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 degeneration/regeneration (HP:0003378)

Term ID:

3378

Name:

Axonal degeneration/regeneration

Synonym:

Axon degeneration and regeneration

Definition:

A pattern of simultaneous degeneration and regeneration of axons (see comment).

Comments:

Reference:

HP:0003378

Genes and Diseases:

Child Nodes:

Sister Nodes:

Axonal degeneration (HP:0040078)

Axonal loss (HP:0003447)

Axonal regeneration (HP:0003450)

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:0003378	HP:0003378	Axonal degeneration/regeneration	0	GBF1 CL E G H	8729	4181	OMIM:606483	Charcot-Marie-Tooth disease, dominant intermediate A	.
HP:0003378	HP:0003378	Axonal degeneration/regeneration	0	KIF1B CL E G H	23095	16636	OMIM:118210	Charcot-Marie-Tooth disease, axonal, type 2A1	.	202
HP:0003378	HP:0003378	Axonal degeneration/regeneration	0	LMNA CL E G H	4000	6636	OMIM:605588	Charcot-Marie-Tooth disease, axonal, type 2B1	.	645
HP:0003378	HP:0003378	Axonal degeneration/regeneration	0	LRSAM1 CL E G H	90678	25135	OMIM:614436	Charcot-Marie-Tooth disease, axonal, type 2P	.	102
HP:0003378	HP:0003378	Axonal degeneration/regeneration	0	MFN2 CL E G H	9927	16877	OMIM:609260	Charcot-marie-tooth disease, axonal, type 2A2A	.	203
HP:0003378	HP:0003378	Axonal degeneration/regeneration	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI		203
HP:0003378	HP:0003378	Axonal degeneration/regeneration	0	MPZ CL E G H	4359	7225	OMIM:607677	Charcot-Marie-Tooth disease, axonal, type 2I	.	134
HP:0003378	HP:0003378	Axonal degeneration/regeneration	0	MPZ CL E G H	4359	7225	OMIM:607791	Charcot-Marie-Tooth disease, dominant intermediate D	.	134
HP:0003378	HP:0003378	Axonal degeneration/regeneration	0	MPZ CL E G H	4359	7225	OMIM:607736	Charcot-Marie-Tooth disease, type 2J		134
HP:0003378	HP:0003378	Axonal degeneration/regeneration	0	RAB7A CL E G H	7879	9788	OMIM:600882	Charcot-Marie-Tooth disease, axonal, type 2B	.	50
HP:0003378	HP:0003378	Axonal degeneration/regeneration	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163

Genes (8) :GBF1 KIF1B LMNA LRSAM1 MFN2 MPZ RAB7A SLC12A6

Diseases (11) :OMIM:606483 OMIM:118210 OMIM:605588 OMIM:614436 OMIM:609260 OMIM:601152 OMIM:607677 OMIM:607791 OMIM:607736 OMIM:600882 OMIM:218000

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

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