1 CL E G H57410466794ORPHA1115714372607982
HP:0006855HP:0006855Cerebellar vermis atrophy0SETX CL E G H2306464753ORPHA1216651445608465
HP:0006855HP:0006855Cerebellar vermis atrophy0TDP1 CL E G H5577594124ORPHA1313718884607198
HP:0006855HP:0006855Cerebellar vermis atrophy0TMEM240 CL E G H33945398773ORPHA1616325186616101
HP:0006855HP:0006855Cerebellar vermis atrophy0TRPC3 CL E G H7222458798ORPHA123212335602345
HP:0006855HP:0006855Cerebellar vermis atrophy0XRCC4 CL E G H7518616541Short stature, microcephaly, and endocrine dysfunction616541C4225288OMIM1153712831194363
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006855HP:0006855Cerebellar vermis atrophy0CACNA1A CL E G H77397ORPHA025113931388601011
HP:0006855HP:0006855Cerebellar vermis atrophy0CUL4B CL E G H8450300354Syndromic X-linked mental retardation, Cabezas type300354C1845861OMIM0402472555300304
HP:0006855HP:0006855Cerebellar vermis atrophy0HTT CL E G H3064248111ORPHA081274851613004
HP:0006855HP:0006855Cerebellar vermis atrophy0KIF1A CL E G H547614255Mental retardation, autosomal dominant 9614255C3280283OMIM0431059888601255
HP:0006855HP:0006855Cerebellar vermis atrophy0MME CL E G H4311497764ORPHA028917154120520
HP:0006855HP:0006855Cerebellar vermis atrophy0TUBB CL E G H203068156610Michelin-tire baby156610C0473586OMIM083320778191130


Genes (26) :ATXN8 ATXN8OS CACNA1A CACNA1G CUL4B DAB1 GJB1 GRID2 HTT ITPR1 KIF1A MME PEX16 PIK3R5 PRKCG PUM1 QARS RNU12 SACS SCYL1 SETX TDP1 TMEM240 TRPC3 TUBB XRCC4

Diseases (26) :98760 97 108500 458803 300354 363710 1175 363432 248111 208513 117360 614255 497764 614877 64753 98763 617931 615760 512260 270550 466794 94124 98773 458798 156610 616541
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is June 2019 release.