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
..Generalized amyloid deposition (HP:0003216)

Term ID:

3216

Name:

Generalized amyloid deposition

Synonym:

Generalised amyloid deposition

Definition:

A diffuse form of amyloidosis.

Comments:

Reference:

HP:0003216

Genes and Diseases:

Child Nodes:

Sister Nodes:

Amyloidosis of peripheral nerves (HP:0100292)

Cardiac amyloidosis (HP:0030843)

Cerebral amyloid angiopathy (HP:0011970)

Conjunctival amyloidosis (HP:0010637)

Cutaneous amyloidosis (HP:0012309)

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:0003216	HP:0003216	Generalized amyloid deposition	0	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral		40
HP:0003216	HP:0003216	Generalized amyloid deposition	0	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral		8
HP:0003216	HP:0003216	Generalized amyloid deposition	0	CST3 CL E G H	1471	2475	OMIM:105150	Amyloidosis VI	.	3
HP:0003216	HP:0003216	Generalized amyloid deposition	0	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral		47
HP:0003216	HP:0003216	Generalized amyloid deposition	0	GSN CL E G H	2934	4620	OMIM:105120	Amyloidosis, Finnish type	.	53
HP:0003216	HP:0003216	Generalized amyloid deposition	0	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral		32

Genes (6) :APOA1 B2M CST3 FGA GSN LYZ

Diseases (3) :OMIM:105200 OMIM:105150 OMIM:105120

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.