Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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
..Abnormal astrocyte morphology (HP:0100707)

Term ID:

100707

Name:

Abnormal astrocyte morphology

Synonym:

Abnormality of the astrocytes

Definition:

An abnormality of astrocytes.

Comments:

Reference:

HP:0100707

Genes and Diseases:

Child Nodes:

........

Astrocytoma (HP:0009592)

................... HP:0009718 Subependymal giant-cell astrocytoma

Sister Nodes:

Abnormal microglia morphology (HP:0100708)

Abnormal oligodendroglia morphology (HP:0100706)

Astrocytosis (HP:0002446)

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:0100707	HP:0100707	Abnormal astrocyte morphology	0	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis		116
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	AIFM1 CL E G H	9131	8768	ORPHA:83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	HP:0040282 - Frequent	60
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli		3179
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis		3179
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome		3179
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis		3179
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3		7642
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia		56
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia		56
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome		289
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome		289
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome		833
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia		42
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7		42
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia		42
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1		77
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia		126
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia		126
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1		15
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome		15
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome		29
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy		411
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia		140
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia		140
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1		140
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome		1
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4		5
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis		5
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor		68
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2		220
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II		220
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis		7
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)		464
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9		23
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease		69
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia		241
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia		241
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome		42
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia		62
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy		6
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1		911
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome		911
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia		31
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia		31
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor		1090
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1		1090
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor		2738
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia		63
HP:0100707	HP:0100707	Abnormal astrocyte morphology	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia		63
HP:0100707	HP:0002446	Astrocytosis	1	ADAR CL E G H	103	225	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional	116
HP:0100707	HP:0009592	Astrocytoma	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli	.	3179
HP:0100707	HP:0009592	Astrocytoma	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare	3179
HP:0100707	HP:0009592	Astrocytoma	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare	3179
HP:0100707	HP:0009592	Astrocytoma	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare	3179
HP:0100707	HP:0009592	Astrocytoma	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	1
HP:0100707	HP:0002446	Astrocytosis	1	ATP6 CL E G H	4508	7414	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional
HP:0100707	HP:0009592	Astrocytoma	1	BRCA2 CL E G H	675	1101	OMIM:613029	Glioma susceptibility 3	.	7642
HP:0100707	HP:0002446	Astrocytosis	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	56
HP:0100707	HP:0002446	Astrocytosis	1	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	56
HP:0100707	HP:0009592	Astrocytoma	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0100707	HP:0009592	Astrocytoma	1	CDKN2A CL E G H	1029	1787	OMIM:155755	Melanoma-Astrocytoma syndrome	.	289
HP:0100707	HP:0009592	Astrocytoma	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0100707	HP:0002446	Astrocytosis	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	42
HP:0100707	HP:0002446	Astrocytosis	1	CHMP2B CL E G H	25978	24537	OMIM:600795	Frontotemporal dementia and/or amytrophic lateral sclerosis 7	.	42
HP:0100707	HP:0002446	Astrocytosis	1	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	42
HP:0100707	HP:0009592	Astrocytoma	1	ERBB2 CL E G H	2064	3430	OMIM:137800	Glioma susceptibility 1	.	77
HP:0100707	HP:0002446	Astrocytosis	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040281 - Very frequent	199
HP:0100707	HP:0002446	Astrocytosis	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040281 - Very frequent	55
HP:0100707	HP:0002446	Astrocytosis	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	126
HP:0100707	HP:0002446	Astrocytosis	1	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	126
HP:0100707	HP:0009592	Astrocytoma	1	IDH1 CL E G H	3417	5382	OMIM:137800	Glioma susceptibility 1	.	15
HP:0100707	HP:0009592	Astrocytoma	1	IDH1 CL E G H	3417	5382	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	15
HP:0100707	HP:0009592	Astrocytoma	1	IDH2 CL E G H	3418	5383	ORPHA:163634	Maffucci syndrome	HP:0040283 - Occasional	29
HP:0100707	HP:0009592	Astrocytoma	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex		23
HP:0100707	HP:0009592	Astrocytoma	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0100707	HP:0002446	Astrocytosis	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040282 - Frequent	411
HP:0100707	HP:0002446	Astrocytosis	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	140
HP:0100707	HP:0002446	Astrocytosis	1	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	140
HP:0100707	HP:0002446	Astrocytosis	1	MAPT CL E G H	4137	6893	OMIM:601104	Supranuclear palsy, progressive, 1		140
HP:0100707	HP:0009592	Astrocytoma	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0100707	HP:0009592	Astrocytoma	1	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100707	HP:0009592	Astrocytoma	1	MSH3 CL E G H	4437	7326	OMIM:617100	Familial adenomatous polyposis 4	.	5
HP:0100707	HP:0009592	Astrocytoma	1	MSH3 CL E G H	4437	7326	ORPHA:480536	MSH3-related attenuated familial adenomatous polyposis	HP:0040282 - Frequent	5
HP:0100707	HP:0009592	Astrocytoma	1	MSH6 CL E G H	2956	7329	OMIM:619097	MISMATCH REPAIR CANCER SYNDROME 3; MMRCS3		2232
HP:0100707	HP:0002446	Astrocytosis	1	MTOR CL E G H	2475	3942	OMIM:607341	Focal cortical dysplasia of taylor	.	68
HP:0100707	HP:0009592	Astrocytoma	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.	1952
HP:0100707	HP:0009592	Astrocytoma	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040284 - Very rare	220
HP:0100707	HP:0009592	Astrocytoma	1	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II	.	220
HP:0100707	HP:0009592	Astrocytoma	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	544
HP:0100707	HP:0002446	Astrocytosis	1	NUP62 CL E G H	23636	8066	ORPHA:225154	Familial infantile bilateral striatal necrosis	HP:0040283 - Occasional	7
HP:0100707	HP:0009592	Astrocytoma	1	PMS2 CL E G H	5395	9122	OMIM:619101	MISMATCH REPAIR CANCER SYNDROME 4; MMRCS4		1121
HP:0100707	HP:0002446	Astrocytosis	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.	464
HP:0100707	HP:0009592	Astrocytoma	1	POT1 CL E G H	25913	17284	OMIM:616568	Glioma susceptibility 9	.	23
HP:0100707	HP:0002446	Astrocytosis	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040282 - Frequent	69
HP:0100707	HP:0002446	Astrocytosis	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	241
HP:0100707	HP:0002446	Astrocytosis	1	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	241
HP:0100707	HP:0009592	Astrocytoma	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040284 - Very rare	60
HP:0100707	HP:0002446	Astrocytosis	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional	42
HP:0100707	HP:0002446	Astrocytosis	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	62
HP:0100707	HP:0002446	Astrocytosis	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	.	6
HP:0100707	HP:0002446	Astrocytosis	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional
HP:0100707	HP:0002446	Astrocytosis	1	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional
HP:0100707	HP:0009592	Astrocytoma	1	TP53 CL E G H	7157	11998	OMIM:137800	Glioma susceptibility 1	.	911
HP:0100707	HP:0009592	Astrocytoma	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0100707	HP:0002446	Astrocytosis	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	31
HP:0100707	HP:0002446	Astrocytosis	1	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	31
HP:0100707	HP:0002446	Astrocytosis	1	TSC1 CL E G H	7248	12362	OMIM:607341	Focal cortical dysplasia of taylor	.	1090
HP:0100707	HP:0009592	Astrocytoma	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex		1090
HP:0100707	HP:0009592	Astrocytoma	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0100707	HP:0002446	Astrocytosis	1	TSC2 CL E G H	7249	12363	OMIM:607341	Focal cortical dysplasia of taylor	.	2738
HP:0100707	HP:0009592	Astrocytoma	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex		2738
HP:0100707	HP:0009592	Astrocytoma	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738
HP:0100707	HP:0002446	Astrocytosis	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040283 - Occasional	63
HP:0100707	HP:0002446	Astrocytosis	1	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040283 - Occasional	63
HP:0100707	HP:0033680	Pilocytic astrocytoma	2	CL E G H
HP:0100707	HP:0009718	Subependymal giant-cell astrocytoma	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	23
HP:0100707	HP:0009718	Subependymal giant-cell astrocytoma	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2		23
HP:0100707	HP:0033682	Pleomorphic xanthoastrocytoma	2	MLH1 CL E G H	4292	7127	OMIM:276300	Mismatch repair cancer syndrome 1		1819
HP:0100707	HP:0009718	Subependymal giant-cell astrocytoma	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	1090
HP:0100707	HP:0009718	Subependymal giant-cell astrocytoma	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional	2738
HP:0100707	HP:0009718	Subependymal giant-cell astrocytoma	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2		2738

