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:
Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)

Parent Node:
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material (HP:0003205)

..Starting node
..Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material (HP:0006916)

Term ID:

6916

Name:

Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material

Synonym:

Intraaxonal accumulation of curvilinear profiles

Definition:

Curvilinear intracellular accumulation of autofluorescent lipopigment storage material within axons.

Comments:

Reference:

HP:0006916

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0006916	HP:0006916	Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.	82

Genes (1) :NDRG1

Diseases (1) :OMIM:601455

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