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:
Abnormality of peripheral nerves (HP:0045010)

Parent Node:
Amyloidosis (HP:0011034)

..Starting node
..Amyloidosis of peripheral nerves (HP:0100292)

Term ID:

100292

Name:

Amyloidosis of peripheral nerves

Synonym:

Definition:

The presence of amyloid deposition in the nerves of the peripheral nervous system.

Comments:

Reference:

HP:0100292

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cardiac amyloidosis (HP:0030843)

Cerebral amyloid angiopathy (HP:0011970)

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:0100292	HP:0100292	Amyloidosis of peripheral nerves	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional	8
HP:0100292	HP:0100292	Amyloidosis of peripheral nerves	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040283 - Occasional	69

Genes (2) :B2M PRNP

Diseases (2) :ORPHA:314652 ORPHA:282166

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