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:
Morphological central nervous system abnormality (HP:0002011)

Parent Node:
Abnormal glial cell morphology (HP:0100705)

..Starting node
..Astrocytosis (HP:0002446)

Term ID:

2446

Name:

Astrocytosis

Synonym:

Increase in astrocyte number

Definition:

Proliferation of astrocytes in the area of a lesion of the central nervous system.

Comments:

Reference:

HP:0002446

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal astrocyte morphology (HP:0100707)

Abnormal microglia morphology (HP:0100708)

Abnormal oligodendroglia morphology (HP:0100706)

Glioma (HP:0009733)

Gliosis (HP:0002171)

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:0002446	HP:0002446	Astrocytosis	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional	116
HP:0002446	HP:0002446	Astrocytosis	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional
HP:0002446	HP:0002446	Astrocytosis	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	56
HP:0002446	HP:0002446	Astrocytosis	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	56
HP:0002446	HP:0002446	Astrocytosis	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	42
HP:0002446	HP:0002446	Astrocytosis	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.	42
HP:0002446	HP:0002446	Astrocytosis	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	42
HP:0002446	HP:0002446	Astrocytosis	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040281 - Very frequent	199
HP:0002446	HP:0002446	Astrocytosis	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040281 - Very frequent	55
HP:0002446	HP:0002446	Astrocytosis	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	126
HP:0002446	HP:0002446	Astrocytosis	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	126
HP:0002446	HP:0002446	Astrocytosis	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040282 - Frequent	411
HP:0002446	HP:0002446	Astrocytosis	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	140
HP:0002446	HP:0002446	Astrocytosis	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	140
HP:0002446	HP:0002446	Astrocytosis	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1		140
HP:0002446	HP:0002446	Astrocytosis	0	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor	.	68
HP:0002446	HP:0002446	Astrocytosis	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional	7
HP:0002446	HP:0002446	Astrocytosis	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0002446	HP:0002446	Astrocytosis	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0002446	HP:0002446	Astrocytosis	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	241
HP:0002446	HP:0002446	Astrocytosis	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	241
HP:0002446	HP:0002446	Astrocytosis	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0002446	HP:0002446	Astrocytosis	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	62
HP:0002446	HP:0002446	Astrocytosis	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	.	6
HP:0002446	HP:0002446	Astrocytosis	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional
HP:0002446	HP:0002446	Astrocytosis	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional
HP:0002446	HP:0002446	Astrocytosis	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	31
HP:0002446	HP:0002446	Astrocytosis	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	31
HP:0002446	HP:0002446	Astrocytosis	0	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor	.	1090
HP:0002446	HP:0002446	Astrocytosis	0	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor	.	2738
HP:0002446	HP:0002446	Astrocytosis	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	63
HP:0002446	HP:0002446	Astrocytosis	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	63

Genes (22) :ADAR ATP6 C9ORF72 CHMP2B ERCC6 ERCC8 GRN LAMA2 MAPT MTOR NUP62 POLG PRNP PSEN1 SLC30A10 SQSTM1 STRADA TMEM106B TREM2 TSC1 TSC2 VCP

Diseases (12) :ORPHA:225154 ORPHA:275864 ORPHA:100070 OMIM:600795 ORPHA:90324 ORPHA:258 OMIM:601104 OMIM:607341 OMIM:203700 ORPHA:282166 ORPHA:309854 OMIM:611087

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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