Human Phenotype Ontology

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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:
Abnormal cerebellum morphology (HP:0001317)

Grandparent Node:
Abnormality of coordination (HP:0011443)

Parent Node:
Ataxia (HP:0001251)

..Starting node
..Nonprogressive cerebellar ataxia (HP:0002470)

Term ID:

2470

Name:

Nonprogressive cerebellar ataxia

Synonym:

Definition:

Comments:

Reference:

HP:0002470

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebellar ataxia associated with quadrupedal gait (HP:0009878)

Dysdiadochokinesis (HP:0002075)

Dysmetria (HP:0001310)

Dyssynergia (HP:0010867)

Episodic ataxia (HP:0002131)

Gait ataxia (HP:0002066)

Limb ataxia (HP:0002070)

Progressive cerebellar ataxia (HP:0002073)

Spastic ataxia (HP:0002497)

Truncal ataxia (HP:0002078)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0002470	HP:0002470	Nonprogressive cerebellar ataxia	0	ABCB7 CL E G H	22	301310	Anemia sideroblastic and spinocerebellar ataxia	301310	C1845028	OMIM	1	299	48	300135
HP:0002470	HP:0002470	Nonprogressive cerebellar ataxia	0	ATCAY CL E G H	85300	94122				ORPHA	1	209	779	608179
HP:0002470	HP:0002470	Nonprogressive cerebellar ataxia	0	ATP2B3 CL E G H	492	314978				ORPHA	1	352	816	300014
HP:0002470	HP:0002470	Nonprogressive cerebellar ataxia	0	CAMTA1 CL E G H	23261	314647				ORPHA	1	550	18806	611501
HP:0002470	HP:0002470	Nonprogressive cerebellar ataxia	0	CWF19L1 CL E G H	55280	453521				ORPHA	1	100	25613	616120
HP:0002470	HP:0002470	Nonprogressive cerebellar ataxia	0	DNAJC19 CL E G H	131118	610198	3-methylglutaconic aciduria type V	610198	C1857776	OMIM	1	142	30528	608977
HP:0002470	HP:0002470	Nonprogressive cerebellar ataxia	0	FRMD4A CL E G H	55691	466688				ORPHA	1	106	25491	616305
HP:0002470	HP:0002470	Nonprogressive cerebellar ataxia	0	ITPR1 CL E G H	3708	117360	Spinocerebellar ataxia 29	117360	C1861732	OMIM	1	1563	6180	147265
HP:0002470	HP:0002470	Nonprogressive cerebellar ataxia	0	NADK2 CL E G H	133686	431361				ORPHA	1	221	26404	615787
HPO disease - gene - phenotype less frequent non-typical associations:

Genes (9) :ABCB7 ATCAY ATP2B3 CAMTA1 CWF19L1 DNAJC19 FRMD4A ITPR1 NADK2

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

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is August 2021 release.