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:
Abnormal myocardium morphology (HP:0001637)

Grandparent Node:
Amyloidosis (HP:0011034)

Parent Node:
Cardiac amyloidosis (HP:0030843)

..Starting node
..Transthyretin cardiac amyloidosis (HP:0031327)

Term ID:

31327

Name:

Transthyretin cardiac amyloidosis

Synonym:

TTR cardiac amyloidosis

Definition:

A type of cardiac amyloidosis related to deposition of transthyretin (TTR), which is identified by immunohistochemical staining.

Comments:

Reference:

HP:0031327

Genes and Diseases:

Child Nodes:

Sister Nodes:

Monoclonal light chain cardiac amyloidosis (HP:0031326)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031327	HP:0031327	Transthyretin cardiac amyloidosis	0	CL E G H

Genes (0) :

Diseases (0) :

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