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 pons morphology (HP:0007361)

Parent Node:
Cerebellar hypoplasia (HP:0001321)

Parent Node:
Hypoplasia of the pons (HP:0012110)

..Starting node
..Olivopontocerebellar hypoplasia (HP:0006955)

Term ID:

6955

Name:

Olivopontocerebellar hypoplasia

Synonym:

Definition:

Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus.

Comments:

Reference:

HP:0006955

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0006955	HP:0006955	Olivopontocerebellar hypoplasia	0	ATXN2 CL E G H	6311	10555	ORPHA:98756	Spinocerebellar ataxia type 2	HP:0040282 - Frequent	11
HP:0006955	HP:0006955	Olivopontocerebellar hypoplasia	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0006955	HP:0006955	Olivopontocerebellar hypoplasia	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0006955	HP:0006955	Olivopontocerebellar hypoplasia	0	MINPP1 CL E G H	9562	7102	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	3
HP:0006955	HP:0006955	Olivopontocerebellar hypoplasia	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.	150
HP:0006955	HP:0006955	Olivopontocerebellar hypoplasia	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0006955	HP:0006955	Olivopontocerebellar hypoplasia	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0006955	HP:0006955	Olivopontocerebellar hypoplasia	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0006955	HP:0006955	Olivopontocerebellar hypoplasia	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0006955	HP:0006955	Olivopontocerebellar hypoplasia	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional	13
HP:0006955	HP:0006955	Olivopontocerebellar hypoplasia	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040283 - Occasional	113
HP:0006955	HP:0006955	Olivopontocerebellar hypoplasia	0	TOE1 CL E G H	114034	15954	ORPHA:284339	Pontocerebellar hypoplasia type 7	HP:0040282 - Frequent	6
HP:0006955	HP:0006955	Olivopontocerebellar hypoplasia	0	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4	HP:0040282 - Frequent	102
HP:0006955	HP:0006955	Olivopontocerebellar hypoplasia	0	TSEN54 CL E G H	283989	27561	OMIM:610204	Pontocerebellar hypoplasia, type 5	.	102

Genes (13) :ATXN2 FKRP GMPPB MINPP1 PMM2 POMGNT1 POMK POMT1 POMT2 PPP2R1A RTTN TOE1 TSEN54

Diseases (8) :ORPHA:98756 ORPHA:370959 ORPHA:284339 OMIM:212065 ORPHA:457284 ORPHA:468631 ORPHA:166063 OMIM:610204

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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