Genes (43) :ADAR AIFM1 APC APC2 ATP6 BRCA2 C9ORF72 CDKN2A CHEK2 CHMP2B ERBB2 ERCC6 ERCC8 GRN IDH1 IDH2 IFNG LAMA2 MAPT MDM2 MLH1 MSH3 MSH6 MTOR NF1 NF2 NSD1 NUP62 PMS2 POLG POT1 PRNP PSEN1 SETD2 SLC30A10 SQSTM1 STRADA TMEM106B TP53 TREM2 TSC1 TSC2 VCP

Diseases (35) :ORPHA:225154 ORPHA:83629 OMIM:175100 ORPHA:247806 ORPHA:79665 ORPHA:99818 ORPHA:821 OMIM:613029 ORPHA:275864 ORPHA:100070 ORPHA:524 OMIM:155755 OMIM:600795 OMIM:137800 ORPHA:90324 ORPHA:163634 ORPHA:805 OMIM:613254 ORPHA:258 OMIM:601104 OMIM:276300 OMIM:617100 ORPHA:480536 OMIM:619097 OMIM:607341 OMIM:162200 ORPHA:637 OMIM:101000 OMIM:619101 OMIM:203700 OMIM:616568 ORPHA:282166 ORPHA:309854 OMIM:611087 OMIM:191100

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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