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:
Neoplasm of the central nervous system (HP:0100006)

Parent Node:
Benign neoplasm of the central nervous system (HP:0100835)

..Starting node
..Hemangioblastoma (HP:0010797)

Term ID:

10797

Name:

Hemangioblastoma

Synonym:

Haemangioblastoma

Definition:

A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter.

Comments:

Reference:

HP:0010797

Genes and Diseases:

Child Nodes:

........

Cerebellar hemangioblastoma (HP:0006880)

........

Retinal capillary hemangioma (HP:0009711)

........

Spinal hemangioblastoma (HP:0009713)

Sister Nodes:

Cerebral germinoma (HP:0100312)

Cerebral hamartoma (HP:0009731)

Choroid plexus papilloma (HP:0200022)

Meningioma (HP:0002858)

Multiple central nervous system lipomas (HP:0100251)

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:0010797	HP:0010797	Hemangioblastoma	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0010797	HP:0010797	Hemangioblastoma	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease		1
HP:0010797	HP:0010797	Hemangioblastoma	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome		1
HP:0010797	HP:0010797	Hemangioblastoma	0	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0010797	HP:0010797	Hemangioblastoma	0	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		301
HP:0010797	HP:0010797	Hemangioblastoma	0	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		202
HP:0010797	HP:0010797	Hemangioblastoma	0	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		84
HP:0010797	HP:0010797	Hemangioblastoma	0	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		4
HP:0010797	HP:0010797	Hemangioblastoma	0	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		1952
HP:0010797	HP:0010797	Hemangioblastoma	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	948
HP:0010797	HP:0010797	Hemangioblastoma	0	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		572
HP:0010797	HP:0010797	Hemangioblastoma	0	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		304
HP:0010797	HP:0010797	Hemangioblastoma	0	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		55
HP:0010797	HP:0010797	Hemangioblastoma	0	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		237
HP:0010797	HP:0010797	Hemangioblastoma	0	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		147
HP:0010797	HP:0010797	Hemangioblastoma	0	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		129
HP:0010797	HP:0010797	Hemangioblastoma	0	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma
HP:0010797	HP:0010797	Hemangioblastoma	0	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		131
HP:0010797	HP:0010797	Hemangioblastoma	0	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma		490
HP:0010797	HP:0010797	Hemangioblastoma	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease		490
HP:0010797	HP:0010797	Hemangioblastoma	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome		490
HP:0010797	HP:0006880	Cerebellar hemangioblastoma	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	1
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	1
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0010797	HP:0006880	Cerebellar hemangioblastoma	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0010797	HP:0009713	Spinal hemangioblastoma	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	DLST CL E G H	1743	2911	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	FH CL E G H	2271	3700	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	301
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	KIF1B CL E G H	23095	16636	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	202
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	MAX CL E G H	4149	6913	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	84
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	MDH2 CL E G H	4191	6971	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	4
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	NF1 CL E G H	4763	7765	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	1952
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	RET CL E G H	5979	9967	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	572
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	SDHA CL E G H	6389	10680	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	304
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	SDHAF2 CL E G H	54949	26034	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	55
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	SDHB CL E G H	6390	10681	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	237
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	SDHC CL E G H	6391	10682	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	147
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	SDHD CL E G H	6392	10683	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	129
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	SLC25A11 CL E G H	8402	10981	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	TMEM127 CL E G H	55654	26038	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	131
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	VHL CL E G H	7428	12687	ORPHA:29072	Hereditary pheochromocytoma-paraganglioma	HP:0040283 - Occasional	490
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	490
HP:0010797	HP:0006880	Cerebellar hemangioblastoma	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	490
HP:0010797	HP:0009711	Retinal capillary hemangioma	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490
HP:0010797	HP:0009713	Spinal hemangioblastoma	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490
HP:0010797	HP:0006880	Cerebellar hemangioblastoma	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490

Genes (18) :BMPR1A CCND1 DLST FH KIF1B MAX MDH2 NF1 PTEN RET SDHA SDHAF2 SDHB SDHC SDHD SLC25A11 TMEM127 VHL

Diseases (4) :ORPHA:79076 ORPHA:892 OMIM:193300 ORPHA:29072

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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