Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 peripheral myelination (HP:0003130)

Parent Node:
Onion bulb formation (HP:0003383)

..Starting node
..Basal lamina onion bulb formation (HP:0003400)

Term ID:

3400

Name:

Basal lamina onion bulb formation

Synonym:

Basal lamina 'onion bulb' formations on nerve biopsy

Definition:

A type of onion bulb formation prominently affecting the area of the basal lamina.

Comments:

Reference:

HP:0003400

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:0003400	HP:0003400	Basal lamina onion bulb formation	0	GDAP1 CL E G H	54332	15968	OMIM:214400	Charcot-Marie-Tooth disease, type 4A	.	108
HP:0003400	HP:0003400	Basal lamina onion bulb formation	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F	.	170
HP:0003400	HP:0003400	Basal lamina onion bulb formation	0	SH3TC2 CL E G H	79628	29427	OMIM:601596	Charcot-Marie-Tooth disease, type 4C	.	493

Genes (3) :GDAP1 PRX SH3TC2

Diseases (3) :OMIM:214400 OMIM:614895 OMIM:601596

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