Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Cerebellar malformation (HP:0002438)

Parent Node:
Abnormal cerebellar vermis morphology (HP:0002334)

..Starting node
..Cerebellar vermis atrophy (HP:0006855)

Term ID:

6855

Name:

Cerebellar vermis atrophy

Synonym:

Atrophy of cerebellar vermis; Atrophy of the cerebellar vermis; Vermian atrophy

Definition:

Wasting (atrophy) of the vermis of cerebellum.

Comments:

Reference:

HP:0006855

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)

Disorganization of the anterior cerebellar vermis (HP:0007065)

Dysgenesis of the cerebellar vermis (HP:0002195)

Dysmorphic inferior cerebellar vermis (HP:0012460)

Loss of Purkinje cells in the cerebellar vermis (HP:0007001)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	ARF1 CL E G H	375	652	OMIM:618185	Periventricular nodular heterotopia 8
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	ATXN8 CL E G H	724066	32925	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent	1
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	ATXN8OS CL E G H	6315	10561	ORPHA:98760	Spinocerebellar ataxia type 8	HP:0040282 - Frequent	1
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	CACNA1A CL E G H	773	1388	OMIM:108500	Episodic ataxia, type 2	.	449
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	CACNA1A CL E G H	773	1388	ORPHA:97	Familial paroxysmal ataxia	HP:0040283 - Occasional	449
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	CACNA1G CL E G H	8913	1394	ORPHA:458803	Spinocerebellar ataxia type 42	HP:0040282 - Frequent	32
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	CACNA2D2 CL E G H	9254	1400	OMIM:618501	Cerebellar atrophy with seizures and variable developmental delay	.	48
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	CHP1 CL E G H	11261	17433	OMIM:618438	Spastic ataxia 9, autosomal recessive	HP:0040284 - Very rare
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy		518
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	HP:0040283 - Occasional	38
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	DAB1 CL E G H	1600	2661	ORPHA:363710	Spinocerebellar ataxia type 37	HP:0040282 - Frequent	4
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	DLG4 CL E G H	1742	2903	OMIM:618793	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MRD62		2
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	FA2H CL E G H	79152	21197	ORPHA:329308	Fatty acid hydroxylase-associated neurodegeneration	HP:0040282 - Frequent	76
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent	107
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	GRID2 CL E G H	2895	4576	ORPHA:363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency	HP:0040282 - Frequent	18
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	GRID2 CL E G H	2895	4576	OMIM:616204	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18; SCAR18		18
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040283 - Occasional	12
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	ITPR1 CL E G H	3708	6180	ORPHA:208513	Spinocerebellar ataxia type 29	HP:0040282 - Frequent	177
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	KIF1A CL E G H	547	888	OMIM:614255	Mental retardation, autosomal dominant 9		276
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	MARS2 CL E G H	92935	25133	OMIM:611390	Spastic ataxia 3, autosomal recessive		25
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	MME CL E G H	4311	7154	OMIM:617018	SPINOCEREBELLAR ATAXIA 43; SCA43		18
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	MME CL E G H	4311	7154	ORPHA:497764	Spinocerebellar ataxia type 43	HP:0040283 - Occasional	18
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	OPA1 CL E G H	4976	8140	OMIM:210000	Behr syndrome		214
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	PEX16 CL E G H	9409	8857	OMIM:614877	Peroxisome biogenesis disorder 8B	.	59
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	PIK3R5 CL E G H	23533	30035	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040281 - Very frequent	11
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	PLP1 CL E G H	5354	9086	OMIM:312080	Pelizaeus-Merzbacher disease		60
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040282 - Frequent	7
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	POLR3B CL E G H	55703	30348	OMIM:614381	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism		67
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	PRKCG CL E G H	5582	9402	ORPHA:98763	Spinocerebellar ataxia type 14	HP:0040282 - Frequent	83
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	PUM1 CL E G H	9698	14957	OMIM:617931	Spinocerebellar ataxia 47	.	1
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	RNU12 CL E G H	267010	19380	ORPHA:512260	Congenital cerebellar ataxia due to RNU12 mutation	HP:0040282 - Frequent
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	SACS CL E G H	26278	10519	OMIM:270550	Spastic ataxia, Charlevoix-Saguenay type		309
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	HP:0040282 - Frequent	5
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D		66
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	SETX CL E G H	23064	445	ORPHA:64753	Spinocerebellar ataxia with axonal neuropathy type 2	HP:0040281 - Very frequent	162
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	SLC39A8 CL E G H	64116	20862	OMIM:616721	Congenital disorder of glycosylation, type IIN		11
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	TDP1 CL E G H	55775	18884	ORPHA:94124	Spinocerebellar ataxia with axonal neuropathy type 1	HP:0040282 - Frequent	52
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	TMEM240 CL E G H	339453	25186	ORPHA:98773	Spinocerebellar ataxia type 21	HP:0040282 - Frequent	9
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	TRPC3 CL E G H	7222	12335	OMIM:616410	Spinocerebellar ataxia 41		1
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	TRPC3 CL E G H	7222	12335	ORPHA:458798	Spinocerebellar ataxia type 41	HP:0040282 - Frequent	1
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	HP:0040283 - Occasional	14
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	VPS41 CL E G H	27072	12713	OMIM:619389	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29; SCAR29
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	WDR4 CL E G H	10785	12756	OMIM:618347	Galloway-Mowat syndrome 6
HP:0006855	HP:0006855	Cerebellar vermis atrophy	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9

Genes (49) :ADPRS ARF1 ATXN8 ATXN8OS CACNA1A CACNA1G CACNA2D2 CHP1 CNTNAP2 COX20 CUL4B DAB1 DLG4 FA2H FAR1 GJB1 GRID2 GTPBP2 HTT ITPR1 KIF1A LMX1B MARS2 MME OPA1 PEX16 PIGS PIK3R5 PLP1 PMPCA POLR3B PRKCG PUM1 QARS1 RFC1 RNU12 SACS SCYL1 SEPSECS SETX SLC39A8 STXBP1 TDP1 TMEM240 TRPC3 TUBB VPS41 WDR4 XRCC4

Diseases (51) :OMIM:618170 OMIM:618185 ORPHA:98760 OMIM:108500 ORPHA:97 ORPHA:458803 OMIM:618501 OMIM:618438 ORPHA:163681 OMIM:619054 OMIM:300354 ORPHA:363710 OMIM:618793 ORPHA:329308 OMIM:616154 ORPHA:1175 ORPHA:363432 OMIM:616204 OMIM:617988 ORPHA:248111 OMIM:117360 ORPHA:208513 OMIM:614255 ORPHA:495818 OMIM:611390 OMIM:617018 ORPHA:497764 OMIM:210000 OMIM:614877 OMIM:618143 ORPHA:64753 OMIM:312080 ORPHA:1170 OMIM:614381 ORPHA:98763 OMIM:617931 OMIM:615760 OMIM:614575 ORPHA:512260 OMIM:270550 ORPHA:466794 OMIM:613811 OMIM:616721 ORPHA:94124 ORPHA:98773 OMIM:616410 ORPHA:458798 OMIM:156610 OMIM:619389 OMIM:618347 OMIM:616541

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

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