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 peripheral nervous system morphology (HP:0000759)

Parent Node:
Peripheral axonal degeneration (HP:0000764)

..Starting node
..Axonal regeneration (HP:0003450)

Term ID:

3450

Name:

Axonal regeneration

Synonym:

Regenerative activity on nerve biopsy

Definition:

The presence of axonal regeneration following a previous axonal lesion.

Comments:

Reference:

HP:0003450

Genes and Diseases:

Child Nodes:

........

Clusters of axonal regeneration (HP:0007233)

Sister Nodes:

Axonal degeneration (HP:0040078)

Axonal degeneration/regeneration (HP:0003378)

Axonal loss (HP:0003447)

Peripheral axonal atrophy (HP:0003384)

Peripheral axonal neuropathy (HP:0003477)

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:0003450	HP:0003450	Axonal regeneration	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0003450	HP:0003450	Axonal regeneration	0	GDAP1 CL E G H	54332	15968	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.	108
HP:0003450	HP:0003450	Axonal regeneration	0	GNB4 CL E G H	59345	20731	OMIM:615185	Charcot-Marie-Tooth disease, dominant intermediate F	.	12
HP:0003450	HP:0003450	Axonal regeneration	0	HK1 CL E G H	3098	4922	OMIM:605285	Neuropathy, hereditary motor and sensory, Russe type	.	11
HP:0003450	HP:0003450	Axonal regeneration	0	JPH1 CL E G H	56704	14201	OMIM:607831	Charcot-Marie-Tooth disease, axonal, type 2K	.	1
HP:0003450	HP:0003450	Axonal regeneration	0	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F		118
HP:0003450	HP:0003450	Axonal regeneration	0	YARS1 CL E G H	8565	12840	OMIM:608323	Charcot-Marie-Tooth disease, dominant intermediate C	.
HP:0003450	HP:0007233	Clusters of axonal regeneration	1	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0003450	HP:0007233	Clusters of axonal regeneration	1	NEFL CL E G H	4747	7739	OMIM:607734	Charcot-Marie-Tooth disease, demyelinating, type 1F	.	118

Genes (6) :GDAP1 GNB4 HK1 JPH1 NEFL YARS1

Diseases (6) :ORPHA:101097 OMIM:607831 OMIM:615185 OMIM:605285 OMIM:607734 OMIM:608323

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