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 glial cell morphology (HP:0100705)

Parent Node:
Abnormal cerebellum morphology (HP:0001317)

Parent Node:
Gliosis (HP:0002171)

..Starting node
..Cerebellar gliosis (HP:0012698)

Term ID:

12698

Name:

Cerebellar gliosis

Synonym:

Definition:

Focal proliferation of glial cells in the cerebellum.

Comments:

Reference:

HP:0012698

Genes and Diseases:

Child Nodes:

Sister Nodes:

Basal ganglia gliosis (HP:0006999)

Hypothalamic gliosis (HP:0025037)

Myelin-dependent gliosis (HP:0006990)

Substantia nigra gliosis (HP:0011960)

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:0012698	HP:0012698	Cerebellar gliosis	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0012698	HP:0012698	Cerebellar gliosis	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0012698	HP:0012698	Cerebellar gliosis	0	PLA2G6 CL E G H	8398	9039	ORPHA:35069	Infantile neuroaxonal dystrophy	HP:0040282 - Frequent	133
HP:0012698	HP:0012698	Cerebellar gliosis	0	SLC25A46 CL E G H	91137	25198	OMIM:616505	Neuropathy, hereditary motor and sensory, type VIB		14

Genes (4) :LONP1 PDHA1 PLA2G6 SLC25A46

Diseases (3) :ORPHA:79243 ORPHA:35069 OMIM:616505

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