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:
Peripheral axonal degeneration (HP:0000764)

Parent Node:
Axonal regeneration (HP:0003450)

..Starting node
..Clusters of axonal regeneration (HP:0007233)

Term ID:

7233

Name:

Clusters of axonal regeneration

Synonym:

Definition:

Groups of small caliber axons in peripheral nerve biospies indicative of axonal regeneration.

Comments:

Reference:

HP:0007233

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:0007233	HP:0007233	Clusters of axonal regeneration	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0007233	HP:0007233	Clusters of axonal regeneration	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.	118

Genes (2) :GDAP1 NEFL

Diseases (2) :ORPHA:101097 OMIM:607734

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