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:
Vascular neoplasm (HP:0100742)

Parent Node:
Hemangioma (HP:0001028)

..Starting node
..Arachnoid hemangiomatosis (HP:0012222)

Term ID:

12222

Name:

Arachnoid hemangiomatosis

Synonym:

Definition:

The presence of multiple hemangiomas in the arachnoid.

Comments:

Reference:

HP:0012222

Genes and Diseases:

Child Nodes:

Sister Nodes:

Capillary hemangioma (HP:0005306)

Cardiac hemangioma (HP:0011673)

Cavernous hemangioma (HP:0001048)

Choroidal hemangioma (HP:0007872)

Facial hemangioma (HP:0000329)

Glabellar hemangioma (HP:0001076)

Glomeruloid hemangioma (HP:0031357)

Hemangiomatosis (HP:0007461)

Hepatic hemangioma (HP:0031207)

Perineal hemangioma (HP:0031449)

Retinal capillary hemangioma (HP:0009711)

Tufted angioma (HP:0012329)

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:0012222	HP:0012222	Arachnoid hemangiomatosis	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0012222	HP:0012222	Arachnoid hemangiomatosis	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	301
HP:0012222	HP:0012222	Arachnoid hemangiomatosis	0	GNAQ CL E G H	2776	4390	OMIM:185300	Sturge-Weber syndrome	.	7
HP:0012222	HP:0012222	Arachnoid hemangiomatosis	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	202
HP:0012222	HP:0012222	Arachnoid hemangiomatosis	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	84
HP:0012222	HP:0012222	Arachnoid hemangiomatosis	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	4
HP:0012222	HP:0012222	Arachnoid hemangiomatosis	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	1952
HP:0012222	HP:0012222	Arachnoid hemangiomatosis	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	572
HP:0012222	HP:0012222	Arachnoid hemangiomatosis	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	304
HP:0012222	HP:0012222	Arachnoid hemangiomatosis	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	55
HP:0012222	HP:0012222	Arachnoid hemangiomatosis	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	237
HP:0012222	HP:0012222	Arachnoid hemangiomatosis	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	147
HP:0012222	HP:0012222	Arachnoid hemangiomatosis	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	129
HP:0012222	HP:0012222	Arachnoid hemangiomatosis	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0012222	HP:0012222	Arachnoid hemangiomatosis	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	131
HP:0012222	HP:0012222	Arachnoid hemangiomatosis	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	490

Genes (16) :DLST FH GNAQ KIF1B MAX MDH2 NF1 RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 VHL

Diseases (2) :ORPHA:29072 OMIM:185300

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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