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 loss (HP:0003447)

Term ID:

3447

Name:

Axonal loss

Synonym:

Definition:

A reduction in the number of axons in the peripheral nervous system.

Comments:

Reference:

HP:0003447

Genes and Diseases:

Child Nodes:

Sister Nodes:

Axonal degeneration (HP:0040078)

Axonal degeneration/regeneration (HP:0003378)

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:0003447	HP:0003447	Axonal loss	0	ADPRS CL E G H	54936	21304	OMIM:618170	Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures	.
HP:0003447	HP:0003447	Axonal loss	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0003447	HP:0003447	Axonal loss	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.	204
HP:0003447	HP:0003447	Axonal loss	0	FIG4 CL E G H	9896	16873	OMIM:611228	Charcot-Marie-Tooth disease, type 4J		111
HP:0003447	HP:0003447	Axonal loss	0	GDAP1 CL E G H	54332	15968	ORPHA:101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness		108
HP:0003447	HP:0003447	Axonal loss	0	GJB1 CL E G H	2705	4283	ORPHA:1175	X-linked progressive cerebellar ataxia	HP:0040282 - Frequent	107
HP:0003447	HP:0003447	Axonal loss	0	INF2 CL E G H	64423	23791	OMIM:614455	Charcot-Marie-Tooth disease, dominant intermediate E	.	135
HP:0003447	HP:0003447	Axonal loss	0	LMNA CL E G H	4000	6636	ORPHA:98856	Charcot-Marie-Tooth disease type 2B1		645
HP:0003447	HP:0003447	Axonal loss	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0003447	HP:0003447	Axonal loss	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0003447	HP:0003447	Axonal loss	0	NDRG1 CL E G H	10397	7679	OMIM:601455	Charcot-Marie-Tooth disease, type 4D	.	82
HP:0003447	HP:0003447	Axonal loss	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0003447	HP:0003447	Axonal loss	0	RFC1 CL E G H	5981	9969	OMIM:614575	Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome	.
HP:0003447	HP:0003447	Axonal loss	0	SLC12A6 CL E G H	9990	10914	OMIM:620068			163
HP:0003447	HP:0003447	Axonal loss	0	SURF1 CL E G H	6834	11474	OMIM:616684	Charcot-Marie-Tooth disease, type 4K		73
HP:0003447	HP:0003447	Axonal loss	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1	.	4
HP:0003447	HP:0003447	Axonal loss	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	.	22
HP:0003447	HP:0003447	Axonal loss	0	UBQLN2 CL E G H	29978	12509	OMIM:300857	Amyotrophic lateral sclerosis 15 with or without frontotemporal dementia	.	20
HP:0003447	HP:0003447	Axonal loss	0	UBTF CL E G H	7343	12511	OMIM:617672	Neurodegeneration, childhood-onset, with brain atrophy	.	1

Genes (19) :ADPRS ASCC1 BAG3 FIG4 GDAP1 GJB1 INF2 LMNA MOCS1 MOCS2 NDRG1 NGLY1 RFC1 SLC12A6 SURF1 TRIP4 TYROBP UBQLN2 UBTF

Diseases (19) :OMIM:618170 OMIM:616867 OMIM:612954 OMIM:611228 ORPHA:101097 ORPHA:1175 OMIM:614455 ORPHA:98856 OMIM:252150 OMIM:252160 OMIM:601455 ORPHA:404454 OMIM:614575 OMIM:620068 OMIM:616684 OMIM:616866 OMIM:221770 OMIM:300857 OMIM:617672

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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