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:
Abnormality of metabolism/homeostasis (HP:0001939)

Parent Node:
Amyloidosis (HP:0011034)

..Starting node
..Cerebral amyloid angiopathy (HP:0011970)

Term ID:

11970

Name:

Cerebral amyloid angiopathy

Synonym:

Definition:

Amyloid deposition in the walls of leptomeningeal and cortical arteries, arterioles, and less often capillaries and veins of the central nervous system.

Comments:

Reference:

HP:0011970

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amyloidosis of peripheral nerves (HP:0100292)

Cardiac amyloidosis (HP:0030843)

Conjunctival amyloidosis (HP:0010637)

Cutaneous amyloidosis (HP:0012309)

Generalized amyloid deposition (HP:0003216)

Hepatic amyloidosis (HP:0012280)

Renal amyloidosis (HP:0001917)

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:0011970	HP:0011970	Cerebral amyloid angiopathy	0	APOE CL E G H	348	613	OMIM:606889	Alzheimer disease 4	.	39
HP:0011970	HP:0011970	Cerebral amyloid angiopathy	0	APP CL E G H	351	620	ORPHA:100006	ABeta amyloidosis, Dutch type	HP:0040282 - Frequent	74
HP:0011970	HP:0011970	Cerebral amyloid angiopathy	0	APP CL E G H	351	620	OMIM:605714	Cerebral amyloid angiopathy, APP-related	.	74
HP:0011970	HP:0011970	Cerebral amyloid angiopathy	0	CST3 CL E G H	1471	2475	ORPHA:100008	ACys amyloidosis	HP:0040281 - Very frequent	3
HP:0011970	HP:0011970	Cerebral amyloid angiopathy	0	ITM2B CL E G H	9445	6174	OMIM:176500	Cerebral amyloid angiopathy, itm2b-related, 1	.	3
HP:0011970	HP:0011970	Cerebral amyloid angiopathy	0	ITM2B CL E G H	9445	6174	OMIM:117300	Dementia, familial danish		3
HP:0011970	HP:0011970	Cerebral amyloid angiopathy	0	PSEN2 CL E G H	5664	9509	OMIM:606889	Alzheimer disease 4	.	59

Genes (5) :APOE APP CST3 ITM2B PSEN2

Diseases (6) :OMIM:606889 ORPHA:100006 OMIM:605714 ORPHA:100008 OMIM:176500 OMIM:117300

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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