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 metencephalon morphology (HP:0011283)

Parent Node:
Abnormal cerebellum morphology (HP:0001317)

..Starting node
..Olivopontocerebellar atrophy (HP:0002542)

Term ID:

2542

Name:

Olivopontocerebellar atrophy

Synonym:

Olivopontocerebellar degeneration

Definition:

Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.

Comments:

Reference:

HP:0002542

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal cerebellar cortex morphology (HP:0031422)

Abnormal dentate nucleus morphology (HP:0100321)

Aplasia/Hypoplasia of the cerebellum (HP:0007360)

Ataxia (HP:0001251)

Cerebellar atrophy (HP:0001272)

Cerebellar calcifications (HP:0007352)

Cerebellar dysplasia (HP:0007033)

Cerebellar edema (HP:0030915)

Cerebellar gliosis (HP:0012698)

Cerebellar hemangioblastoma (HP:0006880)

Cerebellar malformation (HP:0002438)

Dysplastic gangliocytoma of the cerebellum (HP:0500009)

Enlarged cerebellum (HP:0012081)

Fusion of the cerebellar hemispheres (HP:0006899)

Recurrent subcortical infarcts (HP:0007236)

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:0002542	HP:0002542	Olivopontocerebellar atrophy	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0002542	HP:0002542	Olivopontocerebellar atrophy	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0002542	HP:0002542	Olivopontocerebellar atrophy	0	ATXN7 CL E G H	6314	10560	OMIM:164500	Spinocerebellar ataxia 7 opca III opca with retinal degeneration opca with macular degeneration and external ophthalmoplegia autosomal dominant cerebellar ataxia, type II adca, type II	.	8
HP:0002542	HP:0002542	Olivopontocerebellar atrophy	0	COQ2 CL E G H	27235	25223	OMIM:146500	Multiple system atrophy 1, susceptibility to	.	54
HP:0002542	HP:0002542	Olivopontocerebellar atrophy	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome	.	199
HP:0002542	HP:0002542	Olivopontocerebellar atrophy	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0002542	HP:0002542	Olivopontocerebellar atrophy	0	TTC19 CL E G H	54902	26006	OMIM:615157	Mitochondrial complex III deficiency, nuclear type 2	.	88

Genes (7) :ATXN1 ATXN2 ATXN7 COQ2 ERCC6 MBTPS2 TTC19

Diseases (7) :OMIM:164400 OMIM:183090 OMIM:164500 OMIM:146500 OMIM:278800 OMIM:308205 OMIM:615157

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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