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)

Parent Node:
Cerebellar atrophy (HP:0001272)

..Starting node
..Pontocerebellar atrophy (HP:0006879)

Term ID:

6879

Name:

Pontocerebellar atrophy

Synonym:

Cerebellopontine atrophy

Definition:

Atrophy affecting the pons and the cerebellum.

Comments:

Reference:

HP:0006879

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebellar cortical atrophy (HP:0008278)

Cerebellar granular layer atrophy (HP:0012080)

Cerebellar Purkinje layer atrophy (HP:0012082)

Diffuse cerebellar atrophy (HP:0100275)

Spinocerebellar atrophy (HP:0007263)

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:0006879	HP:0006879	Pontocerebellar atrophy	0	CCDC88C CL E G H	440193	19967	OMIM:616053	Spinocerebellar ataxia 40	.	54
HP:0006879	HP:0006879	Pontocerebellar atrophy	0	CCDC88C CL E G H	440193	19967	ORPHA:423275	Spinocerebellar ataxia type 40	HP:0040282 - Frequent	54
HP:0006879	HP:0006879	Pontocerebellar atrophy	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0006879	HP:0006879	Pontocerebellar atrophy	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0006879	HP:0006879	Pontocerebellar atrophy	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0006879	HP:0006879	Pontocerebellar atrophy	0	FA2H CL E G H	79152	21197	ORPHA:171629	Autosomal recessive spastic paraplegia type 35	HP:0040283 - Occasional	76
HP:0006879	HP:0006879	Pontocerebellar atrophy	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional	411
HP:0006879	HP:0006879	Pontocerebellar atrophy	0	RORA CL E G H	6095	10258	OMIM:618060	INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA		1
HP:0006879	HP:0006879	Pontocerebellar atrophy	0	SETX CL E G H	23064	445	OMIM:606002	Spinocerebellar ataxia, autosomal recessive 1	.	162
HP:0006879	HP:0006879	Pontocerebellar atrophy	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1

Genes (8) :CCDC88C CLTC DPM1 FA2H LAMA2 RORA SETX VPS4A

Diseases (10) :OMIM:616053 ORPHA:423275 OMIM:617854 OMIM:608799 ORPHA:79322 ORPHA:171629 ORPHA:258 OMIM:618060 OMIM:606002 OMIM:619273

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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