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
..Cerebellar granular layer atrophy (HP:0012080)

Term ID:

12080

Name:

Cerebellar granular layer atrophy

Synonym:

Definition:

Atrophy of the cerebellum affecting primarily the granular cell layer.

Comments:

Reference:

HP:0012080

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebellar cortical atrophy (HP:0008278)

Cerebellar Purkinje layer atrophy (HP:0012082)

Diffuse cerebellar atrophy (HP:0100275)

Pontocerebellar atrophy (HP:0006879)

Spinocerebellar atrophy (HP:0007263)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012080	HP:0012080	Cerebellar granular layer atrophy	0	CL E G H

Genes (0) :

Diseases (0) :

